Native American Gene Flow – Europe?, Asia and the Americas

Posted on November 22, 2013 by Roberta Estes

Pre-release information from the paper, “Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans” which included results and analysis of DNA sequencing of 24,000 year old skeletal remains of a 4 year old Siberian boy caused quite a stir. Unfortunately, it was also misconstrued and incorrectly extrapolated in some articles. Some people misunderstood, either unintentionally or intentionally, and suggested that people with haplogroups U and R are Native American. That is not what either the prerelease or the paper itself says. Not only is that information and interpretation incorrect, the paper itself with the detailed information wasn’t published until November 20^th, in Nature.

The paper is currently behind a paywall, so I’m going to discuss parts of it here, along with some additional information from other sources. To help with geography, the following google map shows the following locations: A=the Altai Republic, in Russia, B=Mal’ta, the location of the 24,000 year old skeletal remains and C=Lake Baikal, the region from where the Native American population originated in Asia.

Nature did publish an article preview. That information is in bold, italics and I will be commenting in nonbold, nonitalics.

The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians^{1, 2, 3}, there is no consensus with regard to which specific Old World populations they are closest to^{4, 5, 6, 7, 8}. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal’ta in south-central Siberia⁹, to an average depth of 1×. To our knowledge this is the oldest anatomically modern human genome reported to date.

Within the paper, the authors also compare the MA-1 sequence to that of another 40,000 year old individual from Tianyuan Cave, China whose genome has been partially sequenced. This Chinese individual has been shown to be ancestral to both modern-day Asians and Native Americans. This comparison was particularly useful, because it showed that MA-1 is not closely related to the Tianyuan Cave individual, and is more closely related to Native Americans. This means that MA-1’s line and Tianyuan Cave’s line had not yet met and admixed into the population that would become the Native Americans. That occurred sometime later than 24,000 years ago and probably before crossing Beringia into North America sometime between about 18,000 and 20,000 years ago.

The MA-1 mitochondrial genome belongs to haplogroup U, which has also been found at high frequency among Upper Palaeolithic and Mesolithic European hunter-gatherers^{10, 11, 12}, and the Y chromosome of MA-1 is basal to modern-day western Eurasians and near the root of most Native American lineages⁵.

The paper goes on to say that MA-1 is a member of mitochondrial (maternal) haplogroup U, very near the base of that haplogroup, but without affiliation to any known subclade, implying either that the subclade is rare or extinct in modern populations. In other words, this particular line of haplogroup U has NOT been found in any population, anyplace. According to the landmark paper, “A ‘‘Copernican’’ Reassessment of the Human Mitochondrial DNA Tree from its Root,” by Behar et al, 2012, haplogroup U itself was born about 46,500 years ago (plus or minus 3.200 years) and today has 9 major subclades (plus haplogroup K) and about 300 branching clades from those 9 subclades, excluding haplogroup K.

The map below, from the supplemental material included with the paper shows the distribution of haplogroup U, the black dots showing locations of haplogroup U comparison DNA.

In a recent paper, “Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity” by Brandt et al (including the National Geographic Consortium) released in October 2013, the authors report that in the 198 ancient DNA samples collected from 25 German sites and compared to almost 68,000 current results, all of the ancient Hunter-Gatherer cultural results were haplogroup U, U4, U5 and U8. No other haplogroups were represented. In addition, those haplogroups disappeared from the region entirely with the advent of farming, shown on the chart below.

So, if someone who carries haplogroup U wants to say that they are distantly related to MA-1 who lived 24,000 years ago who was also related to their common ancestor who lived sometime prior to that, between 24,000 and 50,000 years ago, probably someplace between the Middle East where U was born, Mal’ta, Siberia and Western Europe, they would be correct. They are also distantly related to every other person in the world who carries haplogroup U, and many much more closely that MA-1 whose mitochondrial DNA line is either rare as chicken’s teeth (i.e. never found) or has gone extinct.

Let me be very clear about this, there is no evidence, none, that mitochondrial haplogroup U is found in the Native American population today that is NOT a result of post-contact admixture. In other words, in the burials that have been DNA tested, there is not one example in either North or South America of a burial carrying mitochondrial haplogroup U, or for that matter, male Y haplogroup R. Native American haplogroups found in the Americas remain subsets of mitochondrial haplogroups A, B, C, D and X and Y DNA haplogroups C and Q. Mitochondrial haplogroup M has potentially been found in one Canadian burial. No other haplogroups have been found. Until pre-contact remains are found with base haplogroups other than the ones listed above, no one can ethically claim that other haplogroups are of Native American origin. Finding any haplogroup in a contemporary Native population does not mean that it was originally Native, or that it should be counted as such. Admixture and adoption have been commonplace since Europeans first set foot on the soil of the Americas.

Now let’s talk about the Y DNA of MA-1.

The authors state that MA-1’s results are found very near the base of haplogroup R. They note that the sister lineage of haplogroup R, haplogroup Q, is the most common haplogroup in Native Americans and that the closest Eurasian Q results to Native Americans come from the Altai region.

The testing of the MA-1 Y chromosome was much more extensive than the typical STR genealogy tests taken by consumers today. MA-1’s Y chromosome was sequenced at 5.8 million base pairs at a coverage of 1.5X.

The resulting haplotree is shown below, again from the supplementary material.

The current haplogroup distribution range for haplogroup R is shown below, again with comparison points as black dots.

The current distribution range for Eurasian haplogroup Q is shown on the map below. Haplogroup Q is the most common haplogroup in Native Americans.

Similarly, we find autosomal evidence that MA-1 is basal to modern-day western Eurasians and genetically closely related to modern-day Native Americans, with no close affinity to east Asians. This suggests that populations related to contemporary western Eurasians had a more north-easterly distribution 24,000 years ago than commonly thought. Furthermore, we estimate that 14 to 38% of Native American ancestry may originate through gene flow from this ancient population. This is likely to have occurred after the divergence of Native American ancestors from east Asian ancestors, but before the diversification of Native American populations in the New World. Gene flow from the MA-1 lineage into Native American ancestors could explain why several crania from the First Americans have been reported as bearing morphological characteristics that do not resemble those of east Asians^{2, 13}.

Kennewick Man is probably the most famous of the skeletal remains that don’t neatly fit into their preconceived box. Kennewick man was discovered on the bank of the Columbia River in Kennewick, Washington in 1996 and is believed to be from 7300 to 7600 years old. His anatomical features were quite different from today’s Native Americans and his relationship to ancient people is unknown. An initial evaluation and a 2010 reevaluation of Kennewick Man let to the conclusion by Doug Owsley, a forensic anthropologist, that Kennewick Man most closely resembles the Ainu people of Japan who themselves are a bit of an enigma, appearing much more Caucasoid than Asian. Unfortunately, DNA sequencing of Kennewick Man originally was ussuccessful and now, due to ongoing legal issues, more technologically advanced DNA testing has not been allowed. Nova sponsored a facial reconstruction of Kennewick Man which you can see here.

Sequencing of another south-central Siberian, Afontova Gora-2 dating to approximately 17,000 years ago¹⁴, revealed similar autosomal genetic signatures as MA-1, suggesting that the region was continuously occupied by humans throughout the Last Glacial Maximum. Our findings reveal that western Eurasian genetic signatures in modern-day Native Americans derive not only from post-Columbian admixture, as commonly thought, but also from a mixed ancestry of the First Americans.

In addition to the sequencing they set forth above, the authors compared the phenotype information obtainable from MA-1 to the Tyrolean Iceman, typically called Otzi. You can see Otzi’s facial reconstruction along with more information here. This is particularly interesting in light of the pigmentation change from darker skin in Africa to lighter skin in Eurasia, and the question of when this appearance change occurred. MA-1 shows a genetic affinity with the contemporary people of northern Europe, the population today with the highest frequency of light pigmentation phenotypes. The authors compared the DNA of MA-1 with a set of 124 SNPs identified in 2001 by Cerquira as informative on skin, hair and eye pigmentation color, although they also caution that this method has limited prediction accuracy. Given that, they say that MA-1 had dark hair, skin and eyes, but they were not able to sequence the full set of SNPs. MA-1 also had the SNP value associated with a high risk of male pattern baldness, a trait seldom found in Native American people and was not lactose tolerant, a trait found in western Eurasians. MA-1 also does not carry the mutation associated with hair thickness and shovel shaped incisors in Asians.

The chart below from the supplemental material shows the comparison with MA-1 and the Tyrolean Iceman.

The Tarim Mummies, found in the Tarim Basin in present-day Xinjiang, China are another example of remains that seem out of place. The earliest Tarim mummies, found at Qäwrighul and dated to 1800 BCE, are of a Europoid physical type whose closest affiliation is to the Bronze Age populations of southern Siberia, Kazakhstan, Central Asia, and the Lower Volga.

The cemetery at Yanbulaq contained 29 mummies which date from 1100–500 BCE, 21 of which are Mongoloid—the earliest Mongoloid mummies found in the Tarim Basin—and eight of which are of the same Europoid physical type found at Qäwrighul.

Notable mummies are the tall, red-haired “Chärchän man” or the “Ur-David” (1000 BCE); his son (1000 BCE), a small 1-year-old baby with brown hair protruding from under a red and blue felt cap, with two stones positioned over its eyes; the “Hami Mummy” (c. 1400–800 BCE), a “red-headed beauty” found in Qizilchoqa; and the “Witches of Subeshi” (4th or 3rd century BCE), who wore 2-foot-long (0.61 m) black felt conical hats with a flat brim. Also found at Subeshi was a man with traces of a surgical operation on his neck; the incision is sewn up with sutures made of horsehair.

Their costumes, and especially textiles, may indicate a common origin with Indo-European neolithic clothing techniques or a common low-level textile technology. Chärchän man wore a red twill tunic and tartan leggings. Textile expert Elizabeth Wayland Barber, who examined the tartan-style cloth, discusses similarities between it and fragments recovered from salt mines associated with the Hallstatt culture.

DNA testing revealed that the maternal lineages were predominantly East Eurasian haplogroup C with smaller numbers of H and K, while the paternal lines were all R1a1a. The geographic location of where this admixing took place is unknown, although south Siberia is likely. You can view some photographs of the mummies here.

In closing, the authors of the MA-1 paper state that the study has four important implications.

First, we find evidence that contemporary Native Americans and western Eurasians shareancestry through gene flow from a Siberian Upper Palaeolithic population into First Americans.

Second, our findings may provide an explanation for the presence of mtDNA haplogroup X in Native Americans, which is related to western Eurasians but not found in east Asian populations.

Third, such an easterly presence in Asia of a population related to contemporary western Eurasians provides a possibility that non-east Asian cranial characteristics of the First Americans derived from the Old World via migration through Beringia, rather than by a trans-Atlantic voyage from Iberia as proposed by the Solutrean hypothesis.

Fourth, the presence of an ancient western Eurasian genomic signature in the Baikal area before and after the LGM suggests that parts of south-central Siberia were occupied by humans throughout the coldest stages of the last ice age.

The times, they are a changin’.

Dr. Michael Hammer’s presentation at the 9^th Annual International Conference on Genetic Genealogy may shed some light on all of this seeming confusing and somewhat conflicting information.

The graphic below shows the Y haplogroup base tree as documented by van Oven.

You can see, in the lower right corner, that Y haplogroup K (not to be confused with mtDNA haplogroup K discussed in conjunction with mtDNA haplogroup U) was the parent of haplogroup P which is the parent of both haplogroups Q and R.

It has always been believed that haplogroup R made its way into Europe before the arrival of Neolithic farmers about 10,000 years ago. However, that conclusion has been called into question, also by the use of Ancient DNA results. You can view additional information about Hammer’s presentation here, but in a nutshell, he said that there is no early evidence in burials, at all, for haplogroup R being in Europe at an early age. In about 40 burials from several location, haplogroup R has never been found. If it were present, especially in the numbers expected given that it represents more than half of the haplogroups of the men of Europe today, it should be represented in these burials, but it is not. Hammer concludes that evidence supports a recent spread of haplogroup R into Europe about 5000 years ago. Where was haplogroup R before spreading into Europe? In Asia.

It appears that haplogroup K diversified in Southeast Asian, giving birth to haplogroups P, Q and R. Dr. Hammer said that this new information, combined with new cluster information and newly discovered SNP information over the past two years requires that haplogroup K be significantly revised. Between the revision of haplogroup K, the parent of both haplogroup R, previously believed to be European, and haplogroup Q, known to be Asian, European and Native, we may be in for a paradigm shift in terms of what we know about ancient migrations and who is whom. This path for haplogroup R into Europe really shouldn’t be surprising. It’s the exact same distribution as haplogroup Q, except haplogroup Q is much less frequently found in Europe than haplogroup R.

What Can We Say About MA-1?

In essence, we can’t label MA-1 as paternally European because of Y haplogroup R which now looks to have had an Asian genesis and was not known to have been in Europe 24,000 years ago, only arriving about 5,000 years ago. We can’t label haplogroup R as Native American, because it has never been found in a pre-Columbian New World burial.

We can say that mitochondrial haplogroup U is found in Europe in Hunter-Gatherer groups six thousand years ago (R was not) but we really don’t know if haplogroup U was in Europe 24,000 years ago. We cannot label haplogroup U as Native because it has never been found in a pre-Columbian New World burial.

We can determine that MA-1 did have ancestors who eventually became European due to autosomal analysis, but we don’t know that those people lived in what is now Europe 24,000 years ago. So the migration might have been into Europe, not out of Europe. MA-1, his ancestors and descendants, may have lived in Asia and subsequently settled in Europe or lived someplace inbetween. We can determine that MA-1’s line of people eventually admixed with people from East Asia, probably in Siberia, and became today’s First People of North and South America.

We can say that MA-1 appears to have been about 30% what is today Western Eurasian and that he is closely related to modern day Native Americans, but not eastern Asians. The authors estimate that between 14% and 38% of Native American ancestry comes from MA-1’s ancient population.

Whoever thought we could learn so much from a 4 year old?

For anyone seriously interested in Native American population genetics, “Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans” is a must read.

It’s been a great month for ancient DNA. Additional recent articles which pertain to this topic include:

http://www.nytimes.com/2013/11/21/science/two-surprises-in-dna-of-boy-found-buried-in-siberia.html?src=me&ref=general&_r=0

http://www.sciencedaily.com/releases/2013/11/131120143631.htm

http://dienekes.blogspot.com/2013/11/ancient-dna-from-upper-paleolithic-lake.html

http://blogs.discovermagazine.com/gnxp/2013/11/long-first-age-mankind/#.Uo0eOcSkrIU

http://cruwys.blogspot.com/2013/11/day-1-at-royal-societys-2013-ancient.html

http://cruwys.blogspot.co.uk/2013/11/day-2-at-royal-societys-2013-ancient.html

http://www.sciencedaily.com/releases/2013/11/131118081251.htm

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2013 Family Tree DNA Conference Day 2

Posted on November 12, 2013 by Roberta Estes

ISOGG Meeting

The International Society of Genetic Genealogy always meets at 8 AM on Sunday morning. I personally think that 8AM meeting should be illegal, but then I generally work till 2 or 3 AM (it’s 1:51 AM now), so 8 is the middle of my night.

Katherine Borges, the Director speaks about current and future activities, and Alice Fairhurst spoke about the many updates to the Y tree that have happened and those coming as well. It has been a huge challenge to her group to keep things even remotely current and they deserve a huge round of virtual applause from all of us for the Y tree and their efforts.

Bennett opened the second day after the ISOGG meeting.

“The fact that you are here is a testament to citizen science” and that we are pushing or sometimes pulling academia along to where we are.

Bennett told the story of the beginning of Family Tree DNA. “Fourteen years ago when the hair that I have wasn’t grey,” he began, “I was unemployed and tried to reorganize my wife’s kitchen and she sent me away to do genealogy.” Smart woman, and thankfully for us, he went. But he had a roadblock. He felt there was a possibility that he could use the Y chromosome to solve the roadblock. Bennett called the author of one of the two papers published at that time, Michael Hammer. He called Michael Hammer on Sunday morning at his home, but Michael was running out the door to the airport. He declined Bennett’s request, told him that’s not what universities do, and that he didn’t know of anyplace a Y test could be commercially be done. Bennett, having run out of persuasive arguments, started mumbling about “us little people providing money for universities.” Michael said to him, “Someone should start a company to do that because I get phone calls from crazy genealogists like you all the time.” Let’s just say Bennett was no longer unemployed and the rest, as they say, is history. With that, Bennett introduced one of our favorite speakers, Dr. Michael Hammer from the Hammer Lab at the University of Arizona.

Session 1 – Michael Hammer – Origins of R-M269 Diversity in Europe

Michael has been at all of the conferences. He says he doesn’t think we’re crazy. I personally think we’ve confirmed it for him, several times over, so he KNOWS we’re crazy. But it obviously has rubbed off on him, because today, he had a real shocker for us.

I want to preface this by saying that I was frantically taking notes and photos, and I may have missed something. He will have his slides posted and they will be available through a link on the GAP page at FTDNA by the end of the week, according to Elliott.

Michael started by saying that he is really exciting opportunity to begin breaking family groups up with SNPs which are coming faster than we can type them.

Michael rolled out the Y tree for R and the new tree looks like a vellum scroll.

Today, he is going to focus on the basic branches of the Y tree because the history of R is held there.

The first anatomically modern humans migrated from Africa about 45,000 years ago.

After last glacial maximum 17,000 years ago, there was a significant expansion into Europe.

Neolithic farmers arrived from the near east beginning 10,000 years ago.

Farmers had an advantage over hunter gatherers in terms of population density. People moved into Northwestern Europe about 5,000 years ago.

What did the various expansions contribute to the population today?

Previous studies indicate that haplogroup R has a Paleolithic origin, but 2 recent studies agree that this haplogroup has a more recent origin in Europe – the Neolithic but disagree about the timing of the expansion.

The first study, Joblin’s study in 2010, argued that geographic diversity is explained by single Near East source via Anaotolia.

It conclude that the Y of Mesololithic hunger-gatherers were nearly replaced by those of incoming farmers.

In the most recent study by Busby in 2012 is the largest study and concludes that there is no diversity in the mapping of R SNP markers so they could not date lineage and expansion. They did find that most basic structure of R tree did come from the near east. They looked at P311 as marker for expansion into Europe, wherever it was. Here is a summary page of Neolithic Europe that includes these studies.

Hammer says that in his opinion, he thought that if P311 is so frequent and widespread in Europe it must have been there a long time. However, it appears that he and most everyone else, was wrong.

The hypothesis to be tested is if P311 originated prior to the Neolithic wave, it would predict higher diversity it the near east, closer to the origins of agriculture. If P311 originated after the expansion, would be able to see it migrate across Europe and it would have had to replace an existing population.

Because we now have sequences the DNA of about 40 ancient DNA specimens, Michael turned to the ancient DNA literature. There were 4 primary locations with skeletal remains. There were caves in France, Spain, Germany and then there’s Otzi, found in the Alps.

All of these remains are between 6000-7000 years old, so prior to the agricultural expansion into Europe.

In France, the study of 22 remains produced, 20 that were G2a and 2 that were I2a.

In Spain, 5 G2a and 1 E1b.

In Germany, 1I G2a and 2 F*.

Otzi is haplogroup G2a2b.

There was absolutely 0, no, haplogroup R of any flavor.

In modern samples, of 172 samples, 94 are R1b.

To evaluate this, he is dropping back to the backbone of haplogroup R.

This evidence supports a recent spread of haplogroup R lineages in western Europe about 5K years ago. This also supports evidence that P311 moved into Europe after the Neolithic agricultural transition and nearly displaced the previously existing western European Neolithic Y, which appears to be G2a.

This same pattern does not extrapolate to mitochondrial DNA where there is continuity.

What conferred advantage to these post Neolithic men? What was that advantage?

Dr. Hammer then grouped the major subgroups of haplogroup R-P3111 and found the following clusters.

U106 is clustered in Germany
L21 clustered in the British Isles
U152 has an Alps epicenter

This suggests multiple centers of re-expansion for subgroups of haplogroup R, a stepwise process leading to different pockets of subhaplogroup density.

Archaeological studies produce patterns similar to the hap epicenters.

What kind of model is going on for this expansion?

Ancestral origin of haplogroup R is in the near east, with U106, P312 and L21 which are then found in 3 European locations.

This research also suggests thatG2a is the Neolithic version of R1b – it was the most commonly found haplogroup before the R invasion.

To make things even more interesting, the base tree that includes R has also been shifted, dramatically.

Haplogroup K has been significantly revised and is the parent of haplogroups P, R and Q.

It has been broken into 4 major branches from several individual lineages – widely shifted clades.

Haps R and Q are the only groups that are not restricted to Oceana and Southeast Asia.

Rapid splitting of lineages in Southeast Asia to P, R and Q, the last two of which then appear in western Europe.

R then, populated Europe in the last 4000 years.

How did these Asians get to Europe and why?

Asian R1b overtook Neolithic G2a about 4000 years ago in Europe which means that R1b, after migrating from Africa, went to Asia as haplogroup K and then divided into P, Q and R before R and Q returned westward and entered Europe. If you are shaking your head right about now and saying “huh?”…so were we.

Here is Dr. Hammer’s revised map of haplogroup dispersion.

Moving away from the base tree and looking at more recent SNPs, Dr. Hammer started talking about some of the findings from the advanced SNP testing done through the Nat Geo project and some of what it looks like and what it is telling us.

For example, the R1bs of the British Isles.

There are many clades under L 21. For example, there is something going on in Scotland with one particular SNP (CTS11722?) as it comprises one third of the population in Scotland, but very rare in Ireland, England and Wales.

New Geno 2.0 SNP data is being utilized to learn more about these downstream SNPs and what they had to say about the populations in certain geographies.

For example, there are 32 new SNPs under M222 which will help at a genealogical level.

These SNPs must have arisen in the past couple thousand years.

Michael wants to work with people who have significant numbers of individuals who can’t be broken out with STRs any further and would like to test the group to break down further with SNPs. The Big Y is one option but so is Nat Geo and traditional SNP testing, depending on the circumstance.

G2a is currently 4-5% of the population in Europe today and R is more than 40%.

Therefore, P312 split in western Eurasia and very rapidly came to dominate Europe

Session 2 – Dr. Marja Pirttivaara – Bridging Social Media and DNA

Dr. Pirttivaara has her PhD in Physics and is passionate about genetic genealogy, history and maps. She is an administrator for DNA projects related to Finland and haplogroup N1c1, found in Finland, of course.

Finland has the population of Minnesota and is the size of New Mexico.

There are 3750 Finland project members and of them 614 are haplogroup N1c1.

Combining the N1c1 and the Uralic map, we find a correlation between the distribution of the two.

Turku, the old capital, was full or foreigners, in Medieval times which is today reflected in the far reaching DNA matches to Finnish people.

Some of the interest in Finland’s DNA comes from migration which occurred to the United States.

Facebook and other social media has changed the rules of communication and allows the people from wide geographies to collaborate. The administrator’s role has also changed on social media as opposed to just a FTDNA project admin. Now, the administrator becomes a negotiator and a moderator as well as the DNA “expert.”

Marja has done an excellent job of motivating her project members. They are very active within the project but also on Facebook, comparing notes, posting historical information and more.

Session 3 – Jason Wang – Engineering Roadmap and IT Update

Jason is the Chief Technology Officer at Family Tree DNA and recently joined with the Arpeggi merger and has a MS in Computer Engineering.

Regarding the Gene by Gene/FTDNA partnership, “The sum of the parts is greater than the whole.” He notes that they have added people since last year in addition to the Arpeggi acquisition.

Jason introduced Elliott Greenspan, who, to most of us, needed no introduction at all.

Elliott began manually scoring mitochondrial DNA tests at age 15. He joined FTDNA in 2006 officially.

Year in review and What’s Coming

4 times the data processed in the past year.

Uploads run 10 times faster. With 23andMe and Ancestry autosomal uploads, processing will start in about 5 minutes, and matches will start then.

FTDNA reinvented Family Finder with the goal of making the user experience easier and more modern. They added photos, profiles and the new comparison bars along with an advanced section and added push to chromosome browser.

Focus on users uploading the family tree. Tools don’t matter if the data isn’t there. In order to utilize the genealogy aspect, the genealogy info needs to be there. Will be enhancing the GEDCOM viewer. New GEDCOMs replace old GEDCOMs so as you update yours, upload it again.

They are now adding a SNP request form so that you can request a SNP not currently available. This is not to be confused with ordering an existing SNP.

They currently utilize build 14 for mitochondrial DNA. They are skipping build 15 entirely and moving forward with 16.

They added steps to the full sequence matches so that you can see your step-wise mutations and decide whether and if you are related in a genealogical timeframe.

New Y tree will be released shortly as a result of the Geno 2.0 testing. Some of the SNPs have mutated as much as 7 times, and what does that mean in terms of the tree and in terms of genealogical usefulness. This tree has taken much longer to produce than they expected due to these types of issues which had to be revised individually.

New 2014 tree has 6200 SNPS and 1000 branches.

Commitment to take genetic genealogy to the next level
Y draft tree
Constant updates to official tree
Commitment to accurate science

If a single sample comes back as positive for a SNP, they will put it on the tree and will constantly update this.

If 3 or 4 people have the same SNP that are not related it will go directly to the tree. This is the reason for the new SNP request form.

Part of the reason that the tree has taken so long is that not every SNP is public and it has been a huge problem.

When they find a new SNP, where does it go on the tree? When one SNP is found or a SNP fails, they have run over 6000 individual SNPs on Nat Geo samples to vet to verify the accuracy of the placement. For example, if a new SNP is found in a particular location, or one is found not to be equivalent that was believe to be so previously, they will then test other samples to see where the SNP actually belongs.

X Matching

Matching differential is huge in early testing. One child may inherit as little as 20% of the X and another 90%. Some first cousins carry none.

X matching will be an advanced feature and will have their own chromosome browser.

End of the year – January 1. Happy New Year!!!

Population Finder

It’s definitely in need of an upgrade and have assigned one person full time to this product.

There are a few contention points that can be explained through standard history.

It’s going to get a new look as well and will be easily upgradeable in the future.

They cannot utilize the National Geographic data because it’s private to Nat Geo.

Bennett – “Committed to an engineering team of any size it takes to get it done. New things will be rolling out in first and second quarter of next year.” Then Bennett kind of sighed and said “I can’t believe I just said that.”

Session 4 – Dr. Connie Bormans – Laboratory Update

The Gene by Gene lab, which of course processes all of the FTDNA samples is now a regulated lab which allows them to offer certain regulated medical tests.

CLIA
CAP
AABB
NYSDOH

Between these various accreditations, they are inspected and accredited once yearly.

Working to decrease turn-around time.

SNP request pipeline is an online form and is in place to request a new SNP be added to their testing menu.

Raised the bar for all of their tests even though genetic genealogy isn’t medical testing because it’s good for customers and increases quality and throughput.

New customer support software and new procedures to triage customer requests.

Implement new scoring software that can score twice as many tests in half the time. This decreases turn-around time to the customer as well.

New projects include improved method of mtDNA analysis, new lab techniques and equipment and there are also new products in development.

Ancient DNA (meaning DNA from deceased people) is being considered as an offering if there is enough demand.

Session 5 – Maurice Gleeson – Back to Our Past, Ireland

Maurice Gleeson coordinated a world class genealogy event in Dublin, Ireland Oct. 18-20, 2013. Family Tree DNA and ISOGG volunteers attended to educate attendees about genetic genealogy and DNA. It was a great success and the DNA kits from the conference were checked in last week and are in process now. Hopefully this will help people with Irish ancestry.

12% of the Americans have Irish ancestry, but a show of hands here was nearly 100% – so maybe Irish descendants carry the crazy genealogist gene!

They developed a website titled Genetic Genealogy Ireland 2013. Their target audience was twofold, genetic genealogy in general and also the Irish people. They posted things periodically to keep people interested. They also created a Facebook page. They announced free (sponsored) DNA tests and the traffic increased a great deal. Today ISOGG has a free DNA wiki page too. They also had a prize draw sponsored by the Ireland DNA and mtdna projects. Maurice said that the sessions and the booth proximity were quite symbiotic because when y ou came out of the DNA session, the booth was right there.

2000-5000 people passed by the booth

500 people in the booth

Sold 99 kits – 119 tests

45 took Y 37 marker tests

56 FF, 20 male, 36 female

18 mito tests

They passed out a lot of educational material the first two days. It appeared that the attendees were thinking about things and they came back the last day which is when half of the kits were sold, literally up until they threatened to turn the lights out on them.

They have uploaded all of the lectures to a YouTube channel and they have had over 2000 views. Of all of the presentation, which looked to be a list of maybe 10-15, the autosomal DNA lecture has received 25% of the total hits for all of the videos.

This is a wonderful resource, so be sure to watch these videos and publicize them in your projects.

Session 6 – Brad Larkin – Introducing Surname DNA Journal

Brad Larkin is the FTDNA video link to the “how to appropriately” scrape for a DNA test. That’s his minute or two of fame! I knew he looked familiar.

Brad began a peer reviewed genetic genealogy journal in order to help people get their project stories published. It’s free, open access, web based and the author retains the copyright.. www.surnamedna.com

Conceived in 2012, the first article was published in January 2013. Three papers published to date.

Encourage administrators to write and publish their research. This helps the publication withstand the test of time.

Most other journals are not free, except for JOGG which is now inactive. Author fees typically are $1320 (PLOS) to $5000 (Nature) and some also have subscription or reader fees.

Peer review is important. It is a critical review, a keen eye and an encouraging tone. This insures that the information is evidence based, correct and replicable.

Session 7 – mtdna Roundtable – Roberta Estes and Marie Rundquist

This roundtable was a much smaller group than yesterday’s Y DNA and SNP session, but much more productive for the attendees since we could give individual attention to each person. We discussed how to effectively use mtdna results and what they really mean. And you just never know what you’re going to discover. Marie was using one of her ancestors whose mtDNA was not the haplogroup expected and when she mentioned the name, I realized that Marie and I share yet another ancestral line. WooHoo!!

Q&A

FTDNA kits can now be tested for the Nat Geo test without having to submit a new sample.

After the new Y tree is defined, FTDNA will offer another version of the Deep Clade test.

Illumina chip, most of the time, does not cover STRs because it measures DNA in very small fragments. As they work with the Big Y chip, if the STRs are there, then they will be reported.

80% of FTDNA orders are from the US.

Microalleles from the Houston lab are being added to results as produced, but they do not have the data from the older tests at the University of Arizona.

Holiday sale starts now, runs through December 31 and includes a restaurant.com $100 gift card for anyone who purchases any test or combination of tests that includes Family Finder.

That’s it folks. We took a few more photos with our friends and left looking forward to next year’s conference. Below, left to right in rear, Marja Pirttivaara, Marie Rundquist and David Pike. Front row, left to right, me and Bennett Greenspan.

See y’all next year!!!

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2013 Family Tree DNA Conference Day 1

Posted on November 11, 2013 by Roberta Estes

This article is probably less polished than my normal articles. I’d like to get this information out and to you sooner rather than later, and I’m still on the road the rest of this week with little time to write. So you’re getting a spruced up version of my notes. There are some articles here I’d like to write about more indepth later, after I’m back at home and have recovered a bit.

Max Blankfield and Bennett Greenspan, founders, opened the conference on the first day as they always do. Max began with a bit of a story.

13 years ago Bennett started on a quest….

Indeed he did, and later, Bennett will be relating his own story of that journey.

Someone mentioned to Max that this must be a tough time in this industry. Max thought about this and said, really, not. Competition validates what you are doing.

For competition it’s just a business opportunity – it was not and is not approached with the passion and commitment that Family Tree DNA has and has always had.

He said this has been their best year ever and great things in the pipeline.

One of the big moves is that Arpeggi merged into Family Tree DNA.

10^th Anniversary Pioneer Awards

Quite unexpectedly, Max noted and thanked the early adopters and pioneers, some of which who are gone now but remain with us in spirit.

Max and Bennett recognized the administrators who have been with Family Tree DNA for more than 10 years. The list included about 20 or so early adopters. They provided plaques for us and many of us took a photo with Max as the plaques were handed out.

I am always impressed by the personal humility and gratitude of Max and Bennett, both, to their administrators. A good part of their success is attributed, I’m sure, to their personal commitment not only to this industry, but to the individual people involved. When Max noted the admins who were leaders and are no longer with us, he could barely speak. There were a lot of teary eyes in the room, because they were friends to all of us and we all have good memories.

Thank you, Max and Bennett.

The second day, we took a group photo of all of the recipients along with Max and Bennett.

With that, it was Bennett’s turn for a few remarks.

Bennett says that having their own lab provides a wonderful environment and allows them to benchmark and respond to an ever changing business environment.

Today, they are a College of American Pathologists certified lab and tomorrow, we will find out more about what is coming. Tomorrow, David Mittleman will speak about next generation sequencing.

The handout booklet includes the information that Family Tree DNA now includes over 656,898 records in more than 8,700 group projects. These projects are all managed by volunteer administrators, which in and of itself, is a rather daunting number and amount of volunteer crowd-sourcing.

Session 1 – Amy McGuire, PhD, JD – Am I My Brother’s Keeper?

Dr. McGuire went to college for a very long time. Her list of degrees would take a page or so. She is the Director of the Center for Medical Ethics and Health Policy at Baylor College of Medicine.

Thirteen years ago, Amy’s husband was sitting next to Bennett’s wife on an airplane and she gave him a business card. Then two months ago, Amy wound up sitting next to Max on another airplane. It’s a very small world.

I will tell you that Amy said that her job is asking the difficult questions, not providing the answers. You’ll see from what follows that she is quite good at that.

How is genetic genealogy different from clinical genetics in terms of ethics and privacy? How responsible are we to other family members who share our DNA?

What obligations do we have to relatives in all areas of genetics – both clinical, direct to consumer that related to medical information and then for genetic genealogy.

She referenced the article below, which I blogged about here. There was unfortunately, a lot of fallout in the media.

Identifying Personal Genomes by Surname Inference – Science magazine in January 2013. I blogged about this at the time.

She spoke a bit about the history of this issue.

In 2004, a paper was published that stated that it took only 30 to 80 specifically selected SNPS to identify a person.

2008 – Can you identify an individual from pooled or aggregated or DNA? This is relevant to situations like 911 where the DNA of multiple individuals has been mixed together. Can you identify individuals from that brew?

2005 – 15 year old boy identifies his biological father who was a sperm donor. Is this a good thing or a bad thing? Some feel that it’s unethical and an invasion of the privacy of the father. But others feel that if the donor is concerned about that, they shouldn’t be selling their sperm.

Today, for children conceived from sperm donors, there are now websites available to identify half-siblings.

The movement today is towards making sure that people are informed that their anonymity may not be able to be preserved. DNA is the ultimate identifier.

Genetic Privacy – individual perspectives vary widely. Some individuals are quite concerned and some are not the least bit concerned.

Some of the concern is based in the eugenics movement stemming from the forced sterilization (against their will) of more than 60,000 Americans beginning in 1907. These people were considered to be of no value or injurious to the general population – meaning those institutionalized for mental illness or in prison.

1927 – Buck vs Bell – The Supreme court upheld forced sterilization of a woman who was the third generation institutionalized female for retardation. “Three generations of imbeciles is enough.” I must say, the question this leaves me with is how institutionalized retarded women got pregnant in what was supposed to be a “protected” environment.

Hitler, of course, followed and we all know about the Holocaust.

I will also note here that in my experience, concern is not rooted in Eugenics, but she deals more with medical testing and I deal with genetic genealogy.

The issues of privacy and informed consent have become more important because the technology has improved dramatically and the prices have fallen exponentially.

In 2012, the Nonopore OSB Sequencer was introduced that can sequence an entire genome for about $1000.

Originally, DNA data was provided in open access data bases and was anonymized by removing names. The data base from which the 2013 individuals were identified removed names, but included other identifying information including ages and where the individuals lived. Therefore, using Y-STRs, you could identify these families just like an adoptee utilizes data bases like Y-Search to find their biological father.

Today, research data bases have moved to controlled access, meaning other researchers must apply to have access so that their motivations and purposes can be evaluated.

In a recent medical study, a group of people in a research study were informed and educated about the utility of public data bases and why they are needed versus the tradeoffs, and then they were given a release form providing various options. 53% wanted their info in public domain, 33 in restricted access data bases and 13% wanted no data release. She notes that these were highly motivated people enrolled in a clinical study. Other groups such as Native Americans are much more skeptical.

People who did not release their data were concerned with uncertainly of what might occur in the future.

People want to be respected as a research participant. Most people said they would participate if they were simply asked. So often it’s less about the data and more about how they are treated.

I would concur with Dr. McGuire on this. I know several people who refused to participate in a research study because their results would not be returned to them personally. All they wanted was information and to be treated respectfully.

What the new genetic privacy issues are really all about is whether or not you are releasing data not just about yourself, but about your family as well. What rights or issues do the other family members have relative to your DNA?

Jim Watson, one of the discoverers of DNA, wanted to release his data publicly…except for his inherited Alzheimer’s status. It was redacted, but, you can infer the “answer” from surrounding (flanking regions) DNA. He has two children. How does this affect his children? Should his children sign a consent and release before their father’s genome is published, since part of it is their sequence as well? The academic community was concerned and did not publish this information. Jim Watson published his own.

There is no concrete policy about this within the academic community.

Dr McGuire then referenced the book, “The Immortal Life of Henrietta Lacks”. Henrietta Lacks was a poor African-American woman with ovarian cancer. At that time, in the 1950s, her cancer was considered “waste” and no release was needed as waste could be utilized for research. She was never informed or released anything, but then they were following the protocols of the time. From her cell line, the HeLa cell line, the first immortal cell line was created which ultimately generated a great deal of revenue for research institutes. The family however, remained impoverished. The genome was eventually fully sequenced and published. Henrietta Lacks granddaughter said that this was private family information and should never have been published without permission, even though all of the institutions followed all of the protocols in place.

So, aside from the original ethics issues stemming from the 1950s – who is relevant family? And how does or should this affect policy?

How does this affect genetic genealogy? Should the rules be different for genetic genealogy, assuming there are (will be) standard policies in place for medical genetics? Should you have to talk to family members before anyone DNA tests? Is genetic information different than other types of information?

Should biological relatives be consulted before someone participates in a medical research study as opposed to genetic genealogy? How about when the original tester dies? Who has what rights and interests? What about the unborn? What about when people need DNA sequencing due to cancer or another immediate and severe health condition which have hereditary components. Whose rights trump whose?

Today, the data protections are primarily via data base access restrictions.

Dr. Mcguire feels the way to protect people is through laws like GINA (Genomic Information Nondiscrimination Act) which protects people from discrimination, but does not reach to all industries like life insurance.

Is this different than people posting photos of family members or other private information without permission on public sites?

While much of Dr. McGuire’s focus in on medical testing and ethics, the topic surely is applicable to genetic genealogy as well and will eventually spill over. However, I shudder to think that someone would have to get permission from their relatives before they can have a Y-line DNA test. Yes, there is information that becomes available from these tests, including haplogroup information which has the potential to make people uncomfortable if they expected a different ethnicity than what they receive or an undocumented adoption is involved. However, doesn’t the DNA carrier have the right to know, and does their right to know what is in their body override the concerns about relatives who should (but might not) share the same haplogroup and paternal line information?

And as one person submitted as a question at the end of the session, isn’t that cat already out of the bag?

Session 2 – Dr. Miguel Vilar – Geno 2.0 Update and 2014 Tree

Dr. Vilar is the Science manager for the National Geographic’s Genographic Project.

“The greatest book written is inside of us.”

Miguel is a molecular anthropologist and science writer at the University of Pennsylvania. He has a special interest in Puerto Rico which has 60% Native mitochondrial DNA – the highest percentage of Native American DNA of any Caribbean Island.

The Genographic project has 3 parts, the indigenous population testing, the Legacy project which provides grants back to the indigenous community and the public participation portion which is the part where we purchase kits and test.

Below, Dr. Vilars discussed the Legacy portion of the project.

The indigenous population aspect focuses both on modern indigenous and ancient DNA as well. This information, cumulatively, is used to reconstruct human population migratory routes.

These include 72,000 samples collected 2005-2012 in 12 research centers on 6 continents. Many of these are working with indigenous samples, including Africa and Australia.

42 academic manuscripts and >80 conference presentations have come forth from the project. More are in the pipeline.

Most recently, a Science paper was published about the spread of mtDNA throughout Europe across the past 5000 years. More than 360 ancient samples were collected across several different time periods. There seems to be a divide in the record about 7000 years ago when several disappear and some of the more well known haplogroups today appear on the scene.

Nat Geo has funded 7 new scientific grants since the Geno 2.0 portion began for autosomal including locations in Australia, Puerto Rico and others.

Public participants – Geno 1.0 went over 500,000 participants, Geno 2.0 has over 80,000 participants to date.

Dr. Vilar mentioned that between 2008 and today, the Y tree has grown exponentially. That’s for sure. “We are reshaping the tree in an enormous way.” What was once believed to very homogenous, but in reality, as it drills down to the tips, it’s very heterogenous – a great deal of diversity.

As anyone who works with this information on a daily basis knows, that is probably the understatement of the year. The Geno 2.0 project, the Walk the Y along with various other private labs are discovering new SNPs more rapidly than they can be placed on the Y tree. Unfortunately, this has led to multiple trees, none of which are either “official” or “up to date.” This isn’t meant as a criticism, but more a testimony of just how fast this part of the field is emerging. I’m hopeful that we will see a tree in 2014, even if it is an interim tree. In fact, Dr. Vilars referred to the 2014 tree.

Next week, the Nat Geo team goes to Ireland and will be looking for the first migrants and settlers in Ireland – both for Y DNA and mitochondrial DNA. Dr. Vilars says “something happened” about 4000 years ago that changed the frequency of the various haplogroups found in the population. This “something” is not well understood today but he feels it may be a cultural movement of some sort and is still being studied.

Nat Geo is also focused on haplogroup Q in regions from the Arctic to South America. Q-M3 has also been found in the Caribbean for the first time, marking a migration up the chain of islands from Mexico and South America within the past 5,000 years. Papers are coming within the next year about this.

They anticipate that interest will double within the next year. They expect that based on recent discoveries, the 2015 Y tree will be much larger yet. Dr. Michael Hammer will speak tomorrow on the Y tree.

Nat Geo will introduce a “new chip by next year.” The new Ireland data should be available on the National Geographic website within a couple of weeks.

They are also in the process up updating the website with new heat maps and stories.

Session 3 – Matt Dexter – Autosomal Analyses

Matt is a surname administrator, an adoptee and has a BS in Computer Science. Matt is a relatively new admin, as these things go, beginning his adoptive search in 2008.

Matt found out as a child that he was adopted through a family arrangement. He contacted his birth mother as an adult. She told him who his father was who subsequently took a paternity test which disclosed that the man believed to be his biological father, was not. Unfortunately, his ‘father’ had been very excited to be contacted by Matt, and then, of course, was very disappointed to discover that Matt was not his biological child.

Matt asked his mother about this, and she indicated that yes, “there was another guy, but I told him that the other guy was your father.’ With that, Matt began the search for his biological father.

In order to narrow the candidates, his mother agreed to test, so by process of elimination, Matt now knows which side of his family his autosomal results are from.

Matt covers how autosomal DNA works.

This search has led Matt to an interest in how DNA is passed in general, and specifically from grandparents to grandchildren.

One advantage he has is that he has five children whose DNA he can then compare to his wife and three of their grandparents, inferring of course, the 4^th grandparent by process of elimination. While his children’s DNA doesn’t help him identify his father, it did give him a lot of data to work with to learn about how to use and interpret autosomal DNA. Here, Matt is discussing his children’s inheritance.

Session 4 – Jeffrey Mark Paul – Differences in Autosomal DNA Characteristics between Jewish and Non-Jewish Populations and Implications for the Family Finder Test

Dr.Jeffrey Paul, who has a doctorate in Public Health from John Hopkins, noticed that his and his wife’s Family Finder results were quite different, and he wanted to know why. Why did he, Jewish, have so many more?

There are 84 participants in the Jewish project that he used for the autosomal comparison.

What factors make Ashkenazi Jews endogamous. The Ashkenazi represent 80%of world’sJewish population.

Arranged marriages based on family backgrounds. Rabbinical lineages are highly esteemed and they became very inbred with cousins marrying cousins for generations.

Cultural and legal restrictions restrict Jewish movements and who they could marry.

Overprediction, meaning people being listed as being cousins more closely than they are, is one of the problems resulting from the endogamous population issue. Some labs “correct” for this issue, but the actual accuracy of the correction is unknown.

Jeffrey compared his FTDNA Family Finder test with the expected results for known relatives and he finds the results linear – meaning that the results line up with the expected match percentages for unrelated relatives. This means that FTDNA’s Jewish “correction” seems to be working quite well. Of course, they do have a great family group with which to calibrate their product. Bennett’s family is Jewish.

Jeffrey has downloaded the results of group participants into MSAccess and generates queries to test the hypothesis that Jewish participants have more matches than a non-Jewish control group.

The Jewish group had approximately a total of 7% total non-Ashkenazi Jewish in their Population Finder results, meaning European and Middle Eastern Jewish. The non-Jewish group had almost exactly the opposite results.

Jewish people have from 1500-2100 matches.
Interfaith 700-1100 (Jewish and non)
NonJewish 60-616

Jewish people match almost 33% of the other Jewish people in the project. Jewish people match both Jewish and Interfaith families. NonJewish families match NonJewish and interfaith matches.

Jeffrey mentioned that many people have Jewish ancestry that they are unaware of.

This session was quite interesting. This study while conducted on the Jewish population, still applies to other endogamous populations that are heavily intermarried. One of the differences between Jewish populations and other groups, such as Amish, Brethren, Mennonite and Native American groups is that there are many Jewish populations that are still unmixed, where most of these other groups are currently intermixed, although of course there are some exceptions. Furthermore, the Jewish community has been endogamous longer than some of the other groups. Between both of those factors, length of endogamy and current mixture level, the Jewish population is probably much more highly admixed than any other group that could be readily studied.

Due to this constant redistribution of Jewish DNA within the same population, many Jewish people have a very high percentage of distant cousin relationships.

For non-Jewish people, if you are finding match number is the endogamous range, and a very high number of distant cousins, proportionally, you might want to consider the possibility that some of your ancestors descend from an endogamous population.

Unfortunately, the photo of Dr. Paul was unuseable. I knew I should have taken my “real camera.”

Session 5 – Finding Your Indian Prince(ss) Without Having to Kiss Too Many Frogs

This was my session, and I’ll write about it later.

Someone did get a photo, which I’ve lifted from Jennifer Zinck’s great blog (thank you Jennifer), Ancestor Central. In fact, you can see her writeup for Day 1 here and she is probably writing Day 2’s article as I type this, so watch for it too.

Session 6 – Roundtable – Y-SNPs, hosted by Roberta Estes, Rebekah Canada and Marie Rundquist

At the end of the day, after the breakout sessions, roundtable discussions were held. There were several topics. Rebekah Canada, Marie Rundquist and I together “hostessed” the Y DNA and SNP discussion group, which was quite well attended. We had a wide range of expertise in the group and answered many questions. One really good aspect of these types of arrangements is that they are really set up for the participants to interact as well. In our group, for example, we got the question about what is a public versus a private SNP, and Terry Barton who was attending the session answered the question by telling about his “private” Barton SNPs which are no longer considered private because they have now been found in three other surname individuals/groups. This means they are listed on the “tree.” So sometimes public and private can simply be a matter of timing and discovery.

Here’s Bennett leading another roundtable discussion.

Session 7 – Dr. David Mittleman

Dr. Mittleman has a PhD in genetics, is a professor as well as an entrepreneur. He was one of the partners in Arpeggi and came along to Gene by Gene with the acquisition. He seems to be the perfect mixture of techie geek, scientist and businessman.

He began his session by talking a bit about the history of DNA sequencing, next generation sequencing and a discussion about the expectation of privacy and how that has changed in the past few years with Google which was launched in 2006 and Facebook in 2010.

David also discussed how the prices have dropped exponentially in the past few years based on the increase in the sophistication of technology. Today, Y SNPs individually cost $39 to test, but for $199 at Nat Geo you can test 12,000 Y SNPs.

The WTY test, now discontinued tsted about 300,000 SNPs on the Y. It cost between $950 (if you were willing to make your results public) and $1500 (if the results were private,)

Today, the Y chromosome can be sequenced on the Illumina chip which is the same chip that Nat Geo used and that the autosomal testing uses as well. Family Tree DNA announced their new Big Y product that will sequence 10 million positions and 25,000 known SNPs for an introductory sale price of $495 for existing customers. This is not a test that a new customer would ever order. The test will normally cost $695.

Candid Shots

Tech row in the back of the room – Elliott Greenspan at left seated at the table.

ISOGG Reception

The ISOGG reception is one of my favorite parts of the conference because everyone comes together, can sit in groups and chat, and the “arrival” adrenaline has worn off a bit. We tend to strategize, share success stories, help each other with sticky problems and otherwise have a great time. We all bring food or drink and sometimes pitch in to rent the room. We also spill out into the hallways where our impromptu “meetings” generally happen. And we do terribly, terribly geeky things like passing our iPhones around with our chromosome painting for everyone to see. Do we know how to party or what???

Here’s Linda Magellan working hard during the reception. I think she’s ordering the Big Y actually. We had several orders placed by admins during the conference.

We stayed up way too late visiting and the ISOGG meeting starts at 8 AM tomorrow!

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Native American Maternal Haplogroup A2a and B2a Dispersion

Posted on October 29, 2013 by Roberta Estes

Recently, in Phys.org, they published a good overview of a couple of recently written genetic papers dealing with Native American ancestry. I particularly like this overview, because it’s written in plain English for the non-scientific reader.

In a nutshell, there has been ongoing debate that has been unresolved surrounding whether or not there was one or more migrations into the Americas. These papers use these terms a little differently. They not only talk about entry into the Americas but also dispersion within the Americans, which really is a secondary topic and happened, obviously, after the initial entry event(s).

The primary graphic in this article, show below, from the PNAS article, shows the distribution within the Americas of Native American haplogroups A2a and B2a.

Schematic phylogeny of complete mtDNA sequences belonging to haplogroups A2a and B2a. A maximum-likelihood (ML) time scale is shown. (Inset) A list of exact age values for each clade. Credit: Copyright © PNAS, doi:10.1073/pnas.0905753107

As you can see, the locations of these haplogroups are quite different and the various distribution models set forth in the papers account for this difference in geography.

One of the aspects of this paper, and the two academic papers on which it is based, that I find particularly encouraging is that the researchers are utilizing full sequence mitochondrial DNA, not just the HVR1 or HVR1+HVR2 regions which has all too often been done in the past. In all fairness, until rather recently, the expense of running the full sequence was quite high and there were few (if any) other results in the academic data bases to compare the results with. Now, the cost is quite reasonable, thanks in part to genetic genealogy and new technologies, and so the academic testing standards are changing. If you’ll note, Alessandro Achilli, one of the authors of these papers and others about Native Americans as well, also comments towards the end that full genome testing will be being utilized soon. I look forward to this new era of research, not only for Native Americans but for all of us searching for our roots.

Read the Phys.org paper at: http://phys.org/news/2013-09-mitochondrial-genome-north-american-migration.html#jCp

The original academic papers are found here and here. I encourage anyone with a serious interest in this topic to read these as well.

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Native American Mitochondrial Haplogroups

Posted on September 18, 2013 by Roberta Estes

188

Today, what I’m sharing with you are my research notes. If you follow my blogs, you’ll know that I have a fundamental, lifelong interest in Native American people and am mixed blood myself. I feel that DNA is just one of the pieces of history that can be recovered and has a story to tell, along with early records, cultural artifacts and oral history.

In order to work with Native American DNA, and the various DNA projects that I co-administer, it’s necessary to keep a number of lists and spreadsheets. This particular list was originally the first or earliest reference or references to a Native American mitochondrial (maternal line) haplogroup where it is identified as Native in academic papers. I have since added other resources as I’ve come across them.

For those wondering why I’ve listed Mexican, this article speaks to the very high percentage of Native American mitochondrial DNA in the Mexican population.

Please note that while some of these haplogroups are found exclusively among Native American people, others are not and are also found in Europe and/or Asia. In some cases, branches are exclusively Native. In other cases, we are still sorting through the differences. For haplogroups though to be only Native, I have put any other submission information, which is often from Siberia.

I have labeled the major founding haplogroups, as such. This graphic from the paper, “Beringian Standstill and the Spread of Native American Founders” by Tamm et al, provided the first cumulative view of the mitochondrial Native founder population.

Haplogroups A, B, C, D and X are known as Native American haplogroups, although not all subgroups in each main haplogroup are Native, so one has to be more specific.

Please note that I am adding information from haplogroup projects at Family Tree DNA. This information is self-reported and should only be utilized with confidence after confirming the accuracy of the information.

Please note that in earlier papers and projects, not all results may have been tested to the full sequence level, so results in base haplogroups, like A and B, for example, may well fall into subclades with additional testing.

The protocol and logic for adding the Anzick results for consideration, along with other evidence is discussed in this article. In short, for the 12,500 year old Anzick specimen to match any currently living people at relatively high thresholds, meaning 5cM or over, the living individual would likely have to be heavily Native. Most matches are from Mexico, Central America and South America. Many mitochondrial DNA haplogroups are subgroups of known Native groups, but never before documented as Native. Therefore, the protocol I followed for inclusion was any subgroup of haplogroups A, B, C, D, M or X. Some individuals are unhappy that some haplogroups were among the Anzick results and that I have not removed them at their request, in particular, M23. To arbitrarily remove a haplogroup listing would be a breach of the protocol I followed. Research does not always provide what is expected. I have includes links to notes where appropriate.

Phylotree Versions

The Phylotree is the document that defines the mutations that equate to haplogroup names.

Please note that most papers don’t indicate which version of the Phylotree they used when sequencing the DNA. Haplogroup names sometimes change with new versions of the Phylotree. Phylotree builds occurred as follows:

Family Tree DNA updated from build 14 to 17 in March 2017.

As of April 2017, 23andMe is still utilizing Build 12 from 2011.

Roberta’s Native Mitochondrial DNA Notes

Haplogroup A

Many samples classified as haplogroup A, with no subgroup, were not tested beyond the HVR1 or HVR1+HVR2 regions. Most, but not all, people will receive more granular haplogroups if the full mitochondrial sequence test is taken.

Tribes or peoples include Cherokee, Choctaw, Chippewa, Cree, Huron, Mi’kmaq, and PeeDee found in 2021 in the Haplogroup A project , Acadian AmerIndian Ancestry project and American Indian projects at Family Tree DNA.
Ancestral locations in 2021 include Alaska, Alberta, Argentina, Arizona, Bahamas, Belize, Brazil, British Colombia, California, Canada, Chile, Colombia, Costa Rica, Cuba, Dominican Republic, El Salvador, Guatemala, Honduras, Indiana, Kuna-Panama, Louisiana, Manitoba, Mexico, New Mexico, Nicaragua, North Carolina, Nova Scotia, Ohio, Panama, Puerto Rico, Saskatchewan, South Carolina, Texas, Wisconsin, Venezuela.
Anzick Provisional Extract, Estes 2014
Anzick Provisional Extract, Estes January 2015 – (32 As with no subgroup)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Ancient A

Ancient samples from Antaura (1) and Puca (5) 1100-1500 BC. Baca, 2014
Ancient sample named Kwäday Dän Ts’ìchi, Long-Ago Person Found from the glacier at Tatshenshini-Alsek Park, Canada, dates from about 1420 CE, Monsalve 2002
Ancient samples (2) from Tompullo and Andaray, Peru dating from about 1450 CE, Baca, 2012

A-T152C!

Cuba, Guatemala, Honduras, Puerto Rico – the Haplogroup A project and American Indian projects 2021

Mexican – 2007 Peñaloza-Espinosa
Rumsen, Esselen, Salinan from Monterey, California – Breschini and Haversat 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
In Build 17, previous haplogroup A4a became A1
Please note that in 2021, haplogroups A1 and A1a appear not to be Native, but there remains some question. In the next version of the haplotree as a result of the Million Mito Project, we can hopefully resolve this question.

A1a

In Build 17, previous haplogroup A4a1 became A1a
Please note that in 2021, haplogroups A1 and A1a appear not to be Native, but there remains some question. In the next version of the haplotree as a result of the Million Mito Project, we can hopefully resolve this question.

Native, Beringian Founder Haplogroup – 2008 Achilli
Hispanic American – 2008 Just
Mexican – 2007 Peñaloza-Espinosa
Mexican, Achilli, 2008
Eskimo – Volodko, 2008
Dogrib – Eskimo – Volodko, 2008
Apache – Volodko, 2008
Mexico and Central America – Eskimo – Volodko, 2008
Apache – Volodko, 2008
Ache and Guarani/Rio-das-Cobras and Katuana and Poturujara and Surui and Waiwai and Yanomama and Zoro – Fagundes 2008
Waiwai, Brazil, Zoro, Brazil, Surui, Brazil, Yanomama, Brazil, Kayapo, Brazil, Arsario, Colombia, Cayapa, Ecuador, Kogui, Colombia – Fagundes 2008
Arsario and Cayapa – Tamm 2007
Kogui – Tamm 2007
Colombia – Hartmann 2009
Waorani tribe, Ecuador – Cardoso 2012
Anzick Provisional Extract, Estes January 2015 – (192 A2s with no subgroup),
Inupiat people from Alaska North Slope – Raff 2015
Ancestral locations found in March 2021 in the Haplogroup A project, Acadian AmerIndian Ancestry project and American Indian projects at Family Tree DNA include: Argentina, Brazil, California, Canada, Cuba, Ecuador, Guatemala, Mexico, New Brunswick, Nicaragua, Ontario, Puerto Rico, Quebec, Washington State, Mississippi
Tribes in 2021 include Algonquin and Choctaw.

Ancient A2

Ancient remains from Lauricocha cave central Andean highlands – Fehren-Schmitz 2015
Gran Chaco, Argentina – Sevini 2014
Chumash – Breschini and Haversat 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Wari Culture, Huaca Pucllana, Peru – Llamas, 2016
Lima Culture, Huaca Pucllana, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Lauricocha culture, Lauricocha, Peru – Llamas, 2016
Tiwanaku culture, Lauricocha, Peru – Llamas, 2016
Paisley 5 Mile Point Caves, 11,000-10,800 YBP – Gilbert et al, 2008
Manabi, San Ramon, Pichincha, Quito, Imbabura, Chimborazo, Riobamba, Tungurahua, Pillaro, Cotopaxi, Salcedo, Azuay and Cuenca in Ecuador, Native and Cayapa, also Peru, 6 ancient and several contemporary – Brandini, 2017
Argentina, Brazil, Canada, Chile, Cuba, Ecuador, El Salvadore, Guatemala, Mexico, Nicaragua, Puerto Rico, Peru, Venezuela, in Canada – British Columbia, New Brunswick, Northwest Territory, Nova Scotia, Ontario, Quebec, Vancouver Island, in the US – Alabama, Alaska, Caswell County, NC, Crawford County, PA, Michigan, Mississippi, tribes – Choctaw, Mi’kmaq – Haplogroup A2 Mitochondrial Project at Family Tree DNA, August 7, 2019
Ancient samples (3) from San Nicolas Island, CA dating from approximately 2100-2400 BCE, Scheib et al, 2018
Ancient samples (2) from Pampa Grande, Argentina, Candelaria culture dating from about 400 CE, Carnese et al 2010
Ancient samples (2) from the Lauricocha, Highlands of Peru with 2 dating from about 6500-6700 BCE and one from 1600 BCE, Fehren-Schmitz 2015
Ancient samples (5) from Lapa do Santo, Brazil dating from about 7500-7900 BCE, Posth 2018
Ancient samples (2) from Arroyo Seco II, Argentina dating from about 5620 BCE, Llamas 2016
Ancient sample from Pampas, Laguna Chica, Argentina dating from about 5000 BCE, Posth 2018
Ancient samples (2) from Laranjal, Brazil dating from about 4600-5000 BCE, Posth 2018
Ancient sample from Caleta Huelen, Chile daring from about 600-800 CD, Nakatsuka 2020
Ancient samples (9) from Atajadizo, Dominican Republic dating from about 700 BCE (8 samples) and 1300 BCE (1), Fernandes 2020
Ancient sample from Monserrate, Puerto Rico dating from about 800 CE, Fernandes 2020
Ancient sample (3) from South Andros Island (Sanctuary Blue Hole,), Bahamas dating from about 1245 CE and 900 CE, Fernandes 2020
Ancient samples (6) from Juan Dolio, Dominican Republic dating from about 1200-1250 CE, Fernandes 2020
Ancient samples (3) from Andres, Dominican Republic dating from about 995 CE and 650 CE, Fernandes 2020
Ancient sample from La Union, Dominican Republic dating from about 700 CE, Fernandes 2020
Ancient sample from de Savaan, Curaco dating from about 1160 CE, Fernandes 2020
Ancient sample from Canimar Abajo, Cuba dating from about 950 BCE, Fernandes 2020
Ancient sample from Los Corniel (Rancho Manuel), Dominican Republic, dating from about 1150 CE. Fernandes 2020
Ancient sample from Caba Rojo, Puerto Rico dating from about 1000 CE. Fernandes 2020
Ancient samples (3) from La Caleta, Dominican Republic dating from about 1100 CE, Fernandes 2020
Ancient sample from Cueva Juana near Cape of Samana, Dominican Republic dating from about 825 CE. Fernandes 2020
Ancient sample from Paso del Indio, Puerto Rico dating from about 1100 CE. Nägele 2020
Ancient samples (3) from Lavoutte (Cas-en-Bas), St. Lucia dating from about 1200-1300 CE. Nägele 2020
Ancient sample from Los Indios, Puerto Rico dating from about 1350 CE.Nägele 2020
Ancient sample from Guayabo Blanco (near Punto Brava), Cuba dating from about 600 BCE. Nägele 2020
Ancient sample from Playa del Mango, Rio Cauto, Granma, Cuba dating from about 20 CE. Nägele 2020
Ancient samples (2) from Cueva Calero (Matanzas), Cuba dating from about 400-500 CE. Nägele 2020
Ancient samples (2) from Canimar Abajo, Cuba dating from about 500-600 CE. Nägele 2020
Ancient sample from Cueva del Perico, Cuba dating from about 700 CE. Nägele 2020
Ancient samples (2) from Paso del Indio, Puerto Rico dating from about 1000-1250 CE.Nägele 2020
Ancient sample from Pica Ocho, Coast of Chile dating from about 1300 CE. Posth 2018
Ancient sample from Arroyo Seco, Argentina dating from about 5800 BCE. Posth 2018
Ancient sample (2) from the island Chumash, San Miguel Island, Canada dating from about 1830 CE and 1600-1800 CE. Scheib et al, 2018
Ancient sample from mainland Chumash, Carpenteria, CA dating from about 400-550 CE. Scheib et al, 2018
Ancient sample from island Chumash, Santa Cruz Island, CA dating from about 1500-1800 CE. Scheib et al, 2018
Ancient sample from San Sebastian, Cusco, Highlands of Peru dating from about 1450 CE. Nakatsuka 2020
Ancient sample from Huaca Pucllana, Lima Peru dating from about 700 CE. Nakatsuka 2020
Ancient sample from El Brujo, Peru dating from about 1000 CE. Nakatsuka 2020
Ancient sample from southwest of Buenos Aires, Argentina dating from about 400 BCE. Nakatsuka 2020
Ancient samples (6) from the central Andes of southern Peru dating from about 300-1450 BCE. Fehren-Schmitz 2015
Ancient sample from the middle Andes of southern Peru dating from about 1000 BCE. Fehren-Schmitz 2015
Ancient samples from the Kotosh culture in La Galgada, Peru dating from about 2050 BCE, Llamas 2016
Ancient sample from the Chinchorro culture in Camarones, Chile dating from about 1800 BCE, Llamas 2016
Ancient sample from the Tiwanaku culture in Tiwanaku, Bolivia dating from between 500 and 1000 CE, Llamas 2016
Ancient samples (4) from the Wari and Lima Cultures in Huaca Pucllana, Lima, Peru dating from between 500 and 1000 CE, Llamas 2016
Ancient sample from the Chancay culture in Pasamayo, Peru dating from between 1000 and 1470 CE, Llamas 2016
Ancient sample from the Inca culture in San Sebastian, Peru dating from about 1400 CE, Llamas 2016
Ancient sample from the Late Central Andes culture from Cuncaicha, Highlands of Peru dating from 2250 BCE, Llamas 2016
Ancient samples (2) from Pica, Chile dating to between 500 and 1000 BCE, Llamas 2016
Ancient samples (5) from Checua, Colombia dating from 6000-7800 BCE and 2 samples dating from about 3000 BCE, Diaz-Matallana 2016
Ancient sample from the Chinchorro culture in Arica, Chile dating from about 3800 BCE, Raghavan 2015
Ancient sample from the Enoque culture from Toca do Enoque in Serra da Capivara, Piaui, Brazil, dating from about 3500 BCE, Raghavan 2015
Ancient sample from Big Bar Lake, British Columbia, Canada dating from about 3600 BCE, Moreno-Mayar 2018
Ancient samples (4) from the Wari era from Cochapata, Peru dating from about 600-1000 CE, Kemp 2009
Ancient samples (3) from the Wari Era from Huari-MQ, Peru dating from about 1000-1450 BCE, Kemp 2009
Ancient sample from the Caribbean culture from Santa Elena, Puerto Rico dating from between 900-1300 BCE, Fernandes 2020
Ancient samples (4) found in Tibanica, Colombia from about 1000 BCE, Perez 2015
Ancient sample from Tilcara, Quebrada de Humahuaca, Jujuy, Argentina dating from about 1100 BCE, Mendisco 2014
Ancient sample from Banda de Perchel, Quebrada de Humahuaca, Jujuy, Argentina dating from about 1150 CE, Mendisco 2014
Ancient samples (13) from Los Amarilloes, Quebrada de Humahuaca, Jujuy, Argentina dating from about 980-1467 CE, Mendisco 2014
Ancient samples (2) from Fuerte Alto, Calchaqui Valley, Salta, Argentina dating from about 1000-1500 CE, Mendisco 2014
Ancient sample from Tero, Calchaqui Valley, Salta, Argentina dating from about 1000-1500 CE, Mendisco 2014
Ancient samples (2) from the Inca period from Esquina de Huajra (Quebrada de Humahuaca), Argentina dating from about 1500 CE. Russo 2017
Ancient samples (4) from Doncellas, Argentina dating from about 1000-1450 CE, Postillone 2017
Ancient sample from Casabindo, Argentina dating from about 1000-1450 CE, Postillone 2017
Ancient sample from Agua Caliente, Argentina dating from about 1000-1450 CE, Postillone 2017
Ancient sample from Doncellas, Argentina dating from about 1000-1450 CE, Postillone 2017
Ancient samples (2) from the Athabaskan culture from Tochak McGrath, Upper Kuskokwim River, Alaska, one dating from about 1050-1400 CE, and one from about 550-900 CE, Flegontov 2019. This paper is fascinating – take a look.
Ancient sample from Tequendama, Colombia dating from between 4000-5000 BCE, Delgado 2020
Ancient sample from Ubate, Colombia dating from about 3600 BCE. Delgado 2020
Ancient samples (4) from Aguazuque (Soacha), Colombia, two dating from about 1900 BCE, one from about 2600 BCE, and one from about 775 BCE. Delgado 2020
Ancient sample from Canimar Abajo, Cuba dating from about 1100 BCE, Nägele 2020
Ancient sample from Restigouche River, near the town of Atholville in northern New Brunswick, Canada dating from about 1500 CE. Raghavan 2015
Ancient sample from the lnca Late Horizon from Chincha, Peru dating from about 1500 CE. Bongers 2020

A2a and A2b

Paleo Eskimo, identified in only Siberia, Alaska and Natives from the American SW (Achilli 2013)
Raff 2015 – Inupiat people from Alaska North Slope
Ancient sample, Holas Island, Canada, about 2400 BCE,

A2a

Aleut – 2008 Volodko
Eskimo – Volodko, 2008
Apache – Volodko – 2008
Siberian Eskimo, Chukchi, Dogrib, Innuit and Naukan – Dryomov, 2015
Anzick Provisional Extract, Estes January 2015 – (2 A2a)
Common among Eskimo, Na-Dene and the Chukchis in northeasternmost Siberia, Athabaskan in SW (Achilli 2013), circumpolar Siberia to Greenland, Apache 48%, Navajo 13%
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Ancient A2a

Ancient samples (3) from Ekven, Russia, from a 2000 year old Eskimo cemetery near Uelen on the easternmost spit of land in the Bering Strait, one sample dating from about 100 BCE, one from about 900 BCE and one from about 30 BCE, Sikora 2019
Ancient samples (5) from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 700-1000 CE, Flegontov 2019
Ancient sample from Kagamil Island Warm Cave, Aleutian Islands, Alaska dating from about 1600 CE, Flegontov 2019
Ancient samples (2) from Uelen, Chukotka, Russia on the easternmost spit of land in the Bering Strait dating from about 1000 CE and about 250 CE, Flegontov 2019
Ancient sample from the Palm Site (Cook Inlet) from the Alaskan Athabaskan culture dating from about 1850 CE, Scheib et al, 2018
Ancient sample from Punta Candelero, Puerto Rico dating from about 158 CE, Nägele 2020
Ancient samples (2) from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 800-1000 CE, Harney 2020

A2aa

Waiwai and Poturujara tribes in Brazil Fagundes, 2008
Peru – Brandini, 2017

A2ab

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

A2ac

Chimborazo, Pallatanga, Riobana, Pichincha, Cayambe, Quito, Mejia in Ecuador, Mestizo and Cayapa – Brandini, 2017
Hispanic – Just, 2015
Colombia – Rieux, 2014
Venezuela – Brandini, 2017

A2ac1

Colombia, Cuba – Behar, 2012
Colombia – HGDP

A2ac2

Chimboro, Penipe, Santo Domingo, El Poste, Pichincha, Quito, Bolivar, Chimbo in Ecuador, Native Tsachila and Mestizo – Brandini, 2017

A2ad

Chitimacha in Louisiana found in the Haplogroup A project at Family Tree DNA

A2ac

Colombia found in the Haplogroup A project at Family Tree DNA

A2am

Peru – Brandini, 2017

A2ar

Guatemaula – Sochtig, 2015

A2a1

Selkup and Innuit – Dryomov, 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ancient samples (2) from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 850 CE, Flegontov 2019
Ancient sample from Tochak McGrath, Upper Kuskokwin River, Alaska from the Athabaskan culture dating from about 1225 CE, Flegontov 2019
Ancient sample from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 3 CE, Sikora 2019
Ancient sample from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 800 CE, Harney 2020

A2a2

Achilli 2013
Chukchu, Inuit, Eskimos, Naukan – Dryomov, 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Ancient A2a2

Ancient sample from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 250 BCE, Sikora 2019
Ancient sample from Ekven, Russia, from a 2000 year old Eskimo cemetery representing the Old Bering Sea culture near Uelen on the easternmost spit of land in the Bering Strait, dating from about 1150 CE, Flegontov 2019
Ancient sample from Uelen, Chukota, Russia on the easternmost spit of land in the Bering Strait, dating from about 1150 CE, Flegontov 2019

A2a3

Northern North America -Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Ancient A2a3

Birnirk (ancient sample,) Chukchi, Naukan, Innuit in Canada and Greenland – Dryomov 2015
Ancient sample from Ulaanzuukh, Sukhbaatar, Mongolia dating from about 1200 CE, Jeong 2020
Ancient sample from the Pucuncho Basin, Cuncaicha, Peru dating from about 2250 BCE, Nakatsuka 2020
Ancient sample from the Cuncaicha Highlands, Peru dating from about 2230 BCE, Llamas, 2016

A2a4

Chihuahua, Mexico – Achilli 2013
Navajo – Dryomov 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2a5

Achilli 2013
Navajo, Apache, Cree, Secwepemc – Dryomov 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Canada First Nations and US – 2021 Haplogroup A Project

A2ab

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Brazil – American Indian project 2021

A2ac

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Colombia – American Indian project 2021

A2ac1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Colombia – American Indian project 2021

A2ad

Second most common A2 subgroup in Panama, found in same countries as A2af – Perego 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cuba, Honduras – Haplogroup A Project 2021

A2ae

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A Project 2021

A2af

Perego 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af1a1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af1a2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af1b1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2af2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2ag

British Columbia, Tsimshian, ancient burial 152 Dodge Island, Canada – Cui 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ancient sample from Biggest of Lucy Islands, Alaska dating from about 3700 BCE, Cui 2013
Ancient sample from Dodge Island, British Columbia, Canada shell midden site dating from about 900 BCE, Cui 2013

A2ah

British Columbia, Dodge Island ancient burial 160a, Nisga’a, Kaigiani Haida, Tsimshian, Bella Coola – Ciu 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017
Ancient sample from Quebrada de Humahuaca valley, Argentina dating from about 1450 CE, Russo 2018
Puerto Rico, USA – Haplogroup A Project 2021

A2ai

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A Project 2021

A2ak

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
USA, Mexico, Venezuela, Wayuu (Colombia/Venezuela), Ecuador, Peru – Brandini 2017

A2al

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Panama – Haplogroup A Project 2021

A2am

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017
Ancient sample from de Savaan, Curacao dating from about 1350 CE, Fernandes 2020
Puerto Rico – Haplogroup A Project 2021

A2ao

Ancient sample from Cuncaicha, Highlands of Peru dating from about 1420 CE, Posth 2018

A2ao1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2ap

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A Project 2021

A2aq

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ancient sample from Dodge Island shell midden site, British Columbia, Canada dating from about 2900 BCE, Cui 2013

A2ar

Loja in Ecuador, Native and Mestizo, also Peru – Brandini, 2017

A2as

Peru, 2 ancient and 1 contemporary – Brandini, 2017

A2as1

Peru – Brandini, 2017

A2at

Peru – Brandini, 2017

A2at1

Peru, 2 ancient and several contemporary – Brandini, 2017

A2au

Peru – Brandini, 2017

A2av

Hispanic – Just, 2008

A2av1

Pichincha, Quito, El Oro, Zaruma in Ecuador, Mestizo and Native Panzaleo, also Peru – Brandini, 2017

A2av1a

Tungurahua, Pillaro, Ambato, Chimborazo, Riobamba in Ecuador, Mestizo and Native Panazaleo, also Peru – Brandini, 2017

A2aw

Carchi, Tulcan, Carchi, Montufar San Gabriel in Eduador, Mestizo and Native Cayambe – Brandini, 2017

A2b

Raff 2015 – Inupiat people from Alaska North Slope
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2b1

Achilli 2013
Anzick Provisional Extract, Estes January 2015 – (1 A2b1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Greenland – Haplogroup A Project 2021

A2c

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (5 A2c)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A Project 2021

A2c-C64T

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

A2d

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Anzick Provisional Extract, Estes January 2015 – (7 A2d)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2d1

Achilli, 2008
El Salvadore found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 A2d1)
A2d1a – Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (5 A2d1a)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cuba, El Salvadore – Haplogroup A Project 2021

A2d1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Zacatecas, Mexico – Haplogroup A Project 2021

A2d2

Achilli, 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2e

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (2 A2e)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico and Apache – Haplogroup A Project 2021

A2f

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 A2f)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2f1

Newfoundland, Pope
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2f1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Brunswick and Chippewa and Nova Scotia and Ojibwa and Mi’kmaq found in the Haplogroup A project at Family Tree DNA
Mi’kmaq found in the Haplogroup A2 project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cree, Ojibwa on the White Earth Reservation in Minnesota, Nova Scotia, Thunder Bay, Canada, Chippewa from Pembina Red Lake, MN,

A2f2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2f3

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2g

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons, Mexico – Kumar and Behar, Iberia – Hartman, Guatemala found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (5 A2g)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2g1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons, Mexico – Kumar, Asia – Hernstadt
Anzick Provisional Extract, Estes January 2015 – (3 A2g1)
New Mexico, Athabascan heritage, private test at 23andMe
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2-G153A!

Menominee, Wisconsin – Haplogroup A Project 2021

A2 – G16129A!

Metlakatla, British Columbia, Canada, Trinidad and Tobago, Tolland, CT and the Tlinget people found in the Haplogroup A project, Acadian AmerIndian Ancestry project and American Indian projects at Family Tree DNA

A2h

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Yanomama – Fagundez, Kogui – Tamm
Colombia – Rieux
Anzick Provisional Extract, Estes January 2015 – (10 A2h)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cuba – Haplogroup A project 2021

A2h1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico – Kumar and Behar
Michoacan, Mexico found in the Haplogroup A project at Family Tree DNA 2021
Anzick Provisional Extract, Estes January 2015 – (2 A2h1)

A2i

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (4 A2i)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2j

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Anzick Provisional Extract, Estes January 2015 – (4 A2j)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project 2021

A2j1

Achilli, 2008
Hispanic – Parsons
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2k

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons, Anzick Provisional Extract, Estes January 2015 – (4 A2k)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Pichincha, Manabi, Guayllabamba, Los Rios, quevedo, in Ecuador, Mestizo and Native Salasaca – Brandini, 2017
Mexico – Kumar, 2011
Mexico – Greenspan (FTDNA), 2011 direct submission
Puerto Rico – Haplogroup A project 2021

A2k1

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Wayuu – Tamm, 2007
Mexico – FTDNA
Puerto Rico found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (5 A2k1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017
Hispanic – Just, 2008

A2k1a

Peru, Venezuela – Brandini, 2017
Hispanic – Just, 2008
Ciales, Puerto Rico and Lajas, Puerto Rico – Haplogroup A project 2021

A2l

Mexico found in the Haplogroup A2 project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2m

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project 2021

A2n

Canada – Achilli and Behar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Slave Lake, Canada and Algonquian ancestor is US – Haplogroup A project 2021

A2p

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Cayapa – Tamm
Mexico found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 A2p)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2p1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project 2021

A2q

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (3 A2q)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2q1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Baja California and San Luis Potosi, Mexico – Haplogroup A project 2021

A2r

Mixteca-B – Mishmar
Guatemala – FTDNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, Louisiana – Haplogroup A project and American Indian project

A2r1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2t

Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2-T16111C!

Brazil, Mexico, Costa Rica and Louisiana – Haplogroup A project and American Indian projects 2021

A2u

Guatemala found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 A2u)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project and American Indian projects 2021

A2u1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2u2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2v

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Guatemala found in the Haplogroup A project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 A2v)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2v1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2v1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2v1b

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Guatemala & New Mexico – Haplogroup A project and American Indian projects 2021

A2v1-T152C!!!

New Mexico – Haplogroup A project and American Indian projects 2021

A2w

Hispanic – Parsons
Bahamas, Cayman Islands – Family Tree DNA project member
Arsario – Tamm
Mexico – Kumar
Colombia – Rieux
Caymens found in the Haplogroup A2 project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Bahamas, Costa Rica, Mexico, Panama – Haplogroup A project and American Indian projects 2021

A2w1

Colombia – FTDNA
Cayman Islands – FTDNA
Mexico – Zheng
Panama – Rieux
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2x

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Haplogroup A project and American Indian projects 2021

A2y

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017

A2y1

Chimborazo, La Moya, Imbabura, San Rafael, in Ecuador, Native Otavalo, Mestizo and Waorani, also Peru – Brandini, 2017

A2z

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (2 A2z)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Puerto Rico – Haplogroup A project and American Indian projects 2021

A2z1

Peru – Brandini, 2017
Puerto Rico – Behar, 2012
Puerto Rico – HGDP
Hispanic – Just, 2008
Hispanic – Just, 2014

A2z2

Peru – Brandini, 2017

A2-C64T

Cuba and Guatemaula and Choctaw found in the Haplogroup A project at Family Tree DNA
New Brunswick found in the Haplogroup A2 project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (7 A2-C64T)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A2-C64T-A189G (please note that under Build 17, most of haplogroup A2 has been reassigned)

Menominee in Wisconsin found in the Haplogroup A project at Family Tree DNA

A2-C64T-T16111C! (please note that in Build 17, this haplogroup is now A2-T16111C!)

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Chumash – Breschini and Haversat 2008

A4 (Please note that in Build 17, people previously assigned A4 were reassigned to other haplogroups based on their mutations, including haplogroups A, A18, A2-T16111C!, A2-G153A!, A-T152C!, A-T152C!-A200G, A A2ao, A2q1, A12a and possibly others. Haplogroup A4 itself no longer exists.)

Siberian founder of A2, not found in Americas – Kumar 2011
Poland and Romania found in the Haplogroup A4 project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (2 A4)
A4 is Native, found in Mexico, Colombia, Cuba, Puerto Rico, Honduras, Costa Rica and elsewhere – Estes 2015 – Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American
Chumash – Breschini and Haversat 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

A4a (please note that in Build 17, A4a became A1)

Kumar 2011 – Siberian founder of A2, not found in Americas

A4a1 (please note that in Build 17, A4a1 became A1a)

Found in Europe. One subgroup may be Native, found in Mexico – – Estes 2015 – Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American

A4b (please note that in Build 17, A4b became A12a)

Siberian founder of A2, not found in Americas – Kumar 2011
UK found in the Haplogroup A4 project at Family Tree DNA

A4c (Please note that in Build 17, A4c became A13)

Siberian founder of A2, not found in Americas – Kumar 2011

Chumash – Breschini and Haversat 2008

A5a

Anzick Provisional Extract, Estes January 2015 – (1 A5a)

Chumash – Breschini and Haversat 2008

Chumash – Breschini and Haversat 2008

Yokuts – Breschini and Haversat 2008

Chumash – Breschini and Haversat 2008

A10

Undetermined at this time, could be either European or Native – Estes 2015 – Haplogroup A4 Unpeeled – European, Jewish, Asian and Native American
A10 found in ancient remains in West Siberian population, Pilipenko, PlosOne, 2015
Chumash – Breschini and Haversat 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Please note that haplogroup A10 is most likely not Native, as least not in every instance.

A11

Luiseno – Breschini and Haversat 2008

A12

Chumash – Breschini and Haversat 2008

A12a

In Build 17, previous haplogroup A4b became A12a

A13

Salinan/Yokuts – Breschini and Haversat 2008
In Build 17, previous A4c became A13

Haplogroup B

Anzick Provisional Extract, Estes 2014
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (8 B with no subgroup)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Hourglass Cave, Colorado, 8000 YBP – Cui et al, 2013

Mexican – 2007 Peñaloza-Espinosa
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 B1*)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Native, Beringian Founder Haplogroup – 2008 Achilli, 2007 Tamm
Mexican – 2007 Peñaloza-Espinosa
Quecha and Ache and Gaviao and Guarani/Rio-das-Cobras and Kayapo-Dubemkokre and Katuena and Pomo and Waiwai and Xavante and Yanomama – Fagundes 2008
Ache, Paraguay, Gaviano, Brazil, Xavante, Brazil, Quechua, Bolivia, Guarani, Brazil, Kayapo, Brazil, Guarani, Brazil, Yanomama, Brazil, Cayapa, Ecuador, Coreguaje, Colombia, Ngoebe, Panama, Waunana, Colombia – Fagundes 2008
Hispanic American – Just 2008
Colombia – Hartmann 2009
Mexican American – Kumar 2011
Cayapa and Coreguaje and Ngoebe and Waunana and Wayuu and Coreguaje – Tamm 2007
Pima – Ingman 2000
Native American – Mishmar 2003
Colombian and Mayan – Kivisild 2006
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Colombia – Hartman
Yaqui – FTDNA
Shown with European and Mexican and South American entry in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (2 B2)
Ancient remains from Lauricocha Cave central Andean highlands – Fehren-Schmitz 2015
Ancient sample, central Alaska, Upper Sun River site from circa 11,500 before present – 2015, Tackney et al
Gran Chaco, Argentina – Sevini 2014
Aymara, Atacameno, Mapuche, Tehuelche in Chile and Argentina, South America – de Saint Pierre, 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ychsma culture, Huaca Pucllana, Peru – Llamas, 2016
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Pica-Tarapaca culture, Pica-8, Chile – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Lauricocha culture, Lauricocha, Peru – Llamas, 2016
Tiwanaku culture, Tiwanaku, Bolivia – Llamas, 2016
Aceramic culture, Cueva Cadelaria, Mexico – Llamas, 2016
Upward Sun River, Tackney 2015
Ancient samples, high percent B2 published populations: Yakama, Wishram, N. Paiute/Shoshoni, Washo, Fremont (500-1500 YBP,) Tommy Site (850-1150 YBP,) Anasazi (1010-2010 YBP,) Navajo, Jemez, Hualapai, Pai Yuman, Zuni, River Yuman, Delta Yuman, Tohono O’odham (Papago), Akimal O’odham (Pima,) Quechan/Cocopa, Nahua-Atopan, Embera, Puinave, Curriperco, Ingano, Uungay, San Martin, Peruvian Highlanders (550-450 YBP,), Yacotogia 1187 YBP, Ancash, Arequpa, Chimane, Puno (Quecha,) Quechua 2, Aymara 2, Trinitario, Quebrada de Humahuaca, Atacamenos, Chorote, Gram Chaco – Tackney 2015 supplement 2
Ancient samples, Sinixt, Quecha, Coreguaje, Waunana, Wayuu – Tackney 2015 supplement 1
Paisley 5 Mile Point Caves, 11,000-10,800 YBP – Gilbert et al, 2008
LatacungaCotopaxi, Angamarca, Loja, Ganil, Saquisili, Canar, Azogues, Pichincha, Quito in Ecuador, Mestizo and Native, also Peru, 5 ancient and several Mestizo – Brandini, 2017
Washington State, Oregon, California, Arizona, New Mexico, Texas, Illinois, North Carolina, Ecuador, Peru, Bolivia, Chile, Argentina, Brazil – Haplogroup B project at Family Tree DNA August 2019

B2a

Found just to the south of A2a, widespread in SW and found in one Chippewa clan, one Tsimshian in Canada and tribes indigenous to the SW, Mexico, possibly Bella Coola and Ojibwa, evolved in North America – Achilli 2008 and 2013,
Chihuahua, Mexico – Achilli, 2013
Found with Mexican entry and descended from Dorothee Metchiperouata b.c.1695 (Illinois) in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (14 B2a)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2aa

Ecuador, Mestizo – Brandini, 2017

B2aa1

Ecuador, Peru, ancient and contemporary – Brandini, 2017

B2aa1a

Peru, 4 ancient and 2 contemporary – Brandini, 2017

B2aa2

Mexico – Behar, 2012
Mexico – Kumar, 2011

B2ab

Peru, ancient and contemporary – Brandini, 2017
Bolivia, ancient sample – Llamas, 2016

B2ab1

Peru – Brandini, 2017

B2ab1a

Bolivia, ancient sample – Llamas, 2016
Peru – Brandini, 2017

B2ab1a1

Peru – Brandini, 2017

B2ac

Peru – Brandini, 2017

B2ad

Peru – Brandini, 2017

B2ae

Peru – Brandini, 2017

B2ag

Peru – Brandini, 2017

B2ag1

Peru – Brandini, 2017

B2ah

Peru – Brandini, 2017

B2a1

Achilli 2008 and 2013
Hispanic – Parsons
Sshown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (4 B2a1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Asia – Herrnstadt
Chihuahua, Mexico – Achilli 2008
Anzick Provisional Extract, Estes January 2015 – (6 B2a1a)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a1a1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (12 B2a1a1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a1b

Chihuahua, Mexico – Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a2

Achilli 2013
Hispanic – Parsons
Asia – Herrnstadt
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (4 B2a2)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a3

Chihuahua, Mexico – Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a4

Achilli 2013, widespread in north central Mexico and US SW
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a4a

Chihuahua, Mexico – Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a4a1

Chihuahua, Mexico, Durango, Mexico – Achilli 2013
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2a5

Achilli 2013, restricted to the Yuman (5%) and Uto-Aztecan Pima and Papago from Arizona (7%)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2b

Achilli, 2008
Yanomama, Pomo, Xavante, Kayapo – Fagundes, Cayapa – Tamm
Shown in Mexico and South America in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (40 B2b)
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Yschsma culture, Huaca Pucllana, Peru – Llamas, 2016
Wari culture, Huaca Pucllana, Peru – Llamas, 2016
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Cayapa – Tackney 2015 supplement 1
Loja, Tungurahua, Pichincha, Pedro vicente Malonado in Ecuador, Native, Mestizo and Native Saraguro, also Peru, ancient and contemporary – Brandini, 2017
Pomo in California – Fagundes, 2008
Xavante in Brazil – Fagundes, 2008
Colombia – HGDP
Hispanic – Just, 2015
Bolivia – Taboada-Echalar, 2013
Hoopa Tribe – private correspondence to Roberta Estes, August 2019

B2b1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Venezuela – Gomez-Carballa, 2011, direct submission

B2b2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Hispanic – Just, 2015
Bolivia – Toboada-Echalar, 2013

B2b2a

Bolivia – Toboada-Echalar, 2013

B2b3

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Yanomama of Brazil/Venezuela – Fagundes, 2008

B2b3a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Kayapo of Brazil – Faguendes, 2008
Puerto Rico – HGDP
Hispanic – Just, 2015
Venezuela – Brandini, 2017

B2b4

Mexico – Kumar, 2011

B2b5

Pichincha, Juan Montalvo, Cotopaxi, Mulalo, San Miguel de Los Bancos, Imbabura, Ibarra, Loja, Onocapa, Quito in Ecuador, Native Cayambe, Cayapa and Mestizo, also Peru and Venezuela – Brandini, 2017

B2b5a

Loja, Onacapa in Ecuador, Native and Mestizo – Brandini, 2017

B2b5a1

Loja in Ecuador, Native and Mestizo – Brandini, 2017

B2b5b

Pichincha in Ecuador, Mestizo – Brandini, 2017

B2b5b1

Peru – Brandini, 2017

B2b5b1a

Pichicha, Ruminahui, Quito in Ecuador, Mestizo – Brandini, 2017

B2b5b1a1

Pichicha, Ruminaui, Loja, Linderos, Ganil, Onocapa, Bolivar, Pinato in Ecuador, Native, Native Quincha, Mestizo – Brandini, 2017

B2b6a

Loja, Onacapa in Ecuador, Native – Brandini, 2017

B2b6a1

Pichincha, Quito, Ruminahui, Loja, Ganil in Ecuador, Native and Mestizo, also Peru – Brandini, 2017

B2b6a1a

Chimborazo, Riobamba, Chimborazo, Colta, Cotopaxi, Salcedo, Loja, Onacapa, Loja, Ganil, Quito, Pichincha, Pujili, Machachi in Ecuador, Native Puruha, Native Quitu-Cara/Cayambe Mestizo and Native – Brandini, 2017

B2b6b

Pichincha, Quito in Ecuador, Mestizo – Brandini, 2017

B2b6b1

Loja in Ecuador, Mestizo – Brandini, 2017

B2b6b1a

Loja, Gonzanama in Ecuador, Mestizo and Native, also Peru – Brandini, 2017

B2b7

Loja, Onocapa in Ecuador, Native and Mestizo – Brandini, 2017

B2b8

Peru – Brandini, 2017

B2b8a

Loja, Onacapa in Ecuador, Native and Mestizo – Brandini, 2017

B2b9

Peru – Brandini, 2017

B2b9a

Peru, 2 ancient and several contemporary – Brandini, 2017

B2b9b

Peru, 2 ancient and 2 contemporary – Brandini, 2017

B2b9c

Los Rios, Babahoyo in Ecuador, Mestizo, also Peru, 2 ancient – Brandini, 2017

B2b10a

Peru – Brandini, 2017

B2b10b

Peru – Brandini, 2017

B2b11

Peru, 4 ancient and 3 contemporary – Brandini, 2017

B2b11a

Peru, 3 ancient samples – Brandini, 2017

B2b11a1

Peru – Brandini, 2017

B2b11a1a

Peru – Brandini, 2017

B2b11b

Peru – Brandini, 2017

B2b11b1

Peru – Brandini, 2017

B2b12a

Morona-Santiago, Yaupi in Ecuador, Native Shuar, also Peru – Brandini, 2017

B2b12b

Peru – Brandini, 2017

B2b13

Peru – Brandini, 2017

B2c

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Asia – Herrnstadt
Anzick Provisional Extract, Estes January 2015 – (2 B2c)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ottawa River, Canada, Fulton Co., Pennsylvania, Orange Co., New York, Martin Co., North Carolina and San Luis Potosi, Mexico – Haplogroup B project at Family Tree DNA in August 2019

B2c1

Achilli, 2008
Shown in Mexico in the Haplogroup B project at Family Tree DNA
B2c2a
shown in Mexico in the Haplogroup B project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c1b

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c1c

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c2a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2c2b

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (2 B2c2b)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2d

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
North America – Mishmar
Ngoebe, Wayuu – Tamm
Shown in South America in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (7 B2d)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ngoebe – Tackney 2015 supplement 1

B2e

Waiwai – Fagundes
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2f

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico – Kumar
Chile – FTDNA
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (3 B2f)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2g

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 B2g)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2g1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown in Mexico in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (1 B2g1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2g2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2h

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2i2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2i2a1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2i2b

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2i2b1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2j

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2k

Mexico – Kumar
Venezuela – Gomez-Carballa
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2l

Peuhuenche, Mapuche, Huilliche, Mapuche ARG and Tehuelche Chile and Argentina, South America – de Saint Pierre, 2012
Wintu tribe descendant, Wintu DNA Project at Family Tree DNA, August 2019

B2l1

Mexico – HGDP

B2l1a

Loja, Ganil in Ecuador, Mestizo – Brandini, 2017

B2l1a1

Loja, Onacapa, Ganil in Eduador, Native – Brandini, 2017

B2m

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2n

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2o

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cherokee, Cherokee DNA Project at Family Tree DNA, October 2020

B2o1

Loja, Quilanga, Chimborazo, El Altar in Ecuador, Mestizo – Brandini, 2017

B2o1a

Bolivia – Taboada-Eschalar, 2013

B2p

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2q

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Hispanic – Just, 2015
Mexico – Kumar, 2011

B2q1

Pichincha, Zambiza, Loja, Catacocha, Onacapa in Ecuador, Native and Mestizo, also Peru – Brandini, 2017

B2q1a

Loja, Ganil, El Oro, Arenillas in Ecuador, Mestizo, also Peru – Brandini, 2017

B2q1a1

Loja, Onacapa in Ecuador, Native and Mestizo – Brandini, 2017

B2q1b

Peru, ancient and Ecuador, Mestizo – Brandini, 2017

B2r (Phylotree V17)

American Indian Project, Zacatecas, Mexico
Mexico, Haplogroup B Mitochondrial DNA Project at Family Tree DNA, January 8, 2019

B2s

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2t

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2u

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2v

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2w

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2y

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017

B2y1

Chaco Canyon burials, Kennett 2017
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2y2

Peru, ancient and contemporary – Brandini, 2017

B2z

Ecuador, Mestizo – Brandini, 2017

B2z1

Cotopaxi and Sigchos in Ecuador, Mestizo and Native Panzaleo (Quincha) – Brandini, 2017

B2z1a

Loja, Ganil, Onacapa in Ecuador, Native and Mestizo – Brandini, 2017

B2-T16311C!

Shown in Mexico in the Haplogroup B project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 B4)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4a1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 B4a1a)

B4a1a1

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade. Goncalves 2013, Polynesian motif,
Anzick Provisional Extract, Estes January 2015 – (1 B4a1a1) – full genome sequencing shows these remains to be entirely Polynesian, Malaspinas, 2015, Estes 2015.
Note August 30, 2016 – Te Papa’s archival records dating back to 1883/84 indicate that a Māori skull and a Moriori skull were sent to the National Museum in Rio de Janeiro in the early 1880s. In 2013-14, the findings of DNA research which included samples of Botocudo Indians housed at National Museum in Rio de Janeiro indicated that two of the Botocudo ancestors had typical Polynesian DNA sequences. It seems likely that these two “Botocudo Indians” with Polynesian DNA are the Tupuna (ancestors) that were sent from the Wellington Colonial Museum (now Te Papa) in the 1880s.

B4a1a1a

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade. Goncalves 2013, Polynesian motif – full genome sequencing shows these remains to be entirely Polynesian, Malaspinas, 2015, Estes 2015. See August 30, 2016 note for B4a1a1.

B4a1b

Anzick Provisional Extract, Estes January 2015 – (1 B4a1b)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4a1b1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4b

2007 Tamm
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4b1

Anzick Provisional Extract, Estes January 2015 – (1 B4b1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4bd

2007 Tamm
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4c1b

Anzick Provisional Extract, Estes January 2015 – (2 B4c1b)
B4f1
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4f1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B4’5

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Shown as European and East Asian and Mexican and South America and Nicaragua and Guatemaula and Cuba and Pacific Islands and identified as Ho-Chunk and descended from Pistikiokonay Pushmataha, b. 1766 (Choctaw) and Eastern Cherokee and Chickasaw and Creek in the Haplogroup B project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (15 B4’5)
Please note that not all B4’5 is Native

B5b2

Native American branch of haplogroup B with roots in the Altai-Sayan Upland. Starikovskaya, 2005

B5b2a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B5b2a2

Phylotree, Japanese and Polynesian samples
Hungarian sample, Haplogroup B Project at Family Tree DNA, January 2020

B5b3

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

B2e

Gran Chaco, Argentina – Sevini 2014

B21

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade, Goncalves 2013

Haplogroup C

Cherokee East and Mexico and Turkey and Puerto Rico and Ecuador and Argentina and Poland and Canada in the Haplogroup C project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (35 C with no subgroup)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Please note that not all haplogroup C without a subclade is Native

Native – 2008 Achilli, 2007 Tamm
Mexican – 2007 Peñaloza-Espinosa, Kumar 2011
Poturujara – Fagundes 2008
Hispanic American – Just 2008
Arara do Laranjal and Quechua and Yanomama and Waiwai and Zoro – Fagundes 2008
Waiwai, Brazil, Zoro, Brazil, Quechua, Bolivia, Arara, Brazil, Poturujara, Brazil – Fagundes 2008
Native American – Mishmar 2003
Warao – Ingman 2000
Anzick Provisional Extract, Estes January 2015 – (25 C1 with no subgroup)
Remains from Wizard’s Beach in Nevada– Chatters, 2015
Aymara, Atacameno, Mapuche, Huilliche, Kawesqar, Mapuche, Teheulche and Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Tiwanaku culture, Tiwanaku, Bolivia – Llamas, 2016
Wizard’s Beach, Nevada – Tackney, 2016
High Percent C1 published populations: Norris Farms 700 YBP, Cecil (3600-2860 YBP,) Cook 2000 YBP, Hualapai, Delta Yuman, Akimal O’odham (Pima,), La Calenta (Tainos) (1330-320 YBP,) Arawaken, Guambiano, Desano, Movina, Ignaciano

C1a

Kumar 2011
Ulchi – Starikovskaya
Siberia – Derenko,
Nanaitci – Ingham_gyll
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ulchi, Hispanic, Japanese, Buryat, Nanaitci – Tackney 2015 supplement 1

C1b

Beringian Founder Haplogroup – 2008 Achilli
Wayuu – 2007 Tamm
Pima, Mexico – Hartmann 2009
Mexican American – Kumar 2011
Quechua and Zoro and Arara and Poturujara – Fagundes 2008
Peru – Tito
Colombia – Zheng
Samish on Guemes Island and Fidalgo Island, British Columbia, American Indian DNA Project, 2014
Anzick Provisional Extract, Estes January 2015 – (26 C1b)
Central Alaska from circa 11,500 before present – 2015 Tackney et al
Gran Chaco, Argentina – Sevini 2014
Mexico and Ecuador in the Haplogroup C project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Inca culture, Llullaillaco, Argentina – Llamas, 2016
Ychsma culture, Huaca Pucllana, Peru – Llamas, 2016
Wari culture, Huaca Pucllana, Peru – Llamas, 2016
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Chullpa Botigiriayocc, Peru- Llamas, 2016
Tiwanaku culture, Tiwanaku, Bolivia – Llamas, 2016
Aceramic culture, Cueva Candelaria, Mexico – Llamas, 2016
Mexico, Peru, Ecuador, Colombia, Brazil – Gomez-Carballa 2015
Upward Sun River, Alaska – Tackney, 2015
Canary, Hispanic, Pima – Tackney 2015 supplement 1
Pichincha, Quito, Chimborazo, Guamote, Cotopaxi, Salcedo, Machachi, Azuay, Cuenca, Loja in Ecuador, Mestizo, Native Quitu-Cara/Cayambe and Native Puruha, also in Peru, 7 ancient and 16 contemporary, Mestizo – Brandini, 2017
Wintu tribal survivors, private correspondence to Roberta Estes, August 2019

C1b1

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico – Kumar
North America – Mishmar
Anzick Provisional Extract, Estes January 2015 – (1 C1b1)
Mexico in the Haplogroup C project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b1a

Mexico, USA – Gomez-Carballa, 2015

C1b1b

Mexico, USA – Gomez-Carballa 2015

C1bi

Gomez-Carbala, 2015, Complete Mito Genome of 500 Year Old Inca Child Mummy

C1b2

Hispanic – Parsons
Peru – Tito
Asia – Herrnstadt
Anzick Provisional Extract, Estes January 2015 – (27 C1b2)
Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Puerto Rico and Taino in the Haplogroup C project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Gomez-Carballa 2015
Lima in Peru, also Morona Santiago, Taisha, Loja, Pichincha, Quito in Ecudaor, Native Shuar, Native Cayambe, Mestizo – Brandini, 2017

C1b2a

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b2a1

Peru – Brandini, 2017

C1b2b

Puerto Rico – Gomez-Carballa 2015

C1b3

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Gran Chaco, Argentina – Sevini 2014
Hispanic – Parsons
Peru – Tito
Anzick Provisional Extract, Estes January 2015 – (1 C1b3)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA, Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b4

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Puerto Rico in the Haplogroup C project at Family Tree DNA
Hispanic – Parsons
Anzick Provisional Extract, Estes January 2015 – (6 C1b4)
Durango, Mexico from American Indian DNA Project at Family Tree DNA (November 2015)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Puerto Rico, USA – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b5

Achilli, 2008
Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b5a

Hispanic – Parsons
Mexican – Kumar
Mexico, USA – Gomez-Carballa 2015

C1b5b

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b6

Yanomama – Fagundes
Brazil – Gomez-Carballa 2015

C1b7

Mexican – Kumar
Anzick Provisional Extract, Estes January 2015 – (1 C1b7)
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico, Haplogroup C project at Family Tree DNA
Mexico, Mitosearch
Rumsen peoples, Monterey Mission, California – Breschini and Hversat
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b7a

Mexico – Haplogroup C project at Family Tree DNA,
Mexico – Mitosearch
Mexican – Kumar
Anzick Provisional Extract, Estes January 2015 – (1 C1b7a)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b7a1

Mexico, USA – Gomez-Carballa 2015

C1b7b

Mexico, USA – Gomez-Carballa 2015

C1b8

Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b8a

Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b8a1

Mexico, USA – Gomez-Carballa 2015

C1b9

Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b9a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b10

Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b10a

Mexico, USA – Gomez-Carballa 2015

C1b11

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Pima, Mexico – Hartman
Mexico – Kumar
Mexico – Zheng
Anzick Provisional Extract, Estes January 2015 – (5 C1b11)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b11a1

Mexico, USA – Gomez-Carballa 2015

C1b11b1

Mexico, USA – Gomez-Carballa 2015

C1b12

Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b12a

Mexico, USA – Gomez-Carballa 2015

C1b13

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade, Goncalves 2013
Chilean and Kolla – de Saint Pierre, Dec. 2012
Atacameno, Pehuenche, Mapuche, Huilliche, Kawesqar, Mapuche, Tehuelche and Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile, Argentina – Gomez-Carballa 2015

C1b13a

Huilliche and Chilean – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13a1

Huilliche and Chilean – de Saint Pierre. Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13a1a

Chile, Haplogroup C Project at Family Tree DNA, January 8, 2019

C1b13b

Huilliche, Chilean and Spain – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13c

Mapuche and Chilean – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1b13c1

Chilean and Penuenche – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13c2

Chile, Argentina – Gomez-Carballa 2015

C1b13d

Chilean – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b13e

Chilean – de Saint Pierre, Dec. 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chile – Gomez-Carballa 2015

C1b14

Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico, USA – Gomez-Carballa 2015

C1b11

Mexico in the Haplogroup C project at Family Tree DNA

C1b15

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b15a

Brazil – Gomez-Carballa 2015

C1b16

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b17

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b18

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b19

Peru – Gomez-Carballa 2015
Peru, 9 ancient and 2 contemporary – Brandini, 2017

C1b20

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b21

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b21a

Peru – Gomez-Carballa 2015
Peru, 2 ancient and 2 contemporary – Brandini, 2017

C1b22

Peru – Gomez-Carballa 2015
Peru – Brandini, 2017

C1b23

Loja, Tuncarta, Onacapa, Ganil, Catacocha in Ecuador, Native, Native Saraguro and Mestizo – Brandini, 2017

C1b24

Peru – Brandini, 2017

C1b25

Peru – Brandini, 2017

C1b26a

Tungurahua in Ecuador, Mestizo, also Peru – Brandini, 2017

C1b26a1

Peru – Brandini, 2017

C1b27

Peru, 1 ancient and 2 contemporary – Brandini, 2017

C1b28

Chimborazo, Alausi, Loja in Ecuador – Brandini, 2017

C1b29

Bolivar, Cotopaxi, Mana, Quito, Loja in Ecuador, Native and Mestizo – Brandini, 2017

C1ba

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

C1b-T16311C

Anzick Provisional Extract, Estes January 2015 – (1 C1b-T16311C)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c

Beringian Founder Haplogroup – 2008 Achilli
Arsario, Colombia – Fagundes 2008
Kogui, Colombia – Fagundes 2008
Kogui and Arsario
Mexican American – Kumar 2011
Kogui – Tamm 2007
Hispanic – Parsons
Canada – Achilli
Canada – Behar
Cherokee and Cuba in the Haplogroup C project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (34 C1c)
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Hispanic, Kogui, Arsario – Tackney 2015 supplement 1
Chimborazo, Riobamba in Ecuador, Mestizo, also in Peru, 4 ancient and 5 contemporary – Brandini, 2017

C1c1

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 C1c1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Chancay culture, Pasamayo, Peru – Llamas, 2016
Nasca culture, Juaranga, Peru – Llamas, 2016
Tiwanaku culture, Tiwanaku, Bolivia – Llamas, 2016

C1c1a

Asia – Herrnstadt
Pima, Mexico – Hartman and Lippold
Mexico – Zheng
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c1b

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico and USA – Behar
Mexico in the Haplogroup C project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (6 C1c1b)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c2

Achilli, 2008
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
HIspanic – Parsons
Mexico – Kumar
Cuba – FTDNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c3

Arsario and Kogui – Tamm
Colombia – Behar and Rieux
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c4

Dominica – Bravi
Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c5

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Hispanic – Parsons
Mexico – Kumar
Pima – Lippold
Mexico – Zheng
Mexico in the Haplogroup C project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (2 C1c5)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c6

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Mexico – Kumar and Behar
Hispanic – Just
Anzick Provisional Extract, Estes January 2015 – (7 C1c6)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Wintu tribe survivors, Wintu DNA Project at Family Tree DNA, August 2019

C1c7

Mexico – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c8

USA – Achilli
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1c8-A19254G, C16114T

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d

Beringian Founder Haplogroup – 2008 Achilli
Coreguaje – 2007 Tamm
Coreguaje, Colombia – Fagundes 2008
Tamaulipas and Guanajuato and Chihuahua and Kolla-Salta and Buenos Aires and Boyacá, Colombia and Mexico – Perego 2010
Chihuahua, Mexico, Salta, Argentina – Perego 2010
Mexican American – Kumar 2011
Anzick Provisional Extract, Estes January 2015 – (4 C1d)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Hispanic, Coreguaje – Tackney 2015 supplement 1

C1d-C194T

Mexico, and Argentina and Colombia – Perego,

C1d1

Warao, Venezuela – Ingman 2000
Rio Grande do Sul, Brazil and Lima, Peru and Buenos Aires and Loreta, Peru and Imbabura, Ecuador and Mestizos in Colombia and Minas Gerais, Brazil and Cajamarca, Peru and Huanucu,Peru and Puca Puca, Peru and Mato Grosso do Sul, Brazil and Chaco, Paraguay and Kolla-Salta and Piura, Peru and Huancavelica, Peru and Corrientes and Los Lagos, Chile and Oklahoma and Kuna Yala, Panama and Darien, Panama and Puerto Cabezas, Nicaragua and Eduador and Uruguay and Nicaragua – Perego 2010
Fagundes 2008
Tamm, 2007
Coreguaje – Tamm
Warao – Ingman
American – Kivisild
Hispanic – Parsons
Brazil – Rieux
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Loja, Ganil in Ecuador, Mestizo, also Lima in Peru and 1 ancient sample – Brandini, 2017

C1d1a

Sonora and Mexico – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1a1

Oklahoma and Montana and Quebec and Zacatecas – Perego 2010
Canada-Cree – Rieux
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1b

Argentina and Kolla-Salta and Diaguita-Catamarca and Buenos Aires and Rio negro and Corrientes and Flores, Uruguay – Perego 2011
Rio Grande do Sul, Brazil, Buenos Aires, Argentina, Loreto, Peru, Minas Gerais, Brazil, Cajamarca, Peru, Huánuco, Peru, Puca Pucara, Peru, Chaco, Paraguay, Huancavelica, Peru, Los Lagos, Chile, Panama – Perego 2010
Gran Chaco, Argentina – Sevini 2014
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1b1

Argentina – Perego
Buenos Aires, Argentina, Rio Negro, Argentina, Buenos Aires, Argentina – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1c

Oaxaca and Mexico – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1c1

Just 2008
Texas and Michigan – Perego 2010
Kumar 2011
Hispanic – Parsons
Mexican – Kumar
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d1d

Buenos Aires and Rio Grande do Sul, Brzil and Uruguay and Argentina – Perego 2010
Buenos Aires, Argentina, Rio Grande do Sul, Brazil, Uruguay – Perego 2010
Coreguaje – Tamm
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Pichincha, Conocoto in Ecuador, Native Quitu-Cara – Brandini, 2017

C1d1e

Bio-Bio, Chile and Rio Negro – Perego 2010
Biobio, Chile, Rio Negro, Argentina – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Peru – Brandini, 2017

C1d1f

Imbabura, Pichincha, Ruminahui, Quito, Cotopaxi in Ecuador, Mestizo – Brandini, 2017

C1d2

Mestizos in Colombia – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d2a

Mestizos in Colombia – Perego 2010
Mestizo, Colombia – Perego 2010
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d3

Uruguay – Sans
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1d-C194T

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C1e

Icelandic – Tackney 2015 supplement 1

Mexican – 2007 Peñaloza-Espinosa

C2b

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

2007 Tamm
Anzick Provisional Extract, Estes January 2015 – (4 C4 with no subgroup)
Chippewa – White Earth Reservation, Minnesota – private test at 23andMe
Inupiat people from Alaska North Slope – Raff 2015
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4a

Native American and Siberian, Kumar 2011
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4a1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Buryat and Eleeut – Derenko
India and Russia and Turkey – FTDNA
India in the Haplogroup C project at Family Tree DNA

C4b

Kumar 2011
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c

Beringian Founder Haplogroup – 2008 Achilli

2007 Tamm – found in only 2 samples, an Ijka sample from South America and a Shuswap speaker from North America,
Shuswap Speaker, North America – Malhi 2010 (Suswap is now C4c1)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Suswap – Malhi
N American – Kashani
Anzick Provisional Extract, Estes January 2015 – (1 C4c1)
Chippewa Cree, Jasper House, Alberta, Canada (1835), FTDNA American Indian Project
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c1a

North American – Kashani, Cherokee in the Haplogroup C project at Family Tree DNA
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c1b

North American – Kashani
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4c2

North American – Kashani
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

C4e

Uika – Tamm 2007
Shor and Teleut – Derenko
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

Haplogroup D

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Choctaw and Korea and Japan and Mexico and Venezuela found in the Haplogroup D project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (7 D with no subgroup)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ychsma culture, Huaca Pucllana, Peru – Llamas, 2016
Lima culture, Huaca Pucllana, Peru – Llamas, 2016
Chile, Haplogroup D Project at Family Tree DNA, January 8, 2019
Please note that not all haplogroup D without a subgroup is Native American

Native, Beringian Founder Haplogroup – 2008 Achilli
Coreguaje – 2007 Tamm
Mexican – 2007 Peñaloza-Espinosa
Hispanic American – 2008 Just
Mexican American – Kumar 2011
North American – Henstadt 2008 and Achilli 2008
Katuena and Poturujara and Surui and Tiryo and Waiwai and Zoro and Gaviao and Guarani/Rio-das-Cobras – Fagundes 2008
Gaviao, Brazil, Surui, Brazil, Waiwai, Brazil, Katuena, Brazil, Poturujara, Brazil, Tiryo, Brazil – Fagundes 2008
Karitiana, Brazil – Hartmann 2009
Guarani – Ingman 2000
Native American – Mishmar 2003
Guarani and Brazilian and Que Chia and Pima Indian – Kivisild 2006
British Colombia found in the Haplogroup D project at Family Tree DNA
Anzick Provisional Extract, Estes January 2015 – (59 D1)
D1 from 12,000-13,000 skeletal remains found in the Yukatan, Chatters et al 2014, Chatters et al 2015
Gran Chaco, Argentina – Sevini 2014
Chumash, Rumsen, Yokuts, Tubatulabal, Mono, Gabrielino – Breschini and Haversat 2008
Aymara, Atacameno, Huilliche, Kawesqar, Mapuche, Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
Rio Negro, Argentina, Buenos Aires, Argentina, Tarapaca, Chile, Maule, Chile, Atacama, Chile, Mapuche, Argentina, Biobio, Chile, Cordoba, Argentina, Valparaiso, Chile – Bodner 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Ychsma culture, Huaca Pucllana, Peru – Llamas, 2016
Inca culture, Pueblo Viejo, Peru – Llamas, 2016
Chancay culture, Pasamayo, Peru – Llamas, 2016
Loja in Eduador, Mestizo, also several Peru, Mestizo and 3 ancient samples

D1a

Achilli, 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Columbia, Haplogroup D Mitochondrial Project at Family Tree DNA, January 8, 2019

D1a1

Brazil – Kivisild 2006

D1a1a1

Aleut – 2008 Volodko
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1a2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1b

Achilli, 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1c

Achilli, 2008
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1d

Achilli, 2008, Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (2 D1d)
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1d1

Mexico, Haplogroup D Project at Family Tree DNA, January 8, 2019

D1d2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1f

Kumar 2011
New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Loja, Pichincha, quito, Cotopaxi, Cusubamba, Calvas in Ecuador, Mestizo and Native Panzaleo (Quincha), also Peru – Brandini, 2017
Coreguaje of Colombia – Tamm, 2007

D1f1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Waiwai, Katuena and Tiryo of Brazil – Faguendes, 2008
Venezuela – Brandini, 2017
Karitiana of Brazil – Zheng, 2014, direct submission

D1f2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Colombia – HGDP

D1f3

New Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – Kumar, 2011

D1g

Found in skeletal remains of the now extinct Botocudos (Aimores) Indians of Brazil, thought to perhaps have arrived from Polynesia via the slave trade, Goncalves 2013
Aymara, Pehuenche, Mapuche, Huilliche, Mapuche, Tehuelche, Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g1

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g1a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g2

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g2a

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g3

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g4

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g5

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1g6

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1h

New Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1i

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1i2

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1j

Gran Chaco, Argentina – Sevini 2014

D1j1a

Gran Chaco, Argentina – Sevini 2014
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1j1a1

Gran Chaco, Argentina – Sevini 2014

D1k

Native American Mitochondrial DNA Haplogroups, Estes, 2017
Mexico – HGDP
Hispanic – Just, 2008
Mexico – Kumar, 2011

D1k1

Peru – Brandini, 2017
Hispanic – Just, 2015

D1k1a

Peru – Brandini, 2017

D1m

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D1n

Mexico, Haplogroup D Project at Family Tree DNA, January 8, 2019

D1o

Peru, 1 ancient and several contemporary – Brandini, 2017

D1p

Peru – Brandini, 2017

D1q

Peru – Brandini, 2017

D1q1

Peru – Brandini, 2017

D1r

Peru, Mestizo – Brandini, 2017

D1r1

Peru – Brandini, 2017

D1s

Peru – Brandini, 2017

D1s1

Peru – Brandini, 2017

D1t

Peru – Brandini, 2017

D1u

Peru, ancient sample – Brandini, 2017

D1u1

Peru, Mestizo – Brandini, 2017

Aleut, Commander Islands and Eskimo, Siberia – 2002 Derbeneva
2007 Tamm
Mexican – 2007 Peñaloza-Espinosa
Tlingit, Commander Island – Volodko 2008
Inupiat people from Alaska North Slope, ancient Paleo-Eskimos – Raff 2015
Miwok – Breschini and Haversat 2008
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a

NaDene – 2002 Derbeneva
2008 Achilli
Eskimo in Siberia – Tamm 2007
Late Dorset ancient sample, Tlingit (Commander Island) – Dryomov 2015
Inupiat people from Alaska North Slope – Raff 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a1

Aleut Islanders and northernmost Eskimos, Saqqaq Ancient sample, Middle Dorset ancient sample – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a1a

Aleut – 2008 Volodko
Aleut – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017
Commander Islands – 2008 Volodko (100%)

D2a1b

Sireniki (Russian) Eskimo – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2a2

Chukchi – Derenko, Ingman, Tamm and Volodko
Eskimo – Tamm and Volodko
Siberia – Derbeneva
Eskimos and Chikchi – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2b

2007 Tamm
Aleut 2002
Derbeneva, Russia – Derenko
Siberian mainland cluster – Dryomov 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D2c

Eskimo – 2002 Derbeneva
Native American Mitochondrial DNA Haplogroups, Estes, 2017

Inuit – 2008 Achilli
2007 Tamm
Inupiat people from Alaska North Slope (noted as currently D4b1a) – Raff 2015
Ancient Neo-Eskimos, Kitanemuk, Kawaiisu – Breschini and Haversat 2008
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D3a2a

Greenland – 2008 Volodko

D3a2a

Canada – 2008 Volodko

2007 Tamm
Cayapa, Ecuador – Fagundes 2008
Anzick Provisional Extract, Estes January 2015 – (2 D4)
Chumash – Breschini and Haversat 2008
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4b1

Anzick Provisional Extract, Estes January 2015 – (1 D4b1)

D4b1a

Inupiat people from Alaska North Slope (noted as formerly D3), ancient Neo-Eskimos – Raff 2015
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4b2a2

Anzick Provisional Extract, Estes January 2015 – (1 D4b2a2)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4e1

Mexican American – Kumar 2011
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4e1a1

Anzick Provisional Extract, Estes January 2015 – (1 D4e1a1)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4e1c

Kumar 2011 – found in Mexican Americans (2 sequences only)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4g1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h1a1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h1a2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3

Beringian Founder Haplogroup – 2008 Achilli
2007 Tamm
Anzick Provisional Extract, Estes January 2015 – (1 D4h3)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a

Veracruz, Mexico, Arequipa, Peru, Loreto, Peru, Ancash, Peru, San Luis Potosi, Mexico, Maranhao, Brazil – Perego 2009
Mexican American – Kumar 2011
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (2 D4h3a)
Raff and Bolnick, Nature February 2014 – Anzick’s haplogroup
Remains from On Your Knees Cave in Alaska, Chatters, 2015
Gran Chaco, Argentina – Sevini 2014
Aymara, Mapuche, Huilliche, Kawesqar, Tehuelche, Yamana in Chile and Argentina, South America – de Saint Pierre, 2012
Native American Mitochondrial
DNA Haplogroups, Estes, 2017
On Your Knees Cave, Alaska, 10,300 YPB – Lindo 2017
Peru and Ecuador, Cayapa and Mestizo – Brandini, 2017

D4h3a1

Coquimbo, Chile, O’Higgins, Chile, Coquimbo, Chile, Santiago, Chile, Los Lagos, Chile, Bio-Bio, Chile – Perego 2009

D4h3a1a

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a1a1

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a2

Gran Chaco, Argentina – Sevini 2014

D4h3a3

Chihuahua, Mexico, Tarahumara, Mexico, Nuevo Leon, Mexico – Perego 2009

D4h3a4

Arequipa, Peru – Perego 2009
Peru – Brandini, 2017

D4h3a5

Maule, Chile, Los Lagos, Chile, Santiago, Chile – Perego 2009
Equador and Peru – Brandini, 2017

D4h3a6

Native American Mitochondrial DNA Haplogroups, Estes, 2017
Cotopaxi, Farahugsha in Ecuador, Native Panazleo (Quincha), also Peru – Brandini, 2017

D4h3a7

British Columbia ancient sample 939, may be extinct – Ciu 2013
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a8

Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4h3a9

Peru – Brandini, 2017

D4h3a11

Peru – Brandini, 2017

D4j

Anzick Provisional Extract, Estes January 2015 – (2 D4j)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D4j8

Gran Chaco, Argentina – Sevini 2014

Cahuilla – Breschini and Haversat 2008

D5a2a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

D5b1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

Costanoan – Breschini and Haversat 2008

Chumash – Breschini and Haversat 2008

Vanyume – Breschini and Haversat 2008

Yokats – Breschini and Haversat 2008

D10

Salinan – Breschini and Haversat 2008

Haplogroup F

F1a1

Native American Mitochondrial DNA Haplogroups, Estes, 2017 – Mexico in American Indian Project

Haplogroup M

Discovered in prehistoric sites, China Lake, British Columbia – 2007 Malhi
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

Native American Mitochondrial DNA Haplogroups, Estes, 2017- Probably Native

M1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M1a1b

Anzick Provisional Extract, Estes January 2015 – (1 M1a1b)

M1a1e

USA – Olivieri
Many Eurasian in Genbank

M1b1

Anzick Pr ovisional Extract, Estes, September 2014, kits F999912 and F999913

M2a3

Anzick Provisional Extract, Estes January 2015 – (1 M2a3)

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M5b3e

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M7b1’2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 M7b1’2)

M9a3a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M18b

Native American Mitochondrial DNA Haplogroups, Estes, 2017

M23

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913,
Madagascar – Recaut and Debut, Madagascar Motif

M30c

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

M30d1

Anzick Provisional Extract, Estes January 2015 – (1 M30d1)

M51

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

Haplogroup X

A founding lineage – found in ancient DNA Washington State – 2002 Malhi
2007 Tamm
Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a

Native, Beringian Founder Haplogroup – 2008 Achilli
2007 Tamm
2000 Schurr
Newfoundland found in the Haplogroup X project at Family Tree DNA
Kennewick Man
Saskatchewan, Norway House in Manitoba, Ontario, Pasadena in California, Chihuahua in Mexico – 2016 Haplogroup X Project at Family Tree DNA
Estes X2a (2016)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1

Chippewa – Fagundes
Ojibwa – Achilli and Perego
Canadian Ojibwa – Rieux
Indian Territory – American Indian project at Family Tree DNA
Estes X2a (2016)
Virginia, Manitoba, Manitolin Island on the border between the US and Canada – Haplogroup X Project at Family Tree DNA
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Sioux and USA – Perego
Anzick Provisional Extract, Estes January 2015 – (1 X2a1a)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1a1

Jemez and Siouian – Fagundes
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1b

Western Chippewa – Fagundes
USA and Obijwa – Perego
Edmonton, Alberta and Selkirk, Manitoba – Haplogroup X Project at Family Tree DNA
Estes X2a (2016)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1b1

USA – Perego
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1b1a

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Western Chippewa and Chippewa – Fagundes
Anzick Provisional Extract, Estes January 2015 – (2 X2a1b1a)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a1c

Western Chippewa – Fagundes
USA – Perego
La Pointe, Wisconsin and St. Ignace, Michigan – Haplogroup X Project at Family Tree DNA
Estes X2a (2016)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2a2

Navajo – Mishmar
USA – Perego
Anzick Provisional Extract, Estes January 2015 – (1 X2a2)
Manawan in Quebec, Newfoundland Island, Cape Breton, Nova Scotia, Newfoundland and Labrador – Haplogroup X Project at Family Tree DNA
Estes X2a (2016)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2b

European – note that 2008 Fagundes removed a sample from their analysis because they believed X2b was indeed European not X2a Native
Anzick Provisional Extract, Estes January 2015 – (2 X2b)
Native American Mitochondrial DNA Haplogroups, Estes, 2017

X2b-T226C

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 X2b-T226T confirmed Irish, not Native)

X2b3

America – Kivisild

X2b4

European, not Native American, Estes, September 2016
Native American Mitochondrial DNA Haplogroups, Estes, 2017 – not Native

X2b5

Not Native American – Cherokee DNA Project

X2b7

Native American Mitochondrial DNA Haplogroups, Estes, 2017 – Not Native

X2c

Native American Mitochondrial DNA Haplogroups, Estes, 2017 – not Native

X2c1

Native American Mitochondrial DNA Haplogroups, Estes, 2017 – not Native

X2c2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913

X2d

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Native American Mitochondrial DNA Haplogroups, Estes, 2017- probably not Native

X2e1

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Behar notes two submissions at mtdnacommunity that are likely European
2 confirmed X2e1 from Valcea , Romania at Family Tree DNA
Native American Mitochondrial DNA Haplogroups, Estes, 2017 – probably not Native

X2e2

Anzick Provisional Extract, Estes, September 2014, kits F999912 and F999913
Anzick Provisional Extract, Estes January 2015 – (1 X2e2)
Native American Mitochondrial DNA Haplogroups, Estes, 2017 – probably not Native

X2g

Identified in single Ojibwa subject – Achilli 2013
Ojibwa – Perego

X2e

Altai people, may have arrived from Caucus in last 5000 years

X2e1

Isle of Wight County, Virginia – – American Indian project at Family Tree DNA
Estes X2a (2016)

Found in the Tarahumara and Huichol of Mexico, 2007 Peñaloza-Espinosa

MtDNA References

Mitochondiral genome variation and the origin of modern humans, Ingman et al, Natuer 2000, http://www.nature.com/nature/journal/v408/n6813/full/408708a0.html

Mitochondrial DNA and the Peopling of the New World, Theodore Schurr, American Scientist, 2000, http://www.sas.upenn.edu/~tgschurr/pdf/Am%20Sci%20Article%202000.pdf

Brief Communication: Haplogroup X Confirmed in Prehistoric North America, Ripan Malhi et al, American Journal of Physical Anthropology, 2002, http://deepblue.lib.umich.edu/bitstream/handle/2027.42/34275/10106_ftp.pdf

Analysis of Mitochondrial DNA Diversity in the Aleuts of the Commander Islands and Its Implications for the Genetic History of Beringia, Olga Derbeneva et al, American Journal of Human Genetics, June 2002, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379174/

High Resolution SNPs and Microsatellite Haplotypes Point to a Single, Recent Entry of native American Y Chromosomes into the Americas, Zegura et al, Oxford Journals, 2003, http://mbe.oxfordjournals.org/content/21/1/164.full.pdf

Ancient DNA – Modern Connections: Results of Mitochondrial DNA Analyses from Monterey County, California by Gary Breschini and Trudy Haversat published in the Pacific Coast Archaeological Society Quarterly, Volume 40, Number 2, (written 2004 although references are later than 2004, printed 2008)

Ancient individuals from the North American Northwest Coast reveal 10,000 years of regional genetic continuity by John Lindo et al, published in PNAS April 2017

Mitochondrial haplogroup M discovered in prehistoric North Americans, Ripan Malhi et al, Journal of Archaeological Science 34 (2007), http://public.wsu.edu/~bmkemp/publications/pubs/Malhi_et_al_2007.pdf

Beringian Standstill and Spread of Native American Founders, Erika Tamm et al, PLOS One, September 2007, http://www.plosone.org/article/info:doi/10.1371/journal.pone.0000829

Characterization of mtDNA Haplogroups in 14 Mexican Indigenous Populations, Human Biology, 2007

Achilli A, Perego UA, Bravi CM, Coble MD, et al. (2008) The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies. PLoS ONE 3(3): e1764. doi:10.1371/journal.pone.0001764 http://www.plosone.org/article/info:doi/10.1371/journal.pone.0001764

Complete mitochondrial genome sequences for 265 African American and US “Hispanic” individuals, Forensic Science Int. Genetics, 2 e45-e48, 2008, Just et al

Mitochondrial population genomics supports a single pre-Clovis origin with a coastal route for the peopling of the Americas, American Journal of Human Genetics, 82, 583-592, 2008 Fagundes et al

The Phylogeny of the Four Pan-American MtDNA Haplogroups: Implications for Evolutionary and Disease Studies, Achilli et al, PLOS, March 2008, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0001764

Mitochondrial genome diversity in arctic Siberians with particular reference to the evolutionary history of Beringia and Pleistocenic peopling of the Americans, Natalia Volodko, et al, American Journal of Human Genetics, June 2008 http://www.ncbi.nlm.nih.gov/pubmed/18452887

A Reevaluation of the Native American MtDNA Genome Diverstiy and Its Bearing on the Models of Early colonization of Beringia, Fagundes et al, PLOS One, Sept. 2008, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0003157

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes, Hum. Mutat. 30, 115-122, (2009)H Hartmann et al

Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups, Current Biology 19 1-8 (2009) Perego et al

Initial peopling of the Americas: A growing number of founding mitochondrial genomes from Beringia, Genome Research 20, 1174-1179, 2010 Perego et al

Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins, Kumar et al, Congress of the European Society for Evolutionary Biology, October 2011, http://www.biomedcentral.com/1471-2148/11/293

Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins, Kumar et al, 2011, Evolutionary Biology, http://www.biomedcentral.com/1471-2148/11/293/

Decrypting the Mitochondrial Gene Pool of Modern Panamanians, Ugo Perrego, et al, PLOS One, June 2012, http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0038337

An Alternative Model for the Early Peopling of Southern South America Revealed by Analyses of Three Mitochondrial DNA Haplogroups, de Saint Pierre et al, 2012, PLOS

Rapid coastal spread of first Americans: Novel insights from South America’s Southern Cone mitochondrial genomes, Genome Research 22, 811-820, 2012, Bodner et al

Arrival of Paleo-Indians to the Southern Cone of South America: New Clues from Mitogenomes, de Saint Pierre et al, Dec. 2012, PLOS

Genetic uniqueness of the Waorani tribe from the Ecuadorian Amazon, Heredity 108, 609-615, 2012, Cardoso et al

Reconciling migration models to the Americas with the variation of North American native mitogenomes, Alessandro Achjilli et al, PNAS Aug. 2013, http://www.pnas.org/content/early/2013/08/08/1306290110.full.pdf+html

Ancient DNA Analysis of Mid-Holocene Individuals from the Northwest Coast of North America Reveals Different Evolutionary Paths for Mitogenomes, Yinqui Ciu et al, PLOS One, July 2013 http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0066948

Identification of Polynesian mtDNA haplogroup in remains of Botocudo Americndians from Brazil, Goncalves et al, 2013, PNAS http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631640/

Late Pleistocene Human Skeleton and mtDNA Link Paleoamericans and Modern Native Americans” by James Chatters et al, May 2014, Science

Genetic roots of the first Americans, Raff and Bolnick, (February 2014), Nature

Late Pleistocene Human Skeleton and mtDNA Link Paleoamericans and Modern native Americans by Chatters, et al, Science, Vol 244, May 16, 2014

Two ancient genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil, by Malaspinas et al, Current Biology, November 2014

Botocudo Ancient Remains from Brazil, by Roberta Estes, July 2015

Two contemporaneious mitogenomes from terminal Pleistocene burials in eastern Beringia, Tackney et al, 2015, PNAS

The complete mitogenome of 500-year old Inca child mummy, 2015, Nature, Gomez-Carballa et al

Does Mitochondrial Haplogroup X Indicate Ancient Trans-Atlantic Migration to the Americas? A Critical Re-Evaluation, 2015, PubMed, Raff and Bolnick

Mitochondrial diversity of Iñupiat people from the Alaskan North Slope provides evidence for the origins of the Paleo- and Neo-Eskimo peoples by Raff et al, (April 17, 2015) American Journal of Physical Anthropology http://onlinelibrary.wiley.com/doi/10.1002/ajpa.22750/
http://www.eurekalert.org/pub_releases/2015-04/nu-dsa042715.php

Mitochondrial genome diversity at the Bering Strait area highlights prehistoric human migrations from Siberia to northern North America – Dryomov et al, European Journal of Human Genetics, 2015

MtDNA Haplogroup A10 Lineages in Bronze Age Samples Suggest That Ancient Autochthonous Human Groups Contributed to the Specificity of the Indigenous West Siberian Population by Pilipenko, et al, PLOS One, 2015

A Reappraisal of the early Andean Human Remains from Lauricocha in Peru by Fehren-Schmitz et al, PLosS ONE 10 (6)(2105)

Ancestry and affiliations of Kennewick Man by Rasmussen et al, Nature, June 18, 2015

Ancient mitochondrial DNA provides high-resolution time scale of the peopling of the Americas, Llamas et al, Science Advances April 1, 2016 Vol. 2 No. 4, e1501385 http://advances.sciencemag.org/content/2/4/e1501385

Native American Haplogroup X2a – Solutrean, Hebrew or Beringian?, 2016, Estes

X2b4 is European, Not Native American, Estes, September 2016

‘Human mitochondrial genomes reveal population structure and different phylogenies in Gran Chaco (Argentina)’ by Sevini, F., Vianello, D., Barbieri, C., Iaquilano, N., De Fanti, S., Luiselli, D., Franceschi, C. and Franceschi, Z., sequences submitted to GenBank in January 2016 from 2014 unpublished paper

Archaeogenomic evidence reveals prehistoric matrilineal dynasty by Kennett et al, 2017, Nature Communications

New Native American Mitochondrial Haplogroups by Roberta Estes, March 2, 2017

DNA from Pre-Clovis Human Coprolites in Oregon, North America by M. Thomas P. Gilbert et al, published in Science May 9, 2008

The Paleo-Indian Entry into South America According to Mitogenomes by Brandini, et al, Molecular Biology and Evolution, Volume 35, Issue 2, February 2018, Pages 299–311

Mitochondrial DNA Diversity in Indigenous Populations of the Southern Extent of Siberia, and the Origins of the Native American Haplogroups by Elena B. Starikovskaya et al, Annals of Human Genetics, January 2005 (only haplogroup B5 posted above)

Locals, resettlers, and pilgrims: A genetic portrait of three pre‐Columbian Andean populations. American Journal of Physical Anthropology, Baca, M., Molak, M., Sobczyk, M., Węgleński, P., & Stankovic, A. (2014). 154(3), 402-412

“Brief communication: Molecular analysis of the Kwäday Dän Ts’ finchi ancient remains found in a glacier in Canada.” Monsalve, M. Victoria, et al., American Journal of Physical Anthropology: The Official Publication of the American Association of Physical Anthropologists 119.3 (2002): 288-291

Ancient DNA reveals kinship burial patterns of a pre-Columbian Andean community, Baca, M., Doan, K., Sobczyk, M., Stankovic, A., & Węgleński, P. (2012) BMC genetics, 13(1), 30.

Ancient human parallel lineages within North America contributed to a coastal expansion. Scheib, C. L., Li, H., Desai, T., Link, V., Kendall, C., Dewar, G., … & Kerr, S. L. (2018). Science, 360(6392), 1024-1027.

Paleogenetical study of pre‐columbian samples from Pampa Grande (Salta, Argentina), Carnese, F. R., Mendisco, F., Keyser, C., Dejean, C. B., Dugoujon, J. M., Bravi, C. M., … & Crubézy, E. (2010), American Journal of Physical Anthropology: The Official Publication of the American Association of Physical Anthropologists, 141(3), 452-462

A re-appraisal of the early Andean human remains from Lauricocha in Peru. Fehren-Schmitz, L., Llamas, B., Lindauer, S., Tomasto-Cagigao, E., Kuzminsky, S., Rohland, N., … & Nordenfelt, S. (2015), PloS one, 10(6), e0127141.

Reconstructing the deep population history of Central and South America. Posth, C., Nakatsuka, N., Lazaridis, I., Skoglund, P., Mallick, S., Lamnidis, T. C., … & Broomandkhoshbacht, N. (2018), Cell, 175(5), 1185-1197.

Ancient mitochondrial DNA provides high-resolution time scale of the peopling of the Americas. Llamas, B., Fehren-Schmitz, L., Valverde, G., Soubrier, J., Mallick, S., Rohland, N., … & Romero, M. I. B. (2016). Science advances, 2(4), e1501385.

A Paleogenomic Reconstruction of the Deep Population History of the Andes. Nakatsuka, N., Lazaridis, I., Barbieri, C., Skoglund, P., Rohland, N., Mallick, S., Posth, C., et al. (2020), Cell, 181 (5), 1131-1145.e21.

A genetic history of the pre-contact Caribbean. Fernandes, D. M., Sirak, K. A., Ringbauer, H., Sedig, J., Rohland, N., Cheronet, O., … & Adamski, N. (2020), bioRxiv

Genomic insights into the early peopling of the Caribbean. Nägele, K., Posth, C., Orbegozo, M. I., de Armas, Y. C., Godoy, S. T. H., Herrera, U. M. G., … & Laffoon, J. (2020). Science.

El análisis genético de paleo-colombianos de Nemocón, Cundinamarca proporciona revelaciones sobre el poblamiento temprano del Noroeste de Suramérica. Díaz-Matallana, M., Gómez Gutiérrez, A., Briceño, I., & Rodríguez Cuenca, J. V. (2016). Rev. Acad. Colomb. Cienc. Ex. Fis. Nat., 40(156), 461-483.

Genomic evidence for the Pleistocene and recent population history of Native Americans, Raghavan, M., Steinrücken, M., Harris, K., Schiffels, S., Rasmussen, S., DeGiorgio, M., … & Eriksson, A. (2015). Science, 349(6250).

Early human dispersals within the Americas. Moreno-Mayar, J. V., Vinner, L., de Barros Damgaard, P., De La Fuente, C., Chan, J., Spence, J. P., … & Rasmussen, S. (2018). Science, 362(6419).

Genetic continuity after the collapse of the Wari empire: Mitochondrial DNA profiles from Wari and post‐Wari populations in the ancient Andes. Kemp, B. M., Tung, T. A., & Summar, M. L. (2009). American Journal of Physical Anthropology: The Official Publication of the American Association of Physical Anthropologists, 140(1), 80-91

Aportes genéticos para el entendimiento de la organización social de la comunidad Muisca Tibanica (Soacha, Cundinamarca). Pérez, L., 2015. Ph.D. Dissertation, Departamento de Ciencias Biológicas, Universidad de los Andes, Bogotá, Colombia.

Genetic diversity of a late prehispanic group of the Quebrada de Humahuaca, northwestern Argentina. Mendisco, F., Keyser, C., Seldes, V., Rivolta, C., Mercolli, P., Cruz, P., … & Ludes, B. (2014). Annals of Human Genetics, 78(5), 367-380.

Linajes mitocondriales en muestras de Esquina de Haujra (Jujuy, Argentina): Aportes al estudio de la ocupación incaica en la región y la procedencia de sus habitantes. Russo, M. G., Gheggi, M. S., Avena, S. A., Dejean, C. B., & Cremonte, M. B. (2016).

Linajes maternos en muestras antiguas de la Puna jujeña: Comparación con estudios de la región centrosur andina. Postillone, M. B., Fuchs, M. L., Crespo, C. M., Russo, M. G., Varela, H. H., Carnese, F. R., … & Dejean, C. B. (2017). Revista Argentina de Antropología Biológica, 19(1), 3.

Palaeo-Eskimo genetic ancestry and the peopling of Chukotka and North America. Flegontov, P., Altınışık, N.E., Changmai, P. et al. Nature 570, 236–240 (2019)

A paleogenetic perspective of the Sabana de Bogotá (Northern South America) population history over the Holocene (9000–550 cal BP). Delgado, M., Rodríguez, F., Kassadjikova, K., & Fehren-Schmitz, L. (2020). Quaternary International. In Press, Journal Pre-proof

Integration of ancient DNA with transdisciplinary dataset finds strong support for Inca resettlement in the south Peruvian coast. Bongers, J. L., Nakatsuka, N., O’Shea, C., Harper, T. K., Tantaleán, H., Stanish, C., & Fehren-Schmitz, L. (2020). Proceedings of the National Academy of Sciences

The population history of northeastern Siberia since the Pleistocene. Sikora, M., Pitulko, V.V., Sousa, V.C. et al. Nature 570, 182–188 (2019)

A Minimally Destructive Protocol for DNA Extraction from Ancient Teeth. Harney, É., Cheronet, O., Fernandes, D. M., Sirak, K., Mah, M., Bernardos, R., … & Oppenheimer, J. (2020). bioRxiv

A dynamic 6,000-year genetic history of Eurasia’s Eastern Steppe. Jeong, C., Wang, K., Wilkin, S., Taylor, W. T. T., Miller, B., Ulziibayar, S., … & Kradin, N. (2020). bioRxiv

Y Chromosome analysis of prehistoric human populations in the West Liao River Valley, Northeast China. Cui, Y., Li, H., Ning, C. et al., BMC Evol Biol 13, 216 (2013)

Mitochondrial lineage A2ah found in a pre‐Hispanic individual from the Andean region. Russo, M. G., Dejean, C. B., Avena, S. A., Seldes, V., & Ramundo, P. (2018). American Journal of Human Biology, 30(4), e23134.

A Paleogenomic Reconstruction of the Deep Population History of the Andes. Nakatsuka et al, Cell, May 7, 2020

Archaeogenomic evidence reveals prehistoric matrilineal dynasty. Kennett et al, Nature Communications (February 2017)

New Evidence of Ancient Mitochondrial DNA of the Southern Andes (Calchaqui Valleys, Northwest Argentina, 3,600-1,900 Years before Present). Parolin et al, Human Biology, (Fall 2019) Vol 91, No. 4, pages 225-247

Biological kinship in 750 year old human remains from Central Argentina with signs of interpersonal violence. Nores et al, Forensic Science, Medicine and Pathology, September 11, 2020

The Role of Selection in the Evolution of Human Mitochondrial Genomes, Kivisild et al, Genetics January 1, 2006, Volume 172, Issue 1

Please note that submissions styled with the researcher’s surname and no paper date, such as “Chippewa – Perego” are from GenBank submissions and are cited as recorded at GenBank.

Page History

Updated September 26, 2014
Updated December 6, 2014 – Anzick data, please note that I only added extracted information for haplogroups where no academic publication had previously identified the haplogroup as Native
Updated December 7, 2014 – GenBank submissions utilizing Ian Logan’s GenBank by Haplogroup Program and Haplogroup A, A2, A4, B, C, D, M and X projects at Family Tree DNA
Updated January 2, 2015 – added kit numbers to 2014 Anzick extracted data
Updated January 8, 2015 with haplogroups from Dryomov et al, Chatters et al
Updated January 9, 2015 with Anzick extraction, including the number of results for each haplogroup. In the previous Anzick extraction, I only added haplogroups that were not identified previously in academic papers. In this extraction, I included all haplogroup A. B, C, D, M and X that were not excluded based on e-mail communications with kit owners that would exclude their results based on their family genealogy or geography.
Updated April 29, 2015 with results of 2015 Raff study, Estes, Haplogroup A4 Unpeeled study, Raff and Bolnick 2014 and a few private test results
Updated May 20, 2015 with A10 results from Pilipenko 015
Updated June 19, 2015 with Kennewick Man and results from Chatters paper
Updated June 30, 2015 with Fehren-Schmitz paper
Updated July 4, 2015 with Malaspinas paper regarding full genome sequencing of Botocudo
Updated July 12, 2015 haplogroup C1b7 and C1b7a information
Updated November 11, 2015 with Tackney, 2015 and Gomez-Carbala, 2015, information
Updated February 2, 2015, X2a Estes paper and C4c1 American Indian Project
Updated August 30, 2016 Botocudo Remains
Updated September 14, 2016, haplogroup X2b4
Updated January 16, 2017 with Sevini’s haplogroups from Gran Chaco, Argentina
Updated February 25, 2017 with Kennett’s B2y1 haplogroup from Kennett’s paper
Updated February 28, 2017 Monterey, California burials by Breschini and Haversat
Updated March 3, 2017 with de Saint Pierre, 2012
Updated March 3, 2017 to bulletized format
Updated March 3, 2017 with New Native American Mitochondrial DNA Haplogroups by Estes
Updated March 26, 2017 added haplogroup B2r
Updated April 27, 2017 to add Llamas 2016 ancient DNA sequences
Updated April 27, 2017 to add Fagundes (2008), Ingman (2000), Just (2008), Perego (2009), Hartmann (2009), Perego (2010), Bodner (2012), Cardoso (2012), Achilli (2013)
Updated January 9, 2018 to add Gomez-Carballa 2015 Figure 2 C1b clades
Updated February 4, 2018 to add ancient locations from Cui 2008 paper and all references from Tackney 2015 paper
Updated August 5, 2019 to add locations from Brandini 2017 paper
Updated January 2020, added information about B5b2, B5b2a
Updated October 25, 2020, added Cherokee B2o
Updated March and April 2021 with sources and additional haplogroup A and subgroup

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Why DNA Test?

Posted on September 15, 2013 by Roberta Estes

Sometimes I receive a question that just stops me in my tracks. This past week, when a very experienced genealogist ask me “Why do you guys DNA test anyway?,” I was so dumbstruck as to be almost speechless. Well, almost, but not quite, and I recovered quickly.

I did manage to stifle the urge to say “because we can,” but there would have been some truth in that statement.

For me, DNA testing is just a fact of life, ingrained into every molecule of my being, so I had to think a bit before answering.

Why do we do this anyway???

Because we can! Ok, I just had to say it, to get it out of my system. But in reality, it’s true, because you don’t know what you don’t know. And it’s low hanging fruit. For between $49 and $99, at Family Tree DNA you can take a multitude of tests, but primarily Y DNA, mitochondrial DNA and autosomal. And with that, you can find out what it is that you don’t know. The story of “Finding Anne Marie” is the perfect example. In fact, it has been turned into a book.
We test to discover if we are related paternally (Y-DNA) to others of the same or similar surnames. This also means that we can eliminate researching any lines that you don’t match. So we do it so we can stop barking up the wrong tree, and hopefully, bark up the right one. This article about Triangulation for Y DNA talks about surname matching. This paternal Y test was one of the first and is still probably the primary DNA genealogy test done today.
We can test relationship theories. For example, let’s say that we don’t know who the father of our ancestor is, but there are 4 male candidates, all brothers, in the county at the time our ancestor was born. Certainly, being rabid genealogists, we’ve already done the genealogy work, like check tax records, census schedules, church records and anything local, but now we need big guns because those resources didn’t reveal parentage. This story about the Perez family in Guam and in Hawaii illustrates this beautifully and uses both Y DNA in combination with autosomal. In the case of the 4 brothers above, we can search for their wives surnames in our matches and see if we can identify which couple by using the wive’s lines’ DNA.
We test to find out about our ancient ancestry. What “clan” or haplogroup did we come from? There are a number of tests we can take to discover if we are Native American, for example, or African. Some tests, like the autosomal tests, look back only a few generations, so they are broad, not deep, and some, like the Y and mitochondrial tests are very deep, going back hundreds of generations, but not broad at all, focusing like a laser beam on only that one specific direct line. This article about “Proving Native American Ancestry Using DNA” tells about the various kinds of tests and how they can help with genealogy.
We test to create a DNA pedigree chart that parallels and integrates with our genealogy pedigree chart. Every ancestor and their DNA has an ancient story to tell that would be silenced without DNA. In essence, we recover ancestry otherwise lost to us. How else would you ever find out that you descend from Vikings or Niall of the 9 Hostages?
We test to better understand our genesis. For example, we want to map our chromosomes to know which one came from which ancestor. Ok, maybe number 6 only applies to geeky genealogists – but there appear to be a lot of us out there. Kitty Cooper’s new mapping tool is quite popular.
We test to find our family. Just today, I “met” a cousin I match autosomally and we discovered that we have some of the same “coureur du bois” stories in our Acadian families. The difference is that she knew what they were, and I didn’t. Click – that’s the sound of a puzzle piece falling into place.
Some people test to prove paternity, or find biological parents or siblings. Over the past couple of years, several great adoption tools and groups have been formed as we’ve learned to work more effectively with autosomal DNA.
We test because it’s fun. It adds another dimension and several more tools to the addiction we love, genealogy.
Some test to discover more about their health traits. For some, this health information is just a side benefit, but you never know when that health information will have a profound influence on your life.
Some people want to participate in scientific research. This is probably not a primary reason to test, but it does motivate a lot of people and this is one field where an individual can still actively participate and make a difference, sometimes a huge difference.
Some people, like Lenny Trujillo, want to leave a legacy and what a legacy he has left. This is one of the most common reasons people order the Personalized DNA Reports. In some cases, their DNA line ends with them, but in others, it’s a way of leaving information for future generations. Many people have these reports bound and give them as family-wide gifts.
We test because we want to find the location in Europe, or wherever “the old country” is for our family, that our immigrant ancestors came from. The Speaks family is a great example. The American group had tested and confirmed the DNA of the original immigrant, but we didn’t know where the Speaks family came from, although we believed they immigrated from England. Another Speaks family member, from Australia, tested, and matched the American group. The difference was that our Australian cousin knew exactly where his English ancestor was from. Through DNA testing, we found the home of our Speaks family in Gisburn, Lancashire, England. You can read about it in “The Speak Family – 3 Continents and a Dash of Luck.”
We want to prove or disprove our oral history. In many cases, that history includes some type of minority admixture. By minority, I mean not our primary ethnicity. In the series, “The Autosomal Me,” I described in agonizing detail how to use tiny bits of DNA to do just that, and to identify which family lines contributed that minority admixture. In my case, both Native and African. Native had always been a part of our family’s oral history, but the African was initially a surprise.
We test because we’re curious about where we came from, who we are related to, what they know about our ancestors that we might not. As I’ve said before, “It’s About the Journey.” Inquiring minds want to know…..

And it all starts with a DNA test!

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Ancient DNA Analysis From Canada

Posted on July 4, 2013 by Roberta Estes

Recently a new academic paper focused on Native American ancestry hit the news. Ripan Malhi’s molecular anthropology and ancient DNA lab at the University of Illinois, shown above, in Urbana, Illinois has successfully extracted DNA from remains of individuals whose bones were found in an ancient trash heap in British Columbia and has successfully matched the DNA with living people today, confirming of course that today’s people were related to these ancient people and are a part of the same base population that lived there 5000-6000 years ago and remains today.

Ripan’s paper, “Ancient DNA Analysis of Mid-Holocene Individuals from the Northwest Coast of North America Reveals Different Evolutionary Paths for Mitogenomes” discusses this in detail. If you’re not up to this level of detail, a nice article in LiveScience covers the discovery as well.

Ripan has successfully connected the dots between the fossilized remains and currently living members of several Native tribes local to the region where the bones were found.

As part of this study, three new mitochondrial haplogroups were discovered in the Native population. Two haplogroups, A2ag and A2ah are found alive and well today. However, another, D4h3a7 has only been found one other time, in remains found in a cave in Alaska, and may have gone extinct. It has not been found in living people to date, although a lot of people have yet to be tested.

The area where the remains were found is indigenous to the Tsimshian, Haida and Nisga’a tribes.

Today, local tribes are participating in additional research with Dr. Malhi in order to better understand their ancestry and to see if the genetic data supports their extensive oral history which suggests multiple migration waves from Asia into the Americas within the past 5000 years.

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Mitochondrial DNA Smartmatching – The Rest of the Story

Posted on June 28, 2013 by Roberta Estes

Sometimes, a match is not a match. I know, now I’ve gone and ruined your day…

One of the questions that everyone wants the answer to when looking at matches, regardless of what kind of DNA testing we’re talking about, is “how long ago?” How long ago did I share a common ancestor with my match? Seems like a pretty simple question doesn’t it?

The answer, especially with mitochondrial DNA is not terribly straightforward. A perfect example of this fell into my lap this week, and I’m sharing it with you.

Mitochondrial DNA – A Short Primer

There are three regions that are tested in mitochondrial DNA testing for genealogy. The HVR1 and HVR2 regions are tested at most testing companies, and at Family Tree DNA, the rest of the mitochondria, called the coding region, is tested as well with the full mitochondrial sequence test. This is the mitochondrial equivalent of Paul Harvey’s “the rest of the story,” and of course we all know that the real story is always in “the rest of the story” or he wouldn’t be telling us about it!

Many times, the rest of the story is critically important. In mitochondrial DNA, it’s the only way to obtain your full haplogroup designation. If you don’t want to just be haplogroup J or A or H, you can test the coding region by taking the full sequence test and find out that you’re J1c2 or A2 or H21, and discover the story that goes with that haplogroup. Guaranteed, it’s a lot more specific than the one that goes with simple J, A or H. Often it’s the difference between where your ancestor was 2000 years ago and 20,000 years ago – and they probably covered a lot of territory in 18,000 years!

Let’s take a quick look at mitochondrial DNA.

To begin with, the HVR1 and HVR2 regions are called HVR for a reason – it’s short for hypervariable. And of course, that means they vary, or mutate, a lot more rapidly, as compared to the coding region of the mitochondrial DNA.

In layman’s terms, think of a clock. No, not a digital clock, an old-fashioned alarm clock.

The entire mitochondrial DNA has 16,569 locations. The HVR1 and HVR2 regions take up the space on the clock face from 5 till until 5 after the hour. The rest is the coding region – the mitochondrial “rest of the story.” The coding region mutates much slower than the two HVR regions.

Just to be sure we’re on the same page, let’s talk for just a minute about how mitochondrial haplogroup assignments work. For a detailed discussion of haplogroup assignments and how they are done, see Bill Hurst’s discussion here.

Generally a base haplogroup can be reasonably assigned by HVR1 region testing, but not always. Sometimes they change with full sequence testing – so what you think you know may not be the end result.

My full haplogroup is J1c2f. My base haplogroup is J. I’m on the first branch of J, J1. On branch J1, I’m on the third stick, c, J1c. On the third stick J1c, I’m on the second twig, J1c2. On the second twig, J1c2, I’m leaf f, or J1c2f. Each of these branches of haplogroup J is determined by a specific mutation that happened long ago and was then passed to all of that person’s offspring, between them and me today. The question is always, how long ago?

Mutation Rates – How Long Ago is Long Ago?

While we have a tip calculator at Family Tree DNA for Y-line DNA to predict how long ago 2 Y-line matches shared a most recent common ancestor, we don’t have anything similar for mitochondrial DNA, partly because of the great variation in the mutation rates for the various regions of mitochondrial DNA. Family Tree DNA does provide guidelines for the HVR1 region, but they are so broad as to be relatively useless genealogically. For example, at the 50^th percentile, you are likely to have a common ancestor with someone whom you match exactly on the HVR1 mutations in 52 generations, or about 1300 years ago, in the year 713. Wait, I know just who that is in my family tree!

These estimates do not take into account the HVR2 or coding regions.

I did some research jointly with another researcher not long ago attempting to determine the mutation rate for those regions, and we found estimates that ranged from 500 years to several thousand years per mutation occurrence and it wasn’t always clear in the publications whether they were referring to the entire mitochondria or just certain portions. And then there are those pesky hot-spots that for some reason mutate a whole lot faster than other locations. We’re not even going there. Suffice it to say there is a wide divergence in opinion among academics, so we probably won’t be seeing any type of mito-tip calculator anytime soon.

Enter SmartMatching

Family Tree DNA does their best to make our matches useful to us and to eliminate matches that we know aren’t genealogically relevant.

For example, this week, I was working on a client’s DNA Report. Let’s call him Joe. Joe is haplogroup J1c2. I am haplogroup J1c2f. J1c2f has one additional haplogroup defining mutation, in the coding region, that J1c2 does not have.

Joe and I did not show as matches at Family Tree DNA, even though our HVR1 and HVR2 regions are exact matches. Now, for a minute, that gave me a bit of a start. In fact, I didn’t even realize that we were exact matches until I was working with his results at MitoSearch and recognized my own User ID.

I had to think for a minute about why we would not be considered matches at Family Tree DNA, and I was just about ready to submit a bug report, when I realized the answer was my extended haplogroup. This, by the way, is the picture-perfect example of why you need full sequence testing.

Family Tree DNA knows that we both tested at the full sequence level. They know that with a different haplogroup, we don’t share a common ancestor in hundreds to thousands of years, so it doesn’t matter if we match exactly on the HVR1 and HVR2 levels, we DON’T match on a haplogroup defining mutation, which, in this case, happens to be in the coding region, found only with full sequence testing. Even if we have only one mismatch at the full sequence level, if it’s a haplogroup defining marker, we are not considered matches. Said a different way, if our only difference was location 9055 and 9055 was NOT a haplogroup defining mutation, we would have been considered a match on all three levels – exact matches at the HVR1 and HVR2 levels and a 1 mutation difference at the full sequence level. So how a mutation is identified, whether it’s haplogroup defining or not, is critical.

In our case, I carry a mutation at marker 9055 in the coding region that defines haplogroup J1c2f. Joe doesn’t have this mutation, so he is not J1c2f, just J1c2. So we don’t match.

So – How Long Ago for Me and Joe?

Dr. Behar in his “Copernican Reassessment of the Mitochondrial DNA Tree,” which has become the virtual Bible of mitochondrial DNA, estimates that the J1c2f haplogroup defining mutation at location 9055 occurred about 2000 years ago, plus or minus another 3000 years, which means my ancestor who had that mutation could have lived as long ago as 5000 years.

The mutations that define haplogroup J1c2 occurred about 9800 years ago, plus or minus another 2000. So we know that Joe and I share a common ancestor about 7,800 – 11,800 years ago and our lines diverged sometime between then and 2,000 – 5,000 years ago. So, in round numbers our common ancestor lived between 2,000 and 9,800 years ago. Not much chance of identifying that person!

The ability to eliminate “near-misses” where the HVR1+HVR2 matches but the people aren’t in the same haplogroup, which is extremely common in haplogroup H, is actually a very useful feature that Family Tree DNA nicknamed SmartMatching. With over 1000 matches at the HVR1 level, more than 200 at the HVR1+HVR2 level and another 50+ at the full sequence level, Joe certainly didn’t need to have any “misleading” matches included that could have been eliminating by a logic process.

So while Joe and I match, technically, if you only look at the HVR1 and HVR2 levels, we don’t really match, and that’s not evident at MitoSearch or at Ancestry or anyplace else that does not take into consideration both full sequence AND haplogroup defining mutations. Family Tree DNA is the only company that does this.

It’s interesting to think about the fact that 2 people can match exactly at the HVR1+HVR2 levels, but the distance of the relationship can be vastly different. I also match my mother on the HVR1+HVR2 levels, exactly, and our common ancestor is her. So the distance to a common ancestor with an exact HVR1+HVR2 match can be anyplace from one generation (Mom) to thousands of years (Joe), and there is no way to tell the difference without full sequence testing and in this case, SmartMatching.

And that, my friends, is the rest of the story!

Big News! Probable Native American Haplogroup Breakthrough

Posted on June 27, 2013 by Roberta Estes

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 www.dnaexplain.com and write the free blogs, www.dna-explained.com and www.nativeheritageproject.com. You can verify anything in this article directly with Bennett Greenspan, the President of Family Tree DNA at bcg@familytreedna.com. 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. http://dna-explained.com/2012/09/11/lenny-trujillo-the-journey-of-you/

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.

http://www.familytreedna.com/group-general-fund-contribution.aspx?g=mtDNA-A4a

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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New Y DNA Haplogroup Naming Convention

Posted on March 31, 2013 by Roberta Estes

In late 2012, the way haplogroups were being named and referenced began changing. Before the introduction of the Geno 2.0 test in July 2012, there were approximately 850 SNPs identified on the haplotree, meaning 850 haplogroup names that all began with the letter of the haplogroup, but then had alternating numbers and letters that were added as new haplogroup branches were discovered.

The most common one in Europe is R1b1a2. This means that after haplogroup R itself was discovered, then another haplogroup, R1 was discovered, then R1b, and so forth. But now, for the fly in the ointment. Let’s say that a new haplogroup has been discovered and it needs to be inserted between haplogroup R1 and haplogroup R1b. What happens? This naming methodology is not conducive to insertions. It’s only been a couple of years that the tree was entirely rewritten, redrawn. Haplogroups that were previously called E3a became E1b1a. To say it was a large and very disconcerting shift is an understatement. Add to this that all of the academic papers on which we depend are written in the lingo of the time. So something that references haplogroup J1a in 2002 may not be talking about the same J1a, as defined by a SNP, in 2013 or some time in the future.

Now for the jolt. The Genographic project utilized over 10,000 new SNPs not before known or utilized for a total of over 12,000 Y DNA SNPs in their Geno 2.0 test introduced in July of 2012 . Therefore, the tree was going to have to be entirely drawn with the haplogroup branches renamed, once again. This was going to be a much bigger shift than before, simply due to the sheer magnitude, and more SNPs are being discovered almost daily. Therefore, a new methodology was needed.

Every haplogroup, such as R1b1a2, is defined by a specific SNP, in this case, M269. This SNP and haplogroup name have a specific location on the haplotree. The SNP locations can change without a problem, but the names of the haplogroups that need to change are the problem. This has already led to different trees maintained by different organizatiosn being out of sync with each other.

Today, at Family Tree DNA, this is what the top part of the haplogroup R tree looks like.

As new SNPs are discovered and inserted into the tree, there will no longer be a name assigned, shown in the right hand column. As the names are obsoleted because of shuffling of branches on the tree, they will not be renamed. Already, at Family Tree DNA, they are using just the SNP name as the haplogroup indicator, as you can see in the top bar where is says “Your confirmed haplogroup R-L21. This means haplogroup R, SNP L21, which occurs further down on the tree.

Today, R-L21 is still shown on the tree with its name, R1b1a2a1a1b4, but as the tree branches shuffle and this name no longer applies to R-L21, the name will be obsoleted and the haplogroup will only referenced as R-L21.

Max Blankfeld and Bennett Greenspan of Family Tree DNA recently wrote this explanation which is found on the haplogroup pages at Family Tree DNA.

Long time customers of Family Tree DNA have seen the YCC-tree of Homo Sapiens evolve over the past several years as new SNPs have been discovered. Sometimes these new SNPs cause a substantial change in the “longhand” explanation of your terminal Haplogroup. Because of this confusion, we introduced a shorthand version a few years ago that lists the branch of the tree and your terminal SNP, i.e. J-L147, in lieu of J1c3d. Therefore, in the very near term, Family Tree DNA will discontinue showing the current “longhand” on the tree and we will focus all of our discussions around your terminal defining SNP.

This changes no science – it just provides an easier and less confusing way for us all to communicate.

Obviously, more than a decade’s worth of information exists that references the haplogroups in both formats. Other companies in this space are not doing this level of testing and do not yet need to address this type of issue, so their data bases and references will likely stay the same, at least for the time being. For some time to come, we will be dealing in a dual world where both methodologies are utilized and yes, some amount of confusion will certainly result. In preparation, I wanted you to understand what has happened in the past, the recent changes, what the future holds, and why.

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Disclosure

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