Copyright © 1998 The American Society of Human Genetics. All rights reserved.
The American Journal of Human Genetics, Volume 63, Issue 5, 1473-1491, 1 November 1998
doi:10.1086/302087
mtDNA Diversity in Chukchi and Siberian Eskimos: Implications for the Genetic History of Ancient Beringia and the Peopling of the New World
Yelena B. Starikovskaya1, Rem I. Sukernik1, Theodore G. Schurr2, 3, Andreas M. Kogelnik2, 3 and Douglas C. Wallace2, 3, 
, 
1 Laboratory of Human Molecular Genetics, Institute of Cytology and Genetics, Siberian Division, Russian Academy of Sciences, Novosibirsk, and Chukotkan Research Center, Far Eastern Division, Russian Academy of Sciences, Anadyr, Chukotkan Autonomous Region
2 Department of Anthropology, Emory University, Atlanta
3 Center of Molecular Medicine, Emory University, Atlanta
Address for correspondence and reprints: Dr. Douglas C. Wallace, Director, Center for Molecular Medicine, Emory University School of Medicine, 1462 Clifton Road N.E., Atlanta, GA 30322.Abstract
The mtDNAs of 145 individuals representing the aboriginal populations of Chukotka—the Chukchi and Siberian Eskimos—were subjected to RFLP analysis and control-region sequencing. This analysis showed that the core of the genetic makeup of the Chukchi and Siberian Eskimos consisted of three (A, C, and D) of the four primary mtDNA haplotype groups (haplogroups) (A–D) observed in Native Americans, with haplogroup A being the most prevalent in both Chukotkan populations. Two unique haplotypes belonging to haplogroup G (formerly called “other” mtDNAs) were also observed in a few Chukchi, and these have apparently been acquired through gene flow from adjacent Kamchatka, where haplogroup G is prevalent in the Koryak and Itel'men. In addition, a 16111C→T transition appears to delineate an “American” enclave of haplogroup A mtDNAs in northeastern Siberia, whereas the 16192C→T transition demarcates a “northern Pacific Rim” cluster within this haplogroup. Furthermore, the sequence-divergence estimates for haplogroups A, C, and D of Siberian and Native American populations indicate that the earliest inhabitants of Beringia possessed a limited number of founding mtDNA haplotypes and that the first humans expanded into the New World ∼34,000 years before present (YBP). Subsequent migration 16,000–13,000 YBP apparently brought a restricted number of haplogroup B haplotypes to the Americas. For millennia, Beringia may have been the repository of the respective founding sequences that selectively penetrated into northern North America from western Alaska.
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