The Genetic Genealogist

If you’re interested in DNA, Native American History, or genetic genealogy, then you’re undoubtedly heard of a new paper from PLoS ONE called “The Phylogeny of the Four Pan-American mtDNA Haplogroups: Implications for Evolutionary and Disease Studies.” The authors, from all around the world (including Ugo A. Perego from SMGF and Antonio Torroni from Italy) analyze over 100 complete Native America mtDNA genomes. From the abstract:

“In this study, a comprehensive overview of all available complete mitochondrial DNA (mtDNA) genomes of the four pan-American haplogroups A2, B2, C1, and D1 is provided by revising the information scattered throughout GenBank and the literature, and adding 14 novel mtDNA sequences. The phylogenies of haplogroups A2, B2, C1, and D1 reveal a large number of sub-haplogroups but suggest that the ancestral Beringian population(s) contributed only six (successful) founder haplotypes to these haplogroups.”

All Native American mtDNA can be traced back to five Haplogroups called A, B, C, D, and X. More specifically, Native American mtDNA belongs to sub-haplogroups that are unique to the Americas and not found in Asia or Europe: A2, B2, C1, D1, and X2a (with minor groups C4c, D2, D3, and D4h3). Based on the study, the A2, B2, C1, and D1 groups are estimated to have developed between 18,000 and 21,000 years ago. Since the Native American mtDNA sub-haplogroups are not found in Asia, they are believed to have developed while founding groups were crossing into the Americas from Asia via Beringia.

The study suggests that 95% of Native American mtDNAs are descended from the six founding mothers of the A2, B2, C1b, Cc, C1d, and D1 sub-haplogroups. The other 5% is composed of the X2a, D2, D3, C4, and D4h3 sub-haplogroups.

It should be noted that these results are not considered the last word on the subject, as more sequences and further research is needed. From the paper:

“Our snapshot of the phylogenies for haplogroups A2, B2, C1, and D1 is only partially representative of Native American mtDNA variation, since most likely it only marginally includes the variation of Native American populations from Central and South America.”

For more information:

• Genes link 95 percent of American Indians
• Study: Native Americans Can Trace DNA to 6 Women
• Indian “Founding Mothers” Unveiled
• Native Americans Traced to 6 ‘Founding Mothers’
• Indian DNA Links to 6 ‘Founding Mothers’
• Sorenson Molecular Genealogy Foundation and University of Pavia Publish Most Comprehensive Answers to Date on Genetic Origins of Native Americans