Such wonderful news today!
We have a birth announcement, of sorts, detailed in our new paper released just today, “African mitochondrial haplogroup L7: a 100,000-year-old maternal human lineage discovered through reassessment and new sequencing.”
Woohoo, Mitochondrial Eve has a new great-granddaughter!
Back in 2018, Goran Runfeldt and Bennett Greenspan at FamilyTreeDNA noticed something unusual about a few mitochondrial DNA sequences, but there weren’t enough sequences to be able to draw any conclusions. As time went on, more sequences became available, both in the FamilyTreeDNA database and in the academic community, including an ancient sequence.
This group of sequences did not fit cleanly into the phylogenetic tree as structured and seemed to cluster together, but more research and analysis were needed.
Were these unique sequences a separate branch? One branch or several? What would creating that branch do to the rest of the tree?
Given that Phylotree, last updated in 2016, did not contain an applicable branch, what were we to do with these puzzle pieces that really didn’t fit?
These discussions, and others similar, led to the decision to launch the Million Mito Project to update the mitochondrial phylogenetic tree which is now 6 years old and seriously out-of-date. For the record, phylogenetics on this scale is EXTREMELY challenging, which is probably why Phylotree hasn’t been updated, but that’s a topic for another article, another day. Today is the day to celebrate haplogroup L7.
The Million Mito team knew there were lots of candidate haplogroups waiting to be formed near the ends of the branches of the phylotree, but what we didn’t expect was a new haplogroup near the root of the tree.
Put another way, in terms that genealogists are used to, the new branch is Eve’s great-granddaughter.
Haplogroup L now has 8 branches, instead of 7, beginning with L0. We named this new branch haplogroup L7 in order not to disrupt the naming patterns in the existing tree.
Let’s take a look.
I used the phylogenetic tree from our paper and added Eve.
Just to be clear, we aren’t talking literal daughters and granddaughters. These are phylogenetic daughters which represent many generations between each (known) branch. Of course, we can only measure the branches that survived and are tested today or are found in ancient DNA.
The only way we have of discovering and deciphering Eve and her “tree” of descendants is identifying mutations that occurred, providing breadcrumbs back in time that allow us to reconstruct Eve’s mitochondrial DNA sequence.
Those mutations are then carried forever in daughter branches (barring a back-mutation). This means that, yes, you and I have all of those mutations today – in addition to several more that define our individual branches.
You can see that Eve has two daughter branches. One branch, at left, is L0.
Eve’s daughter to the right, which I’ve labeled, is the path to the new L7 branch.
Before this new branch was identified, haplogroup L5 existed. Now, Eve has a new great-granddaughter branch L5’7 that then splits into two branches; L5 and L7.
L5 is the existing branch, but L7 is the new branch that includes a few sequences formerly misattributed to L5.
Even more exciting, the newly discovered haplogroup L7 has sub-branches too, including L7a, L7a1, L7b1 and L7b2.
In fact, haplogroup L7 has a total of 13 sublineages.
How Cool is This?!!
Haplogroup L7 is 100,000 years old. This is the oldest lineage since haplogroup L5 was discovered 20 years ago. To put this in perspective, that’s about the same time the first full sequence mitochondrial DNA test was offered to genealogists.
It took 20 years for enough people to test, and two eagle-eyed scientists to notice something unusual.
Hundreds of thousands of people have had their mitochondrial DNA tested, and so far, only 19 people are assigned to haplogroup L7 or a subgroup.
One of those people, shown as L7a* on the tree above, is 80,000 years removed from their closest relative. Yes, their DNA is hens-teeth rare. No, they don’t have any matches at FamilyTreeDNA, just in case you were wondering😊
However, in time, as more people test, they may well have matches. This is exactly why I encourage everyone to take a mitochondrial DNA test. If someone is discouraged from testing, you never know who they might have matched – or how rare their DNA may be. If they don’t test, that opportunity is lost forever – to them, to other people waiting for a match, and to science.
Are there other people out there with this haplogroup, in either Africa or the diaspora? Let’s hope so!
With so few L7 people existing today, it looks like this lineage might have been on the verge of extinction at some point, but somehow survived and is now found in a few places around the world.
One 16,000-year-old ancient DNA sample from Malawi has been reclassified from L5 to L7.
This figure from the paper shows the distribution of haplogroup L within Africa, and the figure below shows the Haplogroup L7 range within Africa, with Tanzania having the highest frequency. Malawi abuts Tanzania on the Southwest corner.
Where in the World?
Checking on the public tree at FamilyTreeDNA, you can see the new L5’7 branch with L7 and sub-haplogroups beneath.
We find L7 haplogroups in present-day testers from:
- South Africa
- United Arab Emirates
It’s also found in people who live in two European countries now, but with their roots reaching back into Africa. Surprisingly, no known African-Americans have yet tested with this haplogroup. I suspect finding the haplogroup in the Americas is just a matter of time, and testing.
The FamilyTreeDNA customers who are lucky enough to be in haplogroup L7 have had their haplogroup badges updated.
If you are haplogroup L at FamilyTreeDNA, check and see if you have a new badge.
Credit Where Credit is Due
I want to give a big shout-out to my colleagues and co-authors. Dr. Paul Maier (lead author,) Dr. Miguel Vilar and Goran Runfeldt.
I can’t even begin to express the amount of heavy lifting these fine scientists did on the long journey from initial discovery to publication. This includes months of analysis, writing the paper, creating the graphics, and recording a video which will be available soon.
I’m especially grateful to people like you who test their DNA, and academic researchers who continue to sequence mitochondrial DNA in both contemporary and ancient samples. Without testers, there would be no scientific discoveries, nor genealogy matching. If you haven’t yet tested, you can order (or upgrade) a mitochondrial DNA test here.
I also want to thank both Bennett Greenspan, Founder, and President, Emeritus of FamilyTreeDNA who initially greenlit the Million Mito Project in early 2020, and Dr. Lior Rauschberger, CEO who continues to support this research.
FamilyTreeDNA paid the open access fees so the paper is free for everyone, here, and not behind a paywall. If you’re downloading the pdf, be sure to download the supplements too. Lots of graphics and images that enhance the article greatly.
Congratulations to Mitochondrial Eve for this new branch in her family tree. Of course, her family tree is your family and mine – the family of man and womankind!
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Great work! It is always exciting to identify a previously unknown branch of the human tree. I hope someday my own Mito hg X will achieve enough FMS tests that some new branches can be identified.
My paternal grandmother is an X and my father had three variants shared with just one other person in the World on the FtDNA datebase and she is two steps away. Unfortunately she hasn’t put a country of origin so she is a real mystery. However, since my great grandmother alone there are over 30 people who carry that line and my great grandmother had sisters. So many mysteries out there waiting to be solved.
Linda, my mother’s line is FMS X2d1a of Italian origin in the 1830’s, from Lucca, west of Florance & north of Pisa. We have one other FMS match out of FT-DNA’s database, also with a genetic distance of 2, but I was lucky in that our match has been willing to talk with us and her maternal line is also Italian, but from the the 1840’s in Morciano di Romanga, south of Rimini on the Adriatic Coast. I have done some preliminary research to push her line back further and the trail leads towards the Italian town of Tarvisio, about where the present corners of Italy, Austria, and Slovenia all meet, but this research is by no means proven. The things that really frustrates me is that out of 327 HVR1 matches, only 15 have tested at FMS. And, while looking at the HVR1 level, we see two other X2d1a matches with an ancestral location of Erzsebet, Zalamegye, in Hungary. Those two don’t show up in our tests as matches, so I am assuming they are a further GD separation from us, but they are in the same general region of Southern Europe. Part of the answer (for me) lies with the remaining 312 testers who haven’t upgraded to FMS. If just a small percentage of those remaining testers upgraded, then I feel certain we would see some expansion of the X tree in the X2d1a region. Linda (& Roberta) thanks for letting me ‘preach’ from my apply cart. Linda, good luck with your own X search. -geo
Congratulations! On the birth and on your co-authorship. It must be very exciting to be at the forefront of scientific discovery.
Very much so. Thank you.
Congratulations everyone who worked on this 🎉
Thank you for posting this information, I love the science of genealogy as we watch it evolve with new testers.
Congratulations to you and your co-workers.
And many thanks to FTDNA management who agreed to pay to make the article Open Status. I read many journal articles on DNA from history. This one deserves to be free so it can be read widely.
It should give the Million Mito Project a boost. I hope it does.
You had said that the first announcement from the project would be big – and that is massive!
Thank you! So cool!!
Congratulations on the wonderful contribution to the mitochondrial DNA tree.
This is so interesting! Congratulations to you and all other involved (especially the L7 testees)! ^_^
Having your closest matches 80,000 years apart, I can’t even wrap my head around it… I can’t even pin point what was going around that time… It was Ice Age, still 60,000 before the thaw; 40,000 years before the main out of Africa migration… I’m sure specialists of the period have a lot to tell about it, fear not, but to my uneducated mind, this is so mindbowlingly old…
I notice the Y-DNA new D0 haplogroup was about the same general aera, in Eastern Africa, are these two the last hidden old branches, or is this a critically undersampled major region for haplogroup differentiation? Only time will tell.
Yes, the area is undersampled.
Wow! Has she been named yet?
Which mtDNA test service is best for privacy?
FamilyTreeDNA is the only company that provides testing and matching. That’s where you want to test.