Category Archives: Anthropology

Discover’s Ancient Connections – How Are You Related?

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When FamilyTreeDNA released the new Mitotree, they also introduced their new mtDNA Discover tool, which is a series of 13 reports about each haplogroup, including one titled Ancient Connections.

Ancient Connections shows you ancient relatives from your direct matrilineal line through a mitochondrial DNA test or through a Y-DNA (preferably Big Y-700) test.

Ancient Connections help you connect the present to the past based on archaeological excavations around the world and DNA sequencing of remains. Ancient Connections links you through your DNA to ancient people, cultures, and civilizations that would be impossible to discover any other way. You don’t have to wonder if it’s accurate, or which line it came from, because you know based on the test you took. Discover’s Ancient Connections track the journey of your ancestors and relatives.

Ancient Connections can be very exciting – and it’s easy to get swept away on a wave of jubilation.

Are those people your ancestors, or relatives, or what? How do you know? How can you figure it out?

So let me just answer that question generally before we step through the examples, so you can unveil your own connections.

  • You are RELATED to both Ancient and Notable Connections. Notable Connections are famous or infamous people who have lived more recently, and their relatives have been tested to identify their haplogroups.
  • It’s VERY unlikely that Ancient Connections are your direct ancestors – but someone in the line that you share IS your ancestor.
  • Many factors enter into the equation of how you are related, such as the haplogroup(s), the timeframe, and the location.
  • The sheer number of people who were living at any specific time makes it very unlikely that any one person with that haplogroup actually was your direct ancestor. They are much more likely to be your distant cousin.

Factors such as whether you share the same haplogroup, similar locations, and the timeframe make a huge difference. Everyone’s situation is different with each Ancient Connection.

Ok, are you ready for some fun???

Let’s find out how to leverage these tools.

Ancient Connections

Ancient connections are fun and can also be quite useful for genealogy.

In this article, I’m going to use a mitochondrial DNA example because full sequence testers at FamilyTreeDNA just received their new Mitotree haplogroup. mtDNA Discover was released with Mitotree, so it’s new too. However, the evaluation process is exactly the same for Y-DNA.

Everyone’s results are unique, so your mileage absolutely WILL vary. What we are going to learn here is a step-by-step analytical process to make sure you’re hearing the message from your ancestors – and interpreting it correctly.

To learn about your new mitochondrial DNA haplogroup and haplotype, read the articles:

Radegonde Lambert

Let’s start with an Acadian woman by the name of Radegonde Lambert. She’s my ancestor, and I wrote about her years ago in the article, Radegonde Lambert (1621/1629-1686/1693), European, Not Native.

At the time, that article caused a bit of a kerfluffle, along with the article, Haplogroup X2b4 is European, Not Native American, because Radegonde’s X2b4 haplogroup had been interpreted by some to mean that her matrilineal ancestors were Native American.

That often happens when a genealogical line abruptly ends and hits a brick wall. What probably began with “I wonder if…”, eventually morphed into “she was Native,” when, in fact, she was not. In Radegonde’s case, it didn’t help any that her haplogroup was X2b4, and some branches of base haplogroup X2 are in fact Native, specifically X2a, However, all branches of X2 are NOT Native, and X2b, which includes X2b4, is not.

The Acadians were French people who established a colony in what is now Nova Scotia in the 1600s. They did sometimes intermarry with the Native people, so either Native or European heritage is always a possibility, and that is exactly why DNA testing is critically important. Let’s just say we’ve had more than one surprise.

I always reevaluate my own work when new data becomes available, so let’s look to see what’s happening with Radegonde Lambert now, with her new haplogroup and mtDNA Discover.

Sign on and Identify Your Haplogroup

You can follow along here, or sign on to your account at FamilyTreeDNA.

The first step is to take note of your new Mitotree haplogroup.

Your haplogroup badge is located near the bottom right of your page after signing in.

The tester who represents Radegonde Lambert has a Legacy Haplogroup of X2b4 and has been assigned a new Mitotree haplogroup of X2b4g.

Click Through to Discover

To view your personal Discover information, click on the Discover link on your dashboard.

You can simply enter a haplogroup in the free version of mtDNA Discover, but customers receive the same categories, but significantly more information if they sign in and click through.

You can follow along on the free version of Discover for haplogroups X2b4 here, and X2b4g here.

Clicking on either the Time Tree, or the Classic Tree shows that a LOT has changed with the Mitotree update.

Each tree has its purpose. Let’s look at the Classic Tree first.

The Classic Tree

I like the Classic Tree because it’s compact, detailed and concise, all in one. Radegonde Lambert’s new haplogroup, X2b4g is a subgroup of X2b4, so let’s start there.

Click on any image to enlarge

Under haplogroup X2b4, several countries are listed, including France. There are also 7 haplotype clusters, which tell you that those testers within the cluster all match each other exactly.

It’s worth noting that the little trowels (which I thought were shovels all along) indicate ancient samples obtained from archaeological digs. In the Discover tools, you’ll find them under Ancient Connections for that haplogroup. We will review those in a minute.

In Mitotree, haplogroup X2b4 has now branched several granular and more specific sub-haplogroups.

Radegonde Lambert’s new haplogroup falls below another new haplogroup, X2b4d’g, which means that haplogroup X2b4d’g is now the parent haplogroup of both haplogroups X2b4d and X2b4g. Both fall below X2b4d’g.

Haplogroup names that include an apostrophe mean it’s an umbrella group from which the two haplogroups descend – in this case, both X2b4d and X2b4g. Apostrophe haplogroups like X2b4d’g are sometimes referred to as Inner Haplogroups.

You can read more about how to understand your haplogroup name, here.

In this case, haplogroup X2b4d’g is defined by mutation G16145A, which is found in both haplogroups X2b4d and X2b4g. Both of those haplogroup have their own defining mutations in addition to G16145A, which caused two branches to form beneath X2b4d’g.

You can see that Radegonde Lambert’s haplogroup X2b4g is defined by mutation C16301T, but right now, that really doesn’t matter for what we’re trying to accomplish.

In descending order, for Radegonde, we have haplogroups:

  • X2b4
  • X2b4d’g
  • X2b4g

Your Match Page

Looking at the tester’s match page, Radegonde’s haplotype cluster number and information about the cluster are found below the haplogroup. You can view your cluster number on:

  • Your match page
  • The Match Time Tree beside your name and those of your matches in the same haplotype cluster
  • The Scientific Details – Variants page

I wrote about haplotype clusters, here.

Click on any image to enlarge

On your match page, which is where most people look first, you are in the same haplogroup and haplotype cluster with anyone whose circle is also checked and is blue. If the little circles are not checked and blue, you don’t share either that haplogroup, haplotype cluster, or haplogroup and haplotype cluster. If you share a haplotype cluster, you will always share the same haplogroup.

Haplotype clusters are important because cluster members match on exactly the same (but less stable) mutations IN ADDITION to haplogroup-defining (more stable) mutations.

However, you may also share an identifiable ancestor with people in different haplotype clusters. Mutations, and back mutations happen – and a lot more often at some mutation locations, which is why they are considered less stable. Normally, though, your own haplotype cluster will hold your closest genealogical matches.

In Discover, you can see that Radegonde’s haplotype cluster, F585777, displays three tester-supplied countries, plus two more. Click on the little plus to expand the countries.

What you’re viewing are the Earliest Known Ancestor (EKA) countries that testers have entered for their direct matrilineal ancestor.

Let’s hope they understood the instructions, and their genealogy information was accurate.

Notice that Canada and France are both probably quite accurate for Radegonde, based on the known history of the Acadians. There were only French and Native women living in Nova Scotia in the 1600s, so Radegonde had to be one or the other.

The US may be accurate for a different tester whose earliest known ancestor (EKA) may have been found in, say, Louisiana. Perhaps that person has hit a brick wall in the US, and that’s all they know.

The US Native American flag is probably attributable to the old “Native” rumor about Radegonde, and the tester didn’t find the Canadian First Nations flag in the “Country of Origin” dropdown list. Perhaps that person has since realized that Radegonde was not Native and never thought to change their EKA designation.

The little globe with “Unknown Origins” is displayed when the tester doesn’t select anything in the “Country of Origin.”

Unfortunately, this person, who knew when Radegonde Lambert lived, did not complete any additional information, and checked the “I don’t know this information” box. Either Canada, or France would have been accurate under the circumstances. If they had tracked Radegonde back to Canada and read about her history, they knew she lived in Canada, was Acadian, and therefore French if she was not Native. Providing location information helps other testers, whose information, in turn, helps you.

Please check your EKA, and if you have learned something new, PLEASE UPDATE YOUR INFORMATION by clicking on the down arrow by your user name in the upper right hand corner, then Account Settings, then Genealogy, then Earliest Known Ancestors.

Don’t hesitate to email your matches and ask them to do the same. You may discover that you have information to share as well. Collaboration is key.

Radegonde’s Discover Haplogroup

First, let’s take a look at Radegonde’s haplogroup, X2b4g, in Discover.

The Discover Haplogroup Story landing page for haplogroup X2b4g provides a good overview. Please READ this page for your own haplogroup, including the little information boxes.

The history of Radegonde’s haplogroup, X2b4g, is her history as well. It’s not just a distant concept, but the history of a woman who is the ancestor of everyone in that haplogroup, but long before surnames. Haplogroups are the only way to lift and peer behind the veil of time to see who our ancestors were, where they lived, and the cultures they were a part of.

We can see that Radegonde’s haplogroup, X2b4g, was born in a woman who lived about 300 CE, Common (or Current) Era, meaning roughly the year 300, which is 1700 years ago, or 1300 years before Radegonde lived.

  • This means that the tester shares a common ancestor with everyone, including any X2b4g remains, between now and the year 300 when haplogroup X2b4g was born.
  • This means that everyone who shares haplogroup X2b4g has the same common female ancestor, in whom the mutation that defines haplogroup X2b4g originated. That woman, the common ancestor of everyone in haplogroup X2b4g, lived about the year 300, or 1700 years ago.
  • Your common ancestor with any one individual in this haplogroup can have lived ANYTIME between very recently (like your Mom) and the date of your haplogroup formation.
  • Many people misinterpret the haplogroup formation date to mean that’s the date of the MRCA, or most recent common ancestor, of any two people. It’s not, the haplogroup formation date is the date when everyone, all people, in the haplogroup shared ONE ancestor.
  • The MRCA, or most recent common ancestor, is your closest ancestor in this line with any one person, and the TMRCA is the “time to most recent common ancestor.” It could be your mother, or if your matrilineal first cousin tested, your MRCA is your grandmother, and the TMRCA is when your grandmother was born – not hundreds or thousands of years ago.
  • Don’t discount mitochondrial DNA testing by thinking that your common ancestor with your matches (MRCA) won’t be found before the haplogroup birth date – the year 300 in Radegonde’s case. The TMRCA for all of Radegonde’s descendants is about 1621 when she was born.
  • The haplogroup birth date, 1700 years ago, is the common ancestor for EVERYONE in the haplogroup, taken together.
  • Mitochondrial DNA is useful for BOTH recent genealogy and also reveals more distant ancestors.
  • Looking back in time helps us understand where Radegonde’s ancestors lived, which cultures they were part of, and where.

There are two ways to achieve that: Radegonde’s upstream or parent haplogroups, and Ancient Connections.

Parent Haplogroups

X2b4g split from X2b4d’g, the parent haplogroup of BOTH X2b4d and X2b4g, around 3700 years ago, or about 1700 BCE (Before Common (or Current) Era).

Looking at either the Classic Tree, the Time Tree (above) or the Match Time Tree, you can see that haplogroup X2b4g has many testers, and none provide any locations other than France, Canada, the US, unknown, and one Native in the midst of a large haplotype cluster comprised of French and Canadian locations. Due to the size of the cluster, it’s only partially displayed in the screen capture above.

You can also see that sister haplogroup X2b4d split from X2b4d’g around the year 1000, and the ancestors of those two testers are reported in Norway.

Many, but not all of the X2b4g testers are descendants of Radegonde. Even if everyone is wrong and Radegonde is not French, that doesn’t explain the other matches, nor how X2b4g’s sister haplogroup is found in Norway.

Clearly, Radegonde isn’t Native, but there’s still more evidence to consider.

Let’s dig a little deeper using Radegonde’s Ancient Connections.

Ancient Connections

While ancestor and location information are user-provided, Ancient Connections are curated from scientifically published papers. There’s no question about where those remains were found.

When signed in to your account, if you’ve taken the mtFull Sequence test, clicking on the Ancient Connections tab in Discover shows a maximum of around 30 Ancient Connections. If you’re viewing the free version of Discover, or you’ve only tested at the HVR1 or HVR1+HVR2 levels, you’ll see two of your closer and one of your most distant Ancient Connections. It’s easy to upgrade to the mtFull.

In Discover, the first group of Ancient Connections are genetically closest to you in time, and the last connections will be your most distant. Some connections may be quite rare and are noted as such.

Please keep in mind that oldest, in this case, Denisova 8 and Sima de los Huesos, will never roll off your list. However, as new studies are released and the results are added to the tree, you may well receive new, closer matches. New results are being added with each Discover update.

It’s very exciting to see your Ancient Connections, but I need to say three things, loudly.

  1. Do NOT jump to conclusions.
  2. These remains are probably NOT YOUR ANCESTORS, but definitely ARE your distant cousins.
  3. Ancient Connections ARE wonderful hints, especially when taken together with each other and additional information.

It’s VERY easy to misinterpret Ancient Connections because you’re excited. I’ve done exactly that. To keep the assumption monster from rearing its ugly head, I have to take a breath and ask myself a specific set of questions. I step through the logical analysis process that I’m sharing with you.

The first thing I always want to know is where the genetically closest set of remains was found, when, and what we know about them, so let’s start there. Keep in mind that the closest remains genetically may not be the most recent set of remains to have lived. For example, my own haplogroup will be the closest genetically, but that person may have lived 2000 years ago. An Ancient Connection in a more distant haplogroup may have lived only 1000 years ago. The closest person genetically is NOT the same as the person who lived the most recently.

Our tester, Radegonde’s descendant, has no Ancient Connections in haplogroup X2b4g or X2b4d’g, but does have two in haplogroup X2b4, so let’s start there.

Discover provides a substantial amount of information about each set of ancient remains. Click on the results you want to view, and the information appears below.

Radegonde’s first Ancient Connection is Carrowkeel 534. The graphic shows the tester, the Ancient Connection being viewed, and their shared ancestor’s haplogroup. In this case, the shared ancestor haplogroup of Carrowkeel 534 and the tester is X2b4, who lived about 5000 years ago.

It’s very easy to look at Carrowkeel 534, become smitten, and assume that this person was your ancestor.

By Shane Finan – Own work, CC BY-SA 4.0, https://commons.wikimedia.org/w/index.php?curid=35098411

It’s especially easy if you WANT that person to be your ancestor. Carrowkeel 534 was buried in a passage tomb in County Sligo, Ireland. I’ve been there.

However, don’t let your emotions get involved – at least not yet.

This is the first example of the steps that determine that these remains are NOT YOUR ANCESTOR.

  • Carrowkeel 534 was a male, and we all know that males do not pass on their mitochondrial DNA. Well, that’s an inconvenient fact.😊
  • There are two sets of X2b4 remains in Ancient Connections. Carrowkeel 534 remains are about 4600-5000 years old, and your common ancestor with them lived about 5000 years ago. However, Radegonde was French and migration from Ireland to France is not typical.
  • The other set of X2b4 remains, Ladoga 16, lived more recently, between the years of 900 and 1200 (or 800-1100 years ago), but they are found in Russia.
  • Radegonde’s parent haplogroup, X2b4d’g was born about 3700 years ago, which excludes the Russian remains from being Radegonde’s direct ancestor.
  • Radegonde’s common ancestor with both these sets of remains lived about 5000 years ago, but these remains were not found even close to each other.

In fact, these remains, if walking, are about 3299 km (2049 miles) apart, including two major water crossings.

  • Given that Radegonde is probably French, finding her ancestor around 5000 years ago in an Irish passage tomb in County Sligo, or in a location east of St. Petersburg, is extremely unlikely.

What IS likely, though, is that X2b4d’g descendants of your common ancestor with both sets of remains, 5000 years ago, went in multiple directions, meaning:

  • Radegonde’s ancestor found their way to France and along the way incurred the mutations that define X2b4d’g and X2b4g by the year 1600 when she lived, or about four hundred years ago.
  • Another X2b4 descendant found their way to what is today Ireland between 4600 and 5000 years ago
  • A third X2b4 descendant found their way to Russia between 800-1100 years ago, and 5000 years ago

If any question remains about the genesis of Radegonde’s ancestors being Native, Ancient Connections disproves it – BUT – there’s still an opportunity for misunderstanding, which we’ll see in a few minutes.

Ancient Connections Analysis Chart

I’ve created an analysis chart, so that I can explain the findings in a logical way.

Legend:

  • Hap = Haplogroup
  • M=male
  • F=female
  • U=unknown

Please note that ancient samples are often degraded and can be missing important mutations. In other words, the tree placement may be less specific for ancient samples. Every ancient sample is reviewed by FamilyTreeDNA’s genetic anthropologist before it’s placed on the tree.

Ancient samples use carbon dating to determine ages. Sometimes, the carbon date and the calculated haplogroup age are slightly “off.” The haplogroup age is a scientific calculation based on a genetic clock and is not based on either genealogy or ancient burials. The haplogroup age may change as the tree matures and more branches are discovered.

I’m dividing this chart into sections because I want to analyze the findings between groups.

The first entry is the earliest known ancestor of the current lineage – Radegonde Lambert, who was born about 1621, or roughly 400 years ago. I’ve translated all of the years into “years ago” to avoid any confusion.

If you wish to do the same, with CE (Current or Common Era) dates, subtract the date from 2000. 300 CE= (2000-300) or1700 years ago. With BCE dates, add 2000 to the BCE number. 1000 BCE= (1000+2000) or 3000 years ago.

Connection Identity Age Years Ago Location & Cultural Group Hap Hap Age Years Ago Shared Hap Shared Hap Age Years Ago
Radegonde Lambert (F) 400 France or Canada -Acadian X2b4g 1700 X2b4 5000
Carrowkeel 534 (M) 4600-5100 Sligo, Ireland – Neolithic Europe X2b4 5000 X2b4 5000
Ladoga 16 (M) 800-1100 Ladoga, Russia Fed – Viking Russia X2b4 5000 X2b4 5000
  • Age Years Ago – When the Ancient Connection lived
  • Hap Age Years Ago – When the haplogroup of the Ancient Connection (X2b4) originated, meaning was born
  • Shared Hap Age Years Ago – When the Shared Ancestor of everyone in the Shared Haplogroup originated (was born)

In this first section, the haplogroup of the Ancient Connections and the Shared Haplogroup is the same, but that won’t be the case in the following sections. Radegonde Lambert’s haplogroup is different than her shared haplogroup with the Ancient Connections.

Let’s assume we are starting from scratch with Radegonde.

The first question we wanted to answer is whether or not Radegonde is European, presumably French like the rest of the Acadians, or if she was Native. That’s easy and quick.

Native people crossed Beringia, arriving from Asia someplace between 12,000 and 25,000 years ago in multiple waves of migration that spread throughout both North and South America.

Therefore, given that the first two samples, Carrowkeel 534 and Ladoga 16, share haplogroup X2b4, an upstream haplogroup with Radegonde Lambert, and haplogroup X2b4 was formed around 5000 years ago, the answer is that Radegonde’s X2b4 ancestor, whoever that was, clearly lived in Europe, NOT the Americas.

According to Discover, Haplogroup X2b4:

  • Was formed about 5000 years ago
  • Has 16 descendant haplogroups
  • Has 29 unnamed lineages (haplotype clusters or individuals with no match)
  • Includes testers whose ancestors are from 23 countries

The Country Frequency map shows the distribution of X2b4, including all descendant haplogroups. Please note that the percentages given are for X2b4 as a percentage of ALL haplogroups found in each colored country. Don’t be misled by the relative physical size of the US and Canada as compared to Europe.

The table view shows the total number of self-identified locations of the ancestors of people in haplogroup X2b4 and all downstream haplogroups.

The Classic Tree that we looked at earlier provides a quick view of X2b4, each descendant haplogroup and haplotype cluster, and every country provided by the 331 X2b4 testers.

For the X2b4 Ancient Connections, we’ve already determined:

  • That Radegonde’s ancestors were not Native
  • Carrowkeel 534 is a male and cannot be Radegonde’s ancestor. It’s extremely likely that Carrowkeel 534’s mother is not Radegonda’s ancestor either, based on several factors, including location.
  • Based on dates of when Ladoga 16 lived, and because he’s a male, he cannot be the ancestor of Radegonde Lambert.

Radegonda’s haplogroup was formed long before Ladoga 16 lived. Each Ancient Connection has this comparative Time Tree if you scroll down below the text.

  • Both Carrowkeel and Ladoga share an ancestor with our tester, and Radegonde, about 5000 years ago.

Think about how many descendants the X2b4 ancestor probably had over the next hundreds to thousands of years.

  • We know one thing for sure, absolutely, positively – X2b4 testers and descendant haplogroups live in 32 countries. People migrate – and with them, their haplogroups.

What can we learn about the genealogy and history of Radegonde Lambert and her ancestors?

We find the same haplogroup in multiple populations or cultures, at different times and in multiple places. Country boundaries are political and fluid. What we are looking for are patterns, or sometimes, negative proof, which is often possible at the continental level.

X2b4, excluding downstream haplogroups, is found in the following locations:

  • Bulgaria
  • Canada (2)
  • Czech Republic
  • England (2)
  • Finland (2)
  • France (3)
  • Germany (4)
  • Portugal
  • Scotland (2)
  • Slovakia (2)
  • Sweden (2)
  • UK (2)
  • Unknown (11)
  • US (2)

Note that there are three people in France with haplogroup X2b4 but no more refined haplogroup.

Looking at X2b4’s downstream haplogroups with representation in France, we find:

  • X2b4a (none)
  • X2b4b (none)
  • X2b4b1 (1)
  • X2b4d’g (none)
  • X2b4d (none)
  • X2b4g (24) – many from Radegonde’s line
  • X2b4e and subgroups (none)
  • X2b4f (none)
  • X2b4j and subgroups (none)
  • X2b4k (none)
  • X2b4l (1)
  • X2b4m (none)
  • X2b4n and subgroups (none)
  • X2b4o (none)
  • X2b4p (none)
  • X2b4r (none)
  • X2b4+16311 (none)

I was hoping that there would be an Ancient Connection for X2b4, X2b4d’g, or X2b4g someplace in or even near France – because that makes logical sense if Radegonde is from France.

All I can say is “not yet,” but new ancient sites are being excavated and papers are being released all the time.

Ok, so moving back in time, let’s see what else we can determine from the next set of Ancient Connections. Haplogroup X2b1”64 was formed about 5050 years ago.

Connection Identity Age Years Ago Location & Cultural Group Hap Hap Age Years Ago Shared Hap Shared Hap Age Years Ago
Radegonde Lambert (F) 400 France or Canada X2b4g 1700
Carrowkeel 534 (M) 5100-4600 Sligo, Ireland – Neolithic Europe X2b4 5000 X2b4 5000
Ladoga 16 (M) 800-1100 Ladoga, Russia Fed – Viking Russia X2b4 5000 X2b4 5000
Parknabinnia 186 (M) 5516-5359 Clare, Ireland – Neolithic Europe X2b1”64 5516-5259 X2b1”64 Before 5050 years ago
Rössberga 2 (M) 5339-5025 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 29 (M) 5366-5100 Vastergotland, Sweden – Funnel Beaker and Early Plague X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 38 (M) 5340-5022 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Monte Sirai 797263 (U) 2600-2400 Monte Sirai, Italy (Sardinia) – Phoenicians X2b35a1 3350 X2b1”64 5050
Bogovej 361 (F) 1000-1100 Lengeland, Denmark – Viking Denmark X2b1”64 5516-5259 X2b1”64 5050
Ladoga 410 (M) 800-1000 Leningrad Oblast, Russia – Viking Russia X2b1”64 5516-5259 X2b1”64 5050

Our first group ended with haplogroup X2b4, and our second group consists of haplogroup X2b1”64, the parent haplogroup of X2b4. X2b1”64 is a significantly larger haplogroup with many downstream branches found throughout Europe, parts of western Asia, the Levant, India, and New Zealand (which probably reflects a colonial era settler). The Country Frequency Map and Table are found here.

X2b1”64 is just slightly older than X2b4, but it’s much more widespread, even though they were born about the same time. Keep in mind that haplogroup origination dates shift as the tree is developed.

  • These seven individuals who share X2b1”64 as their haplogroup could be related to each other individually, meaning their MRCA, anytime between when they lived and when their haplogroup was formed.
  • The entire group of individuals all share the same haplogroup, so they all descend from the one woman who formed X2b1”64 about 5050 years ago. She is the shared ancestor of everyone in the haplogroup.

One X2b4 and one X2b1”64 individual are found in the same archaeological site in Russia. Their common ancestor would have lived between the time they both lived, about 800 years ago, to about 5000 years ago. It’s also possible that one of the samples could be incomplete.

A second X2b1”64 Ancient Connection is found in the Court Tomb in County Clare, Ireland, not far from the Carrowkeel 534 X2b4 site.

However, Monte Sirai is fascinating, in part because it’s not found near any other site. Monte Sirai is found all the way across France, on an island in the Tyrrhenian Sea.

It may be located “across France” today, but we don’t know that the Phoenician Monte Sirai site is connected with the Irish sites. We can’t assume that the Irish individuals arrived as descendants of the Monte Sirai people, even though it would conveniently fit our narrative – crossing France. Of course, today’s path includes ferries, which didn’t exist then, so if that trip across France did happen, it could well have taken a completely different path. We simply don’t know and there are very few samples available.

Three Ancient Connections are found in the Rössberga site in Sweden and another in  Denmark.

Adding all of the Ancient sites so far onto the map, it looks like we have two clusters, one in the northern latitudes, including Denmark, Sweden, and Russia, and one in Ireland with passage burials, plus one single Connection in Monte Sirai.

If I were to approximate a central location between all three, that might be someplace in Germany or maybe further east. But remember, this is 5000 years ago and our number of samples, as compared to the population living at the time is EXTREMELY LIMITED.

Let’s move on to the next group of Ancient Connections, who have different haplogroups but are all a subset of haplogroup X2.

Identity Age Years Ago Location & Cultural Group Hap Hap Age Years Ago Shared Hap Shared Hap Age Years Ago
Radegonde Lambert (F) 400 France or Canada X2b4g 1700
Carrowkeel 534 (M) 5100-4600 Sligo, Ireland – Neolithic Europe X2b4 5000 X2b4 5000
Ladoga 16 (M) 800-1100 Ladoga, Russia Fed – Viking Russia X2b4 5000 X2b4 5000
Parknabinnia 186 (M) 5516-5359 Clare, Ireland – Neolithic Europe X2b1”64 5516-5259 X2b1”64 Before 5050
Ross Rössberga 2 (M) 5339-5025 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 29 (M) 5366-5100 Vastergotland, Sweden – Funnel Beaker and Early Plague X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 38 (M) 5340-5022 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Monte Sirai 797263 (U) 2600-2400 Monte Sirai, Italy (Sardinia) – Phoenicians X2b35a1 3350 X2b1”64 5050
Bogovej 361 (F) 1000-1100 Lengeland, Denmark – Viking Denmark X2b1”64 5516-5259 X2b1”64 5050
Ladoga 410 (M) 800-1000 Leningrad Oblast, Russia – Viking Russia X2b1”64 5516-5259 X2b1”64 5050
Barcin 31 (M) 8236-8417 Derekoy, Turkey – Neolithic Anatolia Ceramic X2m2’5’7^ 9200 X2b”aq 13,000
Abasar 55 (M) 500-800 Abasár Bolt-tető, Abasar, Hungary – Medieval Hungary X2m1e 5350 X2b”aq 13,000
Gerdrup 214 3779-3889 Gerdrup, Sealand, Denmark – Middle Bronze Age X2c1 3400 X2+225 13,000
Sweden Skara 275 800-1100 Varnhem, Skara, Sweden – Viking Sweden X2c1 3400 X2+225 13,000
Kopparsvik 225 950-1100 Gotland, Sweden – Viking Sweden X2z 5650 X2+225 13,000
Sandomierz 494 900-1100 Sandomierz, Poland – Viking Poland X2c2b 1650 X2+225 13,000
Kennewick man 8390-9250 Kennewick, Washington – Native American X2a2’3’4^ 10,450 X2 13,000
Roopkund 39 80-306 Roopkund Lake, Uttarakhand, India – Historical India X2d 13,000 X2 13,000

The next several Ancient Connections have haplogroups that are a subgroup of haplogroup X2. These people lived sometime between 500 years ago in Hungary, and 8390-9250 years ago when Kennewick Man lived in the present-day state of Washington in the US. Kennewick Man merits his own discussion, so let’s set him aside briefly while we discuss the others.

The important information to be gleaned here isn’t when these people lived, but when Radegonde shared a common ancestor with each of them. The shared haplogroup with all of these individuals was born about 13,000 years ago.

Looking at the map again, and omitting both X2 samples, we can see that the descendants of that shared ancestor 13,000 years ago are found more widely dispersed.

Including these additional burials on our map, it looks like we have a rather large Swedish and Viking cluster, where several of the older burials occurred prior to the Viking culture. We have a Southeastern Europe cluster, our two Irish tomb burials, and our remaining single Monte Sirai Phoenician burial on the island of Sardinia.

Stepping back one more haplogroup to X2, which was born about the same time, we add a burial in India, and Kennewick Man.

The Migration Map

The Migration map in Discover provides two different features.

  • The first is the literal migration map for the various ancestral haplogroups as they migrated out of Africa, if in fact yours did, culminating in your base haplogroup. In this case, the base haplogroup is X2, which is shown with the little red circle placed by FamilyTreeDNA. I’ve added the red squares, text and arrows for emphasis.
  • The second feature is the mapped Ancient Connections, shown with little brown trowels. Clicking on each one opens a popup box.

After haplogroup X2 was formed, it split into haplogroups X2a and X2b.

The X2a group, Kennewick Man’s ancestors, made their way eastward, across eastern Russia to Beringia where they crossed into the Americas.

They either crossed Beringia, follow the Pacific coastline, or both, eventually making their way inland, probably along the Hood River, to where Kennewick Man was found some 2,800 years later on the banks of the Kennewick River.

The X2b group made their way westward, across western Europe to a location, probably France, where Radegonde Lamberts’ ancestors lived, and where Radegonde set sail for Nova Scotia.

After being separated for nearly 13,000 years, the descendants of the single woman who founded haplogroup X2 and lived someplace in central Asia around 13,000 years ago would find themselves on opposite coasts of the same continent.

So, no, Radegonde Lambert was not Native American, but her 600th matrilineal cousin or so, Kennewick Man, absolutely was.

Radegonde Lambert and Kennewick Man

Here’s where confirmation bias can rear its ugly head. If you’re just scanning the Ancient Connections and see Kennewick Man, it would be easy to jump to conclusions, leap for joy, slap a stamp of “confirmed Native American” on Radegonde Lambert, and never look further. And if one were to do that, they would be wrong.

Let’s work through our evaluation process using Discover.

Radegonde Lambert and Kinnewick Man, an early Native American man whose remains were found Kennewick, Washington in 1996, are both members of the broader haplogroup X2. Kennewick Man lived between 8290 and 9350 years ago, and their shared ancestor lived about 13,000 years ago – in Asia, where mitochondrial haplogroup X2 originated. This is the perfect example of one descendant line of a haplogroup, X2 in this case, going in one direction and a second one traveling in the opposite direction.

Two small groups of people were probably pursuing better hunting grounds, but I can’t help but think of a tundra version of the Hatfields and McCoys and cousin spats.

“I’m going this way. There are better fish on that side of the lake, and I won’t have to put up with you.”

“Fine, I’m going that way. There are more bears and better hunting up there anyway.”

Their wives, who are sisters, “Wait, when will I ever see my sister again?”

One went east and one went west.

X2a became Native American and X2b became European.

Looking back at our information about Kennewick Man, his haplogroup was born significantly before he lived.

He was born about 8390-9250 years ago, so let’s say 8820 years ago, and his haplogroup was born 10,500 years ago, so about 1680 years before he lived. That means there were many generations of women who carried that haplogroup before Kennewick Man.

Let’s Compare

Discover has a compare feature.

I want to Compare Radegonde Lambert’s haplogroup with Kennewick Man’s haplogroup X2a2’3’4^.

The Compare tool uses the haplogroup you are viewing, and you enter a second haplogroup to compare with the first.

The ancestral path to the shared ancestor, meaning their shared haplogroup, is given for each haplogroup entered. That’s X2 in this case. Then, from the shared haplogroup back in time to Mitochondrial Eve.

I prefer to view this information in table format, so I created a chart and rounded the haplogroup ages above X2.

Hap Age – Years Ago Radegonde’s Line Shared Ancestors and Haplogroups Kennewick’s Line Hap Age – Years Ago
143,000 mt-Eve
130,000 L1”7
119,000 L2”7
99,000 L2’3’4’6
92,000 L3’4’6
73,500 L3’4
61,000 L3
53,000 N
53,000 N+8701
25,000 X
22,500 X1’2’3’7’8
13,000 X2 – Asia
13,000 X2+225 X2a 10,500
12,900 X2b”aq X2a2’3’4^ 10,400 Kennewick Man born c 8800 years ago
11,000 X2b
5,500 X2b1”64
5,000 X2b4
1,900 X2b4d’g
Radegonde Lambert born c 1661 – 400 years ago 1,700 X2b4g

More Ancient Connections

Radegonde Lambert’s matrilineal descendants have an additional dozen Ancient Connections that are found in upstream haplogroup N-8701. Their shared ancestors with Radegonde reach back to 53,000 years ago in a world far different than the one we inhabit today. I’m not going to list or discuss them, except for one.

Identity Age Years Ago Location & Cultural Group Hap Hap Age Years Ago Shared Hap Shared Hap Age Years Ago
Radegonde Lambert (F) 400 France or Canada X2b4g 1700
Carrowkeel 534 (M) 5100-4600 Sligo, Ireland – Neolithic Europe X2b4 5000 X2b4 5000
Ladoga 16 (M) 800-1100 Ladoga, Russia Fed – Viking Russia X2b4 5000 X2b4 5000
Parknabinnia 186 (M) 5516-5359 Clare, Ireland – Neolithic Europe X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 2 (M) 5339-5025 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 29 (M) 5366-5100 Vastergotland, Sweden – Funnel Beaker and Early Plague X2b1”64 5516-5259 X2b1”64 Before 5050
Rössberga 38 (M) 5340-5022 Vastergotland, Sweden – Funnel Beaker X2b1”64 5516-5259 X2b1”64 Before 5050
Monte Sirai 797263 (U) 2600-2400 Monte Sirai, Italy (Sardinia) – Phoenicians X2b35a1 3350 X2b1”64 5050
Bogovej 361 (F) 1000-1100 Lengeland, Denmark – Viking Denmark X2b1”64 5516-5259 X2b1”64 5050
Ladoga 410 (M) 800-1000 Leningrad Oblast, Russia – Viking Russia X2b1”64 5516-5259 X2b1”64 5050
Barcin 31 (M) 8236-8417 Derekoy, Turkey – Neolithic Anatolia Ceramic X2m2’5’7^ 9200 X2b”aq 13,000
Abasar 55 (M) 500-800 Abasár Bolt-tető, Abasar, Hungary – Medieval Hungary X2m1e 5350 X2b”aq 13,000
Gerdrup 214 3779-3889 Gerdrup, Sealand, Denmark – Middle Bronze Age X2c1 3400 X2+225 13,000
Kopparsvik 225 950-1100 Gotland, Sweden – Viking Sweden X2z 5650 X2+225 13,000
Sandomierz 494 900-1100 Sandomierz, Poland – Viking Poland X2c2b 1650 X2+225 13,000
Sweden Skara 275 800-1100 Varnhem, Skara, Sweden – Viking Sweden X2c1 3400 X2+225 13,000
Kennewick man 8390-9250 Kennewick, Washington – Native American X2a2’3’4^ 10,450 X2 13,000
Roopkund 39 80-306 Roopkund Lake, Uttarakhand, India – Historical India X2d 13,000 X2 13,000
Ranis 10 43,500-47,000 Ranis, Germany – LRJ Hunger Gatherer N3’10 53,000 N+8701 53,000
Zlatý kůň woman 47,000 Czech Republic – N+8701 53,000 N+8701 53,000

Zlatý kůň Woman

Zlatý kůň Woman lived some 43,000 years ago and her remains were discovered in the Czech Republic in 1950.

Believed to be the first anatomically modern human to be genetically sequenced, she carried about 3% Neanderthal DNA. Europeans, Asians and indigenous Americans carry Neanderthal DNA as well.

Unlike many early remains, Zlatý kůň Woman’s facial bones have been scanned and her face approximately reconstructed.

There’s something magical about viewing a likeness of a human that lived more than 40,000 years ago, and to whom I’m at least peripherally related.

Like all other Ancient Connections, it’s unlikely that I descend from Zlatý kůň Woman herself, but she is assuredly my very distant cousin.

What else do we know about Zlatý kůň Woman? Quoting from her Ancient Connection:

She lived during one of the coldest periods of the last ice age, surviving in harsh tundra conditions as part of a small hunter-gatherer group. She died as a young adult, though the cause of death remains unknown.

Her brain cavity was larger than that of modern humans in the comparative database, another trait showing Neanderthal affinity. While the exact colors of her features cannot be determined from available evidence, researchers created both a scientific grayscale model and a speculative version showing her with dark curly hair and brown eyes.

Zlatý kůň Woman may or may not have direct descendants today, but her haplogroup ancestors certainly do, and Radegonde Lambert is one of them, which means Radegonde’s matrilineal ancestors and descendants are too.

Ancient Connections for Genealogy

While Ancient Connections are fun, they are more than just amusing.

You are related through your direct matrilineal (mitochondrial) line to every one of your mtDNA Discover Ancient Connections. Everyone, males and females, can take a mitochondrial DNA test.

I find people to test for the mitochondrial DNA of each of my ancestral lines – like Radegonde Lambert, for example. I wrote about various methodologies to find your lineages, or people to test for them, in the article, Lineages Versus Ancestors – How to Find and Leverage Yours.

Radegonde’s mitochondrial DNA is the only key I have into her past, both recent and distant. It’s the only prayer I have of breaking through that brick wall, now or in the future.

Interpreted correctly, and with some luck, the closer Ancient Connections can provide genealogical insight into the origins of our ancestors. Not just one ancestor, but their entire lineage. While we will never know their names, we can learn about their cultural origins – whether they were Vikings, Phoenicians or perhaps early Irish buried in Passage Graves.

On a different line, an Ancient Connection burial with an exact haplogroup match was discovered beside the Roman road outside the European town where my ancestral line was believed to have been born.

Ancient Connections are one small glimpse into the pre-history of our genetic line. There are many pieces that are missing and will, in time, be filled in by ancient remains, Notable Connections, and present-day testers.

Check your matches and your Ancient Connections often. You never know when that magic piece of information you desperately need will appear.

What is waiting for you?

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FamilyTreeDNA 2023 Update – Past, Present and Future

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At the FamilyTreeDNA International Conference on Genetic Genealogy, held November 3-5 in Houston for group project administrators, product and feature updates were scattered across both days in various presentations.

I’ve combined the updates from FamilyTreeDNA into one article.

I’ve already written two articles that pertain to the conference.

FamilyTreeDNA has already begun rolling the new Y DNA haplogroups from Family Finder autosomal tests, which I wrote about here:

I still have at least two more articles to publish from this conference that was chocked full of wonderful information from a wide range of talented speakers.

Past, Present, and Future with Katy Rowe-Schurwanz

Katy Rowe-Schurwanz, FamilyTreeDNA’s Product Manager, provided an update on what has been accomplished in the four and a half years since the last conference, what’s underway now, and her wish list for 2024.

Please note the word “wish list.” Wish list items are NOT commitments.

Recent Milestones

A lot has been happening at FamilyTreeDNA since the last conference.

Acquisition and Wellness Bundles

As everyone is aware, at the end of 2020, myDNA acquired Gene by Gene, the parent company of FamilyTreeDNA, which included the lab. As a result, the FamilyTreeDNA product menu has expanded, and wellness bundles are now available for FamilyTreeDNA customers.

If you’re interested, you can order the Wellness product in a bundle with a Family Finder test, here.

You can add the Wellness product for $39 if you’ve already tested.

New TIP (Time Prediction) STR Report

Did you notice that the old TIP report for Y DNA STR markers was replaced with an updated version several months ago?

To view the new report, sign on and select your Y DNA matches. At the far right of each match you’ll see these three icons representing a pedigree chart, notes, and the TIP (Time Predictor) report.

The updated TIP report includes wonderful new graphs and age estimates for each match category, which you can read about, here. Each category, such as 67-marker matches, has time estimates in which a common ancestor might have lived at each possible genetic distance.

Math is our friend, and thankfully, someone else has done it for us!

Please note that the Big Y SNP dates are MUCH more accurate for a variety of reasons, not limited to the instability and rapid mutation rate of STR mutations.

MyOrigins3

MyOrigins3, FamilyTreeDNA’s ethnicity offering, added over 60 new reference populations for a total of 90, plus chromosome painting. You can read about MyOrigins features here, and the white paper, here.

This is one of my favorite improvements because it allows me to identify the segment location of my population ancestries, which in turn allows me to identify people who share my minority segments such as Native American and African.

Due to a lack of records, these relationships are often exceedingly difficult to identify, and MyOrigins3 helps immensely.

Additional Releases

Additional products and features released since the last conference include:

Discover

Released in July 2022, Discover is the amazing new free product that details your ancestor’s Y DNA “story” and his walk through time and across the globe.

In the past 18 months, all of the Discover features are new, so I’m only making a brief list here. The great thing is that everyone can use Discover if you know or can discover (pardon the pun) the haplogroup of your ancestral lines. Surname projects are often beneficial for finding your lineages.

  • Haplogroup Story includes haplogroup location, ages derived from the earliest known ancestor (EKA) of your matches, and ancient DNA samples. Please be sure you’ve entered or updated your EKA, and that the information is current. You can find instructions for how to update or add your EKA here.
  • A recent addition to the haplogroup story includes Haplogroup Badges.
  • Country Frequency showing where this haplogroup is found with either a table view or an interactive map
  • Famous and infamous Notable Connections, including Mayflower passengers, Patriots from the American Revolution, US presidents, royal houses, artists, musicians, authors, pirates, sports figures, scientists, and more.

If you know of a proven connection to a notable figure, contact customer support and let them know! Notable connections are added every week.

One famous Discover connection is Ludwig von Beethoven which resulted from a joint academic study between FamilyTreeDNA and academic researchers. It’s quite a story and includes both a mystery and misattributed parentage. You can see if you match on Discover and read about the study, here.

  • Updated Migration Map, including locations of select ancient DNA sites
  • The Time Tree, probably the most popular Discover report, shows the most current version of the Y DNA phylotree, updated weekly, plus scientifically calculated ages for each branch. Tree node locations are determined by your matches and their EKA countries of origin. I wrote about the Time Tree, here.
  • Anticipated in early 2024, the EKA and block tree matches will also be shown on the Time Tree in Discover for individual Big Y testers, meaning they will need to sign in through their kits.
  • The Group Time Tree, visible through group projects, takes the Time Tree a step further by including the names of the EKA of each person on the Time Tree within a specific project. Information is only displayed for project members who have given permission to include their data. You can select specific project groupings to view, or the entire project. I wrote about the Group Time Tree here and here.
  • Globetrekker is an exclusive Big Y mapping feature discussed here, here, here, and here.
  • Ancient Connections includes more than 6,100 ancient Y DNA results from across the globe, which have been individually analyzed and added for matching in Discover. Ancient Connections serve to anchor haplogroups and provide important clues about matches, migration paths and culture. New connections are added weekly or as academic papers with adequate Y DNA coverage are released.
  • Your Ancestral Path, which lists the haplogroups through every step from the tester back to Y Adam and beyond. Additional information for each haplogroup in your path includes “Time Passed” between haplogroups, and “Immediate Descendants,” meaning haplogroups that descend from each subclade. New columns recently added include “Tested Modern Descendants” and “Ancient Connections.”
  • Suggested Projects include surname, haplogroup, and geographic projects. Katy said that people joining projects are more likely to collaborate and upgrade their tests. You can also see which projects other men with this haplogroup have joined, which may well be projects you want to join too.
  • Scientific Details provides additional information, such as each branch’s confidence intervals and equivalent variables (SNPs). You can read more here.
  • Compare Haplogroups is the most recent new feature, added just last month, which allows you to enter any two haplogroups and compare them to determine their most recent common ancestral haplogroup. You can read about Compare Haplogroups, here.

Please note that the Studies feature is coming soon, providing information about studies whose data has been included in Discover.

You can read about Discover here, here, here, and here.

If you’re interested, FamilyTreeDNA has released a one-minute introduction to Y DNA and Discover that would interest new testers, here.

Earliest Known Ancestor (EKA) Improvement

Another improvement is that the earliest known ancestor is MUCH easier to enter now, and the process has been simplified. The EKAs are critical for Discover, so PLEASE be sure you’ve entered and updated your EKA.

Under the dropdown beside your name in the upper right-hand corner of your personal page, select Account Settings, then Genealogy and Earliest Known Ancestors. Complete the information, then click on “Update Location” to find or enter the location on a map to record the coordinates.

It’s easy. Just type or drop a pin and “Save.”

Saving will take you back to the original EKA page. Save that page, too.

Recommended Projects on Haplogroups & SNPs Page

You’re probably aware that Discover suggests projects for Y DNA testers to join, but recommended haplogroup projects are available on each tester’s pages, under the Y DNA Haplotree & SNPs page, in the Y DNA STR results section.

If there isn’t a project for your immediate haplogroup, just scroll up to find the closest upstream project. You can also view this page by Variants, Surnames and Countries.

This is a super easy tool to use to view which surnames are clustered with and upstream of your haplogroup. With Family Finder haplogroups being assigned now, I check my upstream haplogroups almost daily to see what has been added.

For example, my Big Y Estes results are ten branches below R-DF49, but several men, including Estes testers, have been assigned at this level, thanks to Y DNA haplogroups from Family Finder testing. I can now look for these haplogroups in the STR and Family Finder matches lists and see if those men are receptive to Big Y testing.

Abandoned Projects

Sometimes group project administrators can no longer function in that capacity, resulting in the project becoming abandoned. FamilyTreeDNA has implemented a feature to help remedy that situation.

If you discover an abandoned project, you can adopt the project, spruce things up, and select the new project settings. Furthermore, administrators can choose to display this message to recruit co-administrators. I need to do this for several projects where I have no co-admin.

If you are looking for help with your project, you can choose to display the button
through the Project Profile page in GAP. For non-project administrators, if you’d like to help, please email the current project administrators.

New Kit Manager Feature

FamilyTreeDNA has added a “Kit Manager” feature so that an individual can designate another person as the manager of their kit.

This new setting provides an avenue for you to designate someone else as the manager of your DNA test. This alerts FamilyTreeDNA that they can share information with both of you – essentially treating your designated kit manager the same as you.

If you’re the kit manager for someone else, you NEED to be sure this is completed. If that person is unavailable for some reason, and support needs to verify that you have legitimate access to this kit, this form and the Beneficiary form are the ONLY ways they can do that.

If your family member has simply given you their kit number and password, and for some reason, a password reset is required, and their email address is the primary contact – you may be shut out of this kit if you don’t complete this form.

Beneficiary Page

Additionally, everyone needs to be sure to complete the Beneficiary page so that in the event of your demise, FamilyTreeDNA knows who you’ve designated to access and manage your DNA account in perpetuity. If you’ve inherited a kit, you need to add a beneficiary to take over in the event of your death as well.

What is FamilyTreeDNA working on now?

Currently in the Works

Katy moved on to what’s currently underway.

Privacy and Security

Clearly, the unauthorized customer data exposure breach at 23andMe has reverberated through the entire online community, not just genetic genealogy. You can read about the incident here, here, here, and here.

FamilyTreeDNA has already taken several steps, and others are in development and will be released shortly.

Clearly, in this fast-moving situation, everything is subject to change.

Here’s what has happened and is currently planned as of today:

  • Group Project Administrators will be required to reset their password soon.

Why is this necessary?

Unauthorized access was gained to 23andMe accounts by people using the same password for multiple accounts, combined with their email as their user ID. Many people use the same password for every account so that they can remember it. That means that all a hacker needs to do is breach one account, and they can use that same information to “legitimately” sign in to other accounts. There is no way for the vendor to recognize this as unauthorized since they have both your user ID and password.

That’s exactly what happened at 23andMe. In other breaches, this information was exposed, and hackers simply tried the same username and password combination at 23andMe, exposing the entire account of the person whose account they signed in “as.” This includes all of their matches, genetic tree, shared matches, matches of matches, ethnicity, and segments. They could also have downloaded both the match list and the raw DNA file of the compromised account.

At FamilyTreeDNA, project administrators can select their own username, which could be their email, so they will be required to reset their password.

Additional precautions have been put in place on an interim basis:

  • A pause in the ability to download match and segment information.
  • A pause in accepting 23andMe uploads.

Administrators will also be required to use two-factor authentication (2FA.) To date, two of the four major vendors are requiring 2FA. I would not be surprised to see it more broadly. Facebook recently required me to implement 2FA there, too, due to the “reach” of my postings, but 2FA is not required of everyone on Facebook.

Please note that if you received an email or message that is supposedly from any vendor requiring 2FA, GO DIRECTLY TO THAT VENDOR SITE AND SIGN IN.  Never click on a link in an email you weren’t expecting. Bad actors exploit everything.

Customers who are not signing in as administrators are not required to implement 2FA, nor will they be required to reset their password.

Personally, I will implement 2FA as soon as it’s available.

While 2FA is an extra step, it’s easy to get used to, and it has already literally saved one of my friends from an authorized hack on their primary and backup email accounts this week. Another friend just lost their entire account on Facebook because someone signed in as them. Their account was gone within 15 minutes.

2FA is one of those things you don’t appreciate (at all) until it saves you, and then, suddenly, you’re incredibly grateful.

At this point in time, FamilyTreeDNA users will NOT be required to do a password reset or implement 2FA. This is because customers use a kit number for sign-in and not a username or email address. I would strongly recommend changing your password to something “not easy.” Never reuse passwords between accounts.

I really, really want you to visit this link at TechRepublic and scroll down to Figure A, which shows how long it takes a hacker to crack your password. I guarantee you, it’s MUCH quicker than you’d ever expect.

Kim Komando wrote about this topic two years ago, so compare the two charts to see how much easier this has become in just two years.

Again, if you receive an email about resetting your password, don’t click on a link. Sign in independently to the vendor’s system, but DO reset your password.

FamilyTreeDNA also engages in additional security efforts, such as ongoing penetration testing.

New Permissions

Additionally, at FamilyTreeDNA, changes were already in the works to separate out at least two permissions that testers can opt-in to without granting project administrators Advanced rights.

  • Download data
  • Purchase tests

The ability to purchase tests can be very important because it allows administrators to order and pay for tests or upgrades on behalf of this tester anytime in the future.

Family Finder Haplogroups

FamilyTreeDNA has already begun releasing mid-level Y DNA haplogroups for autosomal testers in a staggered rollout of several thousand a day.

I wrote about this in the article, FamilyTreeDNA Provides Y DNA Haplogroups from Family Finder Autosomal Tests, so I’m not repeating all of that information here – just highlights.

  • The Family Finder haplogroup rollout is being staggered and began with customers on the most recent version of the testing chip, which was implemented in March of 2019.
  • Last will be transfers/uploads from third parties.
  • Haplogroups resulting from tests performed in the FTDNA labs will be visible to matches and within projects. They will also be used in both Discover and the haplotree statistics. This includes Family Finder plus MyHeritage and Vitagene uploads.
  • Both MyHeritage and Vitagene are uploaded or “transferred” via an intracompany secure link, meaning FamilyTreeDNA knows that their information is credible and has not been manipulated.
  • Haplogroups derived from tests performed elsewhere will only be visible to the user or a group administrator viewing a kit within a project. They will not be visible to matches or used in trees or for statistics.
  • Any man who has taken a Y DNA STR test will receive a SNP-confirmed, updated haplogroup from their Family Finder test that replaces their predicted haplogroup from the STR test.

Please read this article for more information.

New Discover Tools and Updates

Discover content continues to be updated, and new features are added regularly, creating an increasingly robust user experience.

Soon, group administrators will be able to view all Discover features (like Globetrekker) when viewing kits of project members who have granted an appropriate level of access.

Ancient and Notable connects are added weekly, and a new feature, Study Connections, will be added shortly.

Study Connections is a feature requested by customers that will show you which study your academic matches came from. Today, those results are used in the Y DNA tree, but the source is not detailed.

Anticipated in early 2024, the EKA and block tree matches will also be shown on the Time Tree in Discover for individual Big Y testers (not publicly).

Big Y FaceBook Group

FamilyTreeDNA has ramped up its social media presence. They launched the Big Y Facebook group in July 2023, here, which currently has just under 9000 members. Several project administrators have volunteered their time to help manage the group.

FamilyTreeDNA Blog

In addition, FamilyTreeDNA is publishing at least one blog article each week, and sometimes more. You can view or subscribe here. Some articles are written by FamilyTreeDNA staff, but project administrators and customers author other content.

Multi-Language Support

Translation of the main FamilyTreeDNA website and results pages to Spanish has begun, with more languages planned soon.

Paypal, Payments, and Gift Cards

Paypal has been added as a payment selection, along with a PayPal option that provides the ability to make payments.

Additionally, a gift card can be purchased from the main page.

Million Mito Project & Mitotree

Work on the Million Mito Project is ongoing.

The Million Mito Project was launched in 2020 as a collaborative effort between FamilyTreeDNA’s Research & Development Team and the scientific portion of the Genographic Project. I’m a team member and wrote about the Million Mito Project, here.

We’re picking up from where the Phylotree left off in 2016, analyzing 20 times more mtDNA full sequences and reimagining the mtDNA Haplotree. By examining more mtDNA data and applying the processes that allowed FamilyTreeDNA to build the world’s largest Y DNA Haplotree, we can also create the world’s largest Mitotree.

In 2022, the first update was released, authored by the Million Mito team, with the discovery of haplogroup L7. You can read about this amazing discovery rooted deep in the tree here, here, and here. (Full disclosure: I’m a co-author.)

Not only that, but “Nature Scientific Reports” selected this article as one of five named Editor’s Choice in the Mitogenomics category, here. In the science world, that’s a HUGE deal – like the genetic Emmy.

Here’s one example of the type of improvements that can be expected. Currently, the formation of haplogroup U5a2b2a reaches back to about 5000 years ago, but after reanalysis, current branches originated between 500 and 2,500 years ago, and testers are clustered more closely together.

This is SOOO exciting!!!

Just as Discover for Y DNA results was built one feature at a time, the same will be true for MitoDiscover. That’s my name, not theirs.

As the new Mitotree is rolled out, the user interface will also be updated, and matching will function somewhat differently. Specifically, it’s expected that many more haplogroups will be named, so today’s matching that requires an exact haplogroup match to be a full sequence match will no longer work. That and other matching adjustments will need to be made.

I can hardly wait. I have so many results I need to be able to view in a tree format and to place in a timeframe.

You can be included in this exciting project, learn more about your matrilineal (mother’s) line, and hopefully break down some of those brick walls by taking the full sequence mitochondrial DNA test, here.

After the new Mitotree is rolled out and the Y DNA Family Finder haplogroups are completed, Family Finder customers, where possible, will also receive at least a basic-level mitochondrial haplogroup. Not all upload files from other vendors include mtDNA SNPs in their autosomal files. The mitochondrial Family Finder haplogroup feature isn’t expected until sometime in 2025, after the new tree and MitoDiscover are complete.

The Future

What’s coming later in 2024, or is ongoing?

Privacy Laws

Most people aren’t aware of the new privacy laws in various states, each of which has to be evaluated and complied with.

The effects of these changes will be felt in various areas as they are implemented.

New Kits Opted Out of IGG

Since late August, all new FTDNA kits are automatically opted OUT of Investigative Genetic Genealogy (IGG) by default.

Regular matching consent and IGG matching consent have been separated during onboarding.

Biobanking Separate Consent

Another consent change is to have your sample biobanked. FamilyTreeDNA has always maintained your sample for “roughly 25 years.” You could always ask to have your sample destroyed, but going forward, you will be asked initially if you want your sample to be retained (biobanked.) It’s still free.

Remember, if someone declines the biobanking option, their DNA will be disposed of after testing. They can’t order upgrades without submitting a new sample. Neither can their family after they’re gone. I ordered my mother’s Family Finder test many years after she had gone on to meet our ancestors – and I’m incredibly grateful every single day.

MyHeritage Tree Integration

An exciting change coming next year is tree integration with MyHeritage.

And no, before any rumors get started, FAMILYTREEDNA IS NOT MERGING WITH MYHERITAGE. It’s a beneficial marriage of convenience for both parties.

In essence, one of the primary focuses of MyHeritage is trees, and they do that very well. FamilyTreeDNA is focused on DNA testing and their existing trees have had issues for years. MyHeritage trees are excellent, support pedigree collapse, provide search capabilities that are NOT case sensitive, SmartMatching, and much more.

If you don’t have a MyHeritage account, creating one is free, and you will be able to either port your existing FamilyTreeDNA tree, or begin one there. If you’re already a MyHeritage member, FamilyTreeDNA and MyHeritage are planning together for a smooth integration for you. More detailed information will be forthcoming as the integration progressed and is released to customers.

You’ll be able to connect multiple kits to your tree at MyHeritage, just like you can at FamilyTreeDNA today, which enables family matching, aka bucketing.

You can also have an unlimited number of different trees at MyHeritage on the same account. You’re not limited to one.

After you link your initial FamilyTreeDNA kit to the proper person in your MyHeritage tree, you’ll be able to relink any currently linked kits.

MyHeritage will NOT receive any DNA information or match information from FamilyTreeDNA, and yes, you’ll be able to use the same tree independently at MyHeritage for their DNA matching.

You’ll still be able to view your matches’ trees, except it will actually be the MyHeritage tree that will be opened at FamilyTreeDNA in a new tab.

To the best of my knowledge, this is a win-win-win, and customers of both companies aren’t losing anything.

One concern is that some FamilyTreeDNA testers have passed away and cannot transition their tree, so a view-only copy of their tree will remain at FamilyTreeDNA so that their matches can still see their tree.

Big Y Infrastructure

Katy mentioned that internal discussions are taking place to see what changes could be made to improve things like matching and test processing times.

No changes are planned for SNP or STR coverage, but discussions are taking place about a potential update to the Telomere to Telomere (T2T) reference. No promises about if or when this might occur. The last part of the human genome to be fully sequenced, the T2T reference model includes the notoriously messy and unreliable region of the Y chromosome with many repeats, duplications, gaps, and deletions. Some data from this region is probably salvageable but has previously been omitted due to the inherent problems.

I’m not sure this shouldn’t be in the next section, the Wishlist.

Wishlist

There are lots of good things on the Wishlist – all of which I’d love.

I’d have difficulty prioritizing, but I’d really appreciate some Family Finder features in addition to the items already discussed. I’d also like to see some GAP (administrator) tool updates.

Which items do you want to see most?

Katy said that FamilyTreeDNA is NOT planning to offer a Whole Genome Sequencing (WGS) test anytime soon. So, if you’re holding your breath, please don’t. Based on what Katy did say, WGS is very clearly not a consideration in 2024 and I don’t expect to see it in 2025 either unless something changes drastically in terms of technology AND pricing.

While WGS prices have come down, those consumer tests are NOT scanned at the depth and quality required for advanced tests like the Big Y or even Family Finder. Normally consumer-grade WGS tests are scanned between 2 and 10 times, where the FamilyTreeDNA lab scans up to 30 times in order to obtain a quality read. 30X scans are in the same category as medical or clinical grade whole genome scans. Significantly higher quality scans mean significantly higher prices, too, so WGS isn’t ready for genealogy prime time yet.

Additionally, commercially available WGS tests are returned to the customer “as is,” and you’re left to extract the relevant SNPs and arrange them into files, or find someone else to do that. Not to mention, in order to preserve the integrity of their database, FamilyTreeDNA does not accept Y or mitochondrial DNA uploads.

Recently, I saw two WGS files with a 20-25% no-call rate for the autosomal SNPs required for the Family Finder test. Needless to say, that’s completely unacceptable. Some tools attempt to “fix” that mess by filling in the blanks in the format of either a 23andMe or Ancestry file so you can upload to vendors, but that means you’re receiving VERY unreliable matches.

The reason none of the major four vendors offer WGS testing for genealogists is because it’s not financially feasible nor technologically beneficial. The raw data file alone won’t fit on most home computers. WGS is just not soup yet, and it won’t be for the general consuming public, including relevant tools, for at least a few years.

I’ve had my whole genome sequenced, and trust me, I wish it were feasible now, but it just isn’t.

Suggestions Welcomed

Katy said that if you have suggestions for items NOT on the wishlist today to contact her through support.

I would add that if you wish to emphasize any specific feature or need above others, please send that feedback, politely, to support as well.

Katy ended by thanking the various teams and individuals whose joint efforts together produce the products we use and enjoy today.

Lab Update

Normally, DNA testing companies don’t provide lab updates, but this conference is focused on group project administrators, who are often the most dedicated to DNA testing.

A lab update has become a tradition over the years.

Linda Jones, Lab Manager, provided a lab update.

You may or may not know that the FamilyTreeDNA lab shifted gears and stepped up to handle Covid testing.

Supply-chain shortages interfered, but the lab ran 24×7 between 2020 and 2022.

Today, the lab continues to make improvements to processes with the goal of delivering the highest quality results in a timely manner.

On Monday, after the conference, attendees could sign up for a lab tour. You might say we are a rather geeky bunch and really enjoy the science behind the scenes.

Q&A and Thank You

At the end of the conference, the FamilyTreeDNA management team answered questions from attendees.

Left to right, Daniel Au, CTO; Linda Jones, Lab Manager; Katy Rowe-Schurwanz, Product Manager; Clayton Conder, VP Marketing; Goran Runfeldt, Head of R&D; and Andrew Gefre, Development Manager. Not pictured, Jeremy Balkin, Support Manager; Kelly Jenkins, VP of Operations; and Janine Cloud, Group Projects Manager. Janine is also responsible for conferences and events, without whom there would have been no 2023 FamilyTreeDNA conference. Janine, I can’t thank you enough!

A huge thanks to all of these people and many others, including the presenters, CSRs,  IT, and other FamilyTreeDNA team members for their support during the conference, enabling us to enjoy the conference and replenish the well of knowledge.

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Genealogy Research

The Origins of Zana of Abkhazia

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Recently, Margaryan et al published a paper titled The genomic origin of Zana of Abkhazia.

Margaryan was the lead author on the 2020 paper, the Population genomics of the Viking world. I wrote about that in the article, 442 Ancient Viking Skeletons Hold DNA Surprises – Does Your Y or Mitochondrial DNA Match?

Why are people interested in the origins of Zana? Who was Zana?

Zana

Zana was initially believed to have been a member of a group of Afro-Abkhazian people who lived in the Caucasus in the later 1800s.

Known as the African Caucasians, the Abkhazians of African descent lived in and near the settlement of Adzyubzha on the east coast of the Black Sea.

By Unknown author – livejournal.com, Public Domain, https://commons.wikimedia.org/w/index.php?curid=8701583

This photo of an Afro-Abkhazian family is from “Caucasus. Volume I. The peoples of the Caucasus”, St. Petersburg., Kovalevsky P. I., 1914.

It’s uncertain how this group of African people came to live in this region, but they seem to have arrived when the region was under the rule of the Ottoman Empire in the 1600s, possibly as slaves to work the citrus plantations. In 1927, two Russian men visited the village and met elderly Africans. The Russian men felt that an Ethiopian version of their arrival story was likely accurate since there were several parallels between the names of the villages in Ethiopia and the Afro-Abkhazian villages.

By the 1800s, they spoke only the northwest Caucasian Abkhaz language.

The origins of Zana herself are cloaked in myth. One thing is for certain. Zana was exploited horribly.

How much of the story of Zana’s origins is accurate, and how much was concocted to justify her subsequent treatment is unknown.

The Story

Zana was reportedly living wild and naked in the forest in the Caucasus region. These mountains had long been rumored to hold creatures similar to Bigfoot, called Almasty in Russia.

The story goes that a traveling noble merchant, possibly Edgi Genaba, heard about an apewoman living in the forest and paid the local men to capture this poor creature sometime between 1850 and 1870. The locals forced her into a spike-lined pit.

The nobleman paid the men, named his captive Zana, shackled her, took her home, and enclosed Zana in a cage where she dug a hole in which to sleep. A slightly different version of the story says that Zana was sold from man to man until Genaba bought her.

Zana was apparently covered in thick red hair, powerfully muscular and at 6 feet 6 inches in height, towering over the local residents. When given clothes, she reportedly would shred them.

Genaba charged people who would come and gawk at the naked caged “apewoman” who could not or did not speak.

Zana did not try to escape and eventually, she was granted some reprieve by “only” being chained to a fence.

Eventually, Zana was taught to do chores and in essence, became a servant. She was also provided with alcohol. The local men repeatedly raped Zana while she was drunk.

Zana reportedly had a total of 6 children by unknown local men, although only four can be relatively assured and two proven. Zana apparently took the first two babies to a river to wash them, but the children died. After that, the local women took the following four children away from Zana to protect them since she apparently didn’t understand how to care for an infant.

None of Zana’s children had her thick hair. They all spoke normally and had families. Pictures remain of two of her children, a daughter, Kodzhanar and a son, Khwit. You can see photos of Kodzhanar, Khwit and Khwit’s children, here, in a supplement to the paper.

Zana died after living in captivity for about 20 years, having been taken advantage of, first by Genaba and eventually, by the village men as well.

But Zana’s exploitation didn’t even end there.

Dr. Bryan Sykes, once a respected geneticist, in his later years, became a Bigfoot hunter. After analyzing DNA evidence from Zana’s granddaughter and relatives, along with the remains of her son, Sykes suggested that Zana belonged to a “sub-species of modern humans,” and called her “half human and half ape,” according to a Daily Mail article published in April of 2015. Sykes published a book in 2015, whose title I refuse to print, in which he suggests that Zana’s ancestors exited Africa 100,000 years before and she and her ancestors had, in essence, become a Caucuses Bigfoot – or Almasty in the local vernacular. However, Sykes also states that Zana was 100% African, had genes from west Africa, yet resembled no west African group of people. If you’re scratching your head saying to yourself that those things are contradictory – you’d be right.

Thankfully, Margaryan has now published a respectful academic paper about Zana.

The genomic origin of Zana of Abkhazia

Margaryan paper abstract:

Enigmatic phenomena have sparked the imagination of people around the globe into creating folkloric creatures. One prime example is Zana of Abkhazia (South Caucasus), a well-documented 19th-century female who was captured living wild in the forest. Zana’s appearance was sufficiently unusual, that she was referred to by locals as an Almasty—the analog of Bigfoot in the Caucasus. Although the exact location of Zana’s burial site was unknown, the grave of her son, Khwit, was identified in 1971. The genomes of Khwit and the alleged Zana skeleton were sequenced to an average depth of ca. 3× using ancient DNA techniques. The identical mtDNA and parent-offspring relationship between the two indicated that the unknown woman was indeed Zana. Population genomic analyses demonstrated that Zana’s immediate genetic ancestry can likely be traced to present-day East-African populations. We speculate that Zana might have had a genetic disorder such as congenital generalized hypertrichosis which could partially explain her strange behavior, lack of speech, and long body hair. Our findings elucidate Zana’s unfortunate story and provide a clear example of how prejudices of the time led to notions of cryptic hominids that are still held and transmitted by some today.

Hypertrichosis

Hypertrichosis, also known as “werewolf syndrome” is an extremely rare condition in which an abnormal amount of hair grows on the body. While this condition can develop later in life, it can also be congenital, or present at birth.

In some cases, hair grows all over the body, but in others, only grows in some places.

While Zana’s hair growth suggests hypertrichosis, Zana may have had other challenges as well given that she was nonverbal.

In medieval times, people who suffered from hypertrichosis often lived in courts and functioned as entertainers. In the 19th and 20th centuries, you could find them as performers in circuses and sideshows.

Congenital hypertrichosis, present from birth, can be inherited.

Petrus Gonsalvus, born in 1537 and referred to as “the man of the woods” spent his life in royal courts in Italy and France. He had seven children, four of whom apparently inherited the mutation for this condition from Petrus.

Petrus and his children with excessive hair, two of whom are shown above, were not considered fully human, although their court life allowed them to be well documented.

Petrus married Lady Catherine and their story may have been at least a part of the inspiration for the fairy tale, Beauty and the Beast, published in 1740, 122 years after Petrus’s death.

Zana’s Son, Khwit’s Y DNA

Due to Zana’s circumstances, we have no idea who Khwit’s father was. Khwit and the father himself may have not known either, given how Zana was treated by the local men who raped her. Furthermore, Zana’s children were taken from her and she was non-verbal, so even if she did know, she couldn’t have told her children.

Khwit’s Y DNA provides tantalizing clues.

FamilyTreeDNA’s analysis of Zana’s son, Khwit’s Y chromosome places him in the R-Z2103 subclade of R1b associated with the Yamnaya culture, and more specifically on branch R-Y4364 which has its highest frequency in the Caucasus.

You can see that the flags beside the subgroups above R-FTA50400 are all represented in the Caucasus region; Armenia, Russian Federation, Turkey, and the Palestinian Territory. They also reach into the surrounding areas: Italy, Poland, Greece, Germany, and then beneath Khwit’s branch, we find Scotland represented by subclade R-FTA49702. Khwit and the man from Scotland share 14 variants that branch subclade R-FTA50400 from R-FGCLR459.

Scotland? Well, that’s unexpected.

Looking at the block tree, below, you can see that while the two men are related back in time, it’s distant and they are separated by many private variants.

How long ago did the common ancestor of Khwit and the Scotsman live?

Goran Runfeldt, Head of Research and Development at FamilyTreeDNA, indicated that an early estimate would be that the common ancestor of Khwit’s father and the tester from Scotland would have lived in the Caucasus about 2200 years ago.

He stated that additional Big Y-700 testing is underway and a more definitive MRCA date may be able to be established.

Zana’s Mitochondrial DNA

Of course, Zana’s children all carried her mitochondrial DNA. Her daughters passed Zana’s mitochondrial DNA on to their children as well.

Fortunately, Zana’s mitochondrial DNA helps reassemble the pieces of Zana’s history.

I reached out to Dr. Miguel Vilar, a member of the Million Mito team member in the hope of revealing more of Zana’s puzzle. Dr. Villar is a molecular anthropologist at UMD and former lead scientist for the Genographic Project.

Dr. Vilar offered:

The DNA data and old stories together paint a very sad picture for the historical figure of Zana. The PCA plot of the autosomal DNA suggests she was genetically related to the Dinka pastoralist people from South Sudan, a marginalized group known to be above average in height and body size. Further, Zana’s mtDNA results place her on a basal branch of L2b1b, which geographically would align with an East Central African origin.

The combination of Zana’s height, body size, hair, and (apparent) inability to speak certainly advanced or at least fostered the story of Zana not being human.

Unfortunately, these combined features seemed to justify the non-human treatment of Zana by the local residents, particularly the men.

Contemporary DNA analysis proves Zana was fully human with African origins. She was not admixed with non-African DNA. How she or her family came to the Caucasus, or when, is unknown, but it likely has to do with the Ottoman Empire slave trade that began in the 16th century. The legend of Zana has probably grown and changed with time and retelling.

Ethics

Clearly, Zana’s original situation and later exploitation have been an ethical quagmire.

The authors of the Zana paper perhaps sum this up best:

Following her capture in the forest, Zana was deprived of her basic human rights, and treated as a slave: she was kept in captivity, likely forced to have sexual relations with local men, and worked in forced labor conditions. After she passed away, the accounts on her mythical figure attracted several scientists to unearth her story and her son’s bones were exhumed. Our study intends both to reveal the true human nature of Zana and grant her and her descendants’ remains the dignity they deserve.

Zana’s story isn’t over. Additional testing and analysis are being performed. Based on those findings, if any, we may be able to add another chapter to Zana’s story.

Zana, like everyone else, deserves the truth, even if unraveled and told posthumously. We can’t right the historical wrongs today, but at least we can correct the record.

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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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Books

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Y DNA Resources and Repository

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I’ve created a Y DNA resource page with the information in this article, here, as a permanent location where you can find Y DNA information in one place – including:

  • Step-by-step guides about how to utilize Y DNA for your genealogy
  • Educational articles and links to the latest webinars
  • Articles about the science behind Y DNA
  • Ancient DNA
  • Success stories

Please feel free to share this resource or any of the links to individual articles with friends, genealogy groups, or on social media.

If you haven’t already taken a Y DNA test, and you’re a male (only males have a Y chromosome,) you can order one here. If you also purchase the Family Finder, autosomal test, those results can be used to search together.

What is Y DNA?

Y DNA is passed directly from fathers to their sons, as illustrated by the blue arrow, above. Daughters do not inherit the Y chromosome. The Y chromosome is what makes males, male.

Every son receives a Y chromosome from his father, who received it from his father, and so forth, on up the direct patrilineal line.

Comparatively, mitochondrial DNA, the pink arrow, is received by both sexes of children from the mother through the direct matrilineal line.

Autosomal DNA, the green arrow, is a combination of randomly inherited DNA from many ancestors that is inherited by both sexes of children from both parents. This article explains a bit more.

Y DNA has Unique Properties

The Y chromosome is never admixed with DNA from the mother, so the Y chromosome that the son receives is identical to the father’s Y chromosome except for occasional minor mutations that take place every few generations.

This lack of mixture with the mother’s DNA plus the occasional mutation is what makes the Y chromosome similar enough to match against other men from the same ancestors for hundreds or thousands of years back in time, and different enough to be useful for genealogy. The mutations can be tracked within extended families.

In western cultures, the Y chromosome path of inheritance is usually the same as the surname, which means that the Y chromosome is uniquely positioned to identify the direct biological patrilineal lineage of males.

Two different types of Y DNA tests can be ordered that work together to refine Y DNA results and connect testers to other men with common ancestors.

FamilyTreeDNA provides STR tests with their 37, 67 and 111 marker test panels, and comprehensive STR plus SNP testing with their Big Y-700 test.

click to enlarge

STR markers are used for genealogy matching, while SNP markers work with STR markers to refine genealogy further, plus provide a detailed haplogroup.

Think of a haplogroup as a genetic clan that tells you which genetic family group you belong to – both today and historically, before the advent of surnames.

This article, What is a Haplogroup? explains the basic concept of how haplogroups are determined.

In addition to the Y DNA test itself, Family Tree DNA provides matching to other testers in their database plus a group of comprehensive tools, shown on the dashboard above, to help testers utilize their results to their fullest potential.

You can order or upgrade a Y DNA test, here. If you also purchase the Family Finder, autosomal test, those results can be used to search together.

Step-by-Step – Using Your Y DNA Results

Let’s take a look at all of the features, functions, and tools that are available on your FamilyTreeDNA personal page.

What do those words mean? Here you go!

Come along while I step through evaluating Big Y test results.

Big Y Testing and Results

Why would you want to take a Big Y test and how can it help you?

While the Big Y-500 has been superseded by the Big Y-700 test today, you will still be interested in some of the underlying technology. STR matching still works the same way.

The Big Y-500 provided more than 500 STR markers and the Big Y-700 provides more than 700 – both significantly more than the 111 panel. The only way to receive these additional markers is by purchasing the Big Y test.

I have to tell you – I was skeptical when the Big Y-700 was introduced as the next step above the Big Y-500. I almost didn’t upgrade any kits – but I’m so very glad that I did. I’m not skeptical anymore.

This Y DNA tree rocks. A new visual format with your matches listed on their branches. Take a look!

Educational Articles

I’ve been writing about DNA for years and have selected several articles that you may find useful.

What kinds of information are available if you take a Y DNA test, and how can you use it for genealogy?

What if your father isn’t available to take a DNA test? How can you determine who else to test that will reveal your father’s Y DNA information?

Family Tree DNA shows the difference in the number of mutations between two men as “genetic distance.” Learn what that means and how it’s figured in this article.

Of course, there were changes right after I published the original Genetic Distance article. The only guarantees in life are death, taxes, and that something will change immediately after you publish.

Sometimes when we take DNA tests, or others do, we discover the unexpected. That’s always a possibility. Here’s the story of my brother who wasn’t my biological brother. If you’d like to read more about Dave’s story, type “Dear Dave” into the search box on my blog. Read the articles in publication order, and not without a box of Kleenex.

Often, what surprise matches mean is that you need to dig further.

The words paternal and patrilineal aren’t the same thing. Paternal refers to the paternal half of your family, where patrilineal is the direct father to father line.

Just because you don’t have any surname matches doesn’t necessarily mean it’s because of what you’re thinking.

Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) aren’t the same thing and are used differently in genealogy.

Piecing together your ancestor’s Y DNA from descendants.

Haplogroups are something like our pedigree charts.

What does it mean when you have a zero for a marker value?

There’s more than one way to break down that brick wall. Here’s how I figured out which of 4 sons was my ancestor.

Just because you match the right line autosomally doesn’t mean it’s because you descend from the male child you think is your ancestor. Females gave their surnames to children born outside of a legal marriage which can lead to massive confusion. This is absolutely why you need to test the Y DNA of every single ancestral line.

When the direct patrilineal line isn’t the line you’re expecting.

You can now tell by looking at the flags on the haplotree where other people’s ancestral lines on your branch are from. This is especially useful if you’ve taken the Big Y test and can tell you if you’re hunting in the right location.

If you’re just now testing or tested in 2018 or after, you don’t need to read this article unless you’re interested in the improvements to the Big Y test over the years.

2019 was a banner year for discovery. 2020 was even more so, keeping up an amazing pace. I need to write a 2020 update article.

What is a terminal SNP? Hint – it’s not fatal😊

How the TIP calculator works and how to best interpret the results. Note that this tool is due for an update that incorporates more markers and SNP results too.

You can view the location of the Y DNA and mitochondrial DNA ancestors of people whose ethnicity you match.

Tools and Techniques

This free public tree is amazing, showing locations of each haplogroup and totals by haplogroup and country, including downstream branches.

Need to search for and find Y DNA candidates when you don’t know anyone from that line? Here’s how.

Yes, it’s still possible to resolve this issue using autosomal DNA. Non-matching Y DNA isn’t the end of the road, just a fork.

Science Meets Genealogy – Including Ancient DNA

Haplogroup C was an unexpected find in the Americas and reaches into South America.

Haplogroup C is found in several North American tribes.

Haplogroup C is found as far east as Nova Scotia.

Test by test, we made progress.

New testers, new branches. The research continues.

The discovery of haplogroup A00 was truly amazing when it occurred – the base of the phylotree in Africa.

The press release about the discovery of haplogroup A00.

In 2018, a living branch of A00 was discovered in Africa, and in 2020, an ancient DNA branch.

Did you know that haplogroups weren’t always known by their SNP names?

This brought the total of SNPs discovered by Family Tree DNA in mid-2018 to 153,000. I should contact the Research Center to see how many they have named at the end of 2020.

An academic paper split ancient haplogroup D, but then the phylogenetic research team at FamilyTreeDNA split it twice more! This might not sound exciting until you realize this redefines what we know about early man, in Africa and as he emerged from Africa.

Ancient DNA splits haplogroup P after analyzing the remains of two Jehai people from West Malaysia.

For years I doubted Kennewick Man’s DNA would ever be sequenced, but it finally was. Kennewick Man’s mitochondrial DNA haplogroup is X2a and his Y DNA was confirmed to Q-M3 in 2015.

Compare your own DNA to Vikings!

Twenty-seven Icelandic Viking skeletons tell a very interesting story.

Irish ancestors? Check your DNA and see if you match.

Ancestors from Hungary or Italy? Take a look. These remains have matches to people in various places throughout Europe.

The Y DNA story is no place near finished. Dr. Miguel Vilar, former Lead Scientist for National Geographic’s Genographic Project provides additional analysis and adds a theory.

Webinars

Y DNA Webinar at Legacy Family Tree Webinars – a 90-minute webinar for those who prefer watching to learn! It’s not free, but you can subscribe here.

Success Stories and Genealogy Discoveries

Almost everyone has their own Y DNA story of discovery. Because the Y DNA follows the surname line, Y DNA testing often helps push those lines back a generation, or two, or four. When STR markers fail to be enough, we can turn to the Big Y-700 test which provides SNP markers down to the very tip of the leaves in the Y DNA tree. Often, but not always, family-defining SNP branches will occur which are much more stable and reliable than STR mutations – although SNPs and STRs should be used together.

Methodologies to find ancestral lines to test, or maybe descendants who have already tested.

DNA testing reveals an unexpected mystery several hundred years old.

When I write each of my “52 Ancestor” stories, I include genetic information, for the ancestor and their descendants, when I can. Jacob was special because, in addition to being able to identify his autosomal DNA, his Y DNA matches the ancient DNA of the Yamnaya people. You can read about his Y DNA story in Jakob Lenz (1748-1821), Vinedresser.

Please feel free to add your success stories in the comments.

What About You?

You never know what you’re going to discover when you test your Y DNA. If you’re a female, you’ll need to find a male that descends from the line you want to test via all males to take the Y DNA test on your behalf. Of course, if you want to test your father’s line, your father, or a brother through that father, or your uncle, your father’s brother, would be good candidates.

What will you be able to discover? Who will the earliest known ancestor with that same surname be among your matches? Will you be able to break down a long-standing brick wall? You’ll never know if you don’t test.

You can click here to upgrade an existing test or order a Y DNA test.

Share the Love

You can always forward these articles to friends or share by posting links on social media. Who do you know that might be interested?

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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

Genealogy Research

Books

Genographic Project Participants: Last Chance to Preserve Your Results & Advance Science – Deadline June 30th

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If you’re one of the one million+ public participants in the National Geographic Society’s Genographic Project, launched in 2005, you probably already know that testing has ceased and the website will be discontinued as of June 30th. Your results will no longer be available as of that date.

I wrote about the closing here and you can read what the Genographic project has to say about closing the public participation part of the project, here.

However, this doesn’t have to be the end of the DNA story.

You have great options for yourself and to continue the science. Your results can still be useful, however…

You MUST act before June 30th.

Please note that if you control the DNA of a deceased person who did not test elsewhere, this is literally your last chance to obtain any DNA results for them. If you transfer their DNA, you can upgrade and purchase additional tests at Family Tree DNA. If you don’t transfer, the opportunity to retrieve their DNA will be gone forever.

Three Steps + a Bonus

  1. Preserve Your Results – Sign in to the Genographic site and take screenshots, print, or download any data you wish to keep.
  2. Contribute to Science – Authorize the Genographic Project to utilize your results for ongoing scientific research, including The Million Mito Project
  3. Transfer Your Results – If you tested before November 2016, you can transfer your results to FamilyTreeDNA and order upgrades if a sample remains

Here are step-by-step instructions for completing all three.

First – Preserve Your Results

Sign on to your account at The Genographic Project. You’ll notice an option to print your results.

Geno profile

Scroll down and take one last look. Did you miss anything?

Your profile page includes the ability to download your raw genetic data.

Geno profile option

Your Account page, below, will look slightly different depending on the version of the test you took, but the download option is present for all versions of the test.

Geno download

The download file simply shows raw data values at specific positions and won’t be terribly useful to you.

Geno nucleotides

Generally, it’s the analysis of what these mutations mean, or matching to others for genealogy, that people seek.

At the very bottom of your results page, you’ll see the option to Contribute to Science.

Geno contribute

Click on “How You Can Help.”

Second – Contribute to Scientific Research

The best way to assure the legacy of the Genographic Project is to opt-in for science research.

You can learn more about what happens when you authorize your results for scientific research, here.

Geno contribute box

Checking the little box authorizes anonymized scientific research on your sample now and in the future. This assures that your results won’t be destroyed on June 30th and will continue to be available to scientists.

The Genographic Project celebrated its 15th birthday in April 2020. Genographic Project data, including over 80,000 local and indigenous participants from over 100 countries, in addition to contributed public participation samples, has been included in approximately 85 research papers worldwide. Collaborative research is still underway. There’s still so much to learn.

Dr. Miguel Vilar, the lead scientist for the Genographic Project, is a partner in The Million Mito Project. The anonymized mitochondrial results of people who have opted-in for science will be available to that project, and others, through Dr. Vilar. Please support rewriting the tree of womankind by opting-in for scientific research.

Those words, “in the future” are the key to making sure this critical opportunity to continue the science doesn’t die.

If you don’t want to scroll down your page, you can access the scientific contribution authorization page directly from your profile.

Geno profile 2

To contribute to science, Click on the “My Contribution to Science” tab.”

Geno profile contribute

You’ll see the following screen. Then, check the box and click on the yellow “Contribute to Science” button. You’ll then be prompted with a few questions about your maternal and paternal heritage.

Geno check box

Contributing your results to science helps further scientific research into mankind, but transferring your results to FamilyTreeDNA preserves the usefulness of your DNA results for you and facilitates upgrading your DNA to obtain even more information.

Transferring also allows you to participate fully in The Million Mito Project which requires a full sequence mitochondrial DNA sample.

Third – Transfer Your Results to FamilyTreeDNA

If you tested before November 2016 when the Genographic Project switched to Helix for processing, you can transfer your results easily to Family Tree DNA.

If you don’t remember when you tested, sign in to your account. It’s easy to tell if transferring is an option.

Geno transfer option

If you are eligible to transfer, you’ll see this transfer option when you sign in.

Just click on the “Transfer Your Results” button. If you don’t want to sign in to Genographic to do the transfer, just click on this transfer link directly.

Geno transfer FTDNA

You will then see this no-hassle transfer option on the Family Tree DNA web page. Because FamilyTreeDNA did the laboratory processing for the Genographic Project from its inception in 2005 until November 2016, all you need to do is enter your Genographic kit number and the transfer takes place automatically.

Please note that if you DON’T transfer NOW, the Genographic Project is requesting the destruction of all non-transferred kits after June 30th, per their website.

Geno destroy

As you might imagine, preserving the DNA of a deceased person is critical if they didn’t test elsewhere and you have the authority to manage their DNA.

In order to support The Million Mito Project, Family Tree DNA is emailing a coupon to all people who transfer, offering a discount to upgrade to a full sequence mitochondrial DNA test.

After you transfer to Family Tree DNA, be sure to enter your earliest known ancestor and upload a tree. Here’s my “Four Quick Tips” article about getting the most out of mitochondrial DNA result, but it’s sage advice for Y DNA as well.

Bonus – Upgrade Transferred Kits

If you transfer your Genographic results to FamilyTreeDNA, you can then utilize the DNA sample provided for your Genographic DNA test for additional testing

Different versions of the Genographic Project testing provided various types of results for your DNA. In some versions, testers received 12 Y STR markers or partial mitochondrial DNA results, and in other versions, partial haplogroups. You can only transfer what the Genographic provided, of course, but once transferred, you can order products and upgrades at Family Tree DNA, assuming a sample remains.

This is important, especially if you control the kit for a loved one who has now passed away. This may be your only opportunity to obtain their Y, mitochondrial, and/or autosomal DNA results. For example, my mother passed away before autosomal DNA testing was possible, but I’ve since upgraded her test at Family Tree DNA and was able to do so because her DNA was archived.

Support Science

Please support The Million Mito Project and other academic research by:

  • Choosing to contribute to science through the Genographic project and
  • By transferring your results to Family Tree DNA so that you can learn more and upgrade

Both options are totally free, and both equally important.

Time is of the essence. You must act before June 30th.

Don’t let this be goodbye, simply au revior – the legacy of your DNA can live on in another place, another way, another day.

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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

Genealogy Research

2018 – The Year of the Segment

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Looking in the rear view mirror, what a year! Some days it’s been hard to catch your breath things have been moving so fast.

What were the major happenings, how did they affect genetic genealogy and what’s coming in 2019?

The SNiPPY Award

First of all, I’m giving an award this year. The SNiPPY.

Yea, I know it’s kinda hokey, but it’s my way of saying a huge thank you to someone in this field who has made a remarkable contribution and that deserves special recognition.

Who will it be this year?

Drum roll…….

The 2018 SNiPPY goes to…

DNAPainter – The 2018 SNiPPY award goes to DNAPainter, without question. Applause, everyone, applause! And congratulations to Jonny Perl, pictured below at Rootstech!

Jonny Perl created this wonderful, visual tool that allows you to paint your matches with people on your chromosomes, assigning the match to specific ancestors.

I’ve written about how to use the tool  with different vendors results and have discovered many different ways to utilize the painted segments. The DNA Painter User Group is here on Facebook. I use DNAPainter EVERY SINGLE DAY to solve a wide variety of challenges.

What else has happened this year? A lot!

Ancient DNA – Academic research seldom reports on Y and mitochondrial DNA today and is firmly focused on sequencing ancient DNA. Ancient genome sequencing has only recently been developed to a state where at least some remains can be successfully sequenced, but it’s going great guns now. Take a look at Jennifer Raff’s article in Forbes that discusses ancient DNA findings in the Americas, Europe, Southeast Asia and perhaps most surprising, a first generation descendant of a Neanderthal and a Denisovan.

From Early human dispersals within the Americas by Moreno-Mayer et al, Science 07 Dec 2018

Inroads were made into deeper understanding of human migration in the Americas as well in the paper Early human dispersals within the Americas by Moreno-Mayer et al.

I look for 2019 and on into the future to hold many more revelations thanks to ancient DNA sequencing as well as using those sequences to assist in understanding the migration patterns of ancient people that eventually became us.

Barbara Rae-Venter and the Golden State Killer Case

Using techniques that adoptees use to identify their close relatives and eventually, their parents, Barbara Rae-Venter assisted law enforcement with identifying the man, Joseph DeAngelo, accused (not yet convicted) of being the Golden State Killer (GSK).

A very large congratulations to Barbara, a retired patent attorney who is also a genealogist. Nature recognized Ms. Rae-Venter as one of 2018’s 10 People Who Mattered in Science.

DNA in the News

DNA is also represented on the 2018 Nature list by Viviane Slon, a palaeogeneticist who discovered an ancient half Neanderthal, half Denisovan individual and sequenced their DNA and He JianKui, a Chinese scientist who claims to have created a gene-edited baby which has sparked widespread controversy. As of the end of the year, He Jiankui’s research activities have been suspended and he is reportedly sequestered in his apartment, under guard, although the details are far from clear.

In 2013, 23andMe patented the technology for designer babies and I removed my kit from their research program. I was concerned at the time that this technology knife could cut two ways, both for good, eliminating fatal disease-causing mutations and also for ethically questionable practices, such as eugenics. I was told at the time that my fears were unfounded, because that “couldn’t be done.” Well, 5 years later, here we are. I expect the debate about the ethics and eventual regulation of gene-editing will rage globally for years to come.

Elizabeth Warren’s DNA was also in the news when she took a DNA test in response to political challenges. I wrote about what those results meant scientifically, here. This topic became highly volatile and politicized, with everyone seeming to have a very strongly held opinion. Regardless of where you fall on that opinion spectrum (and no, please do not post political comments as they will not be approved), the topic is likely to surface again in 2019 due to the fact that Elizabeth Warren has just today announced her intention to run for President. The good news is that DNA testing will likely be discussed, sparking curiosity in some people, perhaps encouraging them to test. The bad news is that some of the discussion may be unpleasant at best, and incorrect click-bait at worst. We’ve already had a rather unpleasant sampling of this.

Law Enforcement and Genetic Genealogy

The Golden State Killer case sparked widespread controversy about using GedMatch and potentially other genetic genealogy data bases to assist in catching people who have committed violent crimes, such as rape and murder.

GedMatch, the database used for the GSK case has made it very clear in their terms and conditions that DNA matches may be used for both adoptees seeking their families and for other uses, such as law enforcement seeking matches to DNA sequenced during a criminal investigation. Since April 2018, more than 15 cold case investigations have been solved using the same technique and results at GedMatch. Initially some people removed their DNA from GedMatch, but it appears that the overwhelming sentiment, based on uploads, is that people either aren’t concerned or welcome the opportunity for their DNA matches to assist apprehending criminals.

Parabon Nanolabs in May established a genetic genealogy division headed by CeCe Moore who has worked in the adoptee community for the past several years. The division specializes in DNA testing forensic samples and then assisting law enforcement with the associated genetic genealogy.

Currently, GedMatch is the only vendor supporting the use of forensic sample matching. Neither 23anMe nor Ancestry allow uploaded data, and MyHeritage and Family Tree DNA’s terms of service currently preclude this type of use.

MyHeritage

Wow talk about coming onto the DNA world stage with a boom.

MyHeritage went from a somewhat wobbly DNA start about 2 years ago to rolling out a chromosome browser at the end of January and adding important features such as SmartMatching which matches your DNA and your family trees. Add triangulation to this mixture, along with record matching, and you’re got a #1 winning combination.

It was Gilad Japhet, the MyHeritage CEO who at Rootstech who christened 2018 “The Year of the Segment,” and I do believe he was right. Additionally, he announced that MyHeritage partnered with the adoption community by offering 15,000 free kits to adoptees.

In November, MyHeritage hosted MyHeritage LIVE, their first user conference in Oslo, Norway which focused on both their genealogical records offerings as well as DNA. This was a resounding success and I hope MyHeritage will continue to sponsor conferences and invest in DNA. You can test your DNA at MyHeritage or upload your results from other vendors (instructions here). You can follow my journey and the conference in Olso here, here, here, here and here.

GDPR

GDPR caused a lot of misery, and I’m glad the implementation is behind us, but the the ripples will be affecting everyone for years to come.

GDPR, the European Data Protection Regulation which went into effect on May 25,  2018 has been a mixed and confusing bag for genetic genealogy. I think the concept of users being in charge and understanding what is happened with their data, and in this case, their data plus their DNA, is absolutely sound. The requirements however, were created without any consideration to this industry – which is small by comparison to the Googles and Facebooks of the world. However, the Googles and Facebooks of the world along with many larger vendors seem to have skated, at least somewhat.

Other companies shut their doors or restricted their offerings in other ways, such as World Families Network and Oxford Ancestors. Vendors such as Ancestry and Family Tree DNA had to make unpopular changes in how their users interface with their software – in essence making genetic genealogy more difficult without any corresponding positive return. The potential fines, 20 million plus Euro for any company holding data for EU residents made it unwise to ignore the mandates.

In the genetic genealogy space, the shuttering of both YSearch and MitoSearch was heartbreaking, because that was the only location where you could actually compare Y STR and mitochondrial HVR1/2 results. Not everyone uploaded their results, and the sites had not been updated in a number of years, but the closure due to GDPR was still a community loss.

Today, mitoydna.org, a nonprofit comprised of genetic genealogists, is making strides in replacing that lost functionality, plus, hopefully more.

On to more positive events.

Family Tree DNA

In April, Family Tree DNA announced a new version of the Big Y test, the Big Y-500 in which at least 389 additional STR markers are included with the Big Y test, for free. If you’re lucky, you’ll receive between 389 and 439 new markers, depending on how many STR markers above 111 have quality reads. All customers are guaranteed a minimum of 500 STR markers in total. Matching was implemented in December.

These additional STR markers allow genealogists to assemble additional line marker mutations to more granularly identify specific male lineages. In other words, maybe I can finally figure out a line marker mutation that will differentiate my ancestor’s line from other sons of my founding ancestor😊

In June, Family Tree DNA announced that they had named more than 100,000 SNPs which means many haplogroup additions to the Y tree. Then, in September, Family Tree DNA published their Y haplotree, with locations, publicly for all to reference.

I was very pleased to see this development, because Family Tree DNA clearly has the largest Y database in the industry, by far, and now everyone can reap the benefits.

In October, Family Tree DNA published their mitochondrial tree publicly as well, with corresponding haplogroup locations. It’s nice that Family Tree DNA continues to be the science company.

You can test your Y DNA, mitochondrial or autosomal (Family Finder) at Family Tree DNA. They are the only vendor offering full Y and mitochondrial services complete with matching.

2018 Conferences

Of course, there are always the national conferences we’re familiar with, but more and more, online conferences are becoming available, as well as some sessions from the more traditional conferences.

I attended Rootstech in Salt Lake City in February (brrrr), which was lots of fun because I got to meet and visit with so many people including Mags Gaulden, above, who is a WikiTree volunteer and writes at Grandma’s Genes, but as a relatively expensive conference to attend, Rootstech was pretty miserable. Rootstech has reportedly made changes and I hope it’s much better for attendees in 2019. My attendance is very doubtful, although I vacillate back and forth.

On the other hand, the MyHeritage LIVE conference was amazing with both livestreamed and recorded sessions which are now available free here along with many others at Legacy Family Tree Webinars.

Family Tree University held a Virtual DNA Conference in June and those sessions, along with others, are available for subscribers to view.

The Virtual Genealogical Association was formed for those who find it difficult or impossible to participate in local associations. They too are focused on education via webinars.

Genetic Genealogy Ireland continues to provide their yearly conference sessions both livestreamed and recorded for free. These aren’t just for people with Irish genealogy. Everyone can benefit and I enjoy them immensely.

Bottom line, you can sit at home and educate yourself now. Technology is wonderful!

2019 Conferences

In 2019, I’ll be speaking at the National Genealogical Society Family History Conference, Journey of Discovery, in St. Charles, providing the Special Thursday Session titled “DNA: King Arthur’s Mighty Genetic Lightsaber” about how to use DNA to break through brick walls. I’ll also see attendees at Saturday lunch when I’ll be providing a fun session titled “Twists and Turns in the Genetic Road.” This is going to be a great conference with a wonderful lineup of speakers. Hope to see you there.

There may be more speaking engagements at conferences on my 2019 schedule, so stay tuned!

The Leeds Method

In September, Dana Leeds publicized The Leeds Method, another way of grouping your matches that clusters matches in a way that indicates your four grandparents.

I combine the Leeds method with DNAPainter. Great job Dana!

Genetic Affairs

In December, Genetic Affairs introduced an inexpensive subscription reporting and visual clustering methodology, but you can try it for free.

I love this grouping tool. I have already found connections I didn’t know existed previously. I suggest joining the Genetic Affairs User Group on Facebook.

DNAGedcom.com

I wrote an article in January about how to use the DNAGedcom.com client to download the trees of all of your matches and sort to find specific surnames or locations of their ancestors.

However, in December, DNAGedcom.com added another feature with their new DNAGedcom client just released that downloads your match information from all vendors, compiles it and then forms clusters. They have worked with Dana Leeds on this, so it’s a combination of the various methodologies discussed above. I have not worked with the new tool yet, as it has just been released, but Kitty Cooper has and writes about it here.  If you are interested in this approach, I would suggest joining the Facebook DNAGedcom User Group.

Rootsfinder

I have not had a chance to work with Rootsfinder beyond the very basics, but Rootsfinder provides genetic network displays for people that you match, as well as triangulated views. Genetic networks visualizations are great ways to discern patterns. The tool creates match or triangulation groups automatically for you.

Training videos are available at the website and you can join the Rootsfinder DNA Tools group at Facebook.

Chips and Imputation

Illumina, the chip maker that provides the DNA chips that most vendors use to test changed from the OmniExpress to the GSA chip during the past year. Older chips have been available, but won’t be forever.

The newer GSA chip is only partially compatible with the OmniExpress chip, providing limited overlap between the older and the new results. This has forced the vendors to use imputation to equalize the playing field between the chips, so to speak.

This has also caused a significant hardship for GedMatch who is now in the position of trying to match reasonably between many different chips that sometimes overlap minimally. GedMatch introduced Genesis as a sandbox beta version previously, but are now in the process of combining regular GedMatch and Genesis into one. Yes, there are problems and matching challenges. Patience is the key word as the various vendors and GedMatch adapt and improve their required migration to imputation.

DNA Central

In June Blaine Bettinger announced DNACentral, an online monthly or yearly subscription site as well as a monthly newsletter that covers news in the genetic genealogy industry.

Many educators in the industry have created seminars for DNACentral. I just finished recording “Getting the Most out of Y DNA” for Blaine.

Even though I work in this industry, I still subscribed – initially to show support for Blaine, thinking I might not get much out of the newsletter. I’m pleased to say that I was wrong. I enjoy the newsletter and will be watching sessions in the Course Library and the Monthly Webinars soon.

If you or someone you know is looking for “how to” videos for each vendor, DNACentral offers “Now What” courses for Ancestry, MyHeritage, 23andMe, Family Tree DNA and Living DNA in addition to topic specific sessions like the X chromosome, for example.

Social Media

2018 has seen a huge jump in social media usage which is both bad and good. The good news is that many new people are engaged. The bad news is that people often given faulty advice and for new people, it’s very difficult (nigh on impossible) to tell who is credible and who isn’t. I created a Help page for just this reason.

You can help with this issue by recommending subscribing to these three blogs, not just reading an article, to newbies or people seeking answers.

Always feel free to post links to my articles on any social media platform. Share, retweet, whatever it takes to get the words out!

The general genetic genealogy social media group I would recommend if I were to select only one would be Genetic Genealogy Tips and Techniques. It’s quite large but well-managed and remains positive.

I’m a member of many additional groups, several of which are vendor or interest specific.

Genetic Snakeoil

Now the bad news. Everyone had noticed the popularity of DNA testing – including shady characters.

Be careful, very VERY careful who you purchase products from and where you upload your DNA data.

If something is free, and you’re not within a well-known community, then YOU ARE THE PRODUCT. If it sounds too good to be true, it probably is. If it sounds shady or questionable, it’s probably that and more, or less.

If reputable people and vendors tell you that no, they really can’t determine your Native American tribe, for example, no other vendor can either. Just yesterday, a cousin sent me a link to a “tribe” in Canada that will, “for $50, we find one of your aboriginal ancestors and the nation stamps it.” On their list of aboriginal people we find one of my ancestors who, based on mitochondrial DNA tests, is clearly NOT aboriginal. Snake oil comes in lots of flavors with snake oil salesmen looking to prey on other people’s desires.

When considering DNA testing or transfers, make sure you fully understand the terms and conditions, where your DNA is going, who is doing what with it, and your recourse. Yes, read every single word of those terms and conditions. For more about legalities, check out Judy Russell’s blog.

Recommended Vendors

All those DNA tests look yummy-good, but in terms of vendors, I heartily recommend staying within the known credible vendors, as follows (in alphabetical order).

For genetic genealogy for ethnicity AND matching:

  • 23andMe
  • Ancestry
  • Family Tree DNA
  • GedMatch (not a vendor because they don’t test DNA, but a reputable third party)
  • MyHeritage

You can read about Which DNA Test is Best here although I need to update this article to reflect the 2018 additions by MyHeritage.

Understand that both 23andMe and Ancestry will sell your DNA if you consent and if you consent, you will not know who is using your DNA, where, or for what purposes. Neither Family Tree DNA, GedMatch, MyHeritage, Genographic Project, Insitome, Promethease nor LivingDNA sell your DNA.

The next group of vendors offers ethnicity without matching:

  • Genographic Project by National Geographic Society
  • Insitome
  • LivingDNA (currently working on matching, but not released yet)

Health (as a consumer, meaning you receive the results)

Medical (as a contributor, meaning you are contributing your DNA for research)

  • 23andMe
  • Ancestry
  • DNA.Land (not a testing vendor, doesn’t test DNA)

There are a few other niche vendors known for specific things within the genetic genealogy community, many of whom are mentioned in this article, but other than known vendors, buyer beware. If you don’t see them listed or discussed on my blog, there’s probably a reason.

What’s Coming in 2019

Just like we couldn’t have foreseen much of what happened in 2018, we don’t have access to a 2019 crystal ball, but it looks like 2019 is taking off like a rocket. We do know about a few things to look for:

  • MyHeritage is waiting to see if envelope and stamp DNA extractions are successful so that they can be added to their database.
  • www.totheletterDNA.com is extracting (attempting to) and processing DNA from stamps and envelopes for several people in the community. Hopefully they will be successful.
  • LivingDNA has been working on matching since before I met with their representative in October of 2017 in Dublin. They are now in Beta testing for a few individuals, but they have also just changed their DNA processing chip – so how that will affect things and how soon they will have matching ready to roll out the door is unknown.
  • Ancestry did a 2018 ethnicity update, integrating ethnicity more tightly with Genetic Communities, offered genetic traits and made some minor improvements this year, along with adding one questionable feature – showing your matches the location where you live as recorded in your profile. (23andMe subsequently added the same feature.) Ancestry recently said that they are promising exciting new tools for 2019, but somehow I doubt that the chromosome browser that’s been on my Christmas list for years will be forthcoming. Fingers crossed for something new and really useful. In the mean time, we can download our DNA results and upload to MyHeritage, Family Tree DNA and GedMatch for segment matching, as well as utilize Ancestry’s internal matching tools. DNA+tree matching, those green leaf shared ancestor hints, is still their strongest feature.
  • The Family Tree DNA Conference for Project Administrators will be held March 22-24 in Houston this year, and I’m hopeful that they will have new tools and announcements at that event. I’m looking forward to seeing many old friends in Houston in March.

Here’s what I know for sure about 2019 – it’s going to be an amazing year. We as a community and also as individual genealogists will be making incredible discoveries and moving the ball forward. I can hardly wait to see what quandaries I’ve solved a year from now.

What mysteries do you want to unravel?

I’d like to offer a big thank you to everyone who made 2018 wonderful and a big toast to finding lots of new ancestors and breaking down those brick walls in 2019.

Happy New Year!!!

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Disclosure

I receive a small contribution when you click on some (but not all) 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

Mass Pre-Contact Native Grave in California Yields Disappointing Results

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In 2012 during excavation for a shopping mall near San Francisco, a mass grave containing 7 men was unearthed.  The manner in which they were buried led archaeologists to believe that they had been murdered, and quickly buried, not ceremonially buried as tribal members would be.  They were found among more than 200 other burials.

The victims ages ranged from about 18 to about 40 and scientists concentrated on analyzing the wounds, cause of death and DNA of these men.  In part, they wanted to see if they were related to each other and if they originated in this area or came from elsewhere.  In other words, were they unsuccessful invaders as suggested by the circumstances of their burials?

This article tells more about the excavations and includes some photos.

Analysis suggests the men lived about 1200 years ago, clearly before European contact.  Analysis of the men’s teeth provided information about their history.  These men had spent their lives together, but their isotope signatures were clearly different than the individuals in the balance of the burials.  Indeed, they look to have been invaders.

An academic paper titled “Isotopic and genetic analysis of a mass grave in central California: Implications for precontact hunter-gatherer warfare” was published a few weeks ago in the American Journal of Physical Anthropology.  The article itself is behind a paywall available here.  The abstract is provided below:

Abstract

OBJECTIVES:

Analysis of a mass burial of seven males at CA-ALA-554, a prehistoric site in the Amador Valley, CA, was undertaken to determine if the individuals were “locals” or “non-locals,” and how they were genetically related to one another.

METHODS:

The study includes osteological, genetic (mtDNA), and stable (C, N, O, S) and radiogenic (Sr) isotope analyses of bone and tooth (first and third molars) samples.

RESULTS:

Isotopes in first molars, third molars, and bone show they spent the majority of their lives living together. They are not locals to the Amador Valley, but were recently living to the east in the San Joaquin Valley, suggesting intergroup warfare as the cause of death. The men were not maternally related, but represent at least four different matrilines. The men also changed residence as a group between age 16 and adult years.

CONCLUSIONS:

Isotope data suggest intergroup warfare accounts for the mass burial. Genetic data suggest the raiding party included sets of unrelated men, perhaps from different households. Generalizing from this case and others like it, we hypothesize that competition over territory was a major factor behind ancient warfare in Central California. We present a testable model of demographic expansion, wherein villages in high-population-density areas frequently fissioned, with groups of individuals moving to lower-population-density areas to establish new villages. This model is consistent with previous models of linguistic expansion. Am J Phys Anthropol, 2015. © 2015 Wiley Periodicals, Inc.

http://www.ncbi.nlm.nih.gov/pubmed/26331533

Genetic Information

I was extremely disappointed with the genetic information.  Working with the local Ohlone community, the scientists did attempt to extract DNA from the 7 individuals in the mass grave, with 6 extractions being successful.

They only analyzed the HVR1 region of the mitochondrial DNA.

Eerkens 2015 table

In the paper, the authors indicate that nuclear DNA which would include the Y chromosome as well as autosomal DNA was too degraded to recover.  While disappointing, there is nothing they can do about that.

However, only analyzing the mitochondrial DNA, which they clearly were able to amplify, at the HVR1 level is an incredible lost opportunity.  They obtained enough resolution in 6 of the individuals to obtain general haplogroup assignments.  However, the HVR2 and coding regions would have provided the defining information about extended haplogroups and individual mutations, including, perhaps, haplogroups rarely or never seen previously in the Americas.

Furthermore, given the information above, we can’t tell if the D1 individuals are related to each other matrilineally or not.  The B2 individuals are clearly not related in a recent timeframe nor are the A2, B2 and D1 people related to each other on their matrilineal line.  What a shame more information wasn’t obtained.

While I’m grateful that DNA testing was undertaken, I’m saddened by the partial results, especially in this day of full genomic sequencing for ancient DNA specimens.  I’m perplexed as to why they would not have obtained as much information as was possible, given the significant effort expended in recovering any ancient DNA specimen.

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Homo Naledi – A New Species Discovered

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The Cradle of Humankind World Heritage Site near Johannesburg, South Africa has once again produced bones.  Previous finds, nearly one third of all ancient hominin fossils found, date to 3.5 million years of age.  This new find may be the bones of our ancestor, but regardless, they certainly are the bones of a new, previously unknown, species.

The announcement came this week and articles can be seen online in several locations.  The National Geographic Society is a partner in the excavation and retrieval of the bones from a very difficult cave, Rising Star, through only a very small opening following a precipitous decline.  Stated bluntly – this is a “scare the hell out of you” cave.  Not exactly convenient or inviting.

Rising Star Cave

“Dinaledi Chamber illustration” by Paul H. G. M. Dirks et al – http://elifesciences.org/content/4/e09561. Licensed under CC BY 4.0 via Commons – https://commons.wikimedia.org/wiki/File:Dinaledi_Chamber_illustration.jpg#/media/File:Dinaledi_Chamber_illustration.jpg

There was more than one skeleton present.  In this article and video from the New York Times, you can see that many bones were recovered, quite obviously from multiple individuals.  More than 1550 in total – representing at least 15 different individuals.  How did they get in this extremely remote cave with very limited access in the first place? And why?

Is this a separate species from ours, or our ancestors?  How long ago did they live, and where do they fit on the family tree?  The scientists are now referring to the ancient family tree as a braided stream – a river that divides into channels only to converge again later.

These announcements are being followed by a special on Nova/National Geographic Special titled the “Dawn of Humanity” which premieres on Sept. 16, 2015 at 9 PM ET/8 Central on PBS and is streaming online now.  This documentary details the discovery and excavation of the fossils in the cave including Homo Naledi.

In the mean time, take a look at this wonderful article, chock full of pictures of course, by National Geographic.  If you subscribe to the National Geographic magazine, guess what will be on the cover of the October issue???

This article in New Scientist has a great reconstruction of the Homo Naledi skull, and states that no attempt has yet been made to extract DNA.  I continue to remind myself that patience is a virtue.

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Some Native Americans Had Oceanic Ancestors

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This week has seen a flurry of new scientific and news articles.  What has been causing such a stir?  It appears that Australian or more accurately, Australo-Melanese DNA has been found in South America’s Native American population. In addition, it has also been found in Aleutian Islanders off the coast of Alaska.  In case you aren’t aware, that’s about 8,500 miles as the crow flies.  That’s one tired crow.  As the person paddles or walks along the shoreline, it’s even further, probably about 12,000 miles.

Aleutians to Brazil

Whatever the story, it was quite a journey and it certainly wasn’t all over flat land.

This isn’t the first inkling we’ve had.  Just a couple weeks ago, it was revealed that the Botocudo remains from Brazil were Polynesian and not admixed with either Native, European or African.  This admixture was first discovered via mitochondrial DNA, but full genome sequencing confirmed their ancestry and added the twist that they were not admixed – an extremely unexpected finding.  This is admittedly a bit confusing, because it implies that there were new Polynesian arrivals in the 1600s or 1700s.

Unlikely as it seems, it obviously happened, so we set that aside as relatively contemporary.

The findings in the papers just released are anything but contemporary.

The First Article

The first article in Science, “Genomic evidence for the Pleistocene and recent population history of Native Americans” by Raghaven et al published this week provides the following summary (bolding is mine):

How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we find that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (KYA), and after no more than 8,000-year isolation period in Beringia. Following their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 KYA, one that is now dispersed across North and South America and the other is restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative ‘Paleoamerican’ relict populations, including the historical Mexican Pericúes and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.

This article in EurekAlert and a second one here discuss the Science paper.

Raghaven 2015

Migration map from the Raghaven paper.

The paper included the gene flow and population migration map, above, along with dates.

The scientists sequenced the DNA of 31 living individuals from the Americas, Siberia and Oceana as follows:

Siberian:

  • Altai – 2
  • Buryat – 2
  • Ket – 2
  • Kiryak – 2
  • Sakha – 2
  • Siberian Yupik – 2

North American Native:

  • Tsimshian (number not stated, but by subtraction, it’s 1)

Southern North American, Central and South American Native:

  • Pima – 1
  • Huichol -1
  • Aymara – 1
  • Yakpa – 1

Oceana:

  • Papuan – 14

The researchers also state that they utilized 17 specimens from relict groups such as the Pericues from Mexico and Fuego-Patagonians from the southernmost tip of South America.  They also sequenced two pre-Columbian mummies from the Sierra Tarahumara in northern Mexico.  In total, 23 ancient samples from the Americas were utilized.

They then compared these results with a reference panel of 3053 individuals from 169 populations which included the ancient Saqqaq Greenland individual at 400 years of age as well as the Anzick child from Montana from about 12,500 years ago and the Mal’ta child from Siberia at 24,000 years of age.

Not surprisingly, all of the contemporary samples with the exception of the Tsimshian genome showed recent western Eurasian admixture.

As expected, the results confirm that the Yupik and Koryak are the closest Eurasian population to the Americas.  They indicate that there is a “clean split” between the Native American population and the Koryak about 20,000 years ago.

They found that “Athabascans and Anzick-1, but not the Greenlandis Inuit and Saqqaq belong to the same initial migration wave that gave rise to present-day Amerindians from southern North America and Central and South America, and that this migration likely followed a coastal route, given our current understanding of the glacial geological and paleoenvironmental parameters of the Late Pleistocene.”

Evidence of gene flow between the two groups was also found, meaning between the Athabascans and the Inuit.  Additionally, they found evidence of post-split gene flow between Siberians and Native Americans which seems to have stopped about 12,000 years ago, which meshes with the time that the Beringia land bridge was flooded by rising seas, cutting off land access between the two land masses.

They state that the results support all Native migration from Siberia, contradicting claims of an early migration from Europe.

The researchers then studied the Karitiana people of South America and determined that the two groups, Athabascans and Karitiana diverged about 13,000 years ago, probably not in current day Alaska, but in lower North America.  This makes sense, because the Clovis Anzick child, found in Montana, most closely matches people in South America.

By the Clovis period of about 12,500 years ago, the Native American population had already split into two branches, the northern and southern, with the northern including Athabascan and other groups such as the Chippewa, Cree and Ojibwa.  The Southern group included people from southern North America and Central and South America.

Interestingly, while admixture with the Inuit was found with the Athabascan, Inuit admixture was not found among the Cree, Ojibwa and Chippewa.  The researchers suggest that this may be why the southern branch, such as the Karitiana are genetically closer to the northern Amerindians located further east than to northwest coast Amerindians and Athabascans.

Finally, we get to the Australian part.  The researchers when trying to sort through the “who is closer to whom” puzzle found unexpected results.  They found that some Native American populations including Aleutian Islanders, Surui (Brazil) and Athabascans are closer to Australo-Melanesians compared to other Native Americans, such as Ojibwa, Cree and Algonquian and South American Purepecha (Mexico), Arhuaco (Colombia) and Wayuu (Colombia, Venezuela).  In fact, the Surui are one of the closest populations to East Asians and Australo-Melanese, the latter including Papuans, non-Papuan Melanesians, Solomon Islanders and hunter-gatherers such as Aeta. The researchers acknowledge these are weak trends, but they are nonetheless consistently present.

Dr. David Reich, from Harvard, a co-author of another paper, also published this past week, says that 2% of the DNA of Amazonians is from Oceana.  If that is consistent, it speaks to a founder population in isolation, such that the 2% just keeps getting passed around in the isolated population, never being diluted by outside DNA.  I would suggest that is not a weak signal.

The researchers suggest that the variance in the strength of this Oceanic signal suggests that the introduction of the Australo-Melanese occurred after the initial peopling of the Americas.  The ancient samples cluster with the Native American groups and do not show the Oceanic markers and show no evidence of gene flow from Oceana.

The researchers also included cranial morphology analysis, which I am omitting since cranial morphology seems to have led researchers astray in the past, specifically in the case of Kennewick man.

One of the reasons cranial morphology is such a hotly debated topic is because of the very high degree of cranial variance found in early skeletal remains.  One of the theories evolving from the cranial differences involving the populating of the Americans has been that the Australo-Melanese were part of a separate and earlier migration that gave rise to the earliest Americans who were then later replaced by the Asian ancestors of current day Native Americans.  If this were the case, then the now-extinct Fuego-Patagonains samples from the location furthest south on the South American land mass should have included DNA from Oceana, but it didn’t.

The Second Article

A second article published this week, titled “’Ghost population’ hints at long lost migration to the Americas” by Ellen Callaway discusses similar findings, presented in a draft letter to Nature titled “Genetic evidence for two founding populations of the Americas” by Skoglund et al.  This second group discovers the same artifact Australo-Melanesian DNA in Native American populations but suggests that it may be from the original migration and settlement event or that there may have been two distinct founding populations that settled at the same time or that there were two founding events.

EurekAlert discusses the article as well.

It’s good to have confirmation and agreement between the two labs who happened across these results independently that the Australo-Melanesian DNA is present in some Native populations today.

Their interpretations and theories about how this Oceanic DNA arrived in some of the Native populations vary a bit, but if you read the details, it’s really not quite as different as it first appears from the headlines.  Neither group claims to know for sure, and both discuss possibilities.

Questions remain.  For example, if the founding group was small, why, then, don’t all of the Native people and populations have at least some Oceanic markers?  The Anzick Child from 12,500 years ago does not.  He is most closely related to the tribes in South America, where the Oceanic markers appear with the highest frequencies.

In the Harvard study, the scientists fully genome sequenced 63 individuals without discernable evidence of European or African ancestors in 21 Native American populations, restricting their study to individuals from Central and South America that have the strongest evidence of being entirely derived from a homogenous First American ancestral population.

Their results show that the two Amazonian groups, Surui and Karitians are closest to the “Australasian populations, the Onge from the Andaman Island in the Bay of Bengal (a so-called ‘Negrito’ group), New Guineans, Papuans and indigenous Australians.”  Within those groups, the Australasian populations are the only outliers – meaning no Africans, Europeans or East Asian DNA found in the Native American people.

When repeating these tests, utilizing blood instead of saliva, a third group was shown to also carry these Oceanic markers – the Xavante, a population from the Brazilian plateau that speaks a language of the Ge group that is different from the Tupi language group spoke by the Karitians and Surui.

Skoglund 2015-2

The closest populations that these Native people matched in Oceana, shown above on the map from the draft Skoglund letter, were, in order, New Guineans, Papuans and Andamanese.  The researchers further state that populations from west of the Andes or north of the Panama isthmus show no significant evidence of an affinity to the Onge from the Andaman Islands with the exception of the Cabecar (Costa Rica).

That’s a very surprising finding, given that one would expect more admixture on the west, which is the side of the continent where the migration occurred.

The researchers then compared the results with other individuals, such as Mal’ta child who is known to have contributed DNA to the Native people today, and found no correlation with Oceanic DNA.  Therefore, they surmised that the Oceanic admixture cannot be explained by a previously known admixture event.

They propose that a mystery population they have labeled as “Population Y” (after Ypykuera which means ancestor in the Tupi language family) contributed the Australasian lineage to the First Americans and that is was already mixed into the lineage by the time it arrived in Brazil.

According to their work, Population Y may itself have been admixed, and the 2% of Oceanic DNA found in the Brazilian Natives may be an artifact of between 2 and 85% of the DNA of the Surui, Karitiana and Xavante that may have come from Population Y.  They mention that this result is striking in that the majority of the craniums that are more Oceanic in Nature than Asiatic, as would be expected from people who migrated from Siberia, are found in Brazil.

They conclude that the variance in the presence or absence of DNA in Native people and remains, and the differing percentages argue for more than one migration event and that “the genetic ancestry of Native Americans from Central and South America cannot be due to a single pulse of migration south of the Late Pleistocene ice sheets from a homogenous source population, and instead must reflect at least two streams of migration or alternatively a long drawn out period of gene flow from a structured Beringian or Northeast Asian source.”

Perhaps even more interesting is the following statement:

“The arrival of population Y ancestry in the Americas must in any scenario have been ancient: while Population Y shows a distant genetic affinity to Andamanese, Australian and New Guinean populations, it is not particularly closely related to any of them, suggesting that the source of population Y in Eurasia no longer exists.”

They further state they find no admixture indication that would suggest that Population Y arrived in the last few thousand years.

So, it appears that perhaps the Neanderthals and Denisovans were not the only people who were our ancestors, but no longer exist as a separate people, only as an admixed part of us today.  We are their legacy.

The Take Away

When I did the Anzick extractions, we had hints that something of this sort might have been occurring.  For example, I found surprising instances of haplogroup M, which is neither European, African nor Native American, so far as we know today.  This may have been a foreshadowing of this Oceanic admixture.  It may also be a mitochondrial artifact.  Time will tell.  Perhaps haplogroup M will turn out to be Native by virtue of being Oceanic and admixed thousands of years ago.  There is still a great deal to learn.  Regardless of how these haplogroups and Oceanic DNA arrived in Brazil in South America and in the Aleutian Islands off of Alaska, one thing is for sure, it did.

We know that the Oceanic DNA found in the Brazilian people studied for these articles is not contemporary and is ancient.  This means that it is not related to the Oceanic DNA found in the Botocudo people, who, by the way, also sport mitochondrial haplogroups that are within the range of Native people, meaning haplogroup B, but have not been found in other Native people.  Specifically, haplogroups B4a1a1 and B4a1a1a.  Additionally, there are other B4a1a, B4a1b and B4a1b1 results found in the Anzick extract which could also be Oceanic.  You can see all of the potential and confirmed Native American mitochondrial DNA results in my article “Native American Mitochondrial Haplogroups” that I update regularly.

We don’t know how or when the Botocudo arrived, but the when has been narrowed to the 1600s or 1700s.  We don’t know how or when the Oceanic DNA in the Brazilian people arrived either, but the when was ancient.  This means that Oceanic DNA has arrived in South America at least twice and is found among the Native peoples both times.

We know that some Native groups have some Oceanic admixture, and others seem to have none, in particular the Northern split group that became the Cree, Ojibwa, Algonquian, and Chippewa.

We know that the Brazilian Native groups are most closely related to Oceanic groups, but that the first paper also found Oceanic admixture in the Aleutian Islands.  The second paper focused on the Central and South American tribes.

We know that the eastern American tribes, specifically the Algonquian tribes are closely related to the South Americans, but they don’t share the Oceanic DNA and neither do the mid-continent tribes like the Cree, Ojibwa and Chippewa.  The only Paleolithic skeleton that has been sequenced, Anzick, from 12,500 years ago in Montana also does not carry the Oceanic signature.

In my opinion, the disparity between who does and does not carry the Oceanic signature suggests that the source of the Oceanic DNA in the Native population could not have been a member of the first party to exit out of Beringia and settle in what is now the Americas.  Given that this had to be a small party, all of the individuals would have been thoroughly admixed with each other’s ancestral DNA within just a couple of generations.  It would have been impossible for one ancestor’s DNA to only be found in some people.  To me, this argues for one of two scenarios.

First, a second immigration wave that joined the first wave but did not admix with some groups that might have already split off from the original group such as the Anzick/Montana group.

Second, multiple Oceanic immigration events.  We still have to consider the possibility that there were multiple events that introduced Oceanic DNA into the Native population.  In other words, perhaps the Aleutian Islands Oceanic DNA is not from the same migration event as the Brazilian DNA which we know is not from the same event as the Botocudo.  I would very much like to see the Oceanic DNA appear in a migration path of people, not just in one place and then the other.  We need to connect the dots.

What this new information does is to rule out the possibility that there truly was only one wave of migration – one group of people who settled the Americas at one time.  More likely, at least until the land bridge submerged, is that there were multiple small groups that exited Beringia over the 8,000 or so years it was inhabitable.  Maybe one of those groups included people from Oceana.  Someplace, sometime, as unlikely as it seems, it happened.

The amazing thing is that it’s more than 10,000 miles from Australia to the Aleutian Islands, directly across the Pacific.  Early adventurers would have likely followed a coastal route to be sustainable, which would have been significantly longer.  The fact that they survived and sent their DNA on a long adventure from Australia to Alaska to South America – and it’s still present today is absolutely amazing.

Australia to Aleutians

We know we still have a lot to learn and this is the tip of a very exciting iceberg.  As more contemporary and ancient Native people have their full genomes sequenced, we’ll learn more answers.  The answer is in the DNA.  We just have to sequence enough of it and learn how to understand the message being delivered.

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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.

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Botocudo Ancient Remains from Brazil

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Update: Please note that I am leaving this article because the scientific information is accurate, BUT, it was subsequently discovered that the remains were mislabeled in the museum and were not Native.

One thing you can always count on in the infant science of population genetics…  whatever you think you know, for sure, for a fact…well….you don’t.  So don’t say too much, too strongly or you’ll wind up having to decide if you’d like catsup with your crow!  Well, not literally, of course.  It’s an exciting adventure that we’re on together and it just keeps getting better and better.  And the times…they are a changin’.

We have some very interesting news to report.  Fortunately, or unfortunately – the news weaves a new, but extremely interesting, mystery.

Ancient Mitochondrial DNA

Back in 2013, a paper, Identification of Polynesian mtdNA haplogroups in remains of Botocudo Amerindians from Brazil, was published that identified both Native American and Polynesian haplogroups in a group of 14 skeletal remains of Botocudo Indians from Brazil whose remains arrived at a Museum in August of 1890 and who, the scientists felt, died in the second half of the 19th century.

Twelve of their mitochondrial haplogroups were the traditional Native haplogroup of C1.

However, two of the skulls carried Polynesian haplogroups, downstream of haplogroup B, specifically B4a1a1a and B4a1a1, that compare to contemporary individuals from Polynesian, Solomon Island and Fijian populations.  These haplotypes had not been found in Native people or previous remains.

Those haplogroups include what is known as the Polynesian motif and are found in Indonesian populations and also in Madagascar, according to the paper, but the time to the most common recent ancestor for that motif was calculated at 9,300 years plus or minus 2000 years.  This suggests that the motif arose after the Asian people who would become the Native Americans had already entered North and South America through Beringia, assuming there were no later migration waves.

The paper discusses several possible scenarios as to how a Polynesian haplotype found its way to central Brazil among a now extinct Native people. Of course, the two options are either pre-Columbian (pre-1500) contact or post-Columbian contact which would infer from the 1500s to current and suggests that the founders who carried the Polynesian motif were perhaps either slaves or sailors.

In the first half of the 1800s, the Botocudo Indians had been pacified and worked side by side with African slaves on plantations.

Beyond that, without full genome sequencing there was no more that could be determined from the remains at that time.  We know they carried a Polynesian motif, were found among Native American remains and at some point in history, intermingled with the Native people because of where they were found.  Initial contact could have been 9,000 years ago or 200.  There was no way to tell.  They did have some exact HVR1 and HVR2 matches, so they could have been “current,” but I’ve also seen HVR1 and HVR2 matches that reach back to a common ancestor thousands of years ago…so an HVR1/HVR2 match is nothing you can take to the bank, certainly not in this case.

Full Genome Sequencing and Y DNA

This week, one on my subscribers, Kalani, mentioned that Felix Immanuel had uploaded another two kits to GedMatch of ancient remains.  Those two kits are indeed two of the Botocudo remains – the two with the Polynesian mitochondrial motif which have now been fully sequenced.  A corresponding paper has been published as well, “Two ancient genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil” by Malaspinas et al with supplemental information here.

There are two revelations which are absolutely fascinating in this paper and citizen scientist’s subsequent work.

First, their Y haplogroups are C-P3092 and C-Z31878, both equivalent to C-B477 which identifies former haplogroup C1b2.  The Y haplogroups aren’t identified in the paper, but Felix identified them in the raw data files that are available (for those of you who are gluttons for punishment) at the google drive links in Felix’s article Two Ancient DNA from indigenous Botocudos of Brazil.

I’ve never seen haplogroup C1b2 as Native American, but I wanted to be sure I hadn’t missed a bus, so I contacted Ray Banks who is one of the administrators for the main haplogroup C project at Family Tree DNA and also is the coordinator for the haplogroup C portion of the ISOGG tree.

ISOGG y tree

You can see the position of C1b2, C-B477 in yellow on the ISOGG (2015) tree relative to the position of C-P39 in blue, the Native American SNP shown several branches below, both as branches of haplogroup C.

Ray maintains a much more descriptive tree of haplogroup C1 at this link and of C2 at this link.

Ray Banks C1 tree

The branch above is the Polynesian (B477) branch and below, the Native American (P39) branch of haplogroup C.

Ray Banks C2 treeIn addition to confirming the haplogroup that Felix identified, when Ray downloaded the BAM files and analyzed the contents, he found that both samples were also positive for M38 and M208, which moves them downstream two branches from C1b2 (B477).

Furthermore, one of the samples had a mutation at Z32295 which Ray has included as a new branch of the C tree, shown below.

Ray Banks Z32295

Ray indicated that the second sample had a “no read” at Z32295, so we don’t know if he carried this mutation.  Ray mentions that both men are negative for many of the B459 equivalents, which would move them down one more branch.  He also mentioned that about half of the Y DNA sites are missing, meaning they had no calls in the sequence read.  This is common in ancient DNA results.  It would be very interesting to have a Big Y or equivalent test on contemporary individuals with this haplogroup from the Pacific Island region.

Ray notes that all Pacific Islanders may be downstream of Z33295.

Not Admixed

The second interesting aspect of the genomic sequencing is that the remains did not show any evidence of admixture with European, Native American nor African individuals.  More than 97% of their genome fits exactly with the Polynesian motifs.  In other words, they appear to be first generation Polynesians.  They carry Polynesian mitochondrial, Y and autosomal (nuclear) DNA, exclusively.

Botocudo not admixed

In total, 25 Botocudo remains have been analyzed and of those, two have Polynesian ancestry and those two, BOT15 and BOT17, have exclusively Polynesian ancestry as indicated in the graphic above from the paper.

When did they live?  Accelerator mass spectrometry radiocarbon dating with marine correction gives us dates of 1479-1708 AD and 1730-1804 for specimen BOT15 and 1496-1842 for BOT17.

The paper goes on to discuss four possible scenarios for how this situation occurred and the pros and cons of each.

The Polynesian Peru Slave Trade

This occurred between 1862-1864 and can be ruled out because the dates for the skulls predate this trade period, significantly.

The Madagascar-Brazil Slave Trade

The researchers state that Madagascar is known to have been peopled by Southeast Asians and not by Polynesians.  Another factor excluding this option is that it’s known that the Malagasy ancestors admixed with African populations prior to the slave trade.  No such ancestry was detected in the samples, so these individuals were not brought as a result of the Madagascar-Brazil slave trade – contrary to what has been erroneously inferred and concluded.

Voyaging on European Ships as Crew, Passengers or StowAways

Trade on Euroamerican ships in the Pacific only began after 1760 AD and by 1760, Bot15 and Bot17 were already deceased with a probability of .92 and .81, respectively, making this scenario unlikely, but not entirely impossible.

Polynesian Voyaging

Polynesian ancestors originated from East Asia and migrated eastwards, interacting with New Guineans before colonizing the Pacific.  These people did colonize the Pacific, as unlikely as it seems, traveling thousands of miles, reaching New Zealand, Hawaii and Easter Island between 1200 and 1300 AD.  Clearly they did not reach Brazil in this timeframe, at least not as related to these skeletal remains, but that does not preclude a later voyage.

Of the four options, the first two appear to be firmly eliminated which leaves only the second two options.

One of the puzzling aspects of this analysis it the “pure” Polynesian genome, eliminating admixture which precludes earlier arrival.

The second puzzling aspect is how the individuals, and there were at least two, came to find themselves in Minas Gerais, Brazil, and why we have not found this type of DNA on the more likely western coastal areas of South America.

Minas Gerais Brazil

Regardless of how they arrived, they did, and now we know at least a little more of their story.

GedMatch

At GedMatch, it’s interesting to view the results of the one-to-one matching.

Both kits have several matches.  At 5cM and 500 SNPs, kit F999963 has 86 matches.  Of those, the mitochondrial haplogroup distribution is overwhelmingly haplogroup B, specifically B4a1a1 with a couple of interesting haplogroup Ms.

F999963 mito

Y haplogroups are primarily C2, C3 and O.   C3 and O are found exclusively in Asia – meaning they are not Native.

F999963 Y

Kit F999963 matches a couple of people at over 30cM with a generation match estimate just under 5 generations.  Clearly, this isn’t possible given that this person had died by about 1760, according to the paper, which is 255 years or about 8.5-10 generations ago, but it says something about the staying power of DNA segments and probably about endogamy and a very limited gene pool as well.  All matches over 15cM are shown below.

F999963 largest

Kit F999964 matches 97 people, many who are different people that kit F999963 matched.  So these ancient Polynesian people,  F999963 and F999964 don’t appear to be immediate relatives.

F999964 mito

Again, a lot of haplogroup B mitochondrial DNA, but less haplogroup C Y DNA and no haplogroup O individuals.

F999964 Y

Kit F999964 doesn’t match anyone quite as closely as kit F999963 did in terms of total cM, but the largest segment is 12cM, so the generational estimate is still at 4.6,  All matches over 15cM are shown below.

F999964 largest

Who are these individuals that these ancient kits are matching?  Many of these individuals know each other because they are of Hawaiian or Polynesian heritage and have already been working together.  Several of the Hawaiian folks are upwards of 80%, one at 94% and one believed to be 100% Hawaiian.  Some of these matches are to Maori, a Polynesian people from New Zealand, with one believed to be 100% Maori in addition to several admixed Maori.  So obviously, these ancient remains are matching contemporary people with Polynesian ancestry.

The Unasked Question

Sooner or later, we as a community are going to have to face the question of exactly what is Native or aboriginal.  In this case, because we do have the definitive autosomal full genome testing that eliminates admixture, these two individuals are clearly NOT Native.  Without full genomic testing, we would have never known.

But what if they had arrived 200 years earlier, around 1500 AD, one way or another, possibly on an early European ship, and had intermixed with the Native people for 10 generations?  What if they carried a Polynesian mitochondrial (or Y) DNA motif, but they were nearly entirely Native, or so much Native that the Polynesian could no longer be found autosomally?  Are they Native?  Is their mitochondrial or Y DNA now also considered to be Native?  Or is it still Polynesian?  Is it Polynesian if it’s found in the Cook Islands or on Hawaii and Native if found in South America?  How would we differentiate?

What if they arrived, not in 1500 AD, but about the year 500 AD, or 1000 BCE or 2000 BCE or 3000 BCE – after the Native people from Asia arrived but unquestionably before European contact?  Does that make a difference in how we classify their DNA?

We don’t have to answer this yet today, but something tells me that we will, sooner or later…and we might want to start pondering the question.

Acknowledgements: 

I want to thank all of the people involved whose individual work makes this type of comparative analysis possible.  After all, the power of genetic genealogy, contemporary or ancient, is in collaboration.  Without sharing, we have nothing. We learn nothing.  We make no progress.

In addition to the various scientists and papers already noted, special thanks to Felix Immanual for preparing and uploading the ancient files.  This is no small task and the files often take a month of prep each.  Thanks to Kalani for bringing this to my attention.  Thanks to Ray Banks for his untiring work with haplogroup C and for maintaining his haplogroup webpage with specifics about where the various subgroups are found.  Thanks to ISOGG’s volunteers for the haplotree.  Thanks to GedMatch for providing this wonderful platform and tools.  Thanks to everyone who uploads their DNA, and that of their relatives and works on specific types of projects – like Hawaiian and Maori.  Thanks to my haplogroup C-P39 co-administrators, Dr. David Pike and Marie Rundquist, for their contributions to this discussion and for working together on the Native American Haplogroup C-P39 Project.  It’s important to have other people who are passionate about the same subjects to bounce things off of and to work with.  This is the perfect example of the power of collaboration!

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