Native American Mitochondrial Haplogroups

Today, what I’m sharing with you are my 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 is the first or earliest reference or references to a Native American mitochondrial (maternal line) haplogroup where it is identified as Native in academic papers.

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.

Normally, you could presume that if haplogroup A2 is Native, for example, that A2a, downstream of A2, would also be Native, but that’s not always true.  For example, A4 is found in Asia.  A2 is a subset of A4, which you wouldn’t expect, and we believe that haplogroup A4a is actually Native.

The lists below are just that, lists.  If you want to see these in tree fashion, you can visit www.mtdnacommunity.org, click on Phylogeny, click on Expand All, then search on A4, for example.

mtdnacommunity a4

Roberta’s Native Mitochondrial DNA Notes

A – A2 is Native – 2008 Achilli

A2a and A2b – Paleo Eskimo, identified in only Siberia, Alaska and Natives from the American SW (Achilli 2013)

A2a – Aleut – 2008 Volodko

Common among Eskimo, Na-Dene and the Chukchis in northeasternmost Siberia, Athabaskan in SW (Achilli 2013), circumpolar Siberia to Greenland, Apache 48%, Navajo 13%

A2a2 – Achilli 2013

A2a3 – Achilli 2013, northern North America

A2a4 – Achilli 2013

A2a5 – Achilli 2013

A2ad – second most common A2 subgroup in Panama in same countries as A2af – Perego 2012

A2af – Perego 2012

A2ag – Cui 2013 – British Columbia

A2ah – Ciu 2013 – British Columbia

A2b1 – Achilli 2013

A4 -  Kumar 2011

A4a – Kumar 2011

A4b – Kumar 2011

A4c – Kumar 2011

B – B2 is Native – 2008 Achilli, 2007 Tamm

B2a –  Achilli 2013, 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

B2a1 – Achilli 2013

B2a2 – Achilli 2013

B2a3 – Achilli 2013

B2a4 – Achilli 2013, widespread in north central Mexico and US SW

B2a5 – Achilli 2013, restricted to the Yuman (5%) and Uto-Aztecan Pima and Papago from Arizona (7%)

B4b – 2007 Tamm

B4bd – 2007 Tamm

C – C1 is Native – 2008 Achilli, 2007 Tamm

C1 – Kumar 2011

C1a – Kumar 2011

C1b – 2008 Achilli, 2007 Tamm

C1c – 2008 Achilli, 2007 Tamm

C1d – 2008 Achilli, 2007 Tamm, Perego 2010

C1d1 – Indman 2000, Perego 2010, Fagundes 2008, Tamm, 2007

C1d1c – Perego 2010

C1d1c1 – Just 2008, Perego 2010, Kumar 2011

C4 – 2007 Tamm

C4a – Native American and Siberian, Kumar 2011

C4b – Kumar 2011

C4c – 2008 Achilli, 2007 Tamm – found in only 2 samples, an Ijka sample from South America and a Shuswap speaker from North America

D1 is Native – 2008 Achilli, 2007 Tamm

D1a1a1 – Aleut – 2008 Volodko

D1f – Kumar 2011

D2 – Aleut – 2002 Derbeneva, 2007 Tamm

D2a – NaDene – 2002 Derbeneva, 2008 Achilli, 2007 Tamm

D2a1 - among Aleut Islanders and northernmost Eskimos

D2a1a – Aleut – 2008 Volodko

D2a1a – Commander Islands – 2008 Volodko (100%)

D2b – 2007 Tamm, Aleut 2002 Derbeneva

D2c – Eskimo – 2002 Derbeneva

D3 – Inuit – 2008 Achilli, 2007 Tamm

D3a2a – Greenland – 2008 Volodko

D3a2a – Canada – 2008 Volodko

D4 – 2007 Tamm

D4e1 – Kumar 2011

D4e1c – Kumar 2011 – found in Mexican Americans (2 sequences only)

D4h3 – 2008 Achilli, 2007 Tamm

D4h3a7 – Ciu 2013 – British Columbia – may be extinct

M – discovered in prehistoric sites, China Lake, British Columbia – 2007 Malhi

X – X is a founding lineage – found in ancient DNA Washington State -  2002 Malhi, 2007 Tamm

X2a is Native – 2008 Achilli, 2007 Tamm, 2000 Schurr

X2b is European – note that 2008 Fagundes removed a sample from their analysis because they believed X2b was indeed European not X2a Native

X2g – identified in single Ojibwa subject – Achilli 2013

X2e – Altai people, may have arrived from Caucus in last 5000 years

MtDNA References

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

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

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

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

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

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/

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

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

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

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

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

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

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

6 thoughts on “Native American Mitochondrial Haplogroups

  1. My paternal aunt ordered her mtDNAPlus and the haplogroup came back as X. What would be the most economical followup to determine her subgroup? Will the FMS test provide it, or should I direct her to Geno 2.0 or 23andMe?

  2. Pingback: Native American DNA Projects | DNAeXplained – Genetic Genealogy

  3. Pingback: Native American DNA Projects | Native Heritage Project

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