Haplogroups: DNA SNPs Are Breadcrumbs – Follow Their Path

Recently a reader asked some great questions.

If Y-DNA is unchanged, then why isn’t the Y-DNA of every man the same today? And if it’s not the same, then how do we know that all men descend from Y-Adam? Are the scientists just guessing?

The scientists aren’t guessing, and the recent scientific innovations behind how this works is pretty amazing, so let’s unravel these questions one at a time.

The first thing we need to understand is how Y-DNA is inherited differently from autosomal DNA, and how it mutates.

First, a reminder that:

  • Y-DNA tests the Y chromosome passed from father to son in every generation, unmixed with any DNA of the mother. This article focuses on Y-DNA.
  • Mitochondrial DNA tests the mitochondria passed from mothers to all of their children, but is only passed on by the females, unmixed with the DNA of the father. This article also pertains to mitochondrial SNPS, but we will cover that more specifically later in another article.
  • Autosomal DNA is passed from both parents to their children. Each child inherits half of each parent’s autosomal DNA.

Let’s look at how this works.

Autosomal vs Y-DNA Inheritance

Click on image to enlarge

Autosomal DNA, shown here with the green (male) and pink (female) images, divides in each generation as it’s passed from the parent to their child. Each child inherits half of each parent’s autosomal DNA, meaning chromosomes 1-22. For this discussion, each descendant shown above is a male and has a Y chromosome.

This means that in the first generation, which would be the great-grandfather, about 700,000 locations of his green autosomal DNA are tested for genealogy purposes.

His female partner (pink) also has about 700,000 locations. During recombination, they each contribute about 350,000 SNPs (Single Nucleotide Polymorphisms) of autosomal DNA to their child. Their offspring then has a total of 700,000 SNPs, 350,000 green and 350,000 pink contributed by each parent.

This process is repeated for each child, whether male or female (with the exception of the X chromosome, which is beyond the scope of this article), but each child does not receive exactly the same half of their parents’ autosomal DNA. Recombination is random.

In the four generations shown above, the green autosomal DNA of generation one, the great-grandfather, has been divided and recombined three times. The original 700,000 locations of great-grandfather’s green DNA has now been whittled down to about 87,500 locations of his green DNA.

Y-DNA in the Same Generation

Looking now at the blue Y-DNA at left, the Y-DNA remains the same in each generation with the exception of one mutation approximately every two or three generations.

As you can see in the chart, in the exact same number of generations, the Y-DNA of each male, which he inherited from his father:

  • Never recombines with any DNA from the mother
  • Never divides and gets smaller in subsequent generations
  • Remains essentially unchanged in each generation

The key word here is “essentially.”

Y-DNA

The Y chromosome consists of about 59 million locations or SNPs of DNA. STR tests, Short Tandem Repeats, which are essentially insertions and deletions, test limited numbers of carefully curated markers selected for the fact that they mutate in a genealogically relevant timeframe. These markers are combined in panels of either 67 or 111 marker tests available for purchase at FamilyTreeDNA today, or historically 12, 25, 37, 67, and 111 marker panels. The STR test was the original Y-DNA test for genealogy and is still used as an introductory test or to see if a male matches a specific line, or not.

From the STR tests, in addition to matching, FamilyTreeDNA can reliably predict a relatively high-level haplogroup, or genetic clan, based on the frequency of the combinations of those marker values in specific STR locations.

SNPs are much more reliable than STRs, which tend to be comparatively unstable, mutating at an unreliable rate, and back mutating, which can be very disconcerting for genealogy. We need reliable consistency to be able to assign a male tester to a specific lineage with confidence. We can, however, find genealogically relevant matches that may be quite important, so I never disregard STR tests or testers. STR tests aren’t relevant for deeper history, nor can they reliably discern a specific lineage within a surname. SNP tests can and do.

The Big Y-700 SNP test gives us that and more, along with the earlier Big Y-500 test which scanned about 30 million locations. The Big Y-700 is a significant improvement; men can upgrade from the Big Y-500 or STR tests.

The Big Y-700 test scans about 50 million Y-DNA locations, known as the gold standard region, for all mutations. It reports 700 or more STR markers for matching, but more importantly, it scans for all SNP mutations in those 50 million locations.

All mutations are confirmed by at least five positive repeat scans and are then assigned a haplogroup name if found in two or more men.

Y-DNA Testing

If Y-DNA remained exactly the same, then the Y-DNA of men today would be entirely indistinguishable from each other – essentially all matching humankind’s first common ancestor. With no changes, Y-DNA would not be useful for genealogy. We need inherited mutations to be able to compare men and determine their level of relatedness to each other.

Fortunately, Y-DNA SNPs do mutate. Y-DNA is never divided or combined, so it stays essentially the same except for occasional mutations which are inherited by the following generations.

Using SNP markers scanned in the Big Y test, one new mutation happens on the average of every two or three generations. Of course, that means that sometimes there are no mutations for a few generations, and sometimes there are two mutations between father and son.

What this does, though, very effectively, is provide a trail of SNP mutations – breadcrumbs essentially – that we can use for matching, AND for tracking our mutations, which equate to ancestors, back in time.

Estes Male Breadcrumb Trail

I’ve tested several Estes men of known lineage, so I’m going to use this line as an example of how mutations act as breadcrumbs, allowing us to track our ancestors back in time and across the globe.

Multiple cousins in my Estes line have taken the Big Y-700 test.

My closest male cousin matches two other men on a unique mutation. That SNP has been named haplogroup R-ZS3700.

We know, based on our genealogy, that this mutation occurred in Virginia and is found in the sons of Moses Estes born in 1711.

How do we know that?

We know that because three of Moses’s descendants have tested and all three of those men have the same mutation, R-ZS3700, and none of the sons of Moses’s brothers have that mutation.

I’ve created a chart to illustrate the Estes pedigree chart, and the haplogroups assigned to those men. So, it’s a DNA pedigree chart too. This is exactly what the Big-Y DNA test does for us.

In the red-bordered block of testers, you can see the three men that all have R-ZS3700 (in red), and all are sons of Moses born in 1711. I have not typed the names of all the men in each generation because, for purposes of this illustration, names aren’t important. However, the concept and the fact that we have been able to connect them genealogically, either before or because of Y-DNA testing, is crucial.

Directly above Moses born in 1711, you can see his father Abraham born in 1647, along with Moses’ brothers at right and left; John, Richard, Sylvester, and Elisha whose descendants have taken the Big Y-700 test. Moses’s brothers’ descendants all have haplogroup R-BY490 (in blue), but NOT R-ZS3700. That tells us that the mutation responsible for R-ZS3700 happened between Abraham born in 1647, and Moses born in 1711. Otherwise, Moses’s brothers would have the mutation if his father had the mutation.

Moses’s descendants also have R-BY490, but it’s NOT the last SNP or haplogroup in their lineage. For Moses’s descendants, R-ZS3700 occurred after R-BY490.

You can see haplogroup R-BY490 boxed in blue.

We know that Moses and his father, Abraham, both have haplogroup R-BY490 because all of Abraham’s sons have this haplogroup. Additionally, we know that Abraham’s father, Silvester also had haplogroup R-BY490.

How do we know that?

Abraham’s brother, Richard’s descendant, tested and he has haplogroup R-BY490.

However, Silvester’s father, Robert born in 1555 did NOT have R-BY490, so it formed between him and his son, Silvester.

How do we know that?

Robert’s other son, Robert born in 1603 has a descendant who tested and has haplogroup R-BY482, but does NOT have R-BY490 or R-ZS3700.

All of the other Eates testers also have R-BY482, blocked in green, in addition to R-BY490, so we know that the mutation of R-BY490 developed between Robert born in 1555 and his son, Silvester born in 1600, because his other son’s descendant does not have it.

Looking at only the descent of the haplogroups, in order, we have

  • R-BY482 (green) found in Robert born in 1555 and all of his descendants.
  • R-BY490 (blue) found in Silvester born in 1600 and all of his descendants, but not his brother
  • R-ZS3700 (red) found in Moses born in 1711 and all of his descendants, but not his brothers

If we had Estes men who descend from the two additional documented generations upstream of Robert born in 1555, we might discover when R-BY482 occurred, but to date, we don’t have any additional testers from those lines.

Now that we understand the genesis of these three haplogroups in the Estes lineage, what else can we discover through our haplogroup breadcrumbs?

The Discover Reports

By entering the haplogroup in the Discover tool, either on the public page, here, or clicking on Discover on your personal page at FamilyTreeDNA if you’ve taken the Big-Y test, you will see several reports for your haplogroup.

I strongly suggest reviewing each category, because they cumulatively act as chapters to the book of your haplogroup story, but we’re going to skip directly to the breadcrumbs, which is called the Ancestral Path.

The Ancestral Path begins with your haplogroup in Line 1 then lists the first upstream or parent haplogroup in Line 2. In this case, the haplogroup I entered is R-ZS3700.

You can see the estimated age of the haplogroup, meaning when it formed, at about 1700 CE. Moses Estes who was born in 1711 is the first Estes man to carry haplogroup R-ZS3700, so that’s extremely close.

Line 2, R-BY490 occurred or was born about 1650, and we know that it actually occurred between Robert and Silvester born in 1600, so that’s close too.

Scanning down to Line 3, R-BY482 is estimated to have occurred about 1500 CE, and we know for sure it had occurred by 1555 when Robert was born.

We see the parent haplogroup of R-BY487 on Line 4, dating from about 750 CE. Of course, if more men test, it’s possible that more haplogroups will emerge between BY482 and BY487, forming a new branch. Given the time involved, those men wouldn’t be expected to carry the Estes surname, as surnames hadn’t yet been adopted in that timeframe.

Moving down to Line 9, we see R-ZP18 from 2250 BCE, or about 4250 years ago. Looking at the right column, there’s one ancient sample with that haplogroup. The location of ancient samples anchors haplogroups definitively in a particular location at a specific time.

Haplogroup by haplogroup, step by step, we can follow the breadcrumbs back in time to Y-Adam, the first homo sapiens male known to have descendants today, meaning he’s the MRCA, or most recent common ancestor for all men.

Neanderthals and Denisovans follow, but their Y-DNA is only available through ancient samples. They have no known direct male survivors, but someday, maybe someone will test and their Y-DNA will be found to descend from Neanderthals or Denisovans.

Now that we know when those haplogroups occurred, how did our ancestors get from Africa 232,000 years ago to Kent, England, in the 1400s? What path did they take?

The new Globetrekker tool answers that question.

The Breadcrumb Trail

In Globetrekker, each haplogroup’s location is placed by a combination of testers’ results, their identified earliest known ancestor (EKA) country and location, combined with ancient samples, climatic factors like glaciers and sea levels, and geographic features. You can read about Globetrekker here and here.

To view the Globetrekker tool, you must sign it to an account that has taken the Big Y test. It’s a tool exclusively provided for Big-Y testers.

You can click at the bottom of your Globetrekker map to play the animated video.

Beginning in Africa, our ancestors began their journey with Y-Adam, then migrated through the Near East, South Asia, East Asia, then west through central Asia into Europe. The Estes ancestors crossed the English Channel and migrated around what is now England before settling in Deal, on the east coast.

Clicking on any haplogroup provides a description of that haplogroup and how it was placed in that location.

Enabling the option for ancient DNA shows those locations as well, near the haplogroups they represent when the animation is playing.

Clicking on the shovel icon explains about that particular ancient DNA sample, what is known, and how it relates to the haplogroup it’s connected to by a dotted line on the map.

Pretty cool, huh!!

End to End

As you can see from this example, Big Y results are an end-to-end tool.

We can use the Big Y-700 haplogroups very successfully for recent genealogy – assigning testers to specific lines in a genealogy timeframe. Some haplogroups are so specific that, without additional information, we can place a man in his exact generation, or within a generation or two.

Not shown in my Estes pedigree chart is an adoptee with a different surname, of course. We know that he descends from Moses’s line because he carries haplogroup R-ZS3700, but we are still working on the more recent generations using autosomal DNA to connect him accurately.  If more of Moses’s descendants tested, we could probably place him very specifically. Without the Big Y-700 test, he wouldn’t know his biological surname or that he descends from Moses. That’s a HUGE breakthrough for him.

There’s more about the Estes line to learn, however.

If our Estes cousins tested their brothers, uncles or other Estes males in their line, they would likely receive a more refined haplogroup that’s relevant only to that line.

Using Big-Y test results, we can place men within a couple of generations and identify a common ancestor, even when all men within a haplogroup don’t know their genealogical lineage. Using those same test results, we can follow the breadcrumbs all 50 steps back in time more than 230,000 years to Y-Adam.

End to end, the Big-Y test coupled with breadcrumbs in Discover, Globetrekker, and other amazing tools is absolutely the most informative and powerful test available to male testers for their paternal line genealogy.

These amazing innovations tracking more than 50,000 haplogroups across the globe answer the original questions about how we know.

The more people who take or upgrade to the Big Y-700 test, the more haplogroup branches will be added, and the more refined the breadcrumbs, ages, and maps will become. In other words, there’s still more to learn.

Test if you haven’t, and check back often for new matches and breadcrumbs, aka updates.

_____________________________________________________________

Follow DNAexplain on Facebook, here.

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

If you haven’t already subscribed (it’s free,) you can receive an email whenever I publish by clicking the “follow” button on the main blog page, here.

You Can Help Keep This Blog Free

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 Uploads

Genealogy Products and Services

My Book

 

Genealogy Books

  • com – Lots of wonderful genealogy research books
  • American Ancestors – Wonderful selection of genealogy books

Genealogy Research

 

 

FamilyTreeDNA DISCOVER™ Launches – Including Y DNA Haplogroup Ages

FamilyTreeDNA just released an amazing new group of public Y DNA tools.

Yes, a group of tools – not just one.

The new Discover tools, which you can access here, aren’t just for people who have tested at FamilyTreeDNA . You don’t need an account and it’s free for everyone. All you need is a Y DNA haplogroup – from any source.

I’m going to introduce each tool briefly because you’re going to want to run right over and try Discover for yourself. In fact, you might follow along with this article.

Y DNA Haplogroup Aging

The new Discover page provides seven beta tools, including Y DNA haplogroup aging.

Haplogroup aging is THE single most requested feature – and it’s here!

Discover also scales for mobile devices.

Free Beta Tool

Beta means that FamilyTreeDNA is seeking your feedback to determine which of these tools will be incorporated into their regular product, so expect a survey.

If you’d like changes or something additional, please let FamilyTreeDNA know via the survey, their support line, email or Chat function.

OK, let’s get started!

Enter Your Haplogroup

Enter your Y DNA haplogroup, or the haplogroup you’re interested in viewing.

If you’re a male who has tested with FamilyTreeDNA , sign on to your home page and locate your haplogroup badge at the lower right corner.

If you’re a female, you may be able to test a male relative or find a haplogroup relevant to your genealogy by visiting your surname group project page to locate the haplogroup for your ancestor.

I’ll use one of my genealogy lines as an example.

In this case, several Y DNA testers appear under my ancestor, James Crumley, in the Crumley DNA project.

Within this group of testers, we have two different Big Y haplogroups, and several estimated haplogroups from testers who have not upgraded to the Big Y.

If you’re a male who has tested at either 23andMe or LivingDNA, you can enter your Y DNA haplogroup from that source as well. Those vendors provide high-level haplogroups.

The great thing about the new Discover tool is that no matter what haplogroup you enter, there’s something for you to enjoy.

I’m going to use haplogroup I-FT272214, the haplogroup of my ancestor, James Crumley, confirmed through multiple descendants. His son John’s descendants carry haplogroup I-BY165368 in addition to I-FT272214, which is why there are two detailed haplogroups displayed for this grouping within the Crumley haplogroup project, in addition to the less-refined I-M223.

Getting Started

When you click on Discover, you’ll be asked to register briefly, agree to terms, and provide your email address.

Click “View my report” and your haplogroup report will appear.

Y DNA Haplogroup Report

For any haplogroup you enter, you’ll receive a haplogroup report that includes 7 separate pages, shown by tabs at the top of your report.

Click any image to enlarge

The first page you’ll see is the Haplogroup Report.

On the first page, you’ll find Haplogroup aging. The TMRCA (time to most recent common ancestor) is provided, plus more!

The report says that haplogroup I-FT272214 was “born,” meaning the mutation that defines this haplogroup, occurred about 300 years ago, plus or minus 150 years.

James Crumley was born about 1710. We know his sons carry haplogroup I-FT272214, but we don’t know when that mutation occurred because we don’t have upstream testers. We don’t know who his parents were.

Three hundred years before the birth of our Crumley tester would be about 1670, so roughly James Crumley’s father’s generation, which makes sense.

James’ son John’s descendants have an additional mutation, so that makes sense too. SNP mutations are known to occur approximately every 80 years, on average. Of course, you know what average means…may not fit any specific situation exactly.

The next upstream haplogroup is I-BY100549 which occurred roughly 500 years ago, plus or minus 150 years. (Hint – if you want to view a haplogroup report for this upstream haplogroup, just click on the haplogroup name.)

There are 5 SNP confirmed descendants of haplogroup I-FT272214 claiming origins in England, all of whom are in the Crumley DNA project.

Haplogroup descendants mean this haplogroup and any other haplogroups formed on the tree beneath this haplogroup.

Share

If you scroll down a bit, you can see the share button on each page. If you think this is fun, you can share through a variety of social media resources, email, or copy the link.

Sharing is a good way to get family members and others interested in both genealogy and genetic genealogy. Light the spark!

I’m going to be sharing with collaborative family genealogy groups on Facebook and Twitter. I can also share with people who may not be genealogists, but who will think these findings are interesting.

If you keep scrolling under the share button or click on “Discover More” you can order Y DNA tests if you’re a biological male and haven’t already taken one. The more refined your haplogroup, the more relevant your information will be on the Discover page as well as on your personal page.

Scrolling even further down provides information about methods and sources.

Country Frequency

The next tab is Country Frequency showing the locations where testers with this haplogroup indicate that their earliest known ancestors are found.

The Crumley haplogroup has only 5 people, which is less than 1% of the people with ancestors from England.

However, taking a look at haplogroup R-M222 with many more testers, we see something a bit different.

Ireland is where R-M222 is found most frequently. 17% of the men who report their ancestors are from Ireland belong to haplogroup R-M222.

Note that this percentage also includes haplogroups downstream of haplogroup R-M222.

Mousing over any other location provides that same information for that area as well.

Seeing where the ancestors of your haplogroup matches are from can be extremely informative. The more refined your haplogroup, the more useful these tools will be for you. Big Y testers will benefit the most.

Notable Connections

On the next page, you’ll discover which notable people have haplogroups either close to you…or maybe quite distant.

Your first Notable Connection will be the one closest to your haplogroup that FamilyTreeDNA was able to identify in their database. In some cases, the individual has tested, but in many cases, descendants of a common ancestor tested.

In this case, Bill Gates is our closest notable person. Our common haplogroup, meaning the intersection of Bill Gates’s haplogroup and my Crumley cousin’s haplogroup is I-L1195. The SNP mutation that defines haplogroup I-L1145 occurred about 4600 years ago. Both my Crumley cousin and Bill Gates descend from that man.

If you’re curious and want to learn more about your common haplogroup, remember, you can enter that haplogroup into the Discover tool. Kind of like genetic time travel. But let’s finish this one first.

Remember that CE means current era, or the number of years since the year “zero,” which doesn’t technically exist but functions as the beginning of the current era. Bill Gates was born in 1955 CE

BCE means “before current era,” meaning the number of years before the year “zero.” So 2600 BCE is approximately 4600 years ago.

Click through each dot for a fun look at who you’re “related to” and how distantly.

This tool is just for fun and reinforces the fact that at some level, we’re all related to each other.

Maybe you’re aware of more notables that could be added to the Discover pages.

Migration Map

The next tab provides brand spanking new migration maps that show the exodus of the various haplogroups out of Africa, through the Middle East, and in this case, into Europe.

Additionally, the little shovel icons show the ancient DNA sites that date to the haplogroup age for the haplogroup shown on the map, or younger. In our case, that’s haplogroup I-M223 (red arrow) that was formed about 16,000 years ago in Europe, near the red circle, at left. These haplogroup ancient sites (shovels) would all date to 16,000 years ago or younger, meaning they lived between 16,000 years ago and now.

Click to enlarge

By clicking on a shovel icon, more information is provided. It’s very interesting that I-L1145, the common haplogroup with Bill Gates is found in ancient DNA in Cardiff, Wales.

This is getting VERY interesting. Let’s look at the rest of the Ancient Connections.

Ancient Connections

Our closest Ancient Connection in time is Gen Scot 24 (so name in an academic paper) who lived in the Western Isles of Scotland.

These ancient connections are more likely cousins than direct ancestors, but of course, we can’t say for sure. We do know that the first man to develop haplogroup I-L126, about 2500 years ago, is an ancestor to both Gen Scot 24 and our Crumley ancestor.

Gen Scot 24 has been dated to 1445-1268 BCE which is about 3400 years ago, which could actually be older than the haplogroup age. Remember that both dating types are ranges, carbon dating is not 100% accurate, and ancient DNA can be difficult to sequence. Haplogroup ages are refined as more branches are discovered and the tree grows.

The convergence of these different technologies in a way that allows us to view the past in the context of our ancestors is truly amazing.

All of our Crumley cousin’s ancient relatives are found in Ireland or Scotland with the exception of the one found in Wales. I think, between this information and the haplogroup formation dates, it’s safe to say that our Crumley ancestors have been in either Scotland or Ireland for the past 4600 years, at least. And someone took a side trip to Wales, probably settled and died there.

Of course, now I need to research what was happening in Ireland and Scotland 4600 years ago because I know my ancestors were involved.

Suggested Projects

I’m EXTREMELY pleased to see suggested projects for this haplogroup based on which projects haplogroup members have joined.

You can click on any of the panels to read more about the project. Remember that not everyone joins a project because of their Y DNA line. Many projects accept people who are autosomally related or descend from the family through the mitochondrial line, the direct mother’s line.

Still, seeing the Crumley surname project would be a great “hint” all by itself if I didn’t already have that information.

Scientific Details

The Scientific Details page actually has three tabs.

The first tab is Age Estimate.

The Age Estimate tab provides more information about the haplogroup age or TMRCA (Time to Most Recent Common Ancestor) calculations. For haplogroup I-FT272214, the most likely creation date, meaning when the SNP occurred, is about 1709, which just happens to align well with the birth of James Crumley about 1710.

However, anyplace in the dark blue band would fall within a 68% confidence interval (CI). That would put the most likely years that the haplogroup-defining SNP mutation took place between 1634 and 1773. At the lower end of the frequency spectrum, there’s a 99% likelihood that the common ancestor was born between 1451 and 1874. That means we’re 99% certain that the haplogroup defining SNP occurred between those dates. The broader the date range, the more certain we can be that the results fall into that range.

The next page, Variants, provides the “normal” or ancestral variant and the derived or mutated variant or SNP (Single Nucleotide Polymorphism) in the position that defines haplogroup I-FT272214.

The third tab displays FamilyTreeDNA‘s public Y DNA Tree with this haplogroup highlighted. On the tree, we can see this haplogroup, downstream haplogroups as well as upstream, along with their country flags.

Your Personal Page

If you have already taken a DNA test at FamilyTreeDNA, you can find the new Discover tool conveniently located under “Additional Tests and Tools.”

If you are a male and haven’t yet tested, then you’ll want to order a Y DNA test or upgrade to the Big Y for the most refined haplogroup possible.

Big Y tests and testers are why the Y DNA tree now has more than 50,000 branches and 460,000 variants. Testing fuels growth and growth fuels new tools and possibilities for genealogists.

What Do You Think?

Do you like these tools?

What have you learned? Have you shared this with your family members? What did they have to say? Maybe we can get Uncle Charley interested after all!

Let me know how you’re using these tools and how they are helping you interpret your Y DNA results and assist your genealogy.

_____________________________________________________________

Follow DNAexplain on Facebook, here or follow me on Twitter, here.

Share the Love!

You’re always welcome to forward articles or links to friends and share on social media.

If you haven’t already subscribed (it’s free,) you can receive an email whenever I publish by clicking the “follow” button on the main blog page, here.

You Can Help Keep This Blog Free

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 Uploads

Genealogy Products and Services

My Book

Genealogy Books

Genealogy Research