I’m so pleased to introduce The Million Mito Project and to explain why you should join in the quest to trace the family tree of womankind. The Million Mito Project depends upon you!
I was honored to announce The Million Mito Project at RootsTech on February 29, 2020. I’m sharing my slides with you here, along with the narrative.
The Million Mito Project is a collaborative citizen science project to update the phylotree of womankind.
Team members include:
- Miguel Vilar, Lead Scientist of the National Geographic Society’s Genographic Project
- Paul Maier, Population Geneticist at FamilyTreeDNA
- Goran Runfeldt, Head of Research and Development at FamilyTreeDNA
- Roberta Estes, DNAeXplain, scientist, genetic genealogist, Genographic Project Affiliate Researcher
Genographic Project Public Participation Phase Ended
The Genographic Project was launched on April 13, 2005 as a 5-year non-profit citizen-science-fueled research project with testing performed by the lab at Family Tree DNA. Unimaginably successful, the Genographic Project celebrates its 15th anniversary in 2020. I can’t tell you what a wonderful opportunity it has been to be involved with the Genographic project from its inception, and to be a part of the next chapter in this legacy of humanity.
It’s important to note that the public participation phase of the Genographic Project came to an end in 2019, meaning that kits can no longer be purchased. The Genographic database will remain online through June 30, 2020, but will be shuttered down after that time.
If you do not retrieve your Genographic results, or transfer them elsewhere before June 30, 2020, they will no longer be available to you. You can read more, here.
Even though the public participation phase has come to an end, the scientific study continues. That’s the legacy of the Genographic Project, the gift that keeps on giving.
Every human alive carries the mitochondrial DNA inherited from their direct matrilineal line – your mother, her mother, her mother on up the tree into the mists of history.
This means that the Million Mito Project is relevant for every human living today – and carries critical genealogical and historical information passed to us from our matrilineal ancestors. Mitochondrial DNA is the one way that every human alive can see beyond the confines of records and available genealogy by using the gift of DNA that our ancestors bestowed up us.
“Discovered” is in quotes because there remains significant controversy about the fact that their discovery was predicated upon the research of Rosalind Franklin, who died and never received proper credit for her co-discovery. So really, the discovery should be credited to Watson, Crick and Franklin.
The slide above shows me standing in the doorway of the building in which this revolutionary discovery was made a few years before I was born. Ironically, it was DNA that drew me to England.
Y DNAwas the tool that allowed the US Speaks family to connect with the UK Speaks family in Lancashire through a man who had immigrated to New Zealand. Without Y DNA, the relevant deeply-buried records would not have been found, nor the genetic “glue” to tie records to people on three continents around the world, reuniting our widely-scattered family back in our ancestral homeland. Therein lies the amazing power of DNA.
Given my career choice, I absolutely had to visit the Cavendish Lab at Cambridge, a genetic “Mecca” of sorts, as well as the British Science Museum to see the infamous DNA model. This is where the DNA journey for all genetic genealogists began.
After their momentous discovery back in 1953, Watson and Crick walked the short distance to the Eagle Pub where they lunched regularly, shown above, at right, and excitedly announced to everyone within earshot that they had just discovered “the secret of life.”
Of course, 67 years ago, in the Eagle Pub, no one understood or cared.
We care, a lot, today. Beginning 20 years ago with the founding of FamilyTreeDNA, DNA fundamentally changed genealogy forever, allowing us to unravel mysteries that could never have been solved before.
Today, genealogy, genetic genealogy which focuses on the DNA aspects of genealogy and science are all inseparably intertwined. Scientific discoveries feed the genealogy and tests taken by genealogists fuel the science. It’s an infinite loop of discovery, education and unraveling.
Many times, the pieces of genealogical information we so desperately seek simply aren’t available in existing records, but we can piece together relationships and clues using the three different kinds of DNA: mitochondrial, Y DNA and autosomal. Each type of DNA has specific characteristics and provides us with unique information not obtainable any other way.
3 Kinds of DNA Address 3 Unique Challenges
Y DNA, inheritance path shown by the blue arrow above, is passed from father to son and therefore tracks back to a male’s direct patrilineal ancestors in their tree. The Y chromosome is only contributed to male children, who pass it on to their male children, not mixed with any DNA from the mother. Therefore, except for occasional mutations, Y DNA is identical from generation to generation.
The occasional mutations are what make it possible for us to use Y DNA and mitochondrial DNAas breadcrumbs, following them infinitely back into time, before records, and eventually, before written history by connecting those mutation breadcrumbs as dots.
Today, men test their Y DNA which follows the direct patrilineal line, which is the same as the surname line in western culture, although naming practices vary in different countries and parts of the world across time. Regardless, the Y DNAconnects male testers with their ancestors through their father’s, father’s, fathers’ line – in close relationships, meaning fathers and grandfathers, as well as distantly, into the history of clans and then before the advent of surnames.
In western cultures, men taking Y DNA tests expect at least some of their matches to carry the same or similar surnames, assuming other men from that line have also tested.
Only males can test for Y DNA, because only males carry a Y chromosome. Women need to ask their brothers, father, grandfather, uncles, etc. that represent the line they wish to test.
Mitochondrial DNA, inheritance path shown by the red arrows above, is passed from mothers to both sexes of their children, but only female children pass it on. Therefore, both men and women inherit their mitochondrial DNA from their mother’s direct matrilineal line. Men and women can both test for mitochondrial DNA, which reflects their mother’s, mother’s, mother’s mitochondrial DNA, on up the matrilineal line indefinitely.
In genealogical terms, mitochondrial DNA is perceived to be more difficult to use, so fewer people test, but I view mitochondrial DNA as exactly the opposite. Mitochondrial DNA represents an opportunity that cannot be afforded by other type of testing and isn’t any more difficult to use than autosomal.
The surname changes in each generation, but the DNA provides us with a rock-solid path to those common matrilineal ancestors, if people would simply test and upload their trees. Mitochondrial DNA has the potential to, and does OVERCOME the challenges surname changes in a way that no other tool can. The answers are written in our mitochondrial DNA along with the mitochondrial DNA of all of the people who descend from that female ancestor through all women to the current generation, which can be male or female.
When discouraging people from mitochondrial testing by telling them not to bother because it’s hard to use, the genealogical community actually perpetuates the problem. Here’s a wonderful series about how to understand and utilize mitochondrial DNA.
If EVERYONE would test their mitochondrial DNA, we would be breaking through brick walls at lightning speed. Mitochondrial DNA isn’t difficult because it’s harder to use, it’s difficult because not enough people have tested.
The surnames in autosomal lines are different from that of the tester too, yet genetic genealogists don’t hesitate for one second to take an autosomal test where they will need to build out trees to attempt to determine which line their matches connect through. The great news about mitochondrial DNA is that you already know which line the connection is through – your matrilineal line.
Mitochondrial DNA and Y DNA provide laser-sighted focus on the history of one specific line, reaching deeply back in time with no admixture from the other parent. Autosomal DNA is broad, but not deep, because it is divided in half in each generation as it’s passed from parent to child.
Autosomal DNA, the third kind of DNA testing is the Family Finder test at Family Tree DNA, or the MyHeritageDNA, AncestryDNA and 23andMe tests which provide matches to people from all of our genealogical lines. In the graphic above, I’ve represented autosomal DNA by the broken green arrow, indicating that autosomal provides matches and links to some of the people who descend from common ancestors, but not all.
In each generation, autosomal DNA is divided in half, meaning that each person receives half of their mother’s and half of their father’s autosomal DNA. We match all of our first and second cousins, but only about 90% of our third cousins who descend from our common great-great-grandparents, in the green arrow generation. As we move further back in time generationally, we match fewer and fewer of the people who descend from common ancestors.
Therefore, I classify autosomal DNA as broad, meaning we match descendants from more than one line, but not deep, because it only positively reaches back 3 generations, often reaches back about 5 or 6 generations, but generally not more than 9 or 10 generations. The ONLY way to see back further in time than autosomal matching is Y and mitochondrial DNA.
Y and mitochondrial DNA is deep, meaning we each match only one line for each type of DNA, reaching very far back in time, but not broad. Therefore, in order to “collect” the Y and mitochondrial DNA of each of our ancestors, we need to find the appropriate cousins to test to provide us with that information.
What Can Y and Mitochondrial DNA Do for Us?
Fortunately, Y and mitochondrial DNA have the ability to help us with close relatives and matches as well as more distant history.
Y and mitochondrial DNA both have the ability to:
- Assist us genealogically to connect in recent generations utilizing surnames, trees and geography
- Facilitate identification of each lineage further back in time by utilizing full haplogroups
- Provide us with the ability to view the geographic locations of the earliest known ancestors of our matches on our Matches Map at Family Tree DNA which can provide clues as to the identity of common ancestors
- Document our ancestors’ migrations and locations where haplogroup clusters are found throughout the world
- Identify the “ethnicity” of those ancestors by haplogroups that occur only in specific portions of the world (like the Americas), or unique populations (such as Jewish people.)
- Granular personal haplogroup allowing testers to use the public Y tree and public mitochondrial tree.
Trees of Mankind and Womankind
Aside from our own personal genealogy, Y and mitochondrial DNA testing, tracking those mutations back in time, has scribed the history of the migration of mankind – and womankind – which means it tells us where our ancestors came from, and went.
On the map at left, the basic Y DNA haplogroups are shown expanding out of Africa, into the Middle East and then into Europe, Asia, the Pacific Islands and Americas. Think of haplogroups as large genetic clans, defined by mutations that group us together, and separate us apart as well.
Mitochondrial DNA haplogroups followed the same paths of course. Different locations in the world have specific haplogroups further broken down into sub-haplogroups associated with general geographic locations.
It’s testing by many people, citizen scientists and genealogists, people just like you, that have allowed scientists to define these haplogroups and their migration paths across the world. We still continue to discover, define and refine that pathway today. We’ve only seen the tip of the iceberg. Our knowledge is ever-changing and expanding. There’s so much more to learn. That’s why we’ve launched The Million Mito Project.
Connecting the Dots Using Mutations
How do scientists, and genealogists, connect those dots from today’s testers to their ancestors?
Mutations, called SNPs, single nucleotide polymorphisms, occur at a specific point in time and the resulting variant (mutated value) is then passed to all of the descendants of the person in whose DNA they occurred.
These haplogroup-defining mutations accumulate over time to form twigs, then branches, then the haplotree backbone as we move further back in time. On the slide below:
- Branches – green and magenta dots
- Twigs – white, yellow and grey dots
- Leaves – teal, violet (line 10) and black dots
In this example, the progenitor is shown as a male, but the concept is the same for any mutation.
- The progenitor has two sons, “Line 1” and Line 2.”
- A magenta mutation occurred between the father and son in “Line 1”, and you can see that it’s passed to every descendant of “Line 1.”
- A green mutation occurred between the father and son in “Line 2”, which is also passed to all of Line 2’s descendants.
- “Line 3” had a white mutation, which was passed to his descendants.
- “Line 6” had a grey mutation which was passed to his descendants, and so forth.
In real life, mutations generally don’t accrue this rapidly, but the compressed time in this illustration makes the generational inheritance of mutations easy to see.
In both Y and mitochondrial DNA, SNPs are what form branches of the tree. In our case, the progenitor would be the trunk, Line 1 and Line 2 would be major branches, and with each succeeding SNP generation, smaller branches and twigs being created. Multiply this mutation process over hundreds and thousands of years to construct the Y tree of mankind and the mitochondrial tree of womankind.
The Explosive Expansion of the Y DNA Tree
In the past decade, great strides have been made in fleshing out the Y DNA tree.
- In 2010, only 441 branches, known as haplogroups, existed on the Y DNA tree.
- In July 2012, when the Genographic version 2 was released, the Y tree had 850 branches. The Geno 2.0 custom chip tested more than 12,000 locations on the Y chromosome with the hope of dramatically expanding the Y DNA haplotree.
- By November 2013, Family Tree DNA and the Genographic Project had jointly expanded the tree from about 850 SNPS, or haplogroups, to over 6200, of which 1200 were “terminal SNPs,” which were end-of-line SNPs in 2013. Those were the “leaves” terminating branches at that time, but most of those branches now have leaves on their twigs beneath them today.
- As of February 2020, there are more than 26,600 individual tree branches identified and named on the FamilyTreeDNA public Y DNA tree, available here, with another half million Y mutations identified, waiting for additional testers to confirm their SNP status by matching. At that time, the mutation can be given a SNP name and placed in their proper location on the Y tree, sometimes as a new leaf or occasionally, splitting an existing branch.
The key to this success has been thousands of men purchasing the Big Y test at Family Tree DNA with the hope of learning more about their paternal genealogy; first the Big Y, then the Big Y-500 and then in 2019 upgrading to the Big Y-700 with significantly increased capabilities.
Every tester can see their place on the Y block tree on their personal page, along with their matches.
Mitochondrial DNA Tree
However, mitochondrial DNA has been neglected. The goal of the Million Mito Project is to change that.
In March 2017, FamilyTreeDNA updated to mitochondrial DNA Build 17 of the mitochondrial tree which included 5437 haplogroups extracted from just under 25,000 sequences. Family Tree DNA created an easily accessible public tree, here, complete with geographic locations for testers assigned to each haplogroup.
To date, the various mitochondrial builds have been created using GenBank submissions, but the majority of testers don’t upload their results to GenBank.
The Genographic Project and FamilyTreeDNA databases together hold more than half a million full sequence mitochondrial tests, far more than the 25,000 utilized for Build 17.
What is a Full Mitochondrial DNA Sequence?
Mitochondrial DNA is comprised of 16,569 locations in total. Initial DNA testing was expensive, so the mitochondria was divided into three regions for testing, analogous to a clock face:
- HVR1 (hypervariable region 1) – think of this area as 5 till the hour until the hour (5 minutes)
- HVR2 (hypervariable region 2) – think of this as the hour until 5 after the hour (5 minutes)
- Coding region (CR) – think of this as the space between 5 after the hour to 5 till the hour (50 minutes)
All three regions together, meaning the entire clock face, is known as the full mitochondrial sequence, or FMS.
In order to obtain a complete haplogroup designation, one must test the entire mitochondrial sequence, all 16,569 locations. The full sequence is also necessary for maximum genealogical usefulness.
Tests like 23andMe and LivingDNA provide testers with a base haplogroup as part of an autosomal test by testing a subset of approximately 1200 mitochondrial locations known to define the upper branches of the mitochondrial haplotree. I wrote about the differences, using examples, here.
There is nothing wrong with those tests, as far as they go, but they aren’t useful except as an exclusion for genealogy. In other words, if you are estimated to be haplogroup J1c, you clearly aren’t related on that line to someone that’s H1a. You may or may not be related in hundreds or thousands of years to someone else who is estimated as haplogroup J1c. You need both a full haplogroup designation, which in my case is J1c2f, and matching to make that determination. You can only receive those features by testing your full mitochondrial sequence at FamilyTreeDNA.
For mitochondrial DNA to be relevant for genealogy, or science, every location must be tested and matched to other testers. To do otherwise is analogous to having only a few of the words in your ancestor’s will and attempting to draw conclusions from only a small portion of the available data.
Full sequence mitochondrial DNA tests benefit genealogy and science too. Better yet, mitochondrial DNA gives us something to work with when we’ve exhausted all records and we have nothing else available.
Estimates today are that at least 30 million people have taken autosomal tests for genealogy, yet less than a million have taken a mitochondrial DNA test.
When autosomal testing was new, close matches were seldom found, but as the number of testers increased, it became common to find close matches of family members you didn’t realize were testing – or close relatives you don’t know. In other words, the usefulness of these tests is in direct proportion to the number of people who test.
Approximately 2% of autosomal testers have taken full mitochondrial sequence tests. Imagine how many brick walls would come crashing down if all testers, male and female, tested their mitochondrial DNA AND provided trees.
We have many examples of success stories today, even with limited testing. People discover that their ancestors were Native American, or not, Jewish, or not, African, or not. They discover their ancestor’s siblings along with breadcrumbs connecting records and people in two places as descendants of the same family.
Sometimes mitochondrial DNA is all we have when a woman’s surname is missing. But guess what – before you can be successful – you have to test. It pains me greatly to hear well-intentioned but misinformed people discouraging potential test takers.
The Million Mito Project will benefit testers in the following ways:
- Additional testers and matches
- Adding to and refining the haplotree which results in providing more useful genealogical information between matches
- Identification of and naming many new haplotree branches
- Aging and dating of the branches of the mitochondrial haplotree, enabling groups of testers to estimate when their most recent common ancestor lived
Comparing my own results to those of my closest matches, and those of individuals within the projects I administer that have authorized me to view their full sequence results, I can see that many groups of people exist that share common mutations and likely qualify to become a sub-haplogroup.
As with the Y-DNA tree, FamilyTreeDNA and the Genographic Project are in the best position, collaboratively, to combine forces to rewrite the tree of womankind. Given that 25,000 samples resulted in 5,000 haplogroups previously, I can only imagine the impact of one million testers.
Will you be part of that million?
Here’s how you can participate.
- If you tested with the Genographic Project before November of 2016, you can transfer your results to FamilyTreeDNA, for free, by clicking here, then “Upload DNA Data,” then click on “Nat Geo’s Geno 2.0 DNA,” shown below.
The Genographic version 1 and 2 results are partial, not full sequence, and after transferring you will be able to upgrade to the full sequence level.
- If you tested with the Genographic Project after November 2016, your test was run in a different lab, on a different chip platform, and you cannot transfer your results to FamilyTreeDNA.
- If you opted-in to anonymous research through the Genographic Project, your results will be included. If not, you can still participate by purchasing a full sequence test at FamilyTreeDNA and you’ll receive genealogical matching as well.
- If you tested with Genographic after November 2016 and don’t know if you opted-in to research through the Genographic project, but you would like to, please contact Dr. Miguel Vilar at firstname.lastname@example.org. If you tested before November 2016, simply transfer your results to FamilyTreeDNA as described above.
- If you tested directly at Family Tree DNA at the HVR1 or HVR2 level which is called the “Plus” test, you can upgrade to the full sequence level by signing on to your account and clicking on “Full” to upgrade.
- If you’ve tested at FamilyTreeDNA at the full sequence level, there’s nothing to purchase. You’re all set – and thank you!
- To verify your testing level at FamilyTreeDNA, sign on to your FamilyTreeDNA account to verify that the “Full” icon is red.
Million Mito Genographic Transfer and Participation Summary
I’ve created a grid to summarize the three Genographic test types and how each can participate in The Million Mito Project. None of the Genographic results will be available to testers or to transfer after June 30, 2020.
|Genographic Test Type||Date||Participate in Million Mito Project?||FTDNA Transfer available (before June 30, 2020)||What Transfers?||Upgrade Needed to Full Sequence?|
|Geno 1||2005-2015||Yes, via transfer||Yes||HVR1 values||Yes|
|Geno 2||July 2012-Nov 2016||Yes, via transfer||Yes||Partial haplogroup SNPs only||Yes|
|Geno 2 Next Generation||Nov 2016-2019 (tested through Helix)||Through Genograhic, only if opted- in to Genographic Research, otherwise test at Family Tree DNA||No||Transfer not available||Order full sequence test from FTDNA to obtain matching and other benefits|
Family Tree DNA Participation Summary
|Test Type||Participate in Million Mito Project?||Upgrade Needed to Full Sequence?|
|HVR1, HVR2||Yes, need upgrade||Yes|
|Full Mitochondrial Sequence (FMS)||Yes||No upgrade needed|
Be One in a Million
Science needs you.
Your ancestors are waiting to be found.
Will you join us in the quest to advance science while solving the mystery of your ancestors by taking or upgrading to a full sequence mitochondrial DNA test?
Become a part of history. Click here to test, upgrade or transfer your mitochondrial results, today!
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Thank you so much.
DNA Purchases and Free Transfers
- FamilyTreeDNA – Y, mitochondrial and autosomal DNA testing
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