Mitochondrial DNA A–Z: A Step-by-Step Guide to Matches, Mitotree, and mtDNA Discover

People have been asking for a step-by-step guide for mitochondrial DNA, and here it is!

This article steps testers through all their results, page by page, including a dozen Discover reports, explaining what the information in each tool means. There’s SO MUCH great content provided, and you’ll want to absorb every tidbit.

This is meant to be a roadmap for you – a recipe card to follow to get the most out of your results.

You can either read through this article once, then sign on to your own account, or sign on now and follow along. Yes, this article is long, but it’s also a one-stop shop when you want information about any page or feature. Refer back to this article as needed, and feel free to forward it to others when they receive their results.

I’ve also provided additional resources for you at each step of the way, along with many tips and suggestions to help you help yourself.

I’m using the LeJeune sisters of Acadia as my example – in part because there were several questions about their heritage – including whether they were actually sisters, whether they were Native American, and if a third woman was also a sister.

Think about why you tested, and what you hope to learn so you know where to focus.

Everyone has their own motivation for testing, and we all want to extract as much information as possible. Some answers are genetic – thanks to mitochondrial, Y-DNA, and autosomal testing. Some answers are historical and genealogical. All of them need to mesh nicely together and confirm each other.

When they don’t, if they don’t, we need to understand how to discern the truth.

Every Ancestor Has a Mitochondrial DNA Story to Tell You

Sometimes it’s not our own results we’re analyzing, but the results of another tester – a cousin whose mitochondrial DNA represents a particular shared ancestor. We aren’t restricted to just our own mitochondrial DNA to decipher our ancestors’ stories.

What messages and secrets do those ancestors have to tell us? Our results read like the very best mystery novel ever – except it’s not a novel – it’s fact. And it’s ours!

Mitochondrial DNA is only passed from mothers to their children, never admixed or combined with the DNA of the father, so your mitochondrial DNA today is either exactly the same as that of your ancestors a few generations ago, or very close if a mutation has occurred between when they lived and today’s tester.

One of mitochondrial DNA’s strengths is that it can reach far back in time, it’s message undiluted and uninterrupted by recombination.

The messages from our ancestors are very clear. We just need to understand how to hear what they are telling us.

Step-by-Step Soup to Nuts

We will analyze the mitochondrial DNA results of multiple testers who descend from the LeJeune sisters, Edmee and Catherine, born in 1624 and 1633, respectively, to see what they have to tell their descendants. For a very long time, rumors abounded that their mother was Native American, so we will keep that in mind as we review all matching, Mitotree and mtDNA Discover tools provided by FamilyTreeDNA.

We will also learn how to evaluate seemingly conflicting information.

Soup to nuts – we will incorporate every sliver of information along the way and extract every morsel that can help you. Think of this article as your recipe and the reports and information as ingredients!

To be clear, you don’t HAVE to read all of this or decipher anything if you don’t want to. You can just glance at the matches and be on your way – but if you do – you’re leaving an incredible amount of useful information on the table, along with MANY hints that you can’t find elsewhere.

If there was an out-of-print book about this ancestral line in a rare book collection someplace, as a genealogist, you would drive half-way across the country to access that information. This is your rare book, that updates itself, and you don’t have to do anything other than take a mitochondrial DNA test, or find a cousin to take one for lines you don’t carry..

Come along and join the fun! Your ancestors are waiting!

The LeJeune Question

Recently, I wrote about my ancestor Catherine LeJeune, who was born about 1633, probably in France before her family settled in Acadia, present-day Nova Scotia.

The identity of her parents has been hotly contested and widely debated for a long time.

I intentionally did not address her DNA results in that article because I wanted to establish the historical facts about her life and address her mitochondrial DNA separately. The process we are following to analyze her DNA results is the same process everyone should follow, which is why we are taking this step-by-step approach, complete with detailed explanations.

Often, when people hit a brick wall with an ancestor, especially during European colonization of the Americas, someone suggests that the person surely “must be” Native American. Lack of records is interpreted to add layers of evidence, when, in fact, absence of evidence is not evidence of absence.

For example, for many of the earliest French Acadians, birth and baptism records have NOT been located in France, where massive record loss has been experienced.

Additionally, not all records that do exist have been indexed, transcribed, or digitized. Many are damaged and/or nearly impossible to read. Lack of records does NOT mean that those settlers weren’t French, or in this case, it does NOT indicate that they were Native American. It simply means we are lacking that piece of evidence.

Enter mitochondrial DNA.

This article is focused on how to use mitochondrial DNA to decode these messages from our ancestors. I’m providing a very short summary of the relevant historical factors about the LeJeune sisters so readers can keep this in mind as we review the 17+ tools waiting for us when mitochondrial DNA results are ready.

The First Acadian Settlers

The Acadians were French settlers in what is today Nova Scotia. The first Acadians arrived in LaHeve (LaHave), on the southern coast of Acadia, in 1632 after Acadia was returned to France from English control. There may or may not have been any French families in the original group, but if so, very few. In 1636, another group of settlers arrived, but no LeJeune is on the roster.

At the end of 1636, the fledgling Acadian colony was moved from LaHeve, on the southern coast, to Port Royal, a more protected environment.

While we don’t know exactly when the family of Catherine and Edmee LeJeune arrived, we can bracket the dates. We know that Catherine’s sister, Edmee LeJeune, born about 1624, married another settler, Francois Gautrot, about 1644 in Port Royal, so they had arrived by that time.

Edmee’s 1624 birth year is important for two reasons. First, there were no French settlers in the part of Acadia that became Nova Scotia in 1624, so that clearly demonstrates that Edmee was born in France.

It’s unlikely that Catherine was born in Acadia in 1633 given that the first known families arrived in 1636, and we have their names from the ship roster. Pierre Martin was on the 1636 ship, and Acadian history tells us that his son, Mathieu Martin, was the first French child born in Acadia, about 1636, based on the 1671 census.

We also know that there was an early Acadian man, Jean LeJeune, who was granted land at BelleIsle, near Port Royal, among other Acadian families, but he was deceased before the first Acadian census in 1671. Acadia was under English control again from 1654 to 1670, so Jean LeJeune’s land grant had to have occurred after 1636 and prior to 1654, and is where Catherine LeJeune is found as an adult.

Another source of confusion is that there is a third LeJeune woman, Jeanne LeJeune dit Briard, born about 1659. Her daughter, Catherine Joseph’s 1720 marriage record in Port Royal refers to her mother, Jeanne, as being “d’un nation sauvagé”, giving her parents’ names as Francois Joseph and Jeanne LeJeune “of the Indian Nation.” Jeanne LeJeune dit Briard lived with her first husband in Port Royal, but had relocated to LaHeve by 1708.

You can see why this led to confusion about LeJeune females.

Another male, Pierre LeJeune was associated with LaHeve, which suggests he may have been awarded land there, possibly before the colony moved to Port Royal. One of the reasons that the rumor that Catherine LeJeune had a Native mother is so persistent is the belief that Pierre came over early, as a laborer or soldier, and married a Native woman because there weren’t any European women available.

Pierre may well have arrived as a single man, but there is no shred of evidence to suggest Pierre is the father of the sisters, Catherine LeJeune and Edmee LeJeune. In fact, given that Jeanne was born about 1659, Pierre, if he was her father, may have been born as late as 1627, which makes it impossible for him to have been Catherine and Edmee’s father.

That speculation was before the advent of DNA testing, and before Stephen White discovered that there was also a Jean LeJeune who was awarded land exactly where Catherine is known to have been living a few years later.

While it would be nice to unravel this entire cat’s cradle of confusion, the questions we are seeking to answer definitively here are:

  • Are Catherine LeJeune (born 1633) and Edmee LeJeune (born 1624) actually sisters?
  • Is the mother of Catherine LeJeune and her sister, Edmee LeJeune, Native American or European?
  • Is Jeanne LeJeune dit Briard, born about 1659, “d’un nation sauvagé” another sister of the LeJeune sisters?
  • What else is revealed about the LeJeune sisters and their ancestors? Is there something else we should know?

I’ll provide a summary of the combined evidence after our step-by-step mitochondrial analysis.

Testing for Sisters

Mitochondrial DNA is passed from mothers to all of their children, but only females pass it on.

Since we have two LeJeune females, believed to be sisters, we need mitochondrial DNA from direct matrilineal testers for each woman. This is particularly important because we know unquestionably that Edmee was born in France in 1624, prior to Acadian settlement in New France, so her DNA should be European. If they match, it means that Catherine was born to the same mother who was not Native. If they don’t match, there’s a different message.

In some cases, a match might mean that they were born to females related on the matrilineal line, like first cousins, for example. But in the early days of Acadia, there were no European females other than the handful, less than a dozen, who arrived on the Saint-Jehan in 1636.

Fortunately, we have multiple testers for each woman in two DNA projects at FamilyTreeDNA, the only DNA testing company that provides mitochondrial DNA testing and matching. Testers can join special interest projects, and both the Mothers of Acadia Project, and the Acadian AmerIndian Project have testers who descend from the LeJeune sisters.

I’ve identified 28 descendants of Catherine, and 25 from Edmee, giving us a total of 53 known matrilineal descendants to work with. Not all are shown publicly, in projects. Catherine has a known total of 14 testers, and Edmee has 17 that are shown publicly. All testers are members of haplogroup U6a7a1a.

The fact that the descendants of these women match each other, often exactly, combined with Catholic parish register dispensations for their descendants, when taken together, prove conclusively that Catherine and Edmee were sisters, not paternal half-sisters.

Let’s look at each piece of evidence.

Mitochondrial DNA Results

When the lab finishes processing the mtFull test, the results are posted to the account of the test taker.

Click on any image to enlarge

You’ll see the Maternal Line Ancestry section which displays your mitochondrial mtDNA Results.

The three tabs we will be primarily working with are:

  • mtDNA Matches
  • Matches Maps
  • Discover Haplogroup Reports, which includes another dozen+ reports and an updated Migration Map
  • Advanced Matching

At the bottom right of your page, you’ll see two haplogroup badges.

The one at right is called the “Legacy” haplogroup, which means the haplogroup you were assigned prior to the release of the new Mitotree.

The Mitotree mtDNA Haplogroup, with the green “Beta” at the bottom, is the new Mitotree haplogroup, which I wrote about in a series of articles:

Your old Legacy haplogroup will never change, because it’s the 2016 version that was not updated by the previous tree-keepers. That’s why the FamilyTreeDNA R&D team, me included, developed and birthed the new Mitotree. There were thousands of new haplogroups that could be defined to kick-start our genealogy, so we did.

The mitochondrial tree went from about 5000 branches to over 40,000 in the new Mitotree, each providing additional information to testers.

Not everyone received a new haplogroup, but about 75% of testers did, and another new Mitotree version will be released soon. In order to receive a new haplogroup, testers needed to:

  • Have at least one qualifying, stable mutation that had not been previously used to define a haplogroup
  • Match at least one other person in the same haplogroup branch with the same mutation(s)

In the case of the LeJeune sisters, there were no mutations that met all of the qualifications, so their known descendants did not receive a new haplogroup. That’s fine, though, because it’s not the name but the messages held by the information that’s important – and there’s a LOT to work with.

Let’s start with matches.

Matches

Of course, the first thing everyone does is click to see their matches.

The default is Detail View, but I prefer Table View (top left) because you can see more matches on the same page.

Catherine’s descendant whose matches are shown here has 108 Full Sequence matches, which are labeled as the “Coding Region.” The Coding Regions is the mtFULL test and includes both the HVR1 and HVR2 regions. Viewing Coding Region matches means they have taken the mtFull test, which sequences all 16,569 locations of the mitochondria.

When you click on the “Coding Region”, you are seeing matches to people who took all three test levels, not just the first one or two.

There are three test levels to view:

  1. HVR1
  2. HVR1+HVR2 both
  3. Coding Region, which is in addition to the HVR1+HVR2 regions

You can no longer order three different test levels today, although at one time you could. As costs decreased, it no longer made sense to offer multiple testing levels, and often the HVR1 or HVR1+HVR2 results, which only tested about 500 locations each, would confuse people.

People at the lower HVR1 or HVR1+HVR2 levels, known as mtPlus, can upgrade to the complete mtFull level, and should.

However, because some people only tested at those lower levels, matches are still shown at three levels, with different match thresholds for each level.

Matches at the HVR1 or HVR1+HVR2 levels *might* be entirely irrelevant, reaching back thousands of years. They could also be much more current, and critical to your genealogy, so don’t assume. Just one unstable mutation can cause a mismatch though, and at lower levels, cause you not to match someone with the same ancestor, which is why the full sequence test is so critically important.

For some testers, matches at lower levels sometimes provide the ONLY match to your known ancestor. So don’t skip over them. If you find a critical match there, you can email the tester to see if they will upgrade to the mtFull test.

People who test only at the HVR1 or HVR1+HVR2 level receive a more refined haplogroup after they upgrade, so the haplogroups between the HVR1/HVR2 testers and the full sequence test won’t match exactly. For the LeJeune sisters, the haplogroup for HVR1/HVR2-only testers is U6a and for full sequence testers, it’s U6a7a1a.

While full sequence matches are wonderful, if you’re searching for a particular ancestor and the ONLY place they appear is the HVR1 or HVR1+HVR2 testing levels, you’ll want to pursue the match. You may also want to evaluate lower level matches if their ancestors are from a specific location – like France – even if their earliest known ancestor (EKA) is not your ancestor.

To view your  HVR1 or HVR1+HVR2 matches, just click on either of those links. You’ll see ALL of the results, including everyone who took the full sequence test. In this case, that means that the 217 HVR1 (hypervariable region 1) results will include the 120 coding region (full sequence) tests. I’ve already looked through the full sequence matches, so that’s not what I want.

If you ONLY want to see testers who did NOT take the Full Sequence test, use the Filter option. Select Filter, then the features you seek.

Fortunately, the LeJeune sisters have lots of known descendants at the mtFull level to work with, so we will focus on their full sequence matches.

Your Focus

On the matches page, you’ll be immediately interested in two fields:

  • Maternal Earliest Known Ancestor (EKA) – the direct matrilineal ancestor of your match – unless they got confused and entered someone else
  • Their Tree

Viewing the first several matches only produced one match to someone whose earliest known ancestor (EKA) is listed as Catherine or Edmee LeJeune, but perhaps the next group will be more productive. Note that females’ EKAs, earliest known ancestors, are sometimes challenging, given surname changes. So unfamiliar EKAs could represent generational differences and sometimes offer other hints based on their information.

Shifting to the detail view for a minute, you’ll want to review the genetic distance,  meaning whether you’re an exact match or not.

If you’re not an exact match, a genetic distance of “1 step” means that you match except for one mutation at a specific location.

If you have a genetic distance greater than 3, meaning 4 mutations or more, you won’t be shown as a match on this match list. However, you can still be a haplogroup match, which we’ll discuss in the Discover section.

Essentially, with more than 3 mutations difference, it’s unlikely (but not impossible) that your match is genealogically relevant – meaning you probably won’t be able to identify your most recent common ancestor (MRCA).

However, that doesn’t mean that haplogroup-only matches can’t provide important clues, and we will look under every rock!

A Slight Detour – Confirmation Bias

This is a good place to mention that both ancestors and their location (country) of origin are provided by (some) testers to the best of their ability and understanding.

This tester selected “United States Native American” as the location for their earliest known ancestor. We don’t know why they entered that information. It could be that:

  • The tester did not understand that the maternal country of origin means the direct MATRILINEAL line, not just someplace on the maternal side
  • Selina Sinott was Native on her father’s side, or any line OTHER than her direct matrilineal line.
  • They relied on oral history or made a guess
  • They found the information in someone else’s tree
  • They found all of the LeJeune information confusing (because it is)

The tester has provided no tree, so we can’t do any sleuthing here, but an Ancestry search shows a woman by that name born in 1855 in Starksboro, VT to Louis Senott and Victoria Reya. A further search on Victoria leads me to Marie Lussier who leads me to Marguerite Michel who leads me to Marie Anne Lord (Lore, Laure), who lived in Acadia, whose ancestor is…drum roll…Catherine LeJeune. You get the idea.

Yes, you may need to extend other people’s trees.

The Point

However, and this is the point – if you’re looking for confirmation that the LeJeune sisters were Native American, this ONE tester who entered Native American for an unknown reason is NOT the confirmation you’re looking for. Don’t get sucked into confirmation bias, or into categorically believing what someone else entered without additional information.

You need haplogroup confirmation, but, in this case, you don’t have it. However, if you’re new to genetic genealogy, you don’t know that yet, so hold on. We’re still getting there. This is why we need to review all of the reports.

And trust me, I’m not being critical because there isn’t a single seasoned genealogist who has NOT fallen down the rathole of excited confirmation bias or accepting information without further analysis – me included. We all need to actively guard against it, all the time. Confirm and weigh all of the evidence we do have, and seek missing evidence.

Let’s go back to the match results.

Matches – Haplogroups and Haplotypes

Scrolling down the Table View, the next group of matches shows many more matches to descendants of both Catherine and Edmee LeJeune.

Next, you’ll notice that there’s a Mitotree haplogroup, U6a7a1a, AND an F number. In this case, they are both checked in blue, which means you share the exact same haplogroup with that tester, and the exact same haplotype cluster, which is the F number.

I wrote about haplotype clusters, here.

If NEITHER box is checked, you don’t share either the haplogroup nor the haplotype cluster.

You can match the haplogroup, but not the haplotype cluster, which means the haplogroup box will be checked, but the haplotype cluster will not. If you share the same haplotype cluster, you WILL share the same haplogroup, but the reverse is not true.

What is a Haplotype Cluster, and why do they matter?

Haplotype Clusters

We need to talk about exact matches and what they mean. Yes, I know it seems intuitive, but it isn’t.

There are three types of matches

  • Matching and Genetic Distance on your Match List
  • Haplotype matching
  • Haplogroup matching

Without getting (too much) into the weeds, an Exact Match in the Genetic Distance column on your match list excludes locations 309 and 315 because they are too unstable to be considered reliable for matching. So, 309 and 315 are EXCLUDED from this type of matching. In other words, you may or may not match at either or both of those locations. They are ignored for matching on your match list.

Locations 309 and 315 are also EXCLUDED from haplogroup definitions.

A haplotype F cluster match indicates that everyone in that cluster is an exact match, taking into consideration EVERY mutation, INCLUDING 309 and 315.

309 and 315 Why
Matching and Genetic Distance Excluded Unstable, probably not genealogically relevant and may be deceptive, leading you down a rathole
Haplogroup Definition Excluded Too unstable for tree branching and definition
Haplotype F Clusters Included Might be genealogically useful, so everyone can evaluate the rathole for themselves

Some people think that if they don’t match someone exactly, they can’t have the same ancestor as people who do match exactly, but that’s not true. “Mutations happen” whenever they darned well please. Downstream mutations in stable locations that match between two or more testers will form their own haplogroup branch.

The most distant matches are shown on the last match page, and as you can see below, some descendants of Catherine and Edmee LeJeune have a 1-step difference with our tester, meaning a genetic distance of one, or one mutation (disregarding 309 and 315). One match has a 2-step mutation.

The fact that their F numbers are not the same tells you that their mutations are different from each other, too. If two of those people also matched each other, their F# would be identical.

The mutations that do not (yet) form a haplogroup, and are included in your haplotype cluster, are called Private Variants, and you cannot see the private variants of other people. Clearly, you and anyone in your haplotype cluster share all of the same mutations, including Private Variants.

Evaluating Trees and EKAs

By reviewing the matches, their EKAs, and the trees for the matches of Catherine’s descendants, I was able to create a little mini-tree of sorts. Keep in mind that not everyone with an EKA has a tree, and certainly not everyone who uploaded a tree listed an EKA. So be sure to check both resources. Here’s how to add your EKA, and a one-minute video, here.

The good news is that if your match has a WikiTree link when you click on their tree icon, you know their tree actually reaches back to either Edmee or Catherine if that’s their ancestor, and you’re not dealing with a frustrating, truncated two or three-generation tree, or a private tree. You can add your WikiTree link at FamilyTreeDNA here, in addition to any other tree you’ve linked.

Takeaways from Matches

  • You can identify your common ancestor with other testers. By viewing people’s trees and emailing other testers, you can often reconstruct the trees from the tester back through either Catherine or Edmee LeJeune.
  • Your primary focus should be on the people in your haplotype cluster, but don’t neglect other clusters where you may find descendants of your ancestor.
  • If you see a male EKA name, or something other than a female name in the EKA field, like a location, the tester was confused. Only females pass their mitochondrial DNA to their descendants.
  • If you’re searching for an ancestor whose mitochondrial DNA you don’t carry, use projects and WikiTree to see if you can determine if someone has tested from that line. From viewing the project results, I already knew that the LeJeune sisters had several descendants who had tested.
  • If you’re searching for your ancestor on your match list, and you don’t find them in the full sequence results, use the filter to view people who ONLY took the HVR1 and HVR1+HVR2 tests to see if the results you seek are there. They won’t be on your full sequence match list because they didn’t test at that level. Testers at the lower levels will only have a partial, estimated haplogroup – in this case, U6a.
  • For Edmee and Catherine LeJeune, we have enough testers to ensure that we don’t have just one or two people with the same erroneous genealogy. If you do find someone in a project or at WikiTree claiming descent from the same ancestor, but with a different haplogroup, you’ll need to focus on additional research to verify each step for all testers.

Resources:

Matches Maps

The Matches Map is a great visual resource. That “picture is worth 1000 words” tidbit of wisdom definitely applies here.

Clicking on the Matches Maps displays the locations that your matches entered for their EKA.

In the upper left-hand corner, select “Full Sequence,” and only the full sequence matches will be displayed on the map. All full sequence testers also have HVR1/HVR2 results, so those results will be displayed under that selection, along with people who ONLY took the HVR1 or HVR1/HVR2 tests.

We know that the Acadians originally came from France, and their descendants were forcibly expelled from Nova Scotia in 1755. Families found themselves scattered to various locations along the eastern seaboard, culminating with settlements in Louisiana, Quebec, and in some cases, back in France, so this match distribution makes sense in that context.

Be sure to enlarge the map in case pins are on top of or obscuring each other.

Some people from other locations may be a match, too. Reviewing their information may assist with breaking down the next brick wall. Sometimes, additional analysis reveals that the tester providing the information was confused about what to complete, e.g., male names, and you should disregard that pin.

Takeaways from the Matches Map

  • These results make sense for the LeJeune sisters. I would specifically look for testers with other French EKAs, just in case their information can provide a (desperately needed) clue as to where the LeJeune family was from in France.

  • Reviewing other matches in unexpected locations may provide clues about where ancestors of your ancestor came from, or in this case, where descendants of the LeJeune sisters wound up – such as Marie Josephe Surette in Salem, Massachusetts, Catherine LeJeune’s great-granddaughter.
  • Finding large clusters of pins in an unexpected location suggests a story waiting to be uncovered. My matrilineal ancestor was confirmed in church records in Wirbenz, Germany, in 1647 when she married, but the fact that almost all of my full sequence matches are in Scandinavia, clustered in Sweden and Norway, suggests an untold story, probably involving the 30 Years War in Germany that saw Swedish troop movement in the area where my ancestor lived.
  • For my own mitochondrial DNA test, by viewing trees, EKAs, and other hints, including email addresses, I was able to identify at least a country for 30 of 36 full sequence matches and created my own Google map.
  • You can often add to the locations by creating your own map and including everyone’s results.

Resources:

Mitochondrial DNA Part 4 – Techniques for Doubling Your Useful Matches

Mitochondrial DNA Myth – Mitochondrial DNA is not Useful because the Haplogroups are “Too Old”

Before we move to the Discover Reports, I’m going to dispel a myth about haplogroups, ages, genealogical usefulness, and most recent common ancestors known as MRCAs.

Let me start by saying this out loud. YES, MITOCHONDRIAL DNA IS USEFUL FOR GENEALOGY and NO, OLDER HAPLOGROUPS DO NOT PREVENT MITOCHONDRIAL DNA FROM BEING USEFUL.

Here’s why.

The most recent common ancestor (MRCA) is the person who is the closest common ancestor of any two people.

For example, the mitochondrial DNA MRCA of you and your sibling is your mother.

For your mother and her first cousin, the mitochondrial MRCA is their grandmother on the same side, assuming they both descend from a different daughter. Both daughters carry their mother’s undiluted mitochondrial DNA.

A common complaint about mitochondrial DNA is that “it’s not genealogically useful because the haplogroups are so old” – which is absolutely untrue.

Let’s unravel this a bit more.

The MRCA of a GROUP of people is the first common ancestor of EVERY person in the group with each other.

So, if you’re looking at your tree, the MRCA of you, your sibling, and your mother’s 1C in the example above is also your mother’s grandmother, because your mother’s grandmother is the first person in your tree that ALL of the people in the comparison group descend from.

Taking this even further back in time, your mother’s GGG-grandmother is the MRCA for these five people bolded, and maybe a lot more descendants, too.

At that distance in your tree, you may or may not know the name of the GGG-grandmother and you probably don’t know all of her descendants either.

Eventually, you will hit a genealogical brick wall, but the descendants of that unknown “grandmother” will still match. You have NOT hit a genetic brick wall.

A haplogroup name is assigned to the woman who had a mutation that forms a new haplogroup branch, and she is the MRCA of every person in that haplogroup and all descendant haplogroups.

However, and this is important, the MRCA of any two people, or a group of people may very well be downstream, in your tree, of that haplogroup mother.

As you can clearly see from our example, there are four different MRCAs, depending on who you are comparing with each other.

  • Mom – MRCA of you and your sibling
  • Grandmother – MRCA of you, your sibling, your mom and your mom’s 1C
  • GGG-Grandmother – MRCA of all five bolded descendants
  • Haplogroup formation – MRCA of ALL tested descendants, and all downstream haplogroups, many of whom are not pictured

Many of the testers may, and probably do, form haplotype clusters beneath this haplogroup.

When you are seeking a common ancestor, you really don’t care when everyone in that haplogroup was related, what you seek is the common ancestor between you and another person, or group of people.

If the haplogroup is formed more recently in time, it may define a specific lineage, and in that case, you will care because that haplogroup equates to a woman you can identify genealogically. For example, let’s say that one of Catherine LeJeune’s children formed a specific haplogroup. That would be important because it would be easy to assign testers with that haplogroup to their appropriate lineage. That may well be the case for the two people in haplogroup U6a7a1a2, but lack of a more recent haplogroup for the other testers does not hinder our analysis or reduce mitochondrial DNA’s benefits.

That said, the more people who test, the more possibilities for downstream haplogroup formation. Currently, haplogroup U6a7a1a has 34 unnamed lineages, just waiting for more testers.

Haplogroup ages are useful in a number of ways, but haplogroup usefulness is IN NO WAY DEPRICATED BY THEIR AGE. The haplogroup age is when every single person in that haplogroup shares a common ancestor. That might be useful to know, but it’s not a barrier to genealogy. Unfortunately, hearing that persistent myth causes people to become discouraged, give up and not even bother to test, which is clearly self-defeating behavior. You’ll never know what you don’t know, and you won’t know if you don’t test. That’s my mantra!

The LeJeune sisters provide a clear example.

OK, now on to Discover.

mtDNA Discover

Next, we are going to click through from the mtDNA Results and Tools area on your personal page to Discover Haplogroup Reports. These reports are chapters in your own personal book, handed down from your ancestors.

Discover is also a freely available public tool, but you’ll receive additional and personalized information by clicking through when you are signed into your page at FamilyTreeDNA. Only a subset is available publicly.

mtDNA Discover was released with the new Mitotree and provides fresh information weekly.

Think of Discover as a set of a dozen reports just for your results, with one more, Globetrekker, an interactive haplogroup map, coming soon.

Resources:

When you click through to Discover from your results, Discover defaults to your haplogroup. In this case, that’s U6a7a1a for the LeJeune sisters.

Let’s begin with the first report, Haplogroup Story.

Haplogroup Story

The Haplogroup Story is a landing page that summarizes information about your ancestor’s haplogroup relevant to understanding your ancestor’s history. Please take the time to actually READ the Discover reports, including the information buttons, not just skim them.

Think of Discover as your own personalized book about your ancestors – so you don’t want to miss a word.

You’ll see facts on the left, each one with a little “i” button. Click there or mouse over for more information about how that fact was determined.

When we’re talking about haplogroup U6a7a1a, it sounds impersonal, but we’re really talking about an actual person whose name, in this case, we will never know. We can determine the ancestor of some haplogroups that formed within a genealogical timeframe. The LeJeune ancestor in question is the person in whose generation the final mutation in a long string of mutations created the final “a” in haplogroup U6a7a1a.

Think of these as a long line of breadcrumbs. By following them backwards in time and determining when and where those breadcrumbs were dropped, meaning when and where the mutation occurred, we begin to understand the history of our ancestor – where she was, when, and which cultures and events shaped her life.

U6a7a1a was formed, meaning this ancestor was born, about 50 CE, so about 1950 years ago. This means that the ancestor of ANY ONE PERSON with this haplogroup could have lived anytime between the year 50 CE and the year of their mother’s birth.

This is VERY important, because there is an incredible amount of  misunderstanding about haplogroup ages and what they mean to you.

The year 50 CE is the year that the common ancestor of EVERY PERSON in the haplogroup was born, NOT the year that the common ancestor of any two or more people was born.

By way of illustration, the LeJeune sisters were born in about 1624 and 1633, respectively, not 50 CE, and their most recent common ancestor (MRCA) is their mother, who would have been born between about 1590 and 1608, based on their birth years.

For reference, I’ve created this genealogical tree from individuals who took the mitochondrial DNA test and have identified their mitochondrial lineage on the LeJeune mother’s profile at Wikitree

You can see that both Edmee and Catherine have mitochondrial DNA testers through multiple daughters. I’ve color coded the MRCA individuals within each group, and of course their mother is the MRCA between any two people who each descend from Edmee and Catherine.

Mitochondrial DNA matches to the LeJeune sisters’ descendants could be related to each other anywhere from the current generation (parent/child) to when the haplogroup formed, about 50 CE.

You can easily see that all of these testers, even compared with their most distant relatives in the group, share a common ancestor born between 1590 and about 1608. Other people when compared within the group share MCRAs born about 1717 (blue), 1778 (peach), 1752 (green), 1684 (pink), 1658 (mustard), and 1633 (red).

Soooooo…a haplogroup born in 50 CE does NOT mean that you won’t be able to find any genealogical connection because your common ancestor with another tester was born more than 1900 years ago. It means that the common ancestor of EVERYONE who is a member of haplogroup U6a7a1a (and downstream haplogroups) was born about 50 CE.

The parent haplogroup of U6a7a1a is haplogroup U6a7a1, which was born about 1450 BCE, or about 3450 years ago.

In the graphic, I’ve shown other unknown genealogical lineages from U6a7a1 and also downstream haplogroups.

Haplogroup U6a7a1 is the MRCA, or most recent common ancestor of haplogroup U6a7a1a, and anyone who descends from haplogroup U6a7a1 or any of the 23 downstream lineages from U6a7a1, including 5 descendant haplogroups and 18 unnamed lineages.

The LeJeune haplogroup, U6a7a1a, has 35 descendant lineages. One downstream haplogroup has already been identified – U6a7a1a2 – which means two or more people share at least one common, stable, mutation, in addition to the mutations that form U6a7a1a. Thirty-four other lineages are as yet unnamed.

The fact that there are 34 unnamed lineages means that people with one or more private variants, or unique mutations, are candidates for a new branch to form when someone else tests and matches them, including those variants.

You’re a candidate for a new haplogroup in the future if no one else matches your haplotype cluster number, or, potentially, as the tree splits and branches upstream.

When a second person in a lineage tests, those two people will not only share a common haplotype cluster F#, they will share a new haplogroup too if their common mutation is not excluded because it’s unstable and therefore unreliable.

There are 127 members of haplogroup U6a7a1a today, and their EKAs are noted as being from France, Canada, the US, and other countries that we’ll view on other pages.

Haplogroup U6a7a1a has been assigned two Discover badges:

  • Imperial Age – “an age noted for the formation and global impact of expansive empires in many parts of the world.” In other words, colonization, which is certainly true of the French who battled with the English to colonize New England, Acadia, and New France.
  • mtFull Confirmed (for testers only)

Additionally, the LeJeune sisters have one Rare Notable Connection, and three Rare Ancient Connections, all of which may shed light on their history.

Takeaways from the Haplogroup Story

  • The Haplogroup Story provides an overview of the haplogroup
  • You can easily see how many testers fall into this haplogroup and where they have indicated as the origin of their matrilineal line.
  • The haplogroup may have several new haplogroup seeds – 34 in this case – the number of unnamed lineages
  • You can share this or other Discover pages with others by using the “share page” link in the upper right-hand corner.
  • Don’t be discouraged by the age of the haplogroup, whether it’s recent or older.

Next, let’s look at Country Frequency.

Country Frequency

Country Frequency shows the locations where testers in haplogroup U6a7a1a indicate that their EKA, or earliest known matrilineal ancestor, is found. The Country Frequency information is NOT limited to just your matches, but all testers in haplogroup U6a7a1a, some of whom may not be on your match list. Remember, only people with 3 mutations difference, or fewer, are on your match list.

Haplogroup distribution around the world is very informative as to where your ancestors came from.

There are two tabs under Country Frequency, and I’d like to start with the second one – Table View.

Table View displays all of the user-provided country locations. Note that the Haplogroup Frequency is the percentage of total testers in which this haplogroup is found in this particular country. These frequencies are almost always quite small and are location-based, NOT haplogroup based.

There are now 40,000 haplogroups, and in haplogroup U, the LeJeune sisters are 6 branches down the tree with U6a7a1a.

In total, 127 testers are members of haplogroup U6a7a1a, and 42 of those claim that their ancestor is from France, which comprises 1% of the people who have taken the full sequence mitochondrial DNA test whose ancestor is from that location.

Let’s do the math so you can see how this is calculated and why it’s typically so small. For our example, let’s say that 8000 people in the database have said their matrilineal ancestor is from France. Of the 127 haplogroup U6a7a1a members, 42 say their ancestor is from France. Divide 42 by 8,000, which is 0.00525, and round to the nearest percentage – which is 1%.

The best aspect of this page is that you can see a nice summary of the locations where people indicate that their earliest known U6a7a1a ancestor was found.

Please note that the last entry, “Unknown Origins,” is the bucket that everyone who doesn’t provide a location falls into. That row is not a total but includes everyone who didn’t provide location information.

These location results make sense for the LeJeune sisters – maybe except for Ireland and Belgium. Some people don’t understand the directions, meaning that a matrilineal ancestor or direct maternal ancestor is NOT your literal “oldest” ancestor on your mother’s side of the tree who lived to be 105, but your mother-to-mother-to-mother-to-mother ancestor, so check to see if these people with unusual locations are in your match list and view their tree or reach out to them.

We don’t know why the person who selected Native American made that choice, but I’d bet it has to do with confusion about the “other” LeJeune female, Jeanne LeJeune dit Briard. Based on Catherine and her sister, Edmee LeJeune’s haplogroup through more than 50 testers, U6a7a1a, Native is incorrect.

Of course, that tester wouldn’t have known that if they completed their EKA information before they tested. Perhaps they entered information based on the stories they had heard, or flawed genealogy, and didn’t think to go back and correct it when their results were ready, indicating that Native was mistaken.

On the “Map View” tab, the locations are shown using a heat map, where the highest percentages are the darkest. Here, both France and Canada are the darkest because that’s the most common selection for this haplogroup with 1% each, while the rest of the countries registered with less <1%.

These colors are comparative to each other, meaning that there is no hard and fast line in the sand that says some percentage or greater is always red.

To summarize these two tables, because this is important:

  • The Table View shows you how many people selected a specific country for their ancestor’s location, but the frequency is almost always very low because it’s based on the total number of testers in the entire database, comprised of all haplogroups, with ancestors from that country.
  • The Map View shows you a heat map for how frequently a particular location was selected, as compared to other locations, for this haplogroup.

To view the difference between adjacent haplogroups, I always compare at least one haplogroup upstream. In this case, that’s the parent haplogroup, U6a7a1.

The Parent Haplogroup

If you look at haplogroup U6a7a1, just one haplogroup upstream, you’ll see that for Mauritania, the total number of U6a7a1 descendants tested is only “1”, but the haplogroup frequency in Mauritania is 10% which means that there are only 10 people who have been tested in the database altogether from Mauritania – and one person is haplogroup U6a7a1.

However, due to substantial under-sampling of the Mauritania population, the frequency for Mauritania, 10%, is higher than any other location.

Also, remember, these are user-reported ancestor locations, and we have no idea if or how these people determined that their ancestor is actually from Mauritania.

Please only enter actual known locations. For example, we don’t want haplogroup U6a7a1 members to look at this informatoin, then add Mauritania as their location because now they “know” that their ancestor is from Mauritania.

On the Map View, Mauritania is dark red because the percentage is so high – never mind that there are only 10 testers who report matrilineal ancestors from there, and only one was U6a7a1.

This map illustrates one reason why taking the full sequence test is important. Viewing partial haplogroups can be deceiving.

Catherine and Edmee LeJeune’s matrilineal descendants who only tested at the HVR1 or HVR1+HVR2 level receive a predicted haplogroup of U6a, born about 21,000 years ago. That’s because the full 16,569 locations of the mitochondria need to be tested in order to obtain a full haplogroup, as opposed to about 500 locations in the HVR1 and HVR1/2, each, respectively.

U6a – The Result for HVR1/HVR2-Only Testers

So, let’s look at what haplogroup U6a reveals, given that it’s what early LeJeune descendants who ordered the lower-level tests will see.

In the Table View for U6a, below, you see that the top 5 counties listed by haplogroup frequency are five North African countries.

A total of 801 people are assigned to haplogroup U6a, meaning the majority, 757, report their ancestors to be from someplace else. If two people from the Western Sahara (Sahrawi) comprise 67% of the people who tested, we know there are only three people who have tested and selected that location for their ancestors.

If you didn’t understand how the display works, you’d look at this report and see that the “top 5” countries are North African, and it would be easy to interpret this to mean that’s where Catherine and Edmee’s ancestors are from. That’s exactly how some people have interpreted their results.

Scrolling on down the Table View, 50 testers report France, and 10 report the US, respectively, with France showing a Haplogroup Frequency of 1% and the US <1%.

The balance of U6a testers’ ancestors are from a total of 57 other countries, plus another 366 who did not select a location. Not to mention that U6a was born 21,000 years ago, and a lot has happened between then and the 1620/1630s when Catherine and Edmee were born to a French mother.

The real “problem” of course is that haplogroup U6a is only a partial haplogroup.

The U6a map shows the highest frequency based on the number of testers per country, which is why it’s dark red, but the Table View reports that the actual number of U6a testers reporting any specific country. France has 50. Next is the US, also with 50, which often means people are brick-walled here. You can view the U6a table for yourself, here.

Why is this relevant for Catherine and Edmee LeJeune? It’s very easy to misinterpret the map, and for anyone viewing U6a results instead of U6a7a1a results, it’s potentially genealogically misleading.

Use Country Frequency with discretion and a full understanding of what you’re viewing, especially for partial haplogroups from HVR1/HVR2 results or autosomal results from any vendor.

If someone tells you that the LeJeune sisters are from someplace other than France, ask where they found the information. If they mention Africa, Morocco or Portugal, you’ll know precisely where they derived the information.

This information is also available on your Maternal Line Ancestry page, under “See More,” just beneath the Matches tab. Haplogroup Origins and Ancestral Origins present the same information in a different format.

Discover is a significant improvement over those reports, but you’ll still need to read carefully, understand the message, and digest the information.

Takeaways from Country Frequency

  • Evaluate the results carefully and be sure to understand how the reports work.
  • Use complete, not partial haplogroups when possible.
  • The Haplogroup Frequency is the number of people assigned to this haplogroup divided by the entire number of people in the database who report that country location for their matrilineal ancestor. It is NOT the percentage of people in ONLY haplogroup U6a7a1a from a specific country.
  • Table view shows the number of testers with this haplogroup, with the percentage calculated per the number of people who have tested in that country location.
  • The Map shows the highest frequency based on the number of testers per country.
  • Use the map in conjunction with the haplogroup age to better understand the context of the message.

Globetrekker, which has not yet been released, will help by tracking your ancestors’ paths from their genesis in Africa to where you initially find that lineage.

Before we move on to the Mitotree, let’s take a minute to understand genetic trees.

About Genetic Trees

The Mitotree is a genetic tree, also called a phylogenetic tree, that generally correlates relatively closely with a genealogical tree. The more testers in a particular haplogroup, the more accurate the tree.

FamilyTreeDNA provides this disclaimer information about the genetic tree. The Mitotree you see is a nice and neat published tree. The process of building the tree is somewhat like making sausage – messy. In this case, the more ingredients, the better the result.

The more people that test, the more genetic information is available to build and expand the tree, and the more accurate it becomes.

The recent Mitotree releases have moved the haplogroup “dates” for the LeJeune sisters from about 21,000 years ago for HVR1/HVR2 U6a testers to 50 CE for full sequence testers, and this may well be refined in future tree releases.

Mutations

Mutations and how to interpret them can be tricky – and this short section is meant to be general, not specific.

Sometimes mutations occur, then reverse themselves, forming a “back mutation”, which is usually counted as a branch defining a new haplogroup. If a back mutation happens repeatedly in the same haplogroup, like a drunken sailor staggering back and forth, that mutation is then omitted from haplogroup branch formation, but is still counted as a mismatch between two testers.

A heteroplasmy is the presence of two or more distinct results for a specific location in different mitochondria in our bodies. Heteroplasmy readings often “come and go” in results for different family members, because they are found at varying threshold levels in different family members, causing mismatches. Heteroplasmies are currently counted only if any person has 20% or greater of two different nucleotides. So, if you have a 19% heteroplasmy read for a particular location, and your sister has 21%, you will “not” have a heteroplasmic condition reported, but she will, and the location will be reported as a mismatch.

If you have a heteroplasmy and another family member does not, or vice versa, it’s counted as as a “mismatch,” meaning you and that family member will find yourselves in different haplotype clusters. Hetroplasmies do not presently define new tree branches. I wrote about heteroplasmies, here.

Takeaways from the Genetic Tree Disclaimer

  • DNA is fluid, mutations happen, and all mutations are not created equal.
  • Thankfully, you really don’t need to understand the nitty-gritty underpinnings of this because the scientists at FamilyTreeDNA have translated your results into reports and features that take all of this into consideration.
  • Testing more people helps refine the tree, which fills in the genetic blanks, refining the dates, and expanding branches of the tree.

Resources:

Ok, now let’s look at the Time Tree

Time Tree

The Time Tree displays your haplogroup on the Mitotree timeline. In other words, it shows us how old the haplogroup is in relation to other haplogroups, and testers.

The Time Tree displays the country locations of the ancestors of testers who are members of that and descendant or nearby haplogroups. You can view the haplogroup U6a7a1a Time Tree, here, and follow along if you wish. Of course, keep in mind that the tree is a living, evolving entity and will change and evolve over time as updated tree versions are released.

Mousing over the little black profile image, which is the person in whom this haplogroup was born, pops up information about the haplogroup. Additionally, you’ll see black bars with a hashed line between them. This is the range of the haplogroup formation date. Additional details about the range can be found on the Scientific Details tab, which we’ll visit shortly.

On your Matches tab, remember that each match has both a haplogroup and a haplogroup cluster F# listed.

On the Time Tree, individual testers are shown at right, with their selected country of origin. In this case, you’ll see the person who selected “Native American” at the top, followed by France, Canada, the US, and other flags.

Haplogroup U6a7a1a includes several haplotype clusters, designated by the rounded red brackets. In this view, we can see several people who have haplotype cluster matches. Everyone has a haplotype assignment, but a haplotype cluster is not formed until two people match exactly.

In the Time Tree view, above, you can see two clusters with two members each, and the top of a third cluster at the bottom.

In case you’re wondering why some of the globes are offset a bit, they positionally reflect the birth era of the tester, rounded to the closest 25 years, if the birth year is provided under Account Settings. If not, the current tester position defaults to 1950.

Scrolling down to the next portion of the window shows that the third cluster is VERY large. Inside the cluster, we see Belgium, Canada, and France, but we aren’t even halfway through the cluster yet.

Continuing to scroll, we see the cluster number, F7753329, in the middle of the cluster, along with the French flag, two from Ireland, four from the US, and the beginning of the large unknown group.

In this fourth screenshot, at the bottom of the display, we see the balance of haplotype cluster #F7753329, along with eight more people who are not members of that haplotype cluster, nor any other haplotype cluster.

Finally, at the bottom, we find haplogroup U6a7a1a2, a descendant haplogroup of U6a7a1a. Are they descendants of the LeJeune sisters?

Looking back at our tester’s match list, the two people who belong to the new haplogroup U6a7a1a2 haven’t provided any genealogical information. No EKA or tree, unfortunately. The haplogroup formation date is estimated as about 1483, but the range extends from about 1244-1679 at the 95th percentile. In other words, these two people could be descendants of:

  • Either Catherine or Edmee LeJeune, but not both, since all of their descendants would be in U6a7a1a2.
  • An unknown sister to Catherine and Edmee.
  • A descendant line of an ancestor upstream of Catherine and Edmee.

Takeaways from the Time Tree

  • The visualization of the matches and haplotype clusters illustrates that the majority of the haplogroup members are in the same haplogroup cluster.
  • Given that two women, sisters, are involved, we can infer that all of the mutations in this haplotype cluster were common to their mother as well.
  • Haplotype cluster #F7753329 includes 19 testers from Catherine and 17 from Edmee.
  • Downstream haplogroup U6a7a1a2 was born in a daughter of haplogroup U6a7a1a, as early as 1244 or as late as 1679. Genealogy information from the two testers could potentially tell us who the mutation arose in, and when.
  • As more haplogroup U6a7a1a2 testers provide information, the better the information about the haplogroup will become, and the formation date can be further refined.

Smaller haplotype clusters have a story to tell too, but for those, we’ll move to the Match Time Tree.

Match Time Tree

The Match Time Tree is one of my favorite reports and displays your matches on the Time Tree. This feature is only available for testers, and you must be signed in to view your Match Time Tree.

By selecting “Share Mode”, the system obfuscates first names and photos so you can share without revealing the identity of your matches. I wrote about using “Share Mode” here. I have further blurred surnames for this article.

The Match Time Tree incorporates the tree view, with time, the names of your matches PLUS their EKA name and country, assuming they have entered that information. This is one of the reasons why the EKA information is so important.

This display is slightly different than the Time Tree, because it’s one of the features you only receive if you’ve taken the mtFull test and click through to Discover from your account.

The Time Tree view is the same for everyone, but the Match Time Tree is customized for each tester.

Your result is shown first, along with your haplotype cluster if you are a member of one.

You can easily see the names of the EKAs below the obfuscated testers’ names.

While we immediately know that descendants of both Catherine and Edmee are found in the large cluster #F7753329, we don’t yet know which ancestors are included in other haplotype clusters.

Haplogroup U6a7a1a includes two smaller haplotype clusters with 2 people each.

We know a few things about each of these clusters:

  • The people in each cluster have mutations that separate them from everyone else except the other person in their cluster
  • The results are identical matches to the other person in the cluster, including less reliable locations such as 309 and 315
  • There are other locations that are excluded from haplogroup formation, but are included in matching, unlike 309 and 315.
  • Given that they match only each other exactly, AND they did not form a new haplogroup, we know that their common unique mutation that causes them to match only each other exactly is unreliable or unstable, regardless of whether it’s 309, 315, a heteroplasmy, or another marker on the list of filtered or excluded variants.

Only the tester can see their own mutations. By inference, they know the mutations of the people in their haplotype cluster, because they match exactly.

If you’re a member of a cluster and you’re seeking to determine your common ancestor, you’ll want to analyze each cluster. I’ve provided two examples, below, one each for the red and purple clusters.

Red Haplotype Cluster #F3714849

Only one person in the red cluster has included their EKA, and the tree of the second person only reaches to three generations. Tracking that line backwards was not straightforward due to the 1755 expulsion of the Acadians from Nova Scotia.

The second person listed their EKA as Edmee LeJeune, but they have a private tree at MyHeritage, so their matches can’t see anything. I wonder if they realize that their matches can’t view their tree.

We are left to wonder if both people descend from Edmee LeJeune, and more specifically, a common ancestor more recently – or if the unstable mutation that they share with each other is simply happenstance.

E-mailing these testers would be a good idea.

Purple Haplotype Cluster #F2149611

Evaluating the purple cluster reveals that the common ancestor is Catherine LeJeune. The question is twofold – how are these two people related downstream from Catherine, and how unstable is their common mutation or mutations.

Fortunately, both people have nice trees that track all the way back to Catherine.

Unfortunately, their MRCA is Francoise, the daughter of Catherine. I say unfortunately, because two additional testers also descend from Francoise, and they don’t have the haplotype cluster mutation. This tells us that the cluster mutation is unreliable and probably not genealogically relevant because it occurred in two of Francoise’s children’s lines independently, but not all four.

In other words, that specific mutation just happened to occur in those two people.

This is exactly why some mutations are not relied upon for haplogroup definition.

Takeaways from the Match Time Tree

  • The time tree is a wonderful visualization tool that shows all of your matches, their EKAs and countries, if provided, in haplotype clusters, on the Time Tree. This makes it easy to see how closely people are related and groups them together.
  • On your match page, you can easily click through to view your matches’ trees.
  • You can use both haplotype clusters (sometimes reliable) and downstream haplogroups (reliable) to identify and define lineages on your family tree. For example, if a third person matches the two in haplogroup U6a7a1a2, the child haplogroup of U6a7a1a, and you could determine the common ancestor of any two of the three, you have a good idea of the genealogical placement of the third person as well.
  • You know that if people form a haplotype cluster, but not a new haplogroup, that their common haplotype cluster-defining mutation is less reliable and may not be genealogically relevant.
  • On the other hand, those less reliable mutations may not be reliable enough for haplogroup definition, but may be relevant to your genealogy and could possibly define lineage splits. Notice all my weasel words like “may,” “may not” and “possibly.” Also, remember our purple cluster example where we know that the mutation in question probably formed independently and is simply chance.
  • I can’t unravel the ancestors of the red cluster – and if I were one of those two people, especially if I didn’t know who my ancestor was, I’d care a lot that the other person didn’t provide a useful tree. Don’t forget that you can always reach out via email, offer to collaborate, and ask nicely for information.
  • We need EKAs, so please encourage your matches to enter their EKA, upload a tree or link to a MyHeritage tree, and enter a Wikitree ID in their FamilyTreeDNA profile, all of which help to identify common ancestors.

Resources:

Classic Tree

FamilyTreeDNA invented the Time Tree and Match Time Tree to display your results in a genealogically friendly way, but there is important information to be gleaned from other tree formats as well.

The Classic Tree presents the Mitotree, haplogroup and haplotype information in the more traditional format of viewing phylogenetic trees, combining their beneficial features. There’s a lot packed in here.

In this default view, all of the Display Options are enabled. We are viewing the LeJeune haplogroup, U6a7a1a, with additional information that lots of people miss.

The countries identified as the location of testers’ earliest known ancestors (EKA) are shown.

Listed just beneath the haplogroup name, five people are members of this haplogroup and are NOT in a haplotype cluster with anyone else, meaning they have unique mutations. When someone else tests and matches them, depending on their mutation(s), a new haplogroup may be formed. If they match exactly, then at least a new haplotype cluster will be formed.

Portions of three haplotype clusters are shown in this screenshot, designated by the F numbers in the little boxes.

Additional information is available by mousing over the images to the right of the haplogroup name.

Mousing over the badge explains the era in which the haplogroup was born. Rapid expansion was taking place, meaning that people were moving into new areas.

Mousing over the date explains that the scientists behind the Mitotree are 95% certain about the date range of the birth of this haplogroup, rounded to 50 CE. Remember, your common ancestor with ALL haplogroup members reaches back to this approximate date, but your common ancestor with any one, or a group, of testers is sometime between the haplogroup formation date, 50 CE, and the present day.

Mousing over the year shows the confidence level, and the date range at that level. These dates will probably be refined somewhat in the future.

If haplogroup members have private variants, it’s likely or at least possible that a new branch will split from this one as more people test

Mousing over the star displays the confidence level of the structure of this portion of the Mitotree based on what could be either confusing or conflicting mutations in the tree. For haplogroup U6a7a1a, there’s no question about the topology, because it has a 10 of 10 confidence rating. In other words, this branch is very stable and not going to fall off the tree.

Every haplogroup is defined by at least one mutation that is absent in upstream branches of the tree. Mutations are called variants, because they define how this sample, or branch, varies from the rest of the branches in the Mitotree.

These two mutations, A2672G and T11929C, are the haplogroup-defining mutations for U6a7a1a. Everyone in haplogroup U6a7a1a will have these two mutations in addition to all of the mutations that define directly upstream haplogroups (with extremely rare exceptions). Haplogroup-defining mutations are additive.

There may be more haplogroup-defining mutations than are displayed, so click on the little paper icons to copy to your clipboard.

You can view upstream haplogroups and downstream haplogroups, if there are any, by following the back arrows to upstream haplogroups, and lines to downstream haplogroups.

For example, I clicked on the arrow beside haplogroup U6a7a1a to view its parent haplogroup, U6a7a1, and a second time to view its parent, haplogroup U6a7a. If I click on the back arrow for U6a7a, I’ll continue to climb up the tree.

Beneath U6a7a, you can see the haplogroup branches, U6a7a1a and U6a7a2.

Beneath U6a7a1, you’ll notice:

  • People who don’t share haplotype clusters with anyone
  • Three haplotype clusters
  • Five descendant haplogroups from U6a7a1, including the LeJeune sister’s haplogroup U6a7a1a.

To expand any haplogroup, just click on the “+”.

You may see icons that are unfamiliar. Mouse over the image or click on the “Show Legend” slider at upper right to reveal the decoder ring, I mean, legend.

You can read more about the symbols and how haplogroups are named, here, and see more about types of mutations in the Scientific Details section.

Takeaways from the Classic Tree

  • The Classic Tree provides a quick summary that includes important aspects of a haplogroup, including when it was formed, which mutations caused it’s formation, and each branch’s confidence level.
  • It’s easy to back your way up the tree to see where your ancestor’s founding haplogroups were located, which speaks to your ancestor’s history. Patterns, paths, and consistency are the key.
  • Ancient DNA locations in your tree can provide a very specific location where a haplogroup was found at a given point in time, but that doesn’t necessarily mean that’s where the haplogroup was born, or that they are your ancestor. We will get to that shortly.
  • You can share this page with others using the “Share Page” function at the top right.

Ancestral Path

The Ancestral Path is a stepping-stone chart where you can view essential information about each haplogroup in one row, including:

  • Age and era
  • Number of years between haplogroups
  • Number of subclades
  • Number of modern-day testers who belong to this haplogroup
  • Number of Ancient Connections that belong to this haplogroup, including all downstream haplogroups

This “at a glance” history of your haplogroup is the “at a glance” history of your ancestors.

The number in the column titled “Immediate Descendants”, which is the number of descendant haplogroups, tells a story.

If you see a large, or “larger” number there, that indicates that several “child” haplogroups have been identified. Translated, this means that nothing universally terrible has occurred to wipe most of the line out, like a volcano erupting, or a famine or plague that would constitute a constraining bottleneck event. Your ancestors’ children survived and apparently thrived, creating many descendant downstream haplogroups, known as an expansion event.

If you see a smaller number, such as rows 5, 7, 8, 9, and 13, each of which have only two surviving branches, yours and another, several branches probably didn’t survive to the present day. This may reflect a bottleneck where only a few people survived or the lines became extinct over time, having no descendants today. Either that, or the right people haven’t yet tested. Perhaps they are living in a particularly undersampled region of the world, a tiny village someplace, or there aren’t many left.

The two most recent haplogroups have the most subclades, indicating that your ancestors were successfully reproducing in the not-too-distant past. Mutations occurred because they randomly do, creating new haplogroups, and several haplogroup members have tested today. Hopefully, genealogy can connect us further.

The next column, “Tested Modern Descendants,” tallies the total number of testers as it rolls up the tree. So, each haplogroup includes the testers in its downstream (child) haplogroups. The 127 people in haplogroup U6a7a1a include the two people in haplogroup U6a7a1a2, and the 226 people in haplogroup U6a7a1 include the 127 people in haplogroup U6a7a1a.

Looking at other types of trees and resources for each haplogroup can suggest where our ancestors were at that time, perhaps correlating with world or regional history that pertains to the lives of those ancestors.

In our case, the LeJeune sisters’ ancestors did well between 3450 years ago through the formation of U6a7a1a, about 1950 years ago. 3500 years ago, in Europe, settlements were being fortified, leadership was emerging as complex social patterns formed, and trade networks developed that spanned the continent and beyond.

Between 20,000 and 3,450 years ago, not so much. This correlates to the time when early European farmers were moving from Anatolia, bringing agriculture to Europe en masse. However, they were not the first people in Europe. Early modern humans arrived and lived in small groups about 50,000 years ago.

And they very nearly didn’t survive. Many lines perished.

Takeaways from the Ancestral Path

  • The Ancestral Path shows the stepping stones back to Mitochondrial Eve, dropping hints along the way where expansions occurred, meaning that your ancestors were particularly successful, or conversely, where a bottleneck occurred and the lineage was in jeopardy of extinction.
  • In some cases, where a lot of time has passed between haplogroups, such as 8,000 years between U and U6, we’re seeing the effect of lineages dying out. However, with each new tester, there’s the possibility of a previously undiscovered branch split being discovered. That’s precisely what happened with haplogroup L7.

Migration Map

The Discover Migration Map shows the path that your ancestor took out of Africa, and where your base ancestral haplogroup was formed.

Mousing over the little red circle displays the haplogroup, and the area where it originated. Based on this location where U6 was found some 31,000 years ago, we would expect to find U6 and subgroups scattered across North Africa, the Levant, and of course, parts of Eurasia and Europe.

It’s interesting that, based on what we know using multiple tools, it appears that haplogroup U initially crossed between the Horn of Africa and the Arabian Peninsula, at the present-day Strait of Bab-el-Mandeb. Today, that crossing is about 15 nautical miles, but the sea level was much lower during earlier times in history, including the last glacial maximum. Humans would have seen land across the water, and could potentially have swum, drifted, or perhaps used early boats.

Over the next 10,000+ years, haplogroup U trekked across the Arabian peninsula into what is present-day Iran, probably moving slowly, generation by generation, then turning back westward, likely in a small group of hunter-gatherers, crossing the Nile Delta into North Africa, present-day Egypt.

They probably fished along the Nile. Food would have been plentiful along rivers and the sea.

It’s exciting to know that the ancestors of the LeJeune sisters lived right here, perhaps for millennia.

There’s more, however.

The Migration Map shows the location of the genetically closest Ancient DNA results to your haplogroup, obtained from archaeological excavations. This mapped information essentially anchors haplogroup branches in locations in both space and time.

Ancient DNA samples are represented by tiny brown trowels. Clicking on each trowel provides summary information about the associated sample(s) in that location.

Takeaways from the Migration Map

  • Scientists have estimated the location where your base haplogroup originated. For the LeJeune sisters, that’s haplogroup U6 in North Africa along the Mediterranean Sea.
  • The trowels show the locations of the genetically closest archaeological samples, aka Ancient Connections, in the FamilyTreeDNA data base.
  • These Ancient Connections displayed on the map may change. New samples are added regularly, so your older samples, except for the oldest two, which remain in place for each tester, will roll off your list when genetically closer Ancient Connections become available.
  • There are no Ancient Connections for the LeJeune sisters in France today, but keep in mind that Europe is closely connected. Today’s French border is only about 25 miles as the crow flies from Goyet, Belgium. France, sea to sea, is only about 500 miles across, and at its closest two points, less than 250 miles.
  • Samples found at these locations span a large timeframe.

There’s a LOT more information to be found in the Ancient Connections.

Ancient Connections

Ancient Connections is one of my favorite Discover features. This information would never have been available, nor synthesized into a usable format, prior to the introduction of Mitotree and mtDNA Discover. Ancient Connections unite archaeology with genealogy.

  • The first thing I need to say about Ancient Connections is that it’s unlikely that these individuals are YOUR direct ancestors. Unlikely does not mean impossible, but several factors, such as location and timeframe need to be considered.
  • What is certain is that, based on their mitochondrial haplogroup, you SHARE a common ancestor at some point in time.
  • Ancient samples can be degraded, with missing genetic location coverage. That means that not every mutation or variant may be able to be read.
  • Different labs maintain different quality criteria, and location alignments may vary, at least somewhat, lab to lab. While this is always true, it’s particularly relevant when comparing ancient DNA results which are already degraded.
  • Samples are dated by archaeologists using a variety of methodologies. FamilyTreeDNA relies on the dates and historical eras provided in the academic papers, but those dates may be a range, or contain errors.
  • Obtaining information from ancient DNA samples isn’t as easy or straightforward as testing living people.

However, the resulting information is still VERY useful and incredibly interesting – filling in blanks with data that could never be discerned otherwise.

Many people mistakenly assume that these Ancient Connections are their ancestors, and most of the time, not only is that not the case, it’s also impossible. For example, a woman who lived in 1725 cannot be the ancestor of two sisters who were born in 1624 and 1633, respectively.

When you click on Ancient Connections, you see a maximum of about 30 Ancient Connections. Information about the genetically closest burial is displayed first, with the most distant last on the list.

Please note that the final two are the oldest and will (likely) never change, or “roll off” your list, unless an even older sample is discovered. When new samples become available and are genetically closer, the oldest other samples, other than the oldest two, do roll off to make space for the closer haplogroups and their corresponding samples.

Obviously, you’ll want to read every word about these burials, because nuggets are buried there. I strongly encourage you to read the associated papers, because these publications reveal snippets of the lives of your haplogroup ancestors and their descendants.

The small pedigree at right illustrates the relationship between the ancient sample and the haplogroup of the tester. Three things are listed:

  1. El Agujero 8, the name assigned by the authors of the paper that published the information about this ancient sample
  2. The haplogroup of the LeJeune descendant who tested
  3. The haplogroup of their common ancestor.

If no haplogroup is specifically stated for the ancient sample, the sample is the same haplogroup as the common shared ancestor (MRCA), meaning the tester and the ancient sample share the same haplogroup.

The Time Tree beneath the description shows the tester’s haplogroup, (or the haplogroup being queried), the ancient sample, and their common ancestral haplogroup.

Let’s analyze this first sample, El Agujero 8.

  • The person whose remains were sampled lived about 1375 years ago (I’ve averaged the range), in the Canary Islands, and is part of the Guanche culture.
  • The Guanche are the indigenous people of the Canary Islands, already established there before the arrival of Europeans and the Spanish conquest of the 1400s.
  • The Guanche people are believed to have arrived in the Canaries sometime in the first millennium BCE (2000-3000 years ago) and were related to the Berbers of North Africa.
  • This makes sense if you consider the Migration map and geographic proximity.
  • Haplogroup U6a7a1, the haplogroup of El Agujero 8, is the shared ancestral haplogroup with the LeJeune sisters.
  • That woman, U6a7a1, lived around 1450 BCE, or 3450 years ago, probably someplace in North Africa, the Mediterranean basin, or even in the Nile Delta region, given the correlation between the Canary Islands settlement, the Berbers, and the Migration Map.
  • This does NOT mean that the ancestor of the LeJeune sisters lived in the Canary Islands. It means that a descendant of their MRCA, haplogroup U6a6a1, the shared common ancestor with the LeJeune sisters, lived in the Canary Islands.

Ancient Connections Chart Analysis Methodology

I create an Ancient Connection chart for each haplogroup I’m dealing with. We’re analyzing the LeJeune sisters today, but I track and analyze the haplogroup for every ancestor whose haplogroup I can find, or for whom I can find a descendant to test.

In this chart, YA=years ago and is based on the year 2000. KYA=thousand years ago, so 10 KYA is 10,000 years ago.

Name Person Lived Location & Culture Haplogroup, Date & Age Shared (MRCA) Haplogroup, Date & Age Note
LeJeune Sisters Born 1624 & 1633 French Acadian U6a7a1a,

50 CE,

1950 YA

U6a7a1a,

50 CE,

1950 YA

In Acadia by 1643/44
El Agujero 8 1375 CE Canary Islands, Guanche U6a7a1

1450 BCE, 3450 YA

U6a7a1 1450 BCE, 3450 YA Guanche arrived in Canaries in 1st millennium BCE, related to Berbers
Djebba 20824 6000 BCE Jebba, Bājah, Tunisia, Neolithic U6a3f3’4’5

c 5000 BCE, 7000 YA

U6a1”9

19,000 BCE, 21,000 YA

This archaeology site is on the northernmost point of North Africa
Djebba 20825 5900 BCE Djebba, Bājah, Tunisia, Neolithic U6a1”9

19,000 BCE, 21,000 YA

U6a1”9

19,000 BCE, 21,000 YA

This archaeology site is on the northernmost point of North Africa
Egyptian Mummy 2973 200 BCE Abusir el-Meleq, Giza, Egypt, Ptolemaic Kingdom U6a3h^,

1450 BCE,

3450 YA

U6a1”9

19,000 BCE, 21,000 YA

Nile Delta probably, paper says they share ancestry with near easterners
Egyptian Mummy 2888 100 BCE Abusir el-Meleq, Giza, Egypt, Ptolemaic Kingdom U6a2a’c,

11,000 BCE,

13,000 YA

U6a1”9

19,000 BCE, 21,000 YA

Nile Delta probably, paper says they share ancestry with near easterners
Segorbe Giant (6’3”) 1050 CE Plaza del Almudín, Valencia, Spain, Islamic necropolis burial U6a1a1, 14,000 BCE, 16,000 YA

 

U6a1”9

19,000 BCE, 21,000 YA

Paper says his genetic makeup is Berber and Islamic Spain, buried in Islamic style on right side facing Mecca.
Sweden Skara 1050 CE Varnhem, Skara, Sweden, Viking Swedish culture U6a1a3a, 7350 BCE, 9350 YA, U6a1”9

19,000 BCE, 21,000 YA

Viking burial

 

Chapelfield 696 1180 CE Chapelfield, Norwich, England, Ashkenazi Jewish Medieval age U6a1b1b. 400 BCE,

2400 YA

 

U6a1”9

19,000 BCE, 21,000KYA

Possibly the 1190 antisemitic Norwich massacre
Montana Mina 38 1200 CE Montana Mina, Lanzarote, Spain (Canary Islands), Guanche culture U6a1a1b1 U6a1”9

19,000 BCE, 21,000 YA

Guanche arrived in Canaries in 1st millennium BCE, related to Berbers
Amina 1725 CE Gaillard Center, Charleston, South Carolina, Enslaved African American burials U6a5b’f’g,

9550 BCE, 11,550 YA,

U6a1”9

19,000 BCE, 21,000 YA

Remains of pre-Civil War enslaved Africans unearthed in Charleston, SC
Doukanet el Khoutifa 22577 4400 BCE Doukanet el Khoutifa, Mars, Tunisia, Maghrebi cultural group U6b,

6500 BCE, 8500 YA

 

U6a’b’d’e, 23,000 BCE, 25,000 YA Late Stone Age, shows some admixture with European Hunter-Gatherers, possibly back and forth from Sicily
Guanche 12 625 CE Tenerife, Spain (Canary Islands), Guanche, Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Guanche arrived in the Canaries in 1st millennium BCE, related to Berbers
Guanche 14 775 CE Tenerife, Spain (Canary Islands), Guanche, Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Antocojo 27 875 CE Antocojo, La Gomera, Spain (Canary Islands) U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Guanche 13 900 CE Cave, Tenerife, Spain (Canary Islands), Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Guanche 1 1090 CE Cave, Tenerife, Spain (Canary Islands), Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Barranco Majona 30 1325 CE Barranco Majona, La Gomera, Spain (Canary Islands), Guanche late Medieval U6b1a1’6’8’9, 1 BCE,

2100 YA

U6a’b’d’e, 23,000 BCE, 25,000 YA Ditto above
Kostenki 14 36,000 BCE Markina Gora, Kostyonki, Voronezh Oblast, Russia U2,

43,000 BCE, 45,000 YA

 

U,

43,000 BCE, 45,000 YA

European/Asian steppe earliest hunter-gatherers. Farming didn’t arrive until 10 KYA. Admixture from Asia as well.
Kostenki 12 31,000 BCE Volkovskaya, Voronezh region, Russian Federation. U2c’e,

43,000 BCE, 45,000 YA

 

U,

43,000 BCE, 45,000 YA

Early hunter-gatherer
Krems 3 29,000 BCE Wachtberg in Krems, Lower Austria, Austria, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Endured the ice age, sophisticated toolmaking, Venus figures, mobile lifestyle, mammoth hunters
Krems Twin 1 28,800 BCE Left bank of the Danube, Krems-Wachtberg, Austria, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Double grave for twins, 1 newborn, one age about 50 days
Krems Twin 2 28,800 BCE Left bank of the Danube, Krems-Wachtberg, Austria, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Ditto above
Vestonice 13 28,900 BCE Pavlovské Hills, South Moravia, Czech Republic, Grevettian culture U8b^,

37,000 BCE, 39,000 YA

 

U,

43,000 BCE, 45,000 YA

Ice Age Europe, few samples before farming introduced. Believe these Gravettian individuals are from a single founder population before being displaced across a wide European region.
Vestonice 14 28,900 BCE Dolni Vestonice, Brezi, Czech Republic, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Ditto above
Vestonice 16 28,900 BCE Dolni Vestonice, Brezi, Czech Republic, Gravettian culture U5,

32,000 BCE,

34,000 YA

U,

43,000 BCE, 45,000 YA

Ditto above
Grotta delle Mura child 15,100 BCE Grotta delle Mura, Bari, Italy, Paleolithic Italian culture U2”10,

43,000 BCE, 45,000 YA

U,

43,000 BCE, 45,000 YA

This baby, interred in a small shoreline cave, was less than 9 months old and had blue eyes
Goyette Q2 13,100 BCE Troisième Caverne, Goyet, Belgium, Magdaleian culture named after the La Madeleine rock shelter in France U8a,

10,000 BCE,

12,000 YA

 

U,

43,000 BCE, 45,000 YA

These hunter-gatherer people may have been responsible for the repopulation of Northern Europe. Cave art, such as that at Altamira, in Northern Spain is attributed to the Magdalenian culture.
Villabruna 1 12,000 BCE Villabruna, Italy, Paleolithic culture U5b2b,

9700 BCE,

11,700 YA

 

U,

43,000 BCE, 45,000 YA

Rock shelter in northern Italy where this man was buried with grave goods typical of a hunter and covered in painted stones with drawings. The walls were painted in red ochre.
Oberkasel 998 12,000 BCE Oberkassel , Bonn, Germany, Western Hunter-Gatherer culture U5b1 U,

43,000 BCE, 45,000 YA

Double burial found in a quarry with 2 domesticated dogs and grave goods. Genis classification was uncertain initially as they were deemed, “close to Neanderthals.”

Creating a chart serves multiple functions.

  1. First, it allows you to track connections methodically. As more become available, older ones fall off the list, but not off your chart.
  2. Second, it allows you to analyze the results more carefully.
  3. Third, it “encourages” you to spend enough time with these ancient humans to understand and absorb information about their lives, travels, and migrations – all of which relate in some way to your ancestors.

When creating this chart, I looked up every shared haplogroup to determine their location and what could be discerned about each one, because their story is the history of the LeJeune sisters, and my history too.

Ok, so I can’t help myself for a minute here. Bear with me while we go on a little Ancient Connections tour. After all, history dovetails with genetics.

How cool is it that the LeJeune sisters’ ancestor, around 20,000 years ago, who lived someplace in the Nile Delta, gave birth to the next 1000 (or so) generations?

Of course, the Great Pyramids weren’t there yet. They were built abotu 4600 years ago.

Those women gave birth to two women about 2200 years ago whose mummified remains were found in the Pyramids at Giza. The associated paper described Egypt in this timeframe as a cultural crossroads which both suffered and benefitted from foreign trade, conquest and immigration from both the Greeks and Romans.

You can read more about burials from this timeframe in The Beautiful Burial in Roman Egypt, here. A crossroads is not exactly what I was expecting, but reading the papers is critically important in understanding the context of the remains. This book is but one of 70 references provided in the paper.

Some burials have already been excavated, and work continues in the expansive pyramid complex.

The Egyptian sun is unforgiving, but Giza eventually gives up her secrets. Will more distant cousins of the LeJeune sisters be discovered as burial chambers continue to be excavated?

We know little about the lives of the women interred at Giza, but the life of another Ancient Connection, Amina, strikes chords much closer to home.

Amina, an enslaved woman, is another descendant of that woman who lived 20,000 years ago. She too is related to the Giza mummies.

Amina was discovered in a previously unknown burial ground in downtown Charleston, SC, that held the remains of enslaved people who had been brought, shackled, from Africa to be sold. Amina’s remains convey her story – that she was kidnapped, forced into the Middle Passage, and miraculously survived. She succumbed around 1725 in Charleston, SC, near the wharf, probably where her prison ship docked.

Charleston was a seaport where more than a quarter million enslaved people disembarked at Gadsden’s Wharf, awaiting their fate on the auction block. The location where Amina’s burial was found is only about 1000 feet from the wharf and is now, appropriately, considered sacred ground. Ohhh, how I’d like to share this information with Amina.

A hundred years earlier, a different ancestor of that women who lived 20,000 years ago gave birth to the mother of the LeJeune sisters, someplace in France.

Moving further back in time, another distant cousin was unearthed at the Kostyonki–Borshchyovo archaeological complex near the Don River in Russia.

Photographed by Andreas Franzkowiak (User:Bullenwächter) – Archäologisches Museum Hamburg und Stadtmuseum Harburg, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=58260865

Markina Gora is an incredibly famous location yielding both specimens included here, as well as this famous Venus figurine from the Gravettian culture, dating from about 27,000 years ago.

Bust of Kostenki 14 reconstructed from the burial.

The earliest of these hunter-gatherers in Europe, believed to be a small group of humans, interbred with Neanderthals. Kostenki 14 carried Neanderthal introgression dating back to about 54,000 years ago.

A layer of volcanic ash, thought to be from a volcano near Naples that erupted about 39,000 years ago, is found above the remains, speaking to events that our ancestors survived after this man lived.

I know we’ve traveled far back in history from the LeJeune sisters, but these ancient humans, the MRCA of each upstream haplogroup, are our ancestors, too.

What does all this mean?

At first glance, it’s easy to assume that all of the locations are relevant to our direct ancestors. Not only that, many people assume that all of these people ARE our ancestors. They aren’t.

Creating the Ancient Conenctions Chart should help you gain perspective about how these people are related to you, your ancestors, and each other.

Each individual person is connected to you and your ancestors in various ways – and their stories weave into yours.

Discover provides everyone has a mini-Timeline for each Ancient Connection. It’s easy to see that the tester, who tested in the modern era, since the year 1950, is not descended from El Agujaro 8, who lived in the 1300s and whose common (shared) haplogroup with the tester, U6a7a1, was born between 2100 BCE and 900 BCE, or between 4100 and 2900 years ago. The most probable date is about 3450 years ago.

The Timeline for each ancient sample includes:

  1. Your haplogroup’s mean birth year
  2. Ancient Connection’s birth year
  3. Ancient Connection’s haplogroup mean birth year, if different from the common haplogroup (in the example above, 3 and 4 are the same)
  4. Birth year of your common ancestor (MRCA), which is your common haplogroup

It’s easy to see the relevant information for each sample, but it’s not easy to visualize the trees together, so I’m creating a “rough” tree in Excel to help visualize the “big picture”, meaning all of the Ancient Connections.

How Do I Know Which Ancient Connections Even MIGHT Be My Ancestors and How We Are All Related?

That’s a great question and is exactly why I created this chart in an ancient haplogroup spreadsheet.

Click on any image to enlarge

In this chart, you can see the LeJeune sisters, in red, at the bottom, and their direct line hereditary haplogroups, in purple, descending from haplogroup U at the top.

Branching to the left and right from intersections with their purple hereditary haplogroups are other branches that the LeJeune sisters don’t share directly. However, the ancient remains that carry those haplogroups are “haplocousins” at a distant point in time, with our LeJeune sisters.

There only two burials that carry the same ancestral haplogroup as the LeJeune sisters:

  1. El Agujero 8, haplogroup U6a7a1 who lived in the Canary Islands in the year 1275
  2. Djebba 20825, who lived in Tunisia about 6,100 years ago

Clearly, Djebba, with a common haplogroup that lived about 21,000 years ago cannot be the ancestor of the LeJeune sisters, but they share a common ancestor. If Djebba was an ancestor of the LeJeune sisters, then Djebba would also descend from haplogroup U6a7, born about 20,600 years ago, like the LeJeune sisters do.

A cursory glance might suggest that since the sample, El Agujero 8 lived in the Canary Islands about 1275, haplogroup U6a7a1 was born there. However, if you read the papers associated with all of the samples found in the Canaries, Tunisia, Spain and other locations, you’ll discover that these populations moved back and forth across the Mediterranean. You’ll also discover that the earliest European haplogroup U samples found in Europe are believed to be the founders of haplogroup U in Europe. It’s possible that U6 dispersed into Italy and Spain, regions with significant exchange with North Africa.

It’s extremely unlikely that El Agujero 8, who lived about the year 1275 CE, was the ancestor of the LeJeune sisters, but it’s not entirely impossible. What’s more likely is that they descended from a common population that moved between Spain, the Canaries, and North Africa where other similar burials are found, like Tunisia. We know that Rome largely conquered France during the Gallic Wars (56-50 BCE), so it’s not terribly surprising that we find haplogroup U6a7a1 and descendants scattered throughout Europe, the Iberian peninsula, the Roman empire, and North Africa.

Sometime between the birth of haplogroup U6a7a1, about 3450 years ago, the descendants of that woman found their way both to France before the 1600s and also to the Canaries before 1275.

Takeaways from Ancient Connections

  • I recommend that you read the associated academic papers and publications that provide the Ancient Connections mitochondrial haplogroups. Those publications are chock full of important cultural information.
  • Globetrekker, which won’t be released until some time after the next release of the Mitotree, will help with tracking the path of your ancestors, especially where it’s complex and uncertain.
  • The “haplosisters” and “haplocousins” of the French LeJeune sisters are quite diverse, including Egyptian pyramid burials in Giza, a Muslim necropolis burial in Spain, a Viking in Sweden, indigenous Canary Islanders, a Tunisian site on the Northern-most tip of Africa, a Jewish burial in England, an enslaved woman in South Carolina, the Markina Gora site in Russia, caves in Austria, the Czech Republic, Belgium, Germany and Italy.
  • Ancient Connections are more than just interesting. On another genealogical line, I found a necropolis burial with my ancestor’s haplogroup located about 9 km from where my ancestor is believed to have lived, dating from just a few hundred years earlier.
  • FamilyTreeDNA adds more Ancient Connections weekly.

Resources

Notable Connections

Notable Connections are similar to Ancient Connections, except they are generally based on modern-day or relatively contemporary testers and associated genealogy. Some samples are included in both categories.

Three Notable Connections are included with the public version of Discover, and additional Notable Connections are provided, when available, for testers who click through from their account.

Some Notable Connections may be close enough in time to be useful for genealogy based on their haplogroup, their haplogroup history, and the tester’s history as well.

In this case, the closest two Notable Connections are both included in Ancient Connections, so we know that the rest won’t be closer in time.

The common ancestor, meaning common haplogroup, of Cheddar Man and the rest, reaches all the way back to haplogroup U, born about 45,000 years ago, so these particular Notable Connections can be considered “fun facts.”

However, if the first (closest) notable connection was a famous person who lived in France in the 1600s, and was the same or a close haplogroup, that could be VERY beneficial information.

Takeaways from Notable Connections

  • Mostly, Notable Connections are just for fun – a way to meet your haplocousins.
  • Notable Connections are a nice way to emphasize that we are all connected – it’s only a matter of how far back in time.
  • That said, based on the haplogroup, location and date, you may find Notable Connections that hold hints relevant to your ancestry.

Scientific Details

Scientific Details includes two pages: Age Estimates and Variants.

Scientific Details Age Estimates

Haplogroup ages are calculated using a molecular clock that estimates when the mutation defining a particular haplogroup first arose in a woman.

Since we can’t go back in time, test everyone, and count every single generation between then and now – scientists have to reconstruct the phylogenetic tree.

The more people who test, the more actual samples available to use to construct and refine the Mitotree.

The “mean” is the date calculated as the most likely haplogroup formation date.

The next most likely haplogroup formation range is the 68% band. As you can see, it’s closest to the center.

The 95% and 99% likelihood bands are most distant.

I know that 99% sounds “better” than 68%, but in this case, it isn’t. In fact, it’s just the opposite – 99% takes in the widest range, so it includes nearly all possibile dates, but the center of the range is the location most likely to be accurate.

The full certainty range is the entire 100% range, but is extremely broad. The mean is  the date I normally use, UNLESS WE ARE DEALING WITH CONTEMPORARY DATES.

For example, if the LeJeune sisters’ haplogroup was formed in 1550 CE at the mean, I’d be looking at the entire range. Do their approximate birth years of 1624 and 1633 fall into the 68% range, or the 95% range, and what are the years that define those ranges?

Scientific Details Variants

Next, click on the Variants tab.

To view your haplotype cluster, the F#, and your private variants, slide “Show private variants” at upper right above the black bar to “on.” This feature is only available for testers who sign in and click through to mtDNA Discover from their page.

The Variants tab provides lots of information, beginning with a summary of your:

  • Haplotype cluster F number, which I’ve blurred
  • Private variants, if any
  • End-of-branch haplogroup information

The most granular information is shown first.

Your haplotype cluster number is listed along with any private variants available to form a new haplogroup. In this case, there are no private variants for these haplotype cluster members. Every cluster is different.

Just beneath that, listed individually, are the variants, aka SNPs, aka mutations that identify each haplogroup. The haplogroup with the red square is yours.

Everyone in this haplogroup shares these two mutations: A2672G and T11929C. Because two variants define this haplogroup, it’s possible that one day it will split if future testers have one but not the other variant.

Information in the following columns provides details about each mutation. For example, the first mutation shown for haplogroup U6a7a1a is a transition type SNP mutation in the coding region, meaning it’s only reported in the full sequence test, where the A (Adenine) nucleotide, which is ancestral, mutated to a G (Guanine) nucleotide which is derived. This is essentially before (reference) and after (derived).

If you mouse over the Weight column, you’ll see a brief explanation of how each mutation is ranked. Essentially, rarer mutation types and locations are given more weight than common or less stable mutation types and/or locations.

Mutations with orange and red colors are less stable than green mutations.

Following this list from top to bottom essentially moves you back in time from the most recently born haplogroup, yours, to haplogroup L1”7, the first haplogroup in this line to branch from Mitochondrial Eve, our common ancestor who lived about 143,000 years ago in Africa.

View More

Clicking on the “View More” dropdown exposes additional information about the various types of mutations and Filtered Variants. Filtered Variants, in the current version of the Mitotree, are locations combined with specific mutation types that are excluded from branch formation.

Please note that this list may change from time to time as the tree is updated.

Takeaways from Scientific Details

  • Based on the Age Estimate for haplogroup U6a7a1a, it’s most likely to have formed about the year 29, but could have formed anytime between about 186 BCE and 230 CE. While this range may not be terribly relevant for older haplogroups, ranges are very important for haplogroups formed in a genealogical era.
  • People who are members of this example haplotype cluster do not have any private variants, so they are not candidates to receive a new haplogroup unless the upstream tree structure itself changes, which is always possible.
  • A significant amount of additional scientific information is available on these two tabs.
  • A list of locations currently excluded from haplogroup formation is displayed by clicking on the “View more” dropdown, along with information about various types of mutations. This list will probably change from time to time as the tree is refined.

Compare

Compare is a feature that allows you to compare two haplogroups side by side.

Let’s say we have an additional woman named LeJeune in Acadia, aside from Catherine and Edmee. As it happens, we do, and for a very long time, assumptions were made that these three women were all sisters.

Jeanne LeJeune dit Briard was born about 1659 and died after 1708. She is the daughter of unknown parents, but her father is purported to be Pierre LeJeune born about 1656, but there’s no conclusive evidence about any of that.

Jeanne LeJeune dit Briard married twice, first to Francois Joseph. Their daughter, Catherine Joseph’s marriage record in 1720 lists Jeanne, Catherine’s mother, as “of the Indian Nation.”

Several direct matrilineal descendants of Jeanne LeJeune dit Briard have joined the Acadian AmerIndian DNA Project, revealing her new Mitotree haplogroup as haplogroup A2f1a4+12092, which is Native American.

If Jeanne LeJeune dit Briard born about 1659, and Edmee and Catherine LeJeune, born about 1624 and 1633, respectively, are full or matrilineal half-siblings, their mitochondrial DNA haplogroups would match, or very closely if a new branch had formed in a descendant since they lived.

Let’s use the Compare feature to see if these two haplogroups are even remotely close to each other.

Click on “Compare.”

The first haplogroup is the one you’re searching from, and you’ll choose the one to compare to.

Click on “Search a haplogroup” and either select or type a haplogroup.

The two haplogroups are shown in the little pedigree chart. The origin dates of both haplogroups are shown, with their common shared ancestor (MRCA) positioned at the top. The most recent common, or shared, ancestor between Jeanne LeJeune dit Briard, who was “of the Indian Nation” and Catherine and Edmee LeJeune is haplogroup N+8701, a woman born about 53,000 years ago.

There is absolutely NO QUESTION that these three women DO NOT share the same mother.

Jeanne LeJeune dit Briard is matrilineally Native, and sisters Caterine and Edmee LeJeune are matrilineally European.

Takeaways from Compare

  • The MRCA between Jeanne LeJeune dit Briard and sisters, Edmee and Catherine LeJeune is about 53,000 years ago.
  • Jeanne was clearly not their full or maternal sister.
  • Compare provides an easy way to compare two haplogroups.

Suggested Projects

Projects at FamilyTreeDNA are run by volunteer project administrators. Some projects are publicly viewable, and some are not. Some project results pages are only visible to project members or are completely private, based on settings selected by the administrator.

When testers join projects, they can elect to include or exclude their results from the public project display pages, along with other options.

The “Suggested Projects” report in Discover provides a compilation of projects that others with the haplogroup you’re viewing have joined. Keep in mind that they might NOT have joined due to their mitochondrial DNA. They may have joined because of other genealogical lines.

While these projects aren’t actually “suggested”, per se, for you to join, they may be quite relevant. Viewing projects that other people with this haplogroup have joined can sometimes provide clues about the history of the haplogroup, or their ancestors, and therefore, your ancestors’ journey.

Remember, you (probably) won’t match everyone in your haplogroup on your matches page, or the Match Time Tree, so projects are another avenue to view information about the ancestors and locations of other people in this haplogroup. The projects themselves may provide clues. The haplogroup projects will be relevant to either your haplogroup, or a partial upstream haplogroup.

The haplogroup U6 project includes multiple U6 daughter haplogroups, not just U6a7a1a, and includes testers whose ancestors are from many locations.

The U6 project has labeled one group of 38 members the “Acadian cluster.” Of course, we find many descendants of Catherine and Edmee LeJeune here, along with testers who list their earliest known ancestor (EKA) as a non-Acadian woman from a different location.

The ancestors of Martha Hughes, who lived in Lynn, Massachusetts, and Mary Grant from Bathhurst, New Brunswick may well be descendants of Edmee or Catherine.

Or, perhaps they are a descendant of another person who might be a connection back to France. If you’re the Hughes or Grant tester, you may just have tested your way through a brick wall – and found your way to your LeJeune ancestors. If you’re a LeJeune descendant, you might have found a link through one of those women to France. Clearly, in either case, additional research is warranted.

For descendants of Catherine and Edmee, you’re looking for other testers, probably from France, whose ancestors are unknown or different from Edmee and Catherine. That doesn’t mean their genealogy is accurate, but it does merit investigation.

Check to see if someone with that EKA is on your match list, then check their tree.

For Catherine and Edmee LeJeune, other than Martha and Mary, above, there was only one EKA name of interest – a name of royalty born in 1606. However, research on Marie Bourbon shows that she was not the mother of the LeJeune sisters, so that tester is either incorrect, or confused about what was supposed to be entered in the EKA field – the earliest known direct matrilineal ancestor.

You may also find people in these projects who share your ancestor, but have not upgraded to the full sequence test. They will have a shorter version of the haplogroup – in this case, just U6a. If they are on your match list and their results are important to your research, you can reach out to them and ask if they will upgrade.

If you’re working on an ancestor whose mitochondrial DNA you don’t carry, you can contact the project administrator and ask them to contact that person, offering an upgrade.

Takeaways from Suggested Projects

  • Suggested Projects is a compilation of projects that other people with this haplogroup have joined. Haplogroup-specific projects will be relevant, but others may or may not be.
  • Testers may have joined other projects based on different lineages that are not related to their mitochondrial line.

We’re finished reviewing the 12 Discover reports, but we aren’t finished yet with the LeJeune analysis.

Another wonderful feature offered by FamilyTreeDNA is Advanced Matching, which allows you to search using combinations of tests and criteria. You’ll find Advanced Matching on your dashboard.

Advanced Matching

Advanced Matching, found under “Additional Tests and Tools,” is a matching tool for mitochondrial DNA and other tests that is often overlooked.

You select any combination of tests to view people who match you on ALL of the combined tests or criteria.

Be sure to select “yes” for “show only people I match in all selected tests,” which means BOTH tests. Let’s say you match 10 people on both the mitochondrial DNA and Family Finder tests. By selecting “Yes,” you’ll see only those 10 people. Otherwise you’ll get the list of everyone who matches you on both tests individually. If you have 100 mitochondrial matches, and 2000 autosomal matches, you’ll see all 2100 people – which is not at all what you want. You wanted ONLY the people who match you on both tests – so be sure to select “yes.”

The combination of the FMS, full sequence test, plus Family Finder displays just the people you match on both tests – but keep in mind that it’s certainly possible that you match those people because of different ancestors. This does NOT mean you match on both tests thanks to the LeJeune sisters. You could match another tester because of a different Acadian, or other, ancestor.

This is especially true in endogamous populations, or groups, like the Acadians, with a significant degree of pedigree collapse.

Advanced Matching Tip

You can also select to match within specific projects. This may be especially useful for people who don’t carry the mitochondrial DNA of the LeJeune sisters, but descend from them.

Switching to my own test, I’ve selected Family Finder, and the Acadian AmerIndian Project, which means I’ll see everyone who matches me on the Family Finder test AND is a member of that project.

Given that I’ve already identified the haplogroup of Catherine LeJeune, I can use known haplogroups to filter autosomal matches, especially in focused projects such as the Acadian AmerIndian Project. This helps immensely to identify at least one way you’re related to other testers.

By clicking on the match’s name, I can see their EKA information. By clicking on their trees, I can verify the ancestral line of descent.

Of course, in Acadian genealogy, I’m probably related to these cousins through more than one ancestor, but using Advanced Matching, then sorting by haplogroup is a great way to identify at least one common ancestor!

Takeaways from Advanced Matching

  • Advanced Matching is a wonderful tool, but make sure you’re using it correctly. Click “Yes” to “Show only people I match in all selected tests.” Please note that if you select all three levels of mtDNA test, and you don’t match at the HVR1 level due to a mutation, that person won’t be shown as a match because you don’t match them on all test levels selected. I only select “FMS” and then my second test.
  • You may match someone on either Y-DNA or mitochondrial DNA and the autosomal Family Finder through different ancestral lines.
  • Advanced Matching is a great way to see who you match within a project of specific interest – like the Acadian AmerIndian Project for the LeJeune sisters.
  • You will match people outside of projects, so don’t limit your analysis.

Drum Roll – LeJeune Analysis

It’s finally time to wrap up our analysis.

The original questions we wanted to answer were:

  • Were Edmee and Catherine LeJeune actually sisters?
  • Was their mother Native American?
  • Was the third woman, Jeanne LeJeune dit Briard, also their sister?
  • Are there any other surprises we need to know about?

We now have answers, so let’s review our evidence.

  • Based on the haplogroup of Edmee and Catherine LeJeune both, U6a7a1a, which is clearly NOT of Native American origin, we can conclude that they are NOT Native American through their matrilineal side.
  • Native American haplogroups are subsets of five base haplogroups, and U is not one of them.

There’s other information to be gleaned as well.

  • Based on the haplogroup of Jeanne LeJeune dit Briard, A2f1a4+12092, plus her daughter’s marriage record, we can conclude that (at least) her mother was Native American.
  • Based on Jeanne’s Native American haplogroup alone, we can conclude that she is not the full sister of the Catherine and Edmee LeJeune.
  • Based on Jeanne’s birth date, about 1659, it’s clear that she cannot be the full sibling of Catherine born about 1633, and Edmee LeJeune, born about 1624, and was probably a generation too late to be their paternal half sister. Later lack of dispensations also suggests that they were not half-siblings.
  • Based on the known Acadian history, confirmed by contemporaneous records, we can state conclusively that Edmee LeJeune was born in France and Catherine probably was as well. The first Acadian settlement did not occur until 1632, and the first known families arrived in 1636.
  • Based on the fact that Catherine and Edmee’s haplogroups match, and many of their descendants’ mitochondrial DNA matches exactly, combined with later dispensations, we can conclude that Catherine and Edmee were sisters.
  • We can conclusively determine that Catherine and Edmee were NOT Native on their matrilineal side, and given that they were born in France, their father would have been European as well. However, we cannot determine whether their descendants married someone who was either Native or partially Native.
  • We know that information for partial haplogroup U6a, provided for HVR1 and HVR1+HVR2-only testers is not necessarily relevant for full sequence haplogroup U6a7a1a.
  • The recent Mitotree release has moved the haplogroup “dates” for the LeJeune sisters from about 21,000 years ago for HVR1/HVR2 U6a testers to 50 CE for full sequence testers,. These dates may well be refined in future tree releases.
  • Having multiple testers has provided us with an avenue to garner a massive amount of information about the LeJeune sisters, in spite of the fact that their haplogroup was born about 50 CE.
  • The LeJeune sisters are related to, but not descended from many very interesting Ancient Connections. Using our Ancient Connections spreadsheet, we can rule out all but one Ancient Connection as being a direct ancestor of the LeJeune sisters, but they are all “haplocousins,” and share common ancestors with the sisters.
  • While we cannot rule out the genetically closest Ancient Connection, El Agujero 8, who lived about 1275 CE in the Canary Islands as their direct ancestor, it’s very unlikely. It’s more probable that they share a common ancestor in haplogroup U6a7a1 who lived about 3450 years ago, whose descendants spread both into France by the 1600s and the Canary Islands by the 1200s.

By now, you’re probably thinking to yourself that you know more about my ancestors than your own. The good news is that mitochodnrial DNA testing and mtDNA Discover is available for everyone – so you can learn as much or more about your own ancestors.

Spread Encouragement – Be a Positive Nellie!

Unfortunately, sometimes people are discouraged from mitochondrial DNA testing because they are told that mitochondrial haplogroups are “too old,” and matches “are too distant.” Remember that the MRCA of any two people, or groups of people is sometime between the haplogroup formation date, and the current generation – and that’s the information we seek for genealogy.

Furthermore, it’s those distant matches, beyond the reach of autosomal matching, that we need to break down many brick walls – especially for female ancstors. I offer testing scholarships for ancestors whose mitochondrial DNA is not yet represented. It’s information I can’t obtain any other way, and I’ve broken through many brick walls!

We don’t know what we don’t know, and we’ll never know unless we take the test.

Imagine how much could be gained and how many brick walls would fall if everyone who has tested their autosomal DNA would also take a mitochondrial DNA test.

Which ancestors mitochodrial DNA do you need? The best place to start is with your own, plus your father’s, which gives you both grandmother’s mtDNA and directly up those lines until you hit that brick wall that needs to fall.

Additional Resources

Roberta’s Books:

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Top Ten RootsTech 2022 DNA Sessions + All DNA Session Links

The official dates of RootsTech 2022 were March 3-5, but the sessions and content in the vendor booths are still available. I’ve compiled a list of the sessions focused on DNA, with web links on the RootsTech YouTube channel

YouTube reports the number of views, so I was able to compile that information as of March 8, 2022.

I do want to explain a couple of things to add context to the numbers.

Most speakers recorded their sessions, but a few offered live sessions which were recorded, then posted later for participants to view. However, there have been glitches in that process. While the sessions were anticipated to be available an hour or so later, that didn’t quite happen, and a couple still aren’t posted. I’m sure the presenters are distressed by this, so be sure to watch those when they are up and running.

The Zoom rooms where participants gathered for the live sessions were restricted to 500 attendees. The YouTube number of views does not include the number of live viewers, so you’ll need to add an additional number, up to 500.

When you see a number before the session name, whether recorded or live, that means that the session is part of a series. RootsTech required speakers to divide longer sessions into a series of shorter sessions no longer than 15-20 minutes each. The goal was for viewers to be able to watch the sessions one after the other, as one class, or separately, and still make sense of the content. Let’s just say this was the most challenging thing I’ve ever done as a presenter.

For recorded series sessions, these are posted as 1, 2 and 3, as you can see below with Diahan Southard’s sessions. However, with my live session series, that didn’t happen. It looks like my sessions are a series, but when you watch them, parts 1, 2 and 3 are recorded and presented as one session. Personally, I’m fine with this, because I think the information makes a lot more sense this way. However, it makes comparisons difficult.

This was only the second year for RootsTech to be virtual and the conference is absolutely HUGE, so live and learn. Next year will be smoother and hopefully, at least partially in-person too.

When I “arrived” to present my live session, “Associating Autosomal DNA Segments With Ancestors,” my lovely moderator, Rhett, told me that they were going to livestream my session to the RootsTech page on Facebook as well because they realized that the 500 Zoom seat limit had been a problem the day before with some popular sessions. I have about 9000 views for that session and more than 7,400 of them are on the RootsTech Facebook page – and that was WITHOUT any advance notice or advertising. I know that the Zoom room was full in addition. I felt kind of strange about including my results in the top ten because I had that advantage, but I didn’t know quite how to otherwise count my session. As it turns out, all sessions with more than 1000 views made it into the top ten so mine would have been there one way or another. A big thank you to everyone who watched!

I hope that the RootsTech team notices that the most viewed session is the one that was NOT constrained by the 500-seat limited AND was live-streamed on Facebook. Seems like this might be a great way to increase session views for everyone next year. Hint, hint!!!

I also want to say a huge thank you to all of the presenters for producing outstanding content. The sessions were challenging to find, plus RootsTech is always hectic, even virtually. So, I know a LOT of people will want to view these informative sessions, now that you know where to look and have more time. Please remember to “like” the session on YouTube as a way of thanking your presenter.

With 140 DNA-focused sessions available, you can watch a new session, and put it to use, every other day for the next year! How fun is that! You can use this article as your own playlist.

Please feel free to share this article with your friends and genealogy groups so everyone can learn more about using DNA for genealogy.

Ok, let’s look at the top 10. Drum roll please…

Top 10 Most Viewed RootsTech Sessions

Session Title Presenter YouTube Link Views
1 1. Associating Autosomal DNA Segments With Ancestors Roberta Estes (live) https://www.youtube.com/watch?v=_IHSCkNnX48

 

~9000: 1019 + 500 live viewers + 7,400+ Facebook
2 1. What to Do with Your DNA Test Results in 2022 (part 1 of 3) Diahan Southard https://www.youtube.com/watch?v=FENAKAYLXX4 7428
3 Who Is FamilyTreeDNA? FamilyTreeDNA – Bennett Greenspan https://www.youtube.com/watch?v=MHFtwoatJ-A 2946
4 2. What to Do with Your DNA Test Results in 2022 (part 2 of 3) Diahan Southard https://www.youtube.com/watch?v=mIllhtONhlI 2448
5 Latest DNA Painter Releases DNAPainter Jonny Perl (live) https://www.youtube.com/watch?v=iLBThU8l33o 2230 + live viewers
6 DNA Painter Introduction DNAPainter – Jonny Perl https://www.youtube.com/watch?v=Rpe5LMPNmf0 1983
7 3. What to Do with Your DNA Test Results in 2022 (part 3 of 3) Diahan Southard https://www.youtube.com/watch?v=hemY5TuLmGI 1780
8 The Tree of Mankind Age Estimates Paul Maier https://www.youtube.com/watch?v=jjkL8PWAEwk 1638
9 A Sneak Peek at FamilyTreeDNA Coming Attractions FamilyTreeDNA (live) https://www.youtube.com/watch?v=K9sKqNScvnE 1270 + live viewers

 

10 Extending Time Horizons with DNA Rob Spencer (live) https://www.youtube.com/watch?v=wppXD1Zz2sQ 1037 + live viewers

 

All DNA-Focused Sessions

I know you’ll find LOTS of goodies here. Which ones are your favorites?

  Session Presenter YouTube Link Views
1 Estimating Relationships by Combining DNA from Multiple Siblings Amy Williams https://www.youtube.com/watch?v=xs1U0ohpKSA 201
2 Overview of HAPI-DNA.org Amy Williams https://www.youtube.com/watch?v=FjNiJgWaBeQ 126
3 How do AncestryDNA® Communities help tell your story? | Ancestry® Ancestry https://www.youtube.com/watch?v=EQNpUxonQO4 183

 

4 AncestryDNA® 201 Ancestry – Crista Cowan https://www.youtube.com/watch?v=lbqpnXloM5s

 

494
5 Genealogy in a Minute: Increase Discoveries by Attaching AncestryDNA® Results to Family Tree Ancestry – Crista Cowan https://www.youtube.com/watch?v=iAqwSCO8Pvw 369
6 AncestryDNA® 101: Beginner’s Guide to AncestryDNA® | Ancestry® Ancestry – Lisa Elzey https://www.youtube.com/watch?v=-N2usCR86sY 909
7 Hidden in Plain Sight: Free People of Color in Your Family Tree Cheri Daniels https://www.youtube.com/watch?v=FUOcdhO3uDM 179
8 Finding Relatives to Prevent Hereditary Cancer ConnectMyVariant – Dr. Brian Shirts https://www.youtube.com/watch?v=LpwLGgEp2IE 63
9 Piling on the chromosomes Debbie Kennett https://www.youtube.com/watch?v=e14lMsS3rcY 465
10 Linking Families With Rare Genetic Condition Using Genealogy Deborah Neklason https://www.youtube.com/watch?v=b94lUfeAw9k 43
11 1. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=FENAKAYLXX4 7428
12 1. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=hemY5TuLmGI 1780
13 2. What to Do with Your DNA Test Results in 2022 Diahan Southard https://www.youtube.com/watch?v=mIllhtONhlI 2448
14 DNA Testing For Family History Diahan Southard https://www.youtube.com/watch?v=kCLuOCC924s 84

 

15 Understanding Your DNA Ethnicity Estimate at 23andMe Diana Elder

 

https://www.youtube.com/watch?v=xT1OtyvbVHE 66
16 Understanding Your Ethnicity Estimate at FamilyTreeDNA Diana Elder https://www.youtube.com/watch?v=XosjViloVE0 73
17 DNA Monkey Wrenches Katherine Borges https://www.youtube.com/watch?v=Thv79pmII5M 245
18 Advanced Features in your Ancestral Tree and Fan Chart DNAPainter – Jonny Perl https://www.youtube.com/watch?v=4u5Vf13ZoAc 425
19 DNA Painter Introduction DNAPainter – Jonny Perl https://www.youtube.com/watch?v=Rpe5LMPNmf0 1983
20 Getting Segment Data from 23andMe DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=8EBRI85P3KQ 134
21 Getting segment data from FamilyTreeDNA DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=rWnxK86a12U 169
22 Getting segment data from Gedmatch DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=WF11HEL8Apk 163
23 Getting segment data from Geneanet DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=eclj8Ap0uK4 38
24 Getting segment data from MyHeritage DNA matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=9rGwOtqbg5E 160
25 Inferred Chromosome Mapping: Maximize your DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=tzd5arHkv64 688
26 Keeping track of your genetic family tree in a fan chart DNAPainter – Jonny Perl https://www.youtube.com/watch?v=W3Hcno7en94 806

 

27 Mapping a DNA Match in a Chromosome Map DNAPainter – Jonny Perl https://www.youtube.com/watch?v=A61zQFBWaiY 423
28 Setting up an Ancestral Tree and Fan Chart and Exploring Tree Completeness DNAPainter – Jonny Perl https://www.youtube.com/watch?v=lkJp5Xk1thg 77
29 Using the Shared cM Project Tool to Evaluate DNA Matches DNAPainter – Jonny Perl https://www.youtube.com/watch?v=vxhn9l3Dxg4 763
30 Your First Chromosome Map: Using your DNA Matches to Link Segments to Ancestors DNAPainter – Jonny Perl https://www.youtube.com/watch?v=tzd5arHkv64 688
31 DNA Painter for absolute beginners DNAPainter (Jonny Perl) https://www.youtube.com/watch?v=JwUWW4WHwhk 1196
32 Latest DNA Painter Releases DNAPainter (live) https://www.youtube.com/watch?v=iLBThU8l33o 2230 + live viewers
33 Unraveling your genealogy with DNA segment networks using AutoSegment from Genetic Affairs Evert-Jan Blom https://www.youtube.com/watch?v=rVpsJSqOJZI

 

162
34 Unraveling your genealogy with genetic networks using AutoCluster Evert-Jan Blom https://www.youtube.com/watch?v=ZTKSz_X7_zs 201

 

 

35 Unraveling your genealogy with reconstructed trees using AutoTree & AutoKinship from Genetic Affairs Evert-Jan Blom https://www.youtube.com/watch?v=OmDQoAn9tVw 143
36 Research Like a Pro with DNA – A Genealogist’s Guide to Finding and Confirming Ancestors with DNA Family Locket Genealogists https://www.youtube.com/watch?v=NYpLscJJQyk 183
37 How to Interpret a DNA Network Graph Family Locket Genealogists – Diana Elder https://www.youtube.com/watch?v=i83WRl1uLWY 393
38 Find and Confirm Ancestors with DNA Evidence Family Locket Genealogists – Nicole Dyer https://www.youtube.com/watch?v=DGLpV3aNuZI 144
39 How To Make A DNA Network Graph Family Locket Genealogists – Nicole Dyer https://www.youtube.com/watch?v=MLm_dVK2kAA 201
40 Create A Family Tree With Your DNA Matches-Use Lucidchart To Create A Picture Worth A Thousand Words Family Locket Genealogists – Robin Wirthlin https://www.youtube.com/watch?v=RlRIzcW-JI4 270
41 Charting Companion 7 – DNA Edition Family Tree Maker https://www.youtube.com/watch?v=k2r9rkk22nU 316

 

42 Family Finder Chromosome Browser: How to Use FamilyTreeDNA https://www.youtube.com/watch?v=w0_tgopBn_o 750

 

 

43 FamilyTreeDNA: 22 Years of Breaking Down Brick Walls FamilyTreeDNA https://www.familysearch.org/rootstech/session/familytreedna-22-years-of-breaking-down-brick-walls Not available
44 Review of Autosomal DNA, Y-DNA, & mtDNA FamilyTreeDNA  – Janine Cloud https://www.youtube.com/watch?v=EJoQVKxgaVY 77
45 Who Is FamilyTreeDNA? FamilyTreeDNA – Bennett Greenspan https://www.youtube.com/watch?v=MHFtwoatJ-A 2946
46 Part 1: How to Interpret Y-DNA Results, A Walk Through the Big Y FamilyTreeDNA – Casimir Roman https://www.youtube.com/watch?v=ra1cjGgvhRw 684

 

47 Part 2: How to Interpret Y-DNA Results, A Walk Through the Big Y FamilyTreeDNA – Casimir Roman https://www.youtube.com/watch?v=CgqcjBD6N8Y

 

259
48 Big Y-700: A Brief Overview FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=IefUipZcLCQ 96
49 Mitochondrial DNA & The Million Mito Project FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=5Zppv2uAa6I 179
50 Mitochondrial DNA: What is a Heteroplasmy FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=ZeGTyUDKySk 57
51 Y-DNA Big Y: A Lifetime Analysis FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=E6NEU92rpiM 154
52 Y-DNA: How SNPs Are Added to the Y Haplotree FamilyTreeDNA – Janine Cloud https://www.youtube.com/watch?v=CGQaYcroRwY 220
53 Family Finder myOrigins: Beginner’s Guide FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=VrJNpSv8nlA 88
54 Mitochondrial DNA: Matches Map & Results for mtDNA FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=YtA1j01MOvs 190
55 Mitochondrial DNA: mtDNA Mutations Explained FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=awPs0cmZApE 340

 

56 Y-DNA: Haplotree and SNPs Page Overview FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=FOuVhoMD-hw 432
57 Y-DNA: Understanding the Y-STR Results Page FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=gCeZz1rQplI 148
58 Y-DNA: What Is Genetic Distance? FamilyTreeDNA – Katy Rowe https://www.youtube.com/watch?v=qJ6wY6ILhfg 149
59 DNA Tools: myOrigins 3.0 Explained, Part 1 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=ACgY3F4-w78 74

 

60 DNA Tools: myOrigins 3.0 Explained, Part 2 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=h7qU36bIFg0 50
61 DNA Tools: myOrigins 3.0 Explained, Part 3 FamilyTreeDNA – Paul Maier https://www.youtube.com/watch?v=SWlGPm8BGyU 36
62 African American Genealogy Research Tips FamilyTreeDNA – Sherman McRae https://www.youtube.com/watch?v=XdbkM58rXIQ 153

 

63 Connecting With My Ancestors Through Y-DNA FamilyTreeDNA – Sherman McRae https://www.youtube.com/watch?v=xbo1XnLkuQU 200
64 Join The Million Mito Project FamilyTreeDNA (Join link) https://www.familysearch.org/rootstech/session/join-the-million-mito-project link
65 View the World’s Largest mtDNA Haplotree FamilyTreeDNA (Link to mtDNA tree) https://www.familytreedna.com/public/mt-dna-haplotree/L n/a
66 View the World’s Largest Y Haplotree FamilyTreeDNA (Link to Y tree) https://www.familytreedna.com/public/y-dna-haplotree/A link
67 A Sneak Peek at FamilyTreeDNA Coming Attractions FamilyTreeDNA (live) https://www.youtube.com/watch?v=K9sKqNScvnE 1270 + live viewers

 

68 DNA Upload: How to Transfer Your Autosomal DNA Data FamilyTreeDNA -Katy Rowe https://www.youtube.com/watch?v=CS-rH_HrGlo 303
69 Family Finder myOrigins: How to Compare Origins With Your DNA Matches FamilyTreeDNA -Katy Rowe https://www.youtube.com/watch?v=7mBmWhM4j9Y 145
70 Join Group Projects at FamilyTreeDNA FamilyTreeDNA link to learning center article) https://www.familysearch.org/rootstech/session/join-group-projects-at-familytreedna link

 

71 Product Demo – Unraveling your genealogy with reconstructed trees using AutoKinship GEDmatch https://www.youtube.com/watch?v=R7_W0FM5U7c 803
72 Towards a Genetic Genealogy Driven Irish Reference Genome Gerard Corcoran https://www.youtube.com/watch?v=6Kx8qeNiVmo 155

 

73 Discovering Biological Origins in Chile With DNA: Simple Triangulation Gonzalo Alexis Luengo Orellana https://www.youtube.com/watch?v=WcVby54Uigc 40
74 Cousin Lynne: An Adoption Story International Association of Jewish Genealogical Societies https://www.youtube.com/watch?v=AptMcV4_B4o 111
75 Using DNA Testing to Uncover Native Ancestry Janine Cloud https://www.youtube.com/watch?v=edzebJXepMA 205
76 1. Forensic Genetic Genealogy Jarrett Ross https://www.youtube.com/watch?v=0euIDZTmx5g 58
77 Reunited and it Feels so Good Jennifer Mendelsohn https://www.youtube.com/watch?v=X-hxjm7grBE 57

 

78 Genealogical Research and DNA Testing: The Perfect Companions Kimberly Brown https://www.youtube.com/watch?v=X82jA3xUVXk 80
79 Finding a Jewish Sperm Donor Kitty Munson Cooper https://www.youtube.com/watch?v=iKRjFfNcpug 164
80 Using DNA in South African Genealogy Linda Farrell https://www.youtube.com/watch?v=HXkbBWmORM0 141
81 Using DNA Group Projects In Your Family History Research Mags Gaulden https://www.youtube.com/watch?v=0tX7QDib4Cw 165
82 2. The Expansion of Genealogy Into Forensics Marybeth Sciaretta https://www.youtube.com/watch?v=HcEO-rMe3Xo 35

 

83 DNA Interest Groups That Keep ’em Coming Back McKell Keeney (live) https://www.youtube.com/watch?v=HFwpmtA_QbE 180 plus live viewers
84 Searching for Close Relatives with Your DNA Results Mckell Keeney (live) https://www.familysearch.org/rootstech/session/searching-for-close-relatives-with-your-dna-results Not yet available
85 Top Ten Reasons To DNA Test For Family History Michelle Leonard https://www.youtube.com/watch?v=1B9hEeu_dic 181
86 Top Tips For Identifying DNA Matches Michelle Leonard https://www.youtube.com/watch?v=-3Oay_btNAI 306
87 Maximising Messages Michelle Patient https://www.youtube.com/watch?v=4TRmn0qzHik 442
88 How to Filter and Sort Your DNA Matches MyHeritage https://www.youtube.com/watch?v=fmIgamFDvc8 88
89 How to Get Started with Your DNA Matches MyHeritage https://www.youtube.com/watch?v=JPOzhTxhU0E 447

 

90 How to Track DNA Kits in MyHeritage` MyHeritage https://www.youtube.com/watch?v=2W0zBbkBJ5w 28

 

91 How to Upload Your DNA Data to MyHeritage MyHeritage https://www.youtube.com/watch?v=nJ4RoZOQafY 82
92 How to Use Genetic Groups MyHeritage https://www.youtube.com/watch?v=PtDAUHN-3-4 62
My Story: Hope MyHeritage https://www.youtube.com/watch?v=qjyggKZEXYA 133
93 MyHeritage Keynote, RootsTech 2022 MyHeritage https://www.familysearch.org/rootstech/session/myheritage-keynote-rootstech-2022 Not available
94 Using Labels to Name Your DNA Match List MyHeritage https://www.youtube.com/watch?v=enJjdw1xlsk 139

 

95 An Introduction to DNA on MyHeritage MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=1I6LHezMkgc 60
96 Using MyHeritage’s Advanced DNA Tools to Shed Light on Your DNA Matches MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=Pez46Xw20b4 110
97 You’ve Got DNA Matches! Now What? MyHeritage – Daniel Horowitz https://www.youtube.com/watch?v=gl3UVksA-2E 260
98 My Story: Lizzie and Ayla MyHeritage – Elizbeth Shaltz https://www.youtube.com/watch?v=NQv6C8G39Kw 147
99 My Story: Fernando and Iwen MyHeritage – Fernando Hermansson https://www.youtube.com/watch?v=98-AR0M7fFE 165

 

100 Using the Autocluster and the Chromosome Browser to Explore Your DNA Matches MyHeritage – Gal Zruhen https://www.youtube.com/watch?v=a7aQbfP7lWU 115

 

101 My Story : Kara Ashby Utah Wedding MyHeritage – Kara Ashby https://www.youtube.com/watch?v=Qbr_gg1sDRo 200
102 When Harry Met Dotty – using DNA to break down brick walls Nick David Barratt https://www.youtube.com/watch?v=8SdnLuwWpJs 679
103 How to Add a DNA Match to Airtable Nicole Dyer https://www.youtube.com/watch?v=oKxizWIOKC0 161
104 How to Download DNA Match Lists with DNAGedcom Client Nicole Dyer https://www.youtube.com/watch?v=t9zTWnwl98E 124
105 How to Know if a Matching DNA Segment is Maternal or Paternal Nicole Dyer https://www.youtube.com/watch?v=-zd5iat7pmg 161
106 DNA Basics Part I Centimorgans and Family Relationships Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=SI1yUdnSpHA 372
107 DNA Basics Part II Clustering and Connecting Your DNA Matches Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=ECs4a1hwGcs 333
108 DNA Basics Part III Charting Your DNA Matches to Get Answers Origins International, Inc. dba Origins Genealogy https://www.youtube.com/watch?v=qzybjN0JBGY 270
109 2. Using Cluster Auto Painter Patricia Coleman https://www.youtube.com/watch?v=-nfLixwxKN4 691
110 3. Using Online Irish Records Patricia Coleman https://www.youtube.com/watch?v=mZsB0l4z4os 802
111 Exploring Different Types of Clusters Patricia Coleman https://www.youtube.com/watch?v=eEZBFPC8aL4 972

 

112 The Million Mito Project: Growing the Family Tree of Womankind Paul Maier https://www.youtube.com/watch?v=cpctoeKb0Kw 541
113 The Tree of Mankind Age Estimates Paul Maier https://www.youtube.com/watch?v=jjkL8PWAEwk 1638
114 Y-DNA and Mitochondrial DNA Testing Plans Paul Woodbury https://www.youtube.com/watch?v=akymSm0QKaY 168
115 Finding Biological Family Price Genealogy https://www.youtube.com/watch?v=4xh-r3hZ6Hw 137
116 What Y-DNA Testing Can Do for You Richard Hill https://www.youtube.com/watch?v=a094YhIY4HU 191
117 Extending Time Horizons with DNA Rob Spencer (live) https://www.youtube.com/watch?v=wppXD1Zz2sQ 1037 + live viewers
118 DNA for Native American Ancestry by Roberta Estes Roberta Estes https://www.youtube.com/watch?v=EbNyXCFfp4M 212
119 1. Associating Autosomal DNA Segments With Ancestors Roberta Estes (live) https://www.youtube.com/watch?v=_IHSCkNnX48

 

~9000: 1019 + 500 live viewers + 7,400+ Facebook
120 1. What Can I Do With Ancestral DNA Segments? Roberta Estes (live) https://www.youtube.com/watch?v=Suv3l4iZYAQ 325 plus live viewers

 

121 Native American DNA – Ancient and Contemporary Maps Roberta Estes (live) https://www.youtube.com/watch?v=dFTl2vXUz_0 212 plus 483 live viewers

 

122 How Can DNA Enhance My Family History Research? Robin Wirthlin https://www.youtube.com/watch?v=f3KKW-U2P6w 102
123 How to Analyze a DNA Match Robin Wirthlin https://www.youtube.com/watch?v=LTL8NbpROwM 367
124 1. Jewish Ethnicity & DNA: History, Migration, Genetics Schelly Talalay Dardashti https://www.youtube.com/watch?v=AIJyphGEZTA 82

 

125 2. Jewish Ethnicity & DNA: History, Migration, Genetics Schelly Talalay Dardashti https://www.youtube.com/watch?v=VM3MCYM0hkI 72
126 Ask us about DNA Talking Family History (live) https://www.youtube.com/watch?v=kv_RfR6OPpU 96 plus live viewers
127 1. An Introduction to Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=WNhErW5UVKU

 

183
128 2. An Introduction to Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=CRpQ8EVOShI 110

 

129 Common Problems When Doing Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=hzFxtBS5a8Y 68
130 Cross Visual Phasing to Go Back Another Generation Tanner Blair Tolman https://www.youtube.com/watch?v=MrrMqhfiwbs 64
131 DNA Basics Tanner Blair Tolman https://www.youtube.com/watch?v=OCMUz-kXNZc 155
132 DNA Painter and Visual Phasing Tanner Blair Tolman https://www.youtube.com/watch?v=2-eh1L4wOmQ 155
133 DNA Painter Part 2: Chromosome Mapping Tanner Blair Tolman https://www.youtube.com/watch?v=zgOJDRG7hJc 172
134 DNA Painter Part 3: The Inferred Segment Generator Tanner Blair Tolman https://www.youtube.com/watch?v=96ai8nM4lzo

 

100
135 DNA Painter Part 4: The Distinct Segment Generator Tanner Blair Tolman https://www.youtube.com/watch?v=Pu-WIEQ_8vc 83
136 DNA Painter Part 5: Ancestral Trees Tanner Blair Tolman https://www.youtube.com/watch?v=dkYDeFLduKA 73
137 Understanding Your DNA Ethnicity Results Tanner Blair Tolman https://www.youtube.com/watch?v=4tAd8jK6Bgw 518
138 What’s New at GEDmatch Tim Janzen https://www.youtube.com/watch?v=AjA59BG_cF4

 

515
139 What Does it Mean to Have Neanderthal Ancestry? Ugo Perego https://www.youtube.com/watch?v=DshCKDW07so 190
140 Big Y-700 Your DNA Guide https://www.youtube.com/watch?v=rIFC69qswiA 143
141 Next Steps with Your DNA Your DNA Guide – Diahan Southard (live) https://www.familysearch.org/rootstech/session/next-steps-with-your-dna Not yet available

Additions:

142  Adventures of an Amateur Genetic Genealogist – Geoff Nelson https://www.familysearch.org/rootstech/session/adventures-of-an-amateur-genetic-genealogist     291 views

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DNA Day: Forty Years On and We’re Still Shaking The Tree!

Genealogists are always excited when DNA Day in April arrives because it means two things:

  • Celebrating DNA
  • Sales

This year we have a 40th anniversary to celebrate along with some great sales.

Those of you who know me already understand how excited I am about the powerful combination of genetics and genealogy. Yes, I’m a science/genealogy nerd and I’m also one of the scientists working on the Million Mito Project – the next generation of mitochondrial DNA.

We’re pushing that envelope and you’ll be the beneficiary.

So please forgive me if my excitement spills over for a bit here. Let’s celebrate together!

The Beginning – Mitochondrial DNA

Mitochondrial graphic courtesy Dr. Paul Maier Copyright 2021 all rights reserved

Mitochondrial DNA, the DNA all humans inherit from their mother in a direct matrilineal line was first sequenced in 1981 at Cambridge University using the DNA of an anonymous volunteer. We know today that the volunteer whose DNA was used for that reference sample carried mutation values that eventually placed them in haplogroup H2a2a1. Of course, haplogroup H2a2a1 didn’t exist back then and has slowly evolved over the years as we learn more and updates to the tree occur.

That volunteer’s sequence of mutations was organized to form basic haplogroups, a genetic breadcrumb history that provides links both backward in time to our distant ancestors and forwards in time to us today. Comparing our mitochondrial DNA to other testers is genealogically relevant and can help break through brick walls. But that next chapter, genealogy, wouldn’t begin until the year 2000 when both Oxford Ancestors and FamilyTreeDNA introduced direct-to-consumer testing.

For 31 years after that initial discovery, everyone would be compared to the Cambridge Reference Sequence, the CRS.

Scientists didn’t know at the time, of course, but using the DNA of a person whose haplogroup was formed about 3500 years ago would make it challenging to correctly place people whose haplogroup was formed sometime between Mitochondrial Eve, our founding mother, and the haplogroup H reference sequence.

Think of it as trying to measure someone’s height when measuring from their shoulders up. You can do it, but you need to compensate for not measuring from the floor to the top of their head in one step.

Mitochondrial Eve lived about 150,000 years ago in Africa and was the founder of haplogroup L who eventually gave birth to all of the rest of the haplogroups in the world through haplogroups M and N who migrated out of Africa.

Courtesy FamilyTreeDNA

In 2012, a second comparison methodology, the Reconstructed Sapiens Reference Sequence (RSRS) was published in the landmark paper, A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root, written by Behar et al.

The RSRS version of the tree defined branches beginning at the base with Mitochondrial Eve, the first woman who lived in African and has survivors today, and provided estimated dates of when individual haplogroups were formed in a supplement to the paper. In other words, the RSRS measured height, or the genetic distance from Eve to us, from the floor up.

Today, there is still no universally accepted standardization in reporting, in part because the earlier papers are still relevant and utilize the older CRS methodology. Different academic papers reference the CRS or the RSRS, and FamilyTreeDNA, the only company that tests the full sequence and provides matching for genealogy, reports both versions for customers.

click to enlarge graphics

I find the RSRS more relevant for genealogy, because it’s much easier to see and identify our extra and missing mutations which are the seeds of future haplogroups.

While the original scientific mitochondrial DNA paper from 1981 is behind a paywall, here, I found another article, Mitochondrial DNA published in the magazine, The Science Teacher, that’s free, here.

With Build 17 of the mitochondrial tree, published in 2016, more than 5,400 haplogroups were defined using 24,275 samples. You can view the defining mutations by haplogroup, here, or on Phylotree, here.

Many more samples are available now, and the tree is in desperate need of an update, but that update needs to be a scientific reevaluation, not just adding to the tips of the branches.

In February of 2020, the Million Mito Project was launched which will use more than a quarter-million samples, with a goal of a million, to rewrite the Tree of Womankind. Samples are included from:

  • FamilyTreeDNA
  • Genographic Project participants who opted in to scientific research
  • Academic samples

You can watch a short video about the Million Mito Project produced by yours truly, here. I’ll have more information on this topic, soon.

I put together a Mitochondrial DNA resource page, here, with everything you’ve ever wanted to know and then some😊

Individuals can particulate in the Million Mito Project (MMP) by taking the mitochondrial DNA test at FamilyTreeDNA. Academic institutions can participate by uploading research samples to GenBank and contacting a member of the research team.

1981 Was Just the First Baby Step

Of course, the sequencing of mitochondrial DNA 40 years ago was just the beginning of our genetic journey. The first 20 years was spent building the foundation for consumer testing. This second 20 years has been the express-train ride of a lifetime.

Today, we’re shaking that tree harder than ever! Man alive, has it ever produced too – ancestors, surprises, confirmation of paper trails, new cousins and so much more. We’ve learned, and are continuing to learn about the genetic journey of our ancestors that was entirely unavailable to us before genealogists embraced DNA testing.

Every year we celebrate DNA Day by testing our DNA and by reviewing our matches to see what they reveal about our own personal journey and those of our ancestors. New matches arrive all the time. The key is to:

  • Take each kind of DNA test.
  • Test relatives. Their matches are critical to our shared ancestral genealogy.
  • Find relatives to represent Y and mitochondrial DNA of ancestors whose Y and mitochondrial DNA we don’t’ carry.
  • Check back often to see what new matches have appeared, and what hints and secrets they might hold. If the key to that brick wall has arrived, and you don’t check, you’ll never know!

Take that test! Upgrade if that’s an option for either Y or mitochondrial DNA for yourself, and test your autosomal DNA or transfer to all of the four major companies. Fish in all the ponds. You don’t know where that fish you need is living.

Step-by-step upload-download instructions are here for every vendor.

Don’t forget about testing your relatives that share all of the same ancestors that you do – aunts, uncles, grandparents. They will have matches that you don’t.

DNA Day Sales

Not all vendors are offering DNA Day sales, at least not yet, but FamilyTreeDNA and MyHeritage have great sale prices, shown below.

FamilyTreeDNA

Of course, FamilyTreeDNA sells three types of DNA tests for genealogy, Y DNA (direct paternal surname line for males only, mitochondrial DNA (direct matrilineal line for both sexes), and the Family Finder autosomal test (all lines for everyone), so they have more products to discount.

Please note that the autosomal transfer advanced tool unlock is only $9 right now. The unlock provides access to your myOrigins results (ethnicity) and AncientOrigins along with the chromosome browser if you uploaded your DNA from another vendor. The unlock seldom goes on sale and $9 is a great price. How many tests have you transferred and not yet unlocked?

If you’ve taken an earlier Y or mitochondrial DNA test at a lower level, you can upgrade – and upgrades are on sale too.

Have you been waiting to order that Big Y upgrade? Now’s the time!

You can click right here to order, upgrade or unlock a transfer.

MyHeritage

MyHeritage’s autosomal DNA test is on sale until the 25th for $59 with free shipping if you purchase 2 or more tests.

MyHeritage recently added another new feature for their DNA customers – Shared Ethnicities and Genetic Groups.

When you click to compare your information with a match, you can scroll down to see common ethnicities and Genetic Groups that you share with that person.

You can see that I share a small amount of indigenous American DNA with this person.

Is this important? I don’t know. It might be and it’s up to me as a genealogist to run with this ball and see what I can uncover.

Shared Genetic Groups may make finding common origins with your DNA matches even easier. The person with whom I share that indigenous ancestry also has ancestors from Appalachia. Hmmm, now I need to see who else I match in common with this person. I’m pretty sure, just based on this, that they match on my father’s side.

You can click here to check out your common ethnicities or genetic groups at My Heritage, or to order tests for family members whose results will help you unravel your matches.

Don’t forget, if you’ve already tested elsewhere, you can click here to easily upload to MyHeritage for free matching and just pay the $29 unlock for their advanced tools including the chromosome browser, ethnicities, Genetic Groups, clustering and triangulation.

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

Haplogroup Comparisons Between Family Tree DNA and 23andMe

Recently, I’ve received a number of questions about comparing people and haplogroups between 23andMe and Family Tree DNA.  I can tell by the questions that a significant amount of confusion exists about the two, so I’d like to talk about both.  In you need a review of “What is a Haplogroup?”, click here.

Haplogroup information and comparisons between Family Tree DNA information and that at 23andMe is not apples and apples.  In essence, the haplogroups are not calculated in the same way, and the data at Family Tree DNA is much more extensive.  Understanding the differences is key to comparing and understanding results. Unfortunately, I think a lot of misinterpretation is happening due to misunderstanding of the essential elements of what each company offers, and what it means.

There are two basic kinds of tests to establish haplogroups, and a third way to estimate.

Let’s talk about mitochondrial DNA first.

Mitochondrial DNA

You have a very large jar of jellybeans.  This jar is your mitochondrial DNA.

jellybeans

In your jar, there are 16,569 mitochondrial DNA locations, or jellybeans, more or less.  Sometimes the jelly bean counter slips up and adds an extra jellybean when filling the jar, called an insertion, and sometimes they omit one, called a deletion.

Your jellybeans come in 4 colors/flavors, coincidentally, the same colors as the 4 DNA nucleotides that make up our double helix segments.  T for tangerine, A for apricot, C for chocolate and G for grape.

Each of the 16,569 jellybeans has its own location in the jar.  So, in the position of address 1, an apricot jellybean is always found there.  If the jellybean jar filler makes a mistake, and puts a grape jellybean there instead, that is called a mutation.  Mistakes do happen – and so do mutations.  In fact, we count on them.  Without mutations, genetic genealogy would be impossible because we would all be exactly the same.

When you purchase a mitochondrial DNA test from Family Tree DNA, you have in the past been able to purchase one of three mitochondrial testing levels.  Today, on the website, I see only the full sequence test for $199, which is a great value.

However, regardless of whether you purchase the full mitochondrial sequence test today, which tests all of your 16,569 locations, or the earlier HVR1 or HVR1+HVR2 tests, which tested a subset of about 10% of those locations called the HyperVariable Region, Family Tree DNA looks at each individual location and sees what kind of a jellybean is lodged there.  In position 1, if they find the normal apricot jellybean, they move on to position 2.  If they find any other kind of jellybean in position 1, other than apricot, which is supposed to be there, they record it as a mutation and record whether the mutation is a T,C or G.  So, Family Tree DNA reads every one of your mitochondrial DNA addresses individually.

Because they do read them individually, they can also discover insertions, where extra DNA is inserted, deletions, where some DNA dropped out of line, and an unusual conditions called a heteroplasmy which is a mutation in process where you carry some of two kinds of jellybean in that location – kind of a half and half 2 flavor jellybean.  We’ll talk about heteroplasmic mutations another time.

So, at Family Tree DNA, the results you see are actually what you carry at each of your individual 16,569 mitochondrial addresses.  Your results, an example shown below, are the mutations that were found.  “Normal” is not shown.  The letter following the location number, 16069T, for example, is the mutation found in that location.  In this case, normal is C.  In the RSRS model of showing mitochondrial DNA mutations, this location/mutation combination would be written as C16069T so that you can immediately see what is normal and then the mutated state.  You can click on the images to enlarge.

ftdna mito results

Family Tree DNA gives you the option to see your results either in the traditional CRS (Cambridge Reference Sequence) model, above, or the more current Reconstructed Sapiens Reference Sequence (RSRS) model.  I am showing the CRS version because that is the version utilized by 23andMe and I want to compare apples and apples.  You can read about the difference between the two versions here.

Defining Haplogroups

Haplogroups are defined by specific mutations at certain addresses.

For example, the following mutations, cumulatively, define haplogroup J1c2f.  Each branch is defined by its own mutation(s).

Haplogroup Required Mutations  
J C295T, T489C, A10398G!,   A12612G, G13708A, C16069T
J1 C462T, G3010A
J1c G185A, G228A,   T14798C
J1c2 A188G
J1c2f G9055A

You can see, below, that these results, shown above, do carry these mutations, which is how this individual was assigned to haplogroup J1c2f. You can read about how haplogroups are defined here.

ftdna J1c2f mutations

At 23andMe, they use chip based technology that scans only specifically programmed locations for specific values.  So, they would look at only the locations that would be haplogroup producing, and only those locations.  Better yet if there is one location that is utilized in haplogroup J1c2f that is predictive of ONLY J1c2f, they would select and use that location.

This same individual at 23andMe is classified as haplogroup J1c2, not J1c2f.  This could be a function of two things.  First, the probes might not cover that final location, 9055, and second, 23andMe may not be utilizing the same version of the mitochondrial haplotree as Family Tree DNA.

By clicking on the 23andMe option for “Ancestry Tools,” then “Haplogroup Tree Mutation Mapper,” you can see which mutations were tested with the probes to determine a haplogroup assignment.  23andMe information for this haplogroup is shown below.  This is not personal information, meaning it is not specific to you, except that you know you have mutations at these locations based on the fact that they have assigned you to the specific haplogroup defined by these mutations.  What 23andMe is showing in their chart is the ancestral value, which is the value you DON’T have.  So your jelly bean is not chocolate at location 295, it’s tangerine, apricot or grape.

Notice that 23andMe does not test for J1c2f.  In addition, 23andMe cannot pick up on insertions, deletions or heteroplasmies.  Normally, since they aren’t reading each one of your locations and providing you with that report, missing insertions and deletions doesn’t affect anything, BUT, if a deletion or insertion is haplogroup defining, they will miss this call.  Haplogroup K comes to mind.

J defining mutations

J1 defining mutations

J1c defining mutations

23andMe never looks at any locations in the jelly bean jar other than the ones to assign a haplogroup, in this case,17 locations.  Family Tree DNA reads every jelly bean in the jelly bean jar, all 16,569.  Different technology, different results.  You also receive your haplogroup at 23andMe as part of a $99 package, but of course the individual reading of your mitochondrial DNA at Family Tree DNA is more accurate.  Which is best for you depends on your personal testing goals, so long as you accurately understand the differences and therefore how to interpret results.  A haplogroup match does not mean you’re a genealogy match.  More than one person has told me that they are haplogroup J1c, for example, at Family Tree DNA and they match someone at 23andMe on the same haplogroup, so they KNOW they have a common ancestor in the past few generations.  That’s an incorrect interpretation.  Let’s take a look at why.

Matches Between the Two

23andMe provides the tester with a list of the people who match them at the haplogroup level.  Most people don’t actually find this information, because it is buried on the “My Results,” then “Maternal Line” page, then scrolling down until your haplogroup is displayed on the right hand side with a box around it.

Those who do find this are confused because they interpret this to mean they are a match, as in a genealogical match, like at Family Tree DNA, or like when you match someone at either company autosomally.  This is NOT the case.

For example, other than known family members, this individual matches two other people classified as haplogroup J1c2.  How close of a match is this really?  How long ago do they share a common ancestor?

Taking a look at Doron Behar’s paper, “A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root,” in the supplemental material we find that haplogroup J1c2 was born about 9762 years ago with a variance of plus or minus about 2010 years, so sometime between 7,752 and 11,772 years ago.  This means that these people are related sometime in the past, roughly, 10,000 years – maybe as little as 7000 years ago.  This is absolutely NOT the same as matching your individual 16,569 markers at Family Tree DNA.  Haplogroup matching only means you share a common ancestor many thousands of years ago.

For people who match each other on their individual mitochondrial DNA location markers, their haplotype, Family Tree DNA provides the following information in their FAQ:

    • Matching on HVR1 means that you have a 50% chance of sharing a common maternal ancestor within the last fifty-two generations. That is about 1,300 years.
    • Matching on HVR1 and HVR2 means that you have a 50% chance of sharing a common maternal ancestor within the last twenty-eight generations. That is about 700 years.
    • Matching exactly on the Mitochondrial DNA Full Sequence test brings your matches into more recent times. It means that you have a 50% chance of sharing a common maternal ancestor within the last 5 generations. That is about 125 years.

I actually think these numbers are a bit generous, especially on the full sequence.  We all know that obtaining mitochondrial DNA matches that we can trace are more difficult than with the Y chromosome matches.  Of course, the surname changing in mitochondrial lines every generation doesn’t help one bit and often causes us to “lose” maternal lines before we “lose” paternal lines.

Autosomal and Haplogroups, Together

As long as we’re mythbusting here – I want to make one other point.  I have heard people say, more than once, that an autosomal match isn’t valid “because the haplogroups don’t match.”  Of course, this tells me immediately that someone doesn’t understand either autosomal matching, which covers all of your ancestral lines, or haplogroups, which cover ONLY either your matrilineal, meaning mitochondrial, or patrilineal, meaning Y DNA, line.  Now, if you match autosomally AND share a common haplogroup as well, at 23andMe, that might be a hint of where to look for a common ancestor.  But it’s only a hint.

At Family Tree DNA, it’s more than a hint.  You can tell for sure by selecting the “Advanced Matching” option under Y-DNA, mtDNA or Family Finder and selecting the options for both Family Finder (autosomal) and the other type of DNA you are inquiring about.  The results of this query tell you if your markers for both of these tests (or whatever tests are selected) match with any individuals on your match list.

Advanced match options

Hint – for mitochondrial DNA, I never select “full sequence” or “all mtDNA” because I don’t want to miss someone who has only tested at the HVR1 level and also matches me autosomally.  I tend to try several combinations to make sure I cover every possibility, especially given that you may match someone at the full sequence level, which allows for mutations, that you don’t match at the HVR1 level.  Same situation for Y DNA as well.  Also note that you need to answer “yes” to “Show only people I match on all selected tests.”

Y-DNA at 23andMe

Y-DNA works pretty much the same at 23andMe as mitochondrial meaning they probe certain haplogroup-defining locations.  They do utilize a different Y tree than Family Tree DNA, so the haplogroup names may be somewhat different, but will still be in the same base haplogroup.  Like mitochondrial DNA, by utilizing the haplogroup mapper, you can see which probes are utilized to determine the haplogroup.  The normal SNP name is given directly after the rs number.  The rs number is the address of the DNA on the chromosome.  Y mutations are a bit different than the display for mitochondrial DNA.  While mitochondrial DNA at 23andMe shows you only the normal value, for Y DNA, they show you both the normal, or ancestral, value and the derived, or current, value as well.  So at SNP P44, grape is normal and you have apricot if you’ve been assigned to haplogroup C3.

C3 defining mutations

As we are all aware, many new haplogroups have been defined in the past several months, and continue to be discovered via the results of the Big Y and Full Y test results which are being returned on a daily basis.  Because 23andMe does not have the ability to change their probes without burning an entirely new chip, updates will not happen often.  In fact, their new V4 chip just introduced in December actually reduced the number of probes from 967,000 to 602,000, although CeCe Moore reported that the number of mtDNA and Y probes increased.

By way of comparison, the ISOGG tree is shown below.  Very recently C3 was renamed to C2, which isn’t really the point here.  You can see just how many haplogroups really exist below C3/C2 defined by SNP M217.  And if you think this is a lot, you should see haplogroup R – it goes on for days and days!

ISOGG C3-C2 cropped

How long ago do you share a common ancestor with that other person at 23andMe who is also assigned to haplogroup C3?  Well, we don’t have a handy dandy reference chart for Y DNA like we do for mitochondrial – partly because it’s a constantly moving target, but haplogroup C3 is about 12,000 years old, plus or minus about 5,000 years, and is found on both sides of the Bering Strait.  It is found in indigenous Native American populations along with Siberians and in some frequency, throughout all of Asia and in low frequencies, into Europe.

How do you find out more about your haplogroup, or if you really do match that other person who is C3?  Test at Family Tree DNA.  23andMe is not in the business of testing individual markers.  Their business focus is autosomal DNA and it’s various applications, medical and genealogical, and that’s it.

Y-DNA at Family Tree DNA

At Family Tree DNA, you can test STR markers at 12, 25, 37, 67 and 111 marker levels.  Most people, today, begin with either 37 or 67 markers.

Of course, you receive your results in several ways at Family Tree DNA, Haplogroup Origins, Ancestral Origins, Matches Maps and Migration Maps, but what most people are most interested in are the individual matches to other people.  These STR markers are great for genealogical matching.  You can read about the difference between STR and SNP markers here.

When you take the Y test, Family Tree DNA also provides you with an estimated haplogroup.  That estimate has proven to be very accurate over the years.  They only estimate your haplogroup if you have a proven match to someone who has been SNP tested. Of course it’s not a deep haplogroup – in haplogroup R1b it will be something like R1b1a2.  So, while it’s not deep, it’s free and it’s accurate.  If they can’t predict your haplogroup using that criteria, they will test you for free.  It’s called their SNP assurance program and it has been in place for many years.  This is normally only necessary for unusual DNA, but, as a project administrator, I still see backbone tests being performed from time to time.

If you want to purchase SNP tests, in various formats, you can confirm your haplogroup and order deeper testing.

You can order individual SNP markers for about $39 each and do selective testing.  On the screen below you can see the SNPs available to purchase for haplogroup C3 a la carte.

FTDNA C3 SNPs

You can order the Geno 2.0 test for $199 and obtain a large number of SNPs tested, over 12,000, for the all-inclusive price.  New SNPs discovered since the release of their chip in July of 2012 won’t be included either, but you can then order those a la carte if you wish.

Or you can go all out and order the new Big Y for $695 where all of your Y jellybeans, all 13.5 million of them in your Y DNA jar are individually looked at and evaluated.  People who choose this new test are compared against a data base of more than 36,000 known SNPs and each person receives a list of “novel variants” which means individual SNPs never before discovered and not documented in the SNP data base of 36,000.

Don’t know which path to take?  I would suggest that you talk to the haplogroup project administrator for the haplogroup you fall into.  Need to know how to determine which project to join, and how to join? Click here.  Haplogroup project administrators are generally very knowledgeable and helpful.  Many of them are spearheading research into their haplogroup of interest and their knowledge of that haplogroup exceeds that of anyone else.  Of course you can also contact Family Tree DNA and ask for assistance, you can purchase a Quick Consult from me, and you can read this article about comparing your options.

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I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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2012 Top 10 Genetic Genealogy Happenings

2012 has been a very busy year for genetic genealogists.  There have been lots of discoveries and announcements that affect everyone, now and in the future.  The watchwords for 2012 would be “churn” and “explosive growth.”  Let’s take a look at the 10 most important events, why they are important and what they mean for the future of genetic genealogy.

These items are in what I think are relatively good order, ranked by their importance, although I had a very difficult time deciding between number 1 and 2.

1. The New Root – Haplogroup A00

At the Family Tree DNA conference in November, Michael Hammer, Bonnie Schrack and Thomas Krahn announced that they had made a monumental discovery in the age of modern man known as Y-line Adam.  The discovery of Haplogroup A00 pushes the “birth” of mankind back from about 140,000 years ago to an amazing 338,000 years ago.  Utterly amazing.  The DNA came from an American family from South Carolina.  This discovery highlights the importance of citizen science.  Bonnie is a haplogroup administrator who recognized the potential importance of one of her participants’ DNA.  Thomas Krahn of course is with Family Tree DNA and ran the WTY test, and Michael Hammer is at the University of Arizona.  So you have the perfect blend here of participant, citizen scientist, commercial lab and academia.  What was never thought possible a decade or so ago is not only working, it’s working well and changing the face of both science and humanity.

http://dna-explained.com/2012/11/16/the-new-root-haplogroup-a00/

http://www.haplogroup-a.com./

2. Geno 2.0

Geno 2.0 is the Nickname for the National Geographic Society’s Genographic Project version 2.0.  That mouthful is why it has a nickname.

This amazing project has leveraged the results of the past 7 years of research from the original Genographic project into a new groundbreaking product.  Geno 2.0, utilizing the GenoChip, a sequencing chip created specifically for Nat Geo, offers the most complete Y tree in the world today, expanding the SNP tree from just over 800 SNPs to over 12,000.  They are in essence redrawing the Y chromosome tree as I write this.  In addition, the person who purchases Geno 2.0 will receive a mitochondrial DNA haplogroup assignment.  Over 3300 new mitochondrial mutations were discovered. A brand new anthropological “percentages of ethnicity” report is featured based on over 75,000 Ancestry Informative Markers, many only recently discovered by the Genographic project.  Additionally, participants will receive their percentage of both Neanderthal and Denisovan ancestry based on 30,000 SNPs identified that signal interbreeding between the hominids.  A new website will also facilitate social networking and uploading information to Family Tree DNA.

The wonderful news is that there is a massive amount of new information here that will change the landscape of genetic genealogy.  The difficulty is that we are struggling a bit under the load of that massive amount of information that is just beginning to descend upon us.  It’s a great problem to have!

http://dna-explained.com/2012/07/25/national-geographic-geno-2-0-announcement-the-human-story/

http://dna-explained.com/2012/07/26/geno-2-0-qa-with-bennett-greenspan/

http://dna-explained.com/2012/07/30/geno-2-0-answers-from-spencer-wells/

http://dna-explained.com/2012/07/31/geno-2-0-wty-mtdna-full-sequence-participants-and-more/

http://dna-explained.com/2012/10/14/what-to-order-geno-2-0-vs-family-tree-dna-products/

http://dna-explained.com/2012/10/16/geno-2-0-the-kit-arrives/

http://dna-explained.com/2012/12/11/geno-2-0-results-first-peek/

http://dna-explained.com/2012/12/12/geno-2-0-results-kicking-the-tires/

3. Reconstructed Sapiens Reference Sequence (RSRS)

In July, Family Tree DNA implemented the RSRS that in effect reconstructs the genetic profile of Mitochondrial Eve and bases the comparison of our DNA today against the RSRS sequence as opposed to the Cambridge Reference Sequence (rCRS) created in 1981 that is or was the current standard.  The RSRS is a result of the watershed paper published in April 2012 by Dr. Doron Behar and 8 other authors titled “A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root.”  A complementary research website, www.mtdnacommunity.org, accompanies the paper.

http://dna-explained.com/2012/07/14/what-happened-to-my-mitochondrial-dna/

http://dna-explained.com/2012/07/15/the-crs-and-the-rsrs/

http://dna-explained.com/2012/07/16/the-mtdna-community/

http://dna-explained.com/2012/12/02/little-a-big-a-mitochondrial-dna/

4. Full Genome and Exome Sequence Offered Commercially by Gene by Gene

It was announced at the November DNA conference that Gene by Gene, the parent company of Family Tree DNA, through their division titled DNA DTC is offering full genomic sequencing for the amazing price of $5495 for the full genome and $695 for the exome.  This is a first in the consumer marketspace.  Today, this doesn’t have a lot of application for genetic genealogy, but as the price continues to drop, and utilities are built to process the full genomic data, certainly a market and applications will emerge.  This is an important step forward in the industry with a product that still cost 3 million dollars in 2007.

http://dna-explained.com/2012/11/30/gene-by-gene-announces-landmark-dna-dtc-full-genome-sequence/

5. Neanderthal and Denisovan DNA

It’s official – they did it.  Yep, they interbred and well, they are not them anymore, they are us.  Given that everyone in Asia and Europe carries a part of them, but not people from Africa, it would appear that two populations admixed rather thoroughly in Eurasia and/or the populations were small.  The amount of Neanderthal and Denisovan DNA will continue at approximately the proportions seen today in Europe (2% Neanderthal) and Asia unless a significant amount of admixture from a population (Africa) that does not carry this admixture is introduced.  So if you’re European, you carry both Neanderthal and Denisovan DNA.  They are your ancestors.  The good news is that you can find how much of each through  the Geno 2.0 test.  23andMe results give you the percentage of Neanderthal, but not Denisovan.

http://dna-explained.com/2012/08/31/denisovan-dna-tells-a-story/

http://dna-explained.com/2012/12/12/geno-2-0-results-kicking-the-tires/

6. Ancestral Genome Reconstruction Begins,  Led by Falling Autosomal Prices and the Ability to Fish in Multiple Ponds

2012 has been the year of autosomal testing price reductions and a great deal of churn in this marketspace.  Companies are playing leap-frog with one another.  However, sometimes things are not all that they seem.

Initially, 23andMe opted for an initial payment plus monthly subscription model, which they abandoned for a one time payment price of $299 in early 2012.  Family Tree DNA was slightly less, at $289.

Ancestry led the price war by giving away kits, then selling them for $99, then $129 plus a subscription as an entrance into this market.  However, looking at the Ancestry consent form hints at possible reasons why they were selling below the cost of the tests.  You are in essence giving them permission to sell your DNA and associated information.  In addition, to gain full access to your results and matches, you must maintain some level of subscription to Ancestry.com, increasing the total effective price.

Next came Family Tree DNA’s sale where they dropped their autosomal price to $199, but they were shortly upstaged by 23andMe whose price has now dropped to $99 permanently, apparently, a result of a 50 million dollar investment in order to reach 1 million customers.  They currently have about 180,000.  23andMe has always been in the medical/health business, so their clients have always understood what they were consenting to and for.

Not to be outdone, Family Tree DNA introduced the ability earlier in 2012 to upload your data files from 23andMe to FamilyTree DNA for $89, far less than a second test, which allows you to fish in a second pond where genealogists live for matches.  The challenge at 23andMe is that most of their clients test for the health traits and either don’t answer inquiries or match requests, or know little about their genealogy if they do.  At Family Tree DNA, matches don’t have to answer and allow a match, testers are automatically matched with all participants who take the Family Finder test (or upload their 23andMe results) and testers are provided with their matches’ e-mail address.

Of course, Geno 2.0 was also introduced in the midst of this, in July, for $199 with the additional lollipop of new SNPS, lots of them, that others simply don’t have access to yet.

The good news is that consumers have benefitted from this leapfrogging, I think.  Let’s hope that the subsidized tests at Ancestry and 23andMe don’t serve long term to water down the demand to the point where unsubsidized companies (who don’t selling participants genetic results to others) have problems remaining viable.

Personally, I’ve tested at all of these companies.  I’ll be evaluating the results shortly in detail on my blog at www.dna-explained.com.

The tools provided by most testing companies, plus GedMatch, and multiple ponds to fish in are allowing the serious genetic genealogist to “reconstruct” their genome, attributing segments to specific ancestors.  Conversely, we will also be able to “reconstruct” specific ancestral family lines as well by identifying autosomal segments in multiple descendants.  This new vision of autosomal genetic genealogy will allow much more accurate ancestral line matching, and ancestor identification in the not-so-distant future.

http://www.yourgeneticgenealogist.com/2012/01/family-tree-dna-now-accepting-23andme.html

http://www.yourgeneticgenealogist.com/2012/05/23andme-eliminates-subscription-model.html

http://www.yourgeneticgenealogist.com/2012/10/clarification-of-what-is-available-to.html

http://www.yourgeneticgenealogist.com/2012/12/23andme-receives-50-million-and-drops.html

http://www.thegeneticgenealogist.com/2012/12/26/23andme-and-labcorp-sued-for-patent-infringement/

7. Ethnicity Tests Mature – Minus 1

The good news is that the various ethnicity tests (known as BGA or biogeographical ancestry tests) that provide participants with their percentages of various world populations are improving.  The bad news is that there is currently one bad apple in the card with very misleading percentages – and that is Ancestry.com.

23andMe introduced a new version of their ethnicity product in December, expanding from only 3 geographic categories to several.  The Geno 2.0 test results are just beginning to be returned which include ethnicity predictions and references to several base populations.

Family Tree DNA finally has some competition in this arena where for years they have been the only serious player, although opinions differ widely about which of these three organizations results are the most accurate.  All four are Illumina chip based, using hundreds of thousands of locations, as compared with the previous CODIS type tests which used between 15 and 300 markers and are now outdated.  All companies use different reference populations which, of course, provide somewhat different results to participants.  All companies, except Ancestry, have documented and shared their reference population information.

Outside of these companies, Doug McDonald offers a private analysis and Gedmatch offers a series of BGA comparisons written by third parties.

While this industry continues to grow and mature, I’m thinking about just averaging the autosomal ethnic results and calling it good:)

http://dna-explained.com/2012/07/21/ethnicity-finders/

http://dna-explained.com/2012/10/24/ancestrys-mythical-admixture-percentages/

http://dna-explained.com/2012/12/07/new-worldview-at-23andme/

http://dna-explained.com/2012/09/09/doug-mcdonald-on-biogeograpical-analysis/

http://dna-explained.com/2012/12/11/geno-2-0-results-first-peek/

http://www.yourgeneticgenealogist.com/2012_12_01_archive.html

8. Finding Your Roots PBS Series with Henry Louis Gates

PBS sponsored a wonderful series in the spring of 2012 hosted by Henry Louis “Skip” Gates, the chair of African American Studies at Harvard.  This series followed a lesser known 2010 series.  The 2012 inspirational series reached tens of thousands of people and increased awareness of genetic genealogy as well as sparked an interest in genealogy itself, especially for mixed race and African American people.  I was disappointed that the series did not pursue the Native American results unexpectedly obtained for one participant.  It seemed like a missed opportunity.  Series like this bring DNA testing for genealogy into the mainstream, making it less “strange” and frightening and more desirable for the average person.  These stories were both inspirational and heartwarming.  I hope we can look forward to similar programs in the future.

http://en.wikipedia.org/wiki/Finding_Your_Roots

CeCe Moore covered this series in March and April on her blog.

http://www.yourgeneticgenealogist.com/2012/03/finding-your-roots-with-henry-louis.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_09.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_16.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_23.html

http://www.yourgeneticgenealogist.com/2012/04/finding-your-roots-with-henry-louis_30.html

9. Ancestry, GeneTree and Sorenson

GeneTree, a for profit company and Sorenson, a non-profit company were both purchased by Ancestry.com.  This was about the same time as Ancestry introduced their autosomal AncestryDNA product.  Speculation was that the autosomal results at Sorenson might be the foundation for the new autosomal test comparisons, although there has been no subsequent evidence of this.

Ancestry initially gave away several thousand kits in order to build their data base, then sold thousands more for $99 before raising the price to what appears to be a normalized price of $129 plus an annual ancestry subscription.

While GeneTree was never a major player in the DNA testing marketspace, Sorenson Molecular Genealogical Foundation played an important role for many years as a nonprofit research institute.  There was significant distress in the genetic genealogy community related to the DNA contributed to Sorenson for research being absorbed by Ancestry as a “for profit” company.  Ancestry is maintaining the www.smgf.org website, but no additional results will be added.  Sorenson has been entirely shuttered.  Many of the Sorenson/GeneTree employees appear to have moved over to Ancestry.

The initial AncestryDNA autosomal product offering is poor, lacks tools and the ethnicity portion has significant issues. It’s strength is that many people who test are already Ancestry subscribers and have attached their trees.  So you can’t see how you connect genetically to your matches (lack of tools), but you can see the trees, if they are attached and not marked as private, of those with whom you match.  Ancestry provides “hints” relative to matching individuals or surnames.

Eventually, if Ancestry improves its products, provides tools and releases the raw data to consumers, this may be a good thing.  It’s an important event in 2012 because of the massive size of Ancestry, but the product is mediocre at best.  Ancestry seems unwilling to acknowledge issues unless their feet are held to the fire publicly as illustrated with a “lab error” erroneous match for an adoptee caught by the consuming public and ignored by Ancestry until CeCe Moore exposed them in her blog.  Whether Ancestry ultimately helps or hurts the genetic genealogy industry is a story yet to be told.  There is very little positive press in the genetic genealogy community surrounding the Ancestry product, but with their captive audience, they are clearly going to be a player.

http://www.yourgeneticgenealogist.com/2012/05/ancestrycom-buys-genetree-and-launches.html

http://dna-explained.com/2012/07/12/did-you-test-at-genetree/

http://dna-explained.com/2012/08/30/is-history-repeating-itself-at-ancestry/

http://dna-explained.com/2012/07/18/the-trouble-with-ancestry-com-matches/

http://dna-explained.com/2012/08/14/y-dna-family-tree-dna-vs-ancestry/

http://dna-explained.com/2012/08/16/ancestrys-consent-form-for-ancestrydna-autosomal-test/

http://dna-explained.com/2012/09/10/ancestry-autosomal-results-are-back/

http://dna-explained.com/2012/10/15/ancestrys-dna-survey/

http://dna-explained.com/2012/10/23/ancestry-to-release-array-data-in-2013/

http://dna-explained.com/2012/10/24/ancestrys-mythical-admixture-percentages/

http://www.thegeneticgenealogist.com/2012/06/19/problems-with-ancestrydnas-genetic-ethnicity-prediction/

http://www.yourgeneticgenealogist.com/2012/08/ancestrydna-confusing-relationship.html

http://www.yourgeneticgenealogist.com/2012/08/follow-up-on-ancestrydna-and-adoptees.html

http://www.yourgeneticgenealogist.com/2012/09/23andme-says-no-match-for-adoptees.html

10. GedMatch

GedMatch, www.gedmatch.com, created by John Olson and Curtis Rogers, isn’t new in 2012, but it’s maturing into a tool that is becoming the defacto workhorse of the serious autosomal community.  People who test at either 23andMe or Family Tree DNA download their raw results and other match information and then use a variety of tools at GedMatch to look at results in different ways and using different thresholds. GedMatch is currently working to accept the newly arriving Geno 2.0 data files.  Ancestry does not at this time allow their customers access to their raw data files, so there is nothing to upload. The bad news is that not everyone downloads/uploads their information.  Only the most savvy users, and the download/upload is not always a smooth process, often necessitating several attempts, a magic wand and some fairy dust for luck.

GedMatch is a volunteer effort funded by donations on the GedMatch site.  The magnitude of this project came to light when they needed new servers this year because the amount of traffic disabled their internet service provider.  It may be a volunteer effort, but it has mainstream requirements.  Therefore, while occasionally frustrating, it’s easy to understand why it’s light on documentation and one has to poke around a bit to figure things out.  I would actually prefer that they make it a subscription site, clean up the bugs, add the documentation and take it to the next level.  It would also be very nice if they could arrange something with the major players in terms of a seamless data transfer for clients.  All told, it’s an amazing contribution as a volunteer site.  Hats off to Curtis and John for their ongoing contribution to genetic genealogists!!!

www.gedmatch.com

http://www.legalgenealogist.com/blog/2012/08/12/gedmatch-a-dna-geeks-dream-site/

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research

little a, BIG A, Mitochondrial DNA

During my webinars this week for APG, someone asked a question about mitochondrial DNA and I told them I would follow up on my blog.  I thought I knew the answer, but I needed to be sure.

When I displayed the slide of my full sequence in the RSRS format, they noticed some of the letters were lower case.  Truthfully, since client comparisons are still in the CRS format, I hadn’t paid a lot of attention to my RSRS values except for an initial look-see when the corresponding paper came out (“A ‘Copernican’ Reassessment of the Human Mitochondrial DNA Tree from its Root”)  and the RSRS results were added to our personal page information.  I know, my bad.

In my blogs titled Citizen Science, the CRS and the RSRS and What Happened to My Mitochondrial DNA?, I explained about the CRS and the RSRS.  In a nutshell, the RSRS, the Reconstructed Sapiens Reference Sequence is the new way of interpreting mitochondrial results, comparing them to a “reconstructed” Eve instead of someone who tested in Cambridge in 1981.  That 1981 person set the standard for the CRS, or Cambridge Reference Sequence.

But soon, we will be using the RSRS.  My understanding is that the Geno 2.0 results, although only providing the haplogroup defining mutations, will be given in RSRS format.

So let’s take a look at what this person saw that caused a question.

RJE RSRS

In the last mutation in the coding region, all the way at the end, you see that a mutation is noted as C15452a.

Now let’s take a look at the CRS version.

RJE CRS

You see the same mutation, but it’s noted differently, as 15452A.

What is the difference, or maybe better asked, why the difference?

On the CRS page, the mutations are shown, as above, but there is also a second part of that page, shown below.

rje crs2

On this second part of the results, the normal value in the CRS, and the value carried by the person with the mutation in 1981, is shown.  So this is a translation table for your results.  You can see that it shows that the CRS value for location 15452 is normally C and my value is an A.

What are those Cs and As? Or for that matter the other two letters, T and G?  Well, referring to Tuesday’s introduction class, these are the 4 base nucleotides that make up the “rungs” in the DNA double helix ladder.

T,A,C,G

T, A, C and G are short for Adenine, Cytosine, Thymine and Guanine.  You can see these nucleotides as they each make up half of the connection between opposite sides of the double helix as it uncoils.  Normally, a T is paired with a C and the A is paired with the G.  However, not always.  When a mutation happens, sometimes the pairing is inverted and a C gets paired with an A or a T gets paired with a G.

When a typical mutation happens, meaning T/C and A/G, it’s called a transition.  When a more unusual mutation happens, meaning C/A, A/C, G/T and T/G, it’s called a transversion.  I think this is what I said the other night, but given how often I use these terms, which is almost never, it would have been easy to get them switched.

I know, by now you’re VERY sorry you asked aren’t you:)

But we’re not quite to the answer yet, so please, bear with me and read on.  Remember, this could qualify you to win the new Genetic Genealogy Trivial Pursuit game whenever that version emerges.  We are almost to the punch line….

In order to make life easier and to eliminate the need for a translation table, the new RSRS refers to mutations a little differently.  You’ve guessed by now, haven’t you.  Yep, you’re right, my mutation shown as C15452a has its own translation table built right in.  The mutation location is 15452.  The normal value, meaning the one Eve had (RSRS), as well as the CRS, was a C.  However, my value is an A, but since it’s a little a, we know that this is a transversion, not a transition.  You can see another transversion at my location 825.

Why is this important in genetic genealogy?  It’s not, really, because it’s already taken care of for you.  If someone else has a value there of C15452T, they simply won’t be shown as a match to me with my value of C15424a.  So you don’t have to figure this out, it’s taken care of for you in the matching routine.  But hey, you wanted to know, and now you do.  Good eye for the catch!

You can read more about the RSRS in the paper by Dr. Behar et al, “A ‘Copernican’ Reassessment of the Human Mitochondrial DNA Tree from its Root” or by visiting the website mtDNA Community launched in conjunction with the paper.  And if you’re really a glutton for punishment, check page 677 in the paper for more about different notations and what they mean for mitochondrial DNA.  There is more than just T, A, C and G for inquiring minds that want to know!

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

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CRS Extended Haplogroup

This posting will assuredly come under the category of “things you never really wanted to know.”  The only time this will really come in useful is if Trivial Pursuit adds a genetic genealogy category, which, by the way, I think would be a wonderful idea!

Did you ever wonder about the person who took the original mitochondrial DNA test and became the Cambridge Reference Sequence?  That was in 1981, so that person may well still be alive today.  The Cambridge Reference Sequence, or CRS, is the standard to which the rest of us are compared.  Our results for mitochondrial DNA testing are the differences between us and that mystery person, so while we probably don’t realize it, the CRS and that person are important to all of us.

Simply by the luck of the draw, given that haplogroup H comprises about 50% of the population of Europe, they are likely to be from haplogroup H.  But are they?

Does anyone know?  Ok, Rebekah Canada can’t play, because, well, I know that she knows.  She helped me unravel this.  That should tell you something right there if you’re familiar with some of the genetic genealogy players.  Rebekah is one of the admins for the massive haplogroup H project and the sole admin for many of the subgroups.  So like Bill Hurst is Mr. MtDNA and Jim Logan is Mr. Hap J, Rebekah is Ms. H.  So that should confirm for you right there that indeed the CRS is haplogroup H.  And it is, but which subgroup?

Every haplogroup has a defining list of mutations that must be present (or back mutated) in order to assign that haplogroup level.  This week, I had a client who had a long list of those haplogroup mutations attributed to their haplogroup by definition, but none of the haplogroup defining mutations were listed on their CRS mutation list.  Confused?  There’s a reason for that.  Keep reading.

Care to guess why their list of haplogroup defining mutations was not on their personal page list of mutations?  Someone out there is pretty sharp….indeed….you’re right….it’s because they matched the CRS at all of those haplogroup defining levels.  This means that this person IS the same haplogroup as the CRS.

Does anyone know what haplogroup the CRS falls into at the full sequence level?

Drum roll…….

H2a2a.

Here are the required mutations for the different subclades of H that lead us to H2a2a.  This is the list of mutations that this client “should have” on their personal page.

Haplogroup Required Mutations
H 2706A,   7028C
H2 14384A
H2a 4769A
H2a2 750A
H2a2a 263A, 8860A, 15326A

However, someone who falls into haplogroup H2a2a won’t show any of these mutations on their list of mutations on their personal page that differs from the CRS, because the CRS is defined as “normal” and everything else is a mutation.

These results, shown above, with the exception of two mutations in the HVR2 region, are equivalent to the Cambridge Reference Sequence.  That means that whatever mutations that anonymous CRS individual had when they were sequenced in 1981 became “the norm” and everyone else is compared against them.  So if they HAVE a mutation, it’s not listed as such because it’s now “normal.”  Does this seem somehow backwards?  It is.  But it’s because that’s all we had in the beginning and we had to start with what we had and where we were in 1981.

This backwardness is particularly evident at location 16519.  You’ll notice that this person doesn’t show a difference at this location.  Most of the people in Europe show this location as a mutation.  What this really means is that the CRS has a mutation at that location, but since it’s considered the norm, the rest of the people, well over 50%, show this as a mutation.

But since these haplogroup defining mutations are the “norm” and since they define the CRS, they don’t show up on the list of mutations that differ from the CRS.  The only two mutations that this person has that differs from the CRS are the insertions at locations 309 and 315, shown above.  So in reality, this means that this person has all of those mutations in the haplogroup defining chart above, which are for comparison purposes, “normal,” plus the two below that differ from the CRS.

I realize this is a bit confusing.  Instead of comparing mitochondrial DNA to someone buried on a branch of haplogroup H who was alive in 1981, we should really be comparing everyone to Mitochondrial Eve.  That is exactly why the scientific world is moving to the RSRS model, the Reconstructed Sapiens Reference Sequence.  The RSRS mutations for this person are shown below, as compared to mitochondrial Eve, and you’ll notice all of the mutations shown in the chart above that define haplogroup H2a2a are present, plus the two at location 309 and 315.

If you’d like to test your mitochondrial DNA test, click here and order the full sequence test!

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

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Citizen Science

My husband, Jim, who is kind of a geeky guy in the best of ways and really is interested in genetic genealogy from a technologist’s perspective, asked me a question about the new mitochondrial comparative sequence, the RSRS (Reconstructed Sapiens Reference Sequence).  We’ve been talking about it on the blog and on the various DNA lists for days now.  So it stands to reason we’re talking about it at the dinner table too.

He asked, “Why now?  Why not before when the transition would have been easier?”  That’s a great question!  The answer isn’t nearly as short as the question.  I hate it when he does this to me!

The answer is Citizen Science – that means you and me – lots of us actually.  How is that possible?  Let’s take a look at some history.  It’s actually quite interesting!

In 1981 when the Cambridge Reference Sequence was published as a comparative model, the science of genetics was functionally brand new.  This anonymous person at Cambridge University was the first person to have all 16569 bases of their mitochondria sequenced, something anyone can have today for a couple of hundred dollars.  But back then in the not so distant past, it was groundbreaking.  The Y DNA hadn’t even been mapped yet, so this was the very beginning.  At that point in time, there was no concept of mitochondrial Eve or Y-line Adam.  So the CRS became the norm because we had no other basis for comparison.

In 1999, the CRS was resequenced, and surprisingly, 11 errors were found in the original sequence.  Today that is called the Revised Cambridge Reference Sequence, or rCRS, technically, and that is the sequence that is used for both academia and genetic genealogy.  Most people just refer to it as the Cambridge Reference Sequence because no one would use the older sequence today.

1999 was also the first year that any commercially available genetic genealogy tests were available to the public.  They were available from Oxford Ancestors and were prohibitively expensive, but that didn’t stop many of us from ordering one.  If you bought the book, “Seven Daughters of Eve” you could send in the form in the back of the book, with a hefty check, and you too could discover which of the 7 daughters you descended from.

What you received was one piece of paper in the mail, months later, with a gold attendance star (like from Sunday School when you were a kid) placed on your haplogroup name.  So for several hundred dollars, significantly more than a full sequence test today, I got a gold star on a J.  I still have that certificate and I was unbelievably excited to know I was a member of Jasmine’s clan.  Of course, in order to justify my DNA test, I had to test my husband’s too, so it cost me twice as much!

In the year 2000, Family Tree DNA opened their doors and began selling genetic genealogy testing kits. They also began surname projects.  I don’t know if that was a stroke of genius or a stroke of luck.  Soon thereafter, they added both haplogroup projects and geographic projects.  These various project types allowed people with specific interests to focus on those areas of genetic genealogy.  Little did we know that projects would eventually provide a huge pool of people who have been DNA tested for research areas, such as determining new haplogroups.  In the past all sequencing had been done at academic institutions and often did not use full sequences initially due to the prohibitive cost.  Many of the early academic papers were written with far fewer samples than today’s projects have members.  Full sequence commercial testing has fostered exponential change in this industry.

By 2006, Family Tree DNA was offering the full mitochondrial sequence for genealogists, something still not offered today by any of the other major commercial testing companies.  This not only enabled genealogists to determine who was actually a close match, but it also enabled the haplogroup projects to collect many samples of full sequence data.  The coding region (meaning not the HVR1, HVR2 and HVR3 regions) is not shown in the public projects because of the possibility that they may carry medical information, but they are available for project administrators to see, if the individual participant authorizes administrator view access.

Haplogroups aren’t just determined by the hypervariable (HVR) regions, but by mutations found in the entire mitochondrial sequence, including the coding region.  Never before had groupings of participants this size been available outside of academia, and often, not even within academia.

Many of the project administrators began discovering new haplogroups in a flurry of activity.  Two that come immediately to mind are both Jim Logan and Bill Hurst.  Bill began publishing about haplogroup K in the Fall 2007 JoGG issue, as did Ian Logan with a discussion of what the mitochondrial DNA of “mitochondrial Eve” might look like.  In Spring of 2008, Jim Logan published a groundbreaking paper for haplogroup J, still in use today.  Indeed, citizen science came into its own in the spring of 2005 when the Journal of Genetic Genealogy (JoGG) was launched to facilitate exactly this type of academic publishing effort.  The more traditional publications weren’t quite ready to deal with citizen scientists making discoveries.  Clearly, citizen scientists didn’t fit well into the academic publishing “box.”

Bill Hurst has been collaborating with Dr. Doron Behar for several years now and is recognized in his most recent paper.  They presented a joint session at the 5th International Conference on Genetic Genealogy for DNA Administrators in Houston, Texas in March of 2009.

During this time, Family Tree DNA implemented an authorization system for people to make their full sequence DNA results, if they wanted, available to Dr. Behar for research.

Dr. Behar’s paper (along with several other authors), “A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root” was published earlier this year, defining the RSRS (Reconstructed Sapiens Reference Sequence) revealing the genetic fingerprint of Mitochondrial Eve, the original mother of us all.  He was able to do this, in part, as a result of the many full sequence test results made available by Family Tree DNA customers, you and me, and by the hard work of haplogroup administrators like Bill Hurst and Jim Logan.  Of course, there are many other hard-working administrators too, and I don’t mean to slight anyone.

So, this is a long-winded way to answer Jim’s question, which, in case you’ve forgotten, was “why now for the RSRS and why not before?”  The answer is quite simply, Citizen Scientists were needed.  People like you and me.  Until the stars aligned where haplogroup projects existed, full sequence mitochondrial data became affordable and widely available, and there was a way for genealogists to contribute their results for scientific research, it couldn’t have been done – at least not yet.  It’s been a long way from the gold star on haplogroup J to the beautifully elegant RSRS, the mitochondrial map of Eve, the common ancestor of everyone living today – the entire trip made in just a dozen years.  Congratulations and thank you to everyone involved.  Indeed, it’s really quite a remarkable story!

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Disclosure

I receive a small contribution when you click on some of the links to vendors in my articles. This does NOT increase the price you pay but helps me to keep the lights on and this informational blog free for everyone. Please click on the links in the articles or to the vendors below if you are purchasing products or DNA testing.

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Services

Genealogy Research