Big News! Probable Native American Haplogroup Breakthrough

We are on the verge of another new and very exciting discovery, but we need funding to finish the research.  Let me tell you about what’s going on and maybe you’ll decide to be a part of this new discovery by making a contribution.

It’s not everyday that someone gets the opportunity to make a significant contribution to scientific discovery.  But you have that opportunity today.

I believe a new Native American haplogroup has been discovered.  We have strong evidence, but we need to finish testing on a group of people for the final proof.  People whose DNA results qualify for testing have been notified, and several are ready and willing to have their results upgraded, but don’t have the funding.  I’ve funded some, and I’ve used contributed funds I’ve squirreled away from past donations, and now I’m reaching out in the hopes that together we can collaboratively make this happen.

Most of you know that I’m a long time researcher in both the genetic genealogy and Native American fields, particularly where they intersect.  I’ve being involved with genetic genealogy since the beginning and am tri-racial myself, descended from multiple Native ancestors and tribes.  I write the Personal DNA Reports for Family Tree DNA, own and write the free blogs, and   You can verify anything in this article directly with Bennett Greenspan, the President of Family Tree DNA at  In fact, Bennett is both aware and supportive of this DNA testing endeavor and has offered reduced test pricing for a short time to facilitate this discovery process.

By the way, this is not the first time this has happened.  I was also involved with a similar discovery in December 2010.  You can read about that discovery at this link.

Ok, now that you know who I am and why I care, let me tell you about the discovery.

Discovery of a New Native American Haplogroup

To date, only 5 female Native American base haplogroups, or clans, have been discovered.   A, B, C, D and X.  Within these haplogroups are subgroups, and not all subgroups in each haplogroup are Native American.  Some are Asian and European.  In fact, in haplogroup A, which is the haplogroup being studied in this project, only subgroup A2 has been confirmed to be Native American – until now.

Recently, I was working with a client’s DNA, writing a Personal DNA Report, and I realized, based on her information and that of some of the people she matched, that a subgroup of haplogroup A4 is also very likely Native American.

For Native American history, this is a big discovery.  But we need more information.  We need to proof.  How can we do that?

Advanced Testing

We need to test people in haplogroup A who are predicted to fall into this new Native American haplogroup at the full sequence level.  Mitochondrial DNA testing falls into three levels.  The highest level, the full sequence level is the one that tests the entire mitochondria and is required to obtain a full haplogroup assignment.  In other words, if you don’t test the full sequence, you’ll know that you are haplogroup A, but you’ll never know if you are A2, A4 or A10 for that matter.

Of people who have tested only at the lower levels, we have identified a small group of people who we believe will test to be haplogroup A4 or a subgroup based on some specific mutations.  Bennett Greenspan has offered discount testing for the upgraded test through July 5th.

Some people have been able to pay for their own upgrade, but not all, and I certainly don’t want the lack of funds to impede the discovery and proof of a new haplogroup.  This is akin to raising the history of this group of Native people from the dead, from the dust where some of our history and people have been lost until now.

We need several hundred dollars in total.  If everyone that we’d like to test participates, it will cost more than $2000.  You can contribute directly to the haplogroup A4 mtDNA project at Family Tree DNA and the funds will be used directly for this testing.  Every little bit helps – no amount is too small.  You can contribute in memory of someone, anonymously, or however you wish.

In a few months, we’ll let you know the outcome of this testing and what we discover, right here.  I can hardly wait!

Thank you in advance for your support.

Roberta Estes



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55 thoughts on “Big News! Probable Native American Haplogroup Breakthrough

  1. Hi Roberta, I just contributed some funding for your MtDNA Hg A Native American project. Just to remind folks that there “Native Americans” are included in BOTH continents of North America and South America. The South American continent and NA Populations IMHO are more exciting than the North American continent and NA Populations.

    There is much work to be done by Citizen Scientists & Professional Scientists in the Southern Cone of South America which includes Chile and Argentina. FTDNA, 23andme, and other DTC companies are weak or non existent in their marketing efforts there. The Hg C Native Americans in South America had one of the longest distance migratory routes in the world over 60,000 years (~ 2500 Generations) from the Caspian Sea to Beringia then down the Pacific Coast to Tierra Del Fuego in Chile. BTW, I am sure you know that the Archeological site in MonteVerde in Chile is older than Clovis site in New Mexico. Chile is the “New Clovis” and offers tons of “Native American” genetic discoveries.

    I am presently partly funding an Archaeologist in Chile. I am also working with an Italian Geneticist and a Chilean Geneticist on a similar Full Sequence MtDNA project in Chile involving the redefined Haplogroup C1b13 and subgroups under it which includes various Native American tribal groups including the Mapuche – Picunche – Huilliche. If funds can be raised, we would like to do an initial run of about 100 Full Sequence MtDNA tests. At $200 a pop wholesale that’s,about $20K for the MtDNA and even more considering Y-DNA and Autosomal DNA which are also part of the research plan. So, if you collect in excess of your $2K … would you consider funding some of this Chilean Project? You probably already know this …but the MtDNA mutation at node 16311 for all 4 testees in your project is non informative and 16311 is a known mutational hotspot across various Native American MtDNA Haplogroups.

    • Hi George, I saw your note with your contribution and found it very interesting. I’m glad there is more testing going on within hap C as well. We still have so much to learn. I’m glad you’re at least partially funded and I’m also glad to see autosomal being taken into consideration as well. I’ll be interested to see how you use it and the two together. The A4 project is much smaller than yours. I don’t think there are 100 A4s identified in both Americas:) Thank you for your contribution. Roberta

    • I’m very interested in this. I was born in Argentina and my maternal haplogroup is C1d as tested by 23andme. I’m now waiting for my FTDNA mtDNA (full sequence) results. I know that each of these two companies uses a different denomination for certain haplogroups, so I don’t know what will come out. I have 20% Native American ancestry in the autosomal test. What puzzles me is that when I run my raw data at Gedmatch on the projects such as Oracle world 22, etc, all the native populations that come up are mainly from North and Central America, and those from South America are Karitiana and others from Brazil, far from whre. I was born. Now, I was born in a territory that the Mapuche people has historically claimed as their own and where their presence has always been very strong. Why doesn’t their tribe show up in my ancestry is intriguing. Maybe not enough people with this known ancestry have been tested? Many mapuche have been given up for adoption into families of European (mainly Spanish) descent in Argentina in the past centuries, sometimes unwillingly, and their descendants may be unaware they have that ancestry. To complicate matters further, I myself am adoptive with no information about my birth family. In Argentina, NGOs grouping adoptees in search for their roots estimate that there are approx. 3 million people whose adoptions are not documented (not legal adoptions). Many are willing to test and some are starting to test with FTDNA (23andme and Ancestry don’t send kits there), but it remains expensive. Maybe there’s interesting potential theere for all parties involved. I sent my raw data to Professor Doug McDonald but I haven’t heard back from him yet (I know he’s flooded with requests). Anyway, there’s so much to discover!

  2. Roberta – thanks for the opportunity to be part of this project. I am not Native American but am from the Southwest and have studies their ways. I appreciate their important contribution helping our ancestors as they settled the New World. Since moving to the East coast I have attended the Cherokee Docudrama “Unto These Hills” at Cherokee, NC several times. It is impressive.


  3. Hello, Roberta – I very much appreciate receiving all your blogs. At present I am not able to contribute to this project. However, I recently sold my home and “bought down” in order to be better able to devote my time & resources more fully to genetic genealogy. My move will be completed by August 20. Until then I’m in a “holding pattern” but if the opportunity is still available at that time I would be willing to donate to enable one person of the probable Native American haplogroup, (who can’t otherwise afford it), to be tested at the current prices. Please let me know if that’s doable. Thank you, Bonnie (Magee) Smith.

    Date: Thu, 27 Jun 2013 01:10:14 +0000 To:

    • Hi Bonnie,

      Thank you for your support on this project. When you can, there is always a project we can use funds to further. When you are ready, just let me know and I’ll let you know where I most need help at the time. Best of luck with your move. They can be so disruptive.


  4. Roberta, My brother and I tested with 23andMe and his Y Haplogroup is Q1a3*. We are confused about this since this group seems to be associated with Siberians and Native Americans. Our father traces his(and ours) surname back to England. The surname is Thornhill. I have read that this Haplogroup is also found in ~5% in the Ashkenazim. I have tested with FamilyTreeDNA but not my brother. I’m wondering if I upload his raw data to FTDNA, will it help with any Native American studies? Jody Thornhill Broocks

    • 23andMe doesn’t have the latest SNPs for haplogroup Q1a3. They were discovered at Family Tree DNA in 2010 and are available there and through the Genographic project. I would like to refer you my co-admin of haplogroup Q to discuss further. I would very much like to see you test at Family Tree DNA.

    • Jody you are a DNA match to my paternal aunt. My brother tested the same Haplogroup and we do not have any Native American, our family traces to Germany, but we do have some Ashkenazim showing up in our DNA.

  5. Hi Roberta
    I just contributed some funding for your MtDNA Hg A Native American project.
    Great study on New Native American Haplogroups.


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  8. Respectfully- I am not sure how this is ‘news’.

    If someone cares to explain this to me, I would be willing to listen, but any subclade within MTdna Hg ‘A’ is obviously simply a subclade of Hg ‘A’, and that is all that has been found here- a subclade of ‘A’.
    Calling this a “new” native american hg is not even close to accurate. Its simply a subclade of a long known CORE native american Hg (A).
    This is far from earth-shattering or even notable. No one would be remotely surprised to find a Hg A MTdna variant within a native american genetics sample.

    While whatever mutation refers to Hg A4 may be rare, but its still a Hg A sample.
    Contrary to the article, no variant or subclade of Mtdna A is native to any “European” population- this would be most likely explained as rare introgression if Mtdna Hg A were found in any in-situ, non-racially mixed european population. Mtdna A does not account for any statistically notable portion of any European ancestry.

    “Asiatic” occurances of Hg A are also not hard to explain since the native american Hg are asiatic in origin, and this is not very noteworthy. This article is basically a attempt to manufacture rarity and is not accurate on multiple counts.

    To maintain credibility in genetics you need to be accurate about what you are reporting and portray the issue factually and this is almost pure sensationalism.

    • You are incorrect. Neither haplogroup A4 nor A4a1 have ever been documented to have been found among Native Americans. Furthermore, haplogroup A IS found in Europe. You can look at the haplogroup A project map at this link to see for your self. They are the light blue balloons.

      Therefore, we are working to prove that some variants of A4 and A4a1 are Native. And just so you know, we have already found two instances of A4 documented to be from Europe, from a Jewish population. You can also see those on our haplogroup A4 project link.

      For the record, I do not deal in sensationalism. This is a very important discovery to the Native people in America and to genetics as a whole.

      • Roberta.. as I mentioned in the original comment, A4 in ‘European’ populations would almost certainly be a indication of admixture, or non-european population introgression. It would not be indicative of a native Indo-European Hg, and the two females you describe as the “European” carriers are by your own admission of Semitic genetic origin, whose ancestors merely migrated from either the Levant, Asian Steppes, etc.. at some point into Europe but were not genetically derived from Indo-Europeans.

        Suggesting that two Jewish female carriers of A4 make A4 a ‘European’ MTdna Hg is singling out a couple (almost certainly related) anecdotal cases of introgression into a European population that do not even amount to more than a fraction of 1% of the general population.

        Given that the cases you cite occur in a non-Indo European Semitic population that is not native to europe, and that commonly carries African Hg, Asiatic Hg, Iranic Hg, Caucasus Hg, etc.. its not really surprising to find that a known admixed semitic population that had settled among Indo-Europeans within Europe carries non-European or Asiatic MTdna.

        It is easily possible to find Jewish female carriers of Mtdna L (subsaharan african), but simply because their ancestors had at one point in time migrated to and resided in Europe would not make Mtdna L a ‘European’ Hg..

        Its simply a admixed non-indo european tribal population that at some point may have resided among europeans. If I move to Congo and pass on R1b-m269 to offspring there, this does not mean that the R1b-m269 is a native subsaharan african Hg.

        • But the question is for people in the Americas with haplogroup A4 is whether their ancestry is from the European group or groups – or whether their ancestors were from the Native group – if indeed there are two or more groups. In other words, the entire group here could be “European” and not Native. Making this distinction and understanding if there are mutations defining each group is very important. While we do have two Jewish samples, we are also working with people to prove A4 samples are from other non-Semitic groups in Europe – from the British Isles. It is far from cut and dried. It is a study in process. This is exactly the same issue we had with haplogroup Q as well, while both the Native and the European groups originally arose in Asia, in 2010 and subsequently, we discovered SNPs that delineate between the European and Native groups – so now they are separate sub-haplogroups. That was very important research because now when someone from the Americas tests positive for haplogroup Q, we have a tool to determine whether they are European Q or Native Q. We are hoping to do the same thing within haplogroup A.

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  10. There may be even bigger news!

    The following web articles refer to an article published recently in Science. The study implies that there is a strong possibility of finding the U haplogroup in the Native American population. The 24,000 year old juvenile’s bones found in Siberia had the mtDNA U haplogroup.

    As part of the recent study, scientists found evidence that indicates between 14-38% of Native Americans have western Eurasian origins.

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  12. I recently upgraded my MTDNA to full sequence. It was B4’5 now is R-T16189C!. I
    was under the impression it was Native American. Where can I read more about

  13. Hi Roberta,

    Your name was referred to me by a few good Search Angels,. I was adopted and found.My MTDNA is A4A1. I learned on my paternal side I am related to the Nansemend Tribe in Virginia.
    On my maternal side I have Starkweather (Conn./R.I.) and Stanton and Freeman which I”ve learned are also N.A. names.
    On Ancestry it showed that.a Wootonckuaske Pokanoket is my maternal 9thXgr.grandmother brn Mass and died in LIberia..
    I am trying to learn as much as I can about my heritage.

    Hopefully I could be of some help with this required test.
    It doesn’t show that I have any Native American on the population finder and I know I am partial Native American.

    Thank you in advance

  14. Hi Roberta,
    I am an A4a1 adult male. I have no known Native American ancestry. My mother’s maternal line extends to VanZandt (of Texas) -> Ragland (of Alabama) -> Anderson (of Tennessee) -> Jones (in late 1700s Virginia). If you need any info or have any for me please contact me.

    Scott W.

  15. I took a DNA test and I’m A2. Unforunately, i can’t contribute any donations at this moment but would volunteer for further testing of my DNA. I’d like to hear from you.

    • If you tested at Family Tree DNA, please join the A2 haplogroup project. It’s free. On your personal page, click on Projects, then “Join,” then scroll down to the mitochondrial (maternal) haplogroup projects, then click on A, then A2, then on the project link and then on join.

  16. This, is something that I had found very interesting, it helped me clear up the mystery, regarding my Ethnicity, I had done 2 DNA tests, One with Ancestry,com and the other with Thank You for helping me solve this mystery.

  17. Roberta, I am interested in Hap A10. The whole controversy with Catherine Pillard, is she European or Native. I was just told that A10 is not found in North America, just Siberia and Tibet. So how would Catherine Pillard be the only woman in France to have the haplogroup? Can you tell me where to find the latest news on A10?

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  20. I believe im native through my fathers side. I tested with 23&me and it came back 48% south Asian. please let me know if you have fubding to test new participants thank u,

    • Please see the article “Proving Native American Heritage Using DNA.” I don’t provide or sell DNA tests. I refer people to Family Tree DNA whose link is in the sidebar.

  21. After testing with Geno 2 I was found to belong to haplogroup A10. I recently sent my DNA for the full MTDNA testing, and don’t know if it will help in your research, but my results may be useful in the study.

  22. I was tested on 23 and me. It says I am B2 subgroup of B4’5 How accurate are the results from 23 and me. I have read that they are not the best and was wondering if I should test again somewhere else? I was also wondering if you have ever heard of accu metrics Viagard. They claim they can test your dna and tell you what tribe you belong to. Any input you have is very much appreciated.

  23. I am A4a1 male from South India. I am guessing there is a big range (throughout the world) of people with A4a1 maternal haplogroup.

  24. Hi Roberta,
    I come from Northwestern Greece and my maternal haplogroup is A4a1. I was told that it is rare and that it could be explained through either the Avaro-Slavic or the Turkish invasions/settlements in the area. The village I come from was a Slavic settlement of the Middle Ages and it had retained its original Slavic name until recently. I have read that the Slavic settlers of the area mixed with the local population(s) and were ultimately assimilated. The village has also been subject to Bulgarian, Serbian and Turkish invasions and settlements ever since. Besides, the area has been inhabited by Arvanites and Vlachs through the ages (my family has both of the above known origins, along with Greek). I am very intrigued in finding out more about this haplogroup, although in my case a link to the Native American branch of the subclade is rather impossible or at least, very improbable- rather a link to the East-Asian/ Siberian branch is more probable. Excuse me if I am not using the right genetic terms but I am new in this.
    I have tested with 23andme and verified the haplogroup also at Wegene. I am currently waiting for my FTDNA kit to arrive.
    Congratulations for your work and endeavors and thank you for posting this information!

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