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

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

  • Celebrating DNA
  • Sales

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

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

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

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

The Beginning – Mitochondrial DNA

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

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

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

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

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

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

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

Courtesy FamilyTreeDNA

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

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

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

click to enlarge graphics

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

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

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

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

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

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

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

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

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

1981 Was Just the First Baby Step

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

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

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

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

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

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

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

DNA Day Sales

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

FamilyTreeDNA

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

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

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

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

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

MyHeritage

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

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

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

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

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

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

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

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

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Disclosure

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

Thank you so much.

DNA Purchases and Free Transfers

Genealogy Products and Services

Books

Genealogy Research

11 thoughts on “DNA Day: Forty Years On and We’re Still Shaking The Tree!

  1. I can’t seem to get to anyplace that talks about discounts on upgrades. I started from your link ” upgrades are on sale” but that only brought up the initial kits. Then I clicked on ADD ONS & UPGRADES but the only upgrades I saw were snip packs. Are things like Y37 to Y111 not available until DNA day?

    • Sign in to your kit. Then in the Y DNA section with the tabs, on the right side you’ll see 111 greets out if you don’t have it. Click on that.

    • Also, if you don’t see it in upgrades, look under the add ins tab. I have no idea why there are 2 tabs.

      • I’m not quite sure what “tabs” you are referring to. I also assume you meant “greyed out” in your first message. It was greyed out for the kit I was looking at but clicking on Y111 just brought up the same page I saw earlier which offered Maternal testing, SNP packs and Partner Services. From there I clicked on Add Ons which just brought the same page up again.

  2. I successfully upgraded my son’s 111 test to Big Y through your link, and it gave me the discount, I think? The link does work.

    Now maybe we can find out if our surname is Taylor or Tyler, and some other interesting things.

  3. I had my brother tested for his mtDNA to have my mother’s and my female cousin tested for mtDNA to have my father’s. Her mother was his sister. Is their mtDNA automatically part of the Million Mito project or do I have to do something to submit them or make sure they are included?

    • As long as they have taken the full sequence, at FTDNA the sequence will be included. You don’t need to do anything else.

  4. Roberta, I have a question with FTDNA did in Origins version 3. We have DNA verified every close line on on our family line to follow our paper work. All of it follows our family history and our paper trail. We are of in majority Spanish origins, with smaller proportions of Native American etc.. Our family lines often intermarried with each other over the centuries in the U.S. and in Mexico to keep money and land in the family. Now I am seeing our Spanish disappear on FTDNA to be replaced by Slavic in the new version 3. We do have Jewish Sephardic roots and distant Belgian roots however ZERO Slavic roots. We have no recent ties to Europe in fact. Our family has been in the New World since the early 1600’s some before NONE that are more recent than the early1700’s into Mexico. So, why is FTDNA removing most of our Spanish heritage and replacing it with Slavic origins with no recent ties to Europe. The proportions of Slavic are almost 15%. 15% can not be accounted for in any recent ancestor. Again all of our relatives are DNA accounted for in the right proportions and follow our white paper. FTDNA is the only one picking up Slavic instead of Spanish which is what we used to have. :/ Ancestry identifies our Spanish side but this change in FTDNA really has me scratching my head. Could be our Jewish origins that entered Mexico over the centuries if so how can they be still showing this if they identify themselves in every record and book written on them as being Spanish Conversos? I am noticing this Slavic DNA popping up in other Spanish origin people we are related to as well in this new version.. has anyone mentioned this new Slavic change in FTDNA? Thanks Roberta

    • I have not seen this mentioned, but I will forward the comment. It would be useful if you provide that feedback to FTDNA along with your kit number.

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