Copyright © 2002 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 70, Issue 1, 192-206, 1 January 2002
doi:10.1086/338457
The Dual Origin and Siberian Affinities of Native American Y Chromosomes
Jeffrey T. Lell1, Rem I. Sukernik2, Yelena B. Starikovskaya2, Bing Su3, Li Jin3, Theodore G. Schurr4, Peter A. Underhill5 and Douglas C. Wallace1, 
, 
1 Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA
2 Institute of Cytology and Genetics, Russian Academy of Sciences, Novosibirsk, Russia
3 Center for Genome Information, University of Cincinnati, Cincinnati, OH
4 Department of Anthropology, University of Pennsylvania, Philadelphia, PA
5 Department of Genetics, Stanford University, Palo Alto, CA
Address for correspondence and reprints: Dr. Douglas C. Wallace, Emory University, Center for Molecular Medicine, 1462 Clifton Road, Room 420, Atlanta, GA 30322Abstract
The Y chromosomes of 549 individuals from Siberia and the Americas were analyzed for 12 biallelic markers, which defined 15 haplogroups. The addition of four microsatellite markers increased the number of haplotypes to 111. The major Native American founding lineage, haplogroup M3, accounted for 66% of male Y chromosomes and was defined by the biallelic markers M89, M9, M45, and M3. The founder haplotype also harbored the microsatellite alleles DYS19 (10 repeats), DYS388 (11 repeats), DYS390 (11 repeats), and DYS391 (10 repeats). In Siberia, the M3 haplogroup was confined to the Chukotka peninsula, adjacent to Alaska. The second major group of Native American Y chromosomes, haplogroup M45, accounted for about one-quarter of male lineages. M45 was subdivided by the biallelic marker M173 and by the four microsatellite loci alleles into two major subdivisions: M45a, which is found throughout the Americas, and M45b, which incorporates the M173 variant and is concentrated in North and Central America. In Siberia, M45a haplotypes, including the direct ancestor of haplogroup M3, are concentrated in Middle Siberia, whereas M45b haplotypes are found in the Lower Amur River and Sea of Okhotsk regions of eastern Siberia. Among the remaining 5% of Native American Y chromosomes is haplogroup RPS4Y-T, found in North America. In Siberia, this haplogroup, along with haplogroup M45b, is concentrated in the Lower Amur River/Sea of Okhotsk region. These data suggest that Native American male lineages were derived from two major Siberian migrations. The first migration originated in southern Middle Siberia with the founding haplotype M45a (10-11-11-10). In Beringia, this gave rise to the predominant Native American lineage, M3 (10-11-11-10), which crossed into the New World. A later migration came from the Lower Amur/Sea of Okhkotsk region, bringing haplogroup RPS4Y-T and subhaplogroup M45b, with its associated M173 variant. This migration event contributed to the modern genetic pool of the Na-Dene and Amerinds of North and Central America.
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