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Native American Mitochondrial DNA Discoveries

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Presented By

Roberta Estes

Roberta@dnaexplain.comhttp://www.dnaexplain.com

DNA Blog – www.dna-explained.comNative American – www.nativeheritageproject.com

In Collaboration With

• Family Tree DNA• National Geographic Society

Genographic Project

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Guilt By Genetic Association

Bennett Greenspan:

“Genetic genealogy is guilt by genetic association.”

Referring to Jewish Y DNA, but applicable to all genetic genealogy.

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Mitochondrial Inheritance

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Mitochondrial DNA Testing

• Raw data results – HVR1, HVR2 and coding region – meaning mutations at FTDNA

• Matching and tools at FTDNA• Haplogroups – identify your historic clan or geography – at

FTDNA and Genographic Project• Genographic Project haplogroup determined by testing

haplogroup defining mutations• Haplogroups reach directly back in time thousands of years on

one specific line• Mitochondrial and Y DNA aren’t divided and don’t “wash out” in

each generation• The only certain way to determine the ancestry of your direct line

ancestors

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Native American Haplogroups

• A• B• C• D• X

“Beringian Standstill and the Spread of Native American Founders” by Tamm et al, 2007

9 subgroups

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Native Challenges

• Few Native people have tested• US Tribes discourage testing• Many people don’t know their genealogical history• Sometimes mixed race ancestry was hidden• Many people believe their “maternal line” is Native, but in reality, their matrilineal

line is not• People often mistake “maternal” for “matrilineal”

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MexicoFor mtDNA variation, some studies have measured Native American, European and African contributions to Mexican and Mexican American populations, revealing 85 to 90% of mtDNA lineages are of Native American origin, with the remainder having European (5-7%) or African ancestry (3-5%). Thus the observed frequency of Native American mtDNA in Mexican/Mexican Americans is higher than was expected on the basis of autosomal estimates of Native American admixture for these populations i.e. ~ 30-46%.

“Large scale mitochondrial sequencing in Mexican Americans suggests a reappraisal of Native American origins,” published in 2011, Kumar et al

That’s nice – but I need resources to find them.

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Genographic Affiliate Program• Genographic Project launched in April, 2005• Almost 740,000 samples in public data base, over half include mtDNA• Affiliate Researcher program begun in 2015 to facilitate non-academic

research• Application process• Approved for Native research

Additional Resources from:• Family Tree DNA Projects• GenBank• mtDNA Community• PhyloTree.org• Dr. Doron Behar

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Proof – A Sticky Wicket• Ancient burials• Academic studies• In academic studies – finding a haplogroup in a given population• Studies don’t always state what defines proof• Often, one instance of a haplogroup in “Mexico” has sufficed

This project:• Single result from compelling location – as with academic studies• Results from the Americas and NOT elsewhere• Results from the Americas and no results elsewhere other than “Spain,

Portugal” found in families from the Americas, in particular, south of the US• Compelling results from multiple locations IF the haplogroup creation date is

old enough to support a haplogroup or subgroup that could exist in Asia/Europe and the Americas

• Accepted previously proven haplogroups but look to confirm or refute• Combinations of above criteria tempered with a knowledge of social customs

– i.e. the Cherokee Princess story

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Resources

All resources are not created equal

 

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X2b4 Proof Argument• Descendants of Radegonde Lambert, an Acadian

woman found in the 1620s married to Jean Blanchard, carry haplogroup X2b4

• Several descendants tested• Radegonde is widely believed to be the daughter

of Jean Lambert and a Native wife• Alternative evidence surfaces• Radegonde’s great-granddaughter’s husband

gives deposition that Radegonde arrived in Acadia with her husband (from France)

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X2b4 Evidence• Initially X2b4 is found only in Radegonde’s descendants• X2b4 project formed…waiting….waiting….waiting• In 2016, enough people had tested that X2b4 was found in the Czech

Republic, Devon and Birmingham in the UK at Family Tree DNA• No X2b4 has been found among the Native population• No X2b4 has been found in areas indicating or suggesting Native, such as

Mexico, Central or South America• The Genographic project shows additional X2b4 results from

Ireland Czech Serbia Germany (6) France (2) Denmark Switzerland Russia Poland Norway Romania England (2) Slovakia Scotland (2)

• Conclusion - X2b4 is not Native

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Is X2b4 both Native and European?

Assuming Behar’s dates are accurate, X2b4 cannot be both European and Native because the migration to the Americas from Beringia occurred prior to the oldest date for X2b4’s birth – about 8,000 years ago.

The Genographic Data Base• Happy Accident or Stroke of Genius• Multiple questions asked multiple ways

• 4% participants answered green questions• 95% answered enough question to determine some useful

matrilineal geographic or ethnic information

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Information Extracted Per Haplogroup

• Age for haplogroup from Dr. Behar’s “Copernican” paper• RSRS haplogroup defining mutations from Genographic project • FTDNA location results from publicly viewable projects• Genographic “oldest” available information• Other – status and notes• Previously proven Native refers to my article where I maintain Native mtDNA

haplogroups - https://dna-explained.com/2013/09/18/native-american-mitochondrial-haplogroups/

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Challenges1. Haplogroup names change with Phylotree versions – similar to R1b1c=R1b1a2=R-

M269 – except mtDNA still used the letter/number naming scheme 2. Haplogroup projects display, or don’t, different information including, or excluding:

location, oldest ancestor, haplogroup maps, or no display at all3. Not all project participants enter (or understand) oldest ancestor information or

location4. In haplogroup projects, not everyone has tested to the full sequence level, so many

people would be in downstream haplogroups if they tested to that level5. Not all project participants enable public viewing or allow admins to see their coding

region mutations – mostly a lack of understanding and not a conscious decision6. Genographic project participants’ DNA are tested with probes which define

haplogroups, but probes do not provide additional mutations that would be useful in defining new haplogroups

7. Phylotree versions not the same between resources

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Myths• Indian Princess in US – especially Cherokee• Ancestor from Spain in Mexico and points

south• Canary Islands ancestor in Caribbean• French ancestor in Canada • Language does not (always) = origins• However, a Native language speaker is

indicative of Native heritage

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Haplogroup A

• Largest of Native haplogroups with 43.97% of Native people testing• Frequency and migration maps courtesy of Family Tree DNA for all haplogroups• Base haplogroup found in both Asia and the Americas• Some subgroups found in the Americas, but not all

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Heat maps for all haplogroups courtesy of Genographic Project

Haplogroup A Heat Map

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Haplogroup A Tree

All haplogroup trees courtesy of the Genographic Project

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Haplogroup A Project(s)• A, A2, A4 and A10 projects exist• Administrator, but only utilized what is publicly visible• Project and map are publicly visible• HVR1 and 2 regions visible, coding region never visible

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Haplogroup A Native Results• Haplogroup summary charts show ONLY Native haplogroups, or ones uncertain• Original extraction data includes all haplogroups, and all geographic results

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50% are new

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Haplogroup A Discussion• Haplogroup A and subgroups have 7483 total results• Of those, 4198 are A with no subgroup• A, with no subgroup, is a rich treasure trove• Of the 4198, 2549, or 61% provided some

demographic information• Of 2549 participants, about 100, or 4%, answered

any of the 3 oldest ancestor questions• However, 2421 participants, or 95% provided enough

information by answering other questions to be relevant

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Haplogroup A Top Categories• A total of 337 categories emerged for A with no

subgroup• Each person counted only once• 20 or more• Note Mexico

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Haplogroup A Views• One view is by identified tribe

• Additional information can be gleaned as well

• By looking at additional geographic information, questions arise Finland – 1 (Geno) Sweden – 2 (Geno) Norway – 4 (Geno) Denmark – 1 (FTDNA)

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Haplogroup A Location ExampleCanada FTDNA Projects GenographicCanada 9Metis - Canada 1Native - Canada 4Native - Cree - Canada 3Native - Eskimo - Canada 1Native - Haida - Canada 1Native - Mohawk - Canada 1Native - Ojibway - Canada 2AlbertaAlberta 1Native - Alberta 1 3Metis - Alberta 1 1Native - Cree - Alberta 4Native - Michif speaker - Alberta 1British ColumbiaBritish Columbia 1 4Metis - British Columbia 1Native - Coastal Salish - British Columbia 1Native - Gitksan - British Colombia 1Native - Haida - Queen Charlotte Islands, British Columbia 1Native - Kaska (Athabascan) - British Columbia 1Native - Kwakuitl - British Columbia 1Native - Nuu-Chah-Nulth - British Columbia 1Native - Salish - British Columbia 2Native - Tsimshian - British Columbia 2LabradorNative - Inuiit - Labrador 1ManitobaManitoba 3 1Native - Manitoba 1Native - Chippewa - Turtle Mtn., Manitoba 1Native - Cree - Manitoba 4Native - Ojibway - Manitoba 1NewfoundlandNative - Micmac - Newfoundland 1Northwest TerritoryNative - Chippewa - Northwest Territory 1Native - Dene-tha - Fort Liard, Northwest Territory 1Native - Gwich'in - Northwest Territory 1

Nova ScotiaNova Scotia 3 1Native - Micmac - Nova Scotia 1Native - Micmac - Pictos Landing Nation, Nova Scotia 1OntarioOntario 2 1Native - Ontario 1 4Native - Algonquian - Ontario 1Native - Chippewa - Muncey Nation, Ontario 1Native - Chippewa - Ontario 1Native - Cree - Ontario 1Native - Ojibway - Grape Island Mission, Ontario 1Native - Ojibway - Ontario 4Native - Ojibway/Salteaux - Ontario 1Ontario or Quebec, Canada 1Native - Metis - Ontario/Quebec 1QuebecQuebec 1 10Native - Quebec 3Native - Cree - Quebec 1Native - Inuit - Quebec 1Native - Mohawk - Quebec 1SaskatchewanNative - Cree - Saskatchewan 7Native - Michif speaker - Saskatchewan 1VancouverNative - Vancouver 1Yukon TerritoryNative - Athabascan - Yukon Territory 1Native - Kaska - Yukon Territory 1Native - Tutchone - Yukon Territory 1SubarcticNative - Chippewa - Subarctic, Canada 1Native - Inuit - Canada above Arctic Circle 1Native - Inuvialiut - Canadian Arctic Coast 1OtherNative - Chippewa - Great Lakes Region, Canada 1Native - Huron Mission, Canada 1Native - Slavey First Nation - Canada 1

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Haplogroup A Summary• Haplogroup A (no subgroup) is found in Europe, Asia and the Americas• If the Genographic participants were to be full sequence tested, the majority would

probably fall into new haplogroups• Can it be Asian, European and Native?• Haplogroup A, itself, was born in Asia between 19 and 29 thousand years ago• So yes, A, with no subgroups, can be both Asian and Native• Haplogroup A has 22 subgroups• Today, only A2 and A4, positively and A1 and A10 probably are Native• The story of haplogroup A, along with the rest of the base haplogroups, is far from

written

My prediction is that there will be far more subgroups named in the future than exist today.

Haplogroup B

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B4 heat map includes B2, primarily Native subgroup

Only pink pins are haplogroup B

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Haplogroup B Tree

• B4 and B5 are main branches

• B2 falls under B4b

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Haplogroup B Native Results

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75% are new

Haplogroup C

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Haplogroup C Native Results

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12% are new

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Haplogroup D

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Haplogroup D Native Results

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49% are new

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Haplogroup X

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Haplogroup X Native Results

X has proven difficult

No new haplogroups

Several uncertain

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Haplogroup M• Found in 1.1% North Asia• 1.13% Central Asia• 29% East Asia• 33% Pacific• 2.39% Middle East• 2.39% S. Central & E. Africa• Absent elsewhere

M heat map includes subgroups, like C and D, which looks a bit deceptive

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Haplogroup M Native Results

• M found in 2 ancient burials in China Lake, BC, about 150 miles north of Washington State

• Burials about 5000 years old• M7, M8, M9 excluded – HVR1 sequenced plus 1 location from coding region• Mahli feels sequencing and haplogroup assignment was accurate from burials• One additional “USA” sequence found in GenBank, plus several Eurasian

submissions for M1a1e• M, M1, M1a1e and M18b are old enough to be found in multiple continental

populations• M18b found in 2 women from same region, both with confirmed Native heritage,

one that is a tribal member• Extraordinary claims require extraordinary evidence. Moreso than already proven

base haplogroups.

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Dark Horse – Haplogroup F1a1• Found in the American Indian project with Mexican oldest matrilineal

ancestor• Matches 3 additional haplogroup F individuals with Mexican heritage• Pacific and East Asian haplogroup (only), not found in the Americas• 10,863 years old +- 2990• No Genographic results outside of Asia• Full haplogroup F extraction not done• Is F1a1 Native?• If not, how did the individuals come to be found in Mexico?• Is there a Polynesian component?

This is not the only dark horse….

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Summary

• 114 new haplogroups found• 44% of the total Native haplogroups are new• Thanks to the information at Family Tree DNA and the Genographic Project

The tip of the iceberg