MtDNA Diversity in Chukchi and Siberian Eskimos: Implications for the Genetic History of Ancient Beringia and the Peopling of the New World Yelena B.

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mtDNA Diversity in Chukchi and Siberian Eskimos: Implications for the Genetic History of Ancient Beringia and the Peopling of the New World Yelena B. Starikovskaya, Rem I. Sukernik, Theodore G. Schurr, Andreas M. Kogelnik, Douglas C. Wallace The American Journal of Human Genetics Volume 63, Issue 5, Pages 1473-1491 (November 1998) DOI: 10.1086/302087 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 1 Map of eastern Chukotka, encompassing territories and villages where Chukchi and/or Siberian Eskimos analyzed in this study were born or derived. The inset map shows an expanded view of the Bering Strait area. The American Journal of Human Genetics 1998 63, 1473-1491DOI: (10.1086/302087) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 2 Northern Pacific Rim/Bering Sea region, with approximate locations of populations for which mtDNA haplogroup distribution is indicated in table 3. The American Journal of Human Genetics 1998 63, 1473-1491DOI: (10.1086/302087) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 3 MP tree, showing phylogenetic relationships of Chukchi, Siberian Eskimo, selected Siberian, and northern Native American RFLP haplotypes. The tree is 144 mutational steps in length; has consistency and retention indices of .785 and .889, respectively; and represents 1 of 3,000 MP trees that were generated by the TBR branch-swapping algorithm. It was rooted by use of three African haplotypes, AF71 (Chen et al. 1995), TYPE-5, and HYPANC (hypothetical ancestor) (Cann et al. 1987). The haplogroups observed in native Siberian populations are indicated by the large uppercase letters in boxes, and the haplotypes appearing in each population are identified by circles or squares as defined in the “Symbol Key,” with haplotype designations corresponding to those given by Torroni et al. (1993a,1993b). "SHARED" haplotypes are those observed in more than one population. The horizontal branch lengths are proportional to the number of mutational events that separate the haplotypes. The numbers located under the major branches of the MP tree indicate the percentage of support for each branch in the 50%-majority-rule consensus tree. The American Journal of Human Genetics 1998 63, 1473-1491DOI: (10.1086/302087) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 4 NJ unrooted tree of CR sequences from Chukchi, Siberian and Alaskan Eskimo, Na-Dene, and Northwest Coast Amerindians. The five groupings are clusters of related CR lineages affiliated with haplogroups and the populations in which they are found. The abbreviation “CHU” (Chukotkan) differentiates the novel Chukotkan CR lineages defined in the present study versus those described elsewhere either by the abbreviation “CIR” (circumpolar) or by tribal name with the number situated either before (Torroni et al 1993a) or after (Ward et al. 1991, 1993; Shields et al. 1993) the name of the tribe. The “CIR” lineages are as defined in the footnote to table 6. The American Journal of Human Genetics 1998 63, 1473-1491DOI: (10.1086/302087) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

Figure 5 NJ unrooted tree of haplogroup A CR sequences from Chukchi, Eskimos, Na-Dene, and Northwest Coast Amerindians. All samples are as defined in the legend to figure 4. The two groupings are major subgroups of related CR sequences within this haplogroup, with the defining nucleotide polymorphisms indicated therein. Note that the boxes for the 16111T and 16192T polymorphisms overlap, in that all sequences with the 16192T polymorphism also have the 16111T polymorphism (but not vice versa). However, three CR sequences (CIR62, CIR64, and CIR74) exhibit a C rather than a T at np 16111 (Shields et al. 1993). This nucleotide difference appears to have resulted from a secondary T→C transition in 16111T mtDNAs, since all three of these CR sequences also possess the 16223T, 16290T, 16319A, and 16362C polymorphisms that are characteristic of haplogroup A mtDNAs; CIR74 also has the 16192T mutation. The American Journal of Human Genetics 1998 63, 1473-1491DOI: (10.1086/302087) Copyright © 1998 The American Society of Human Genetics Terms and Conditions