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, 67 (3), 718-26

mtDNA Variation Among Greenland Eskimos: The Edge of the Beringian Expansion


mtDNA Variation Among Greenland Eskimos: The Edge of the Beringian Expansion

J Saillard et al. Am J Hum Genet.


The Eskimo-Aleut language phylum is distributed from coastal Siberia across Alaska and Canada to Greenland and is well distinguished from the neighboring Na Dene languages. Genetically, however, the distinction between Na Dene and Eskimo-Aleut speakers is less clear. In order to improve the genetic characterization of Eskimos in general and Greenlanders in particular, we have sequenced hypervariable segment I (HVS-I) of the mitochondrial DNA (mtDNA) control region and typed relevant RFLP sites in the mtDNA of 82 Eskimos from Greenland. A comparison of our data with published sequences demonstrates major mtDNA types shared between Na Dene and Eskimo, indicating a common Beringian history within the Holocene. We further confirm the presence of an Eskimo-specific mtDNA subgroup characterized by nucleotide position 16265G within mtDNA group A2. This subgroup is found in all Eskimo groups analyzed so far and is estimated to have originated <3,000 years ago. A founder analysis of all Eskimo and Chukchi A2 types indicates that the Siberian and Greenland ancestral mtDNA pools separated around the time when the Neo-Eskimo culture emerged. The Greenland mtDNA types are a subset of the Alaskan mtDNA variation: they lack the groups D2 and D3 found in Siberia and Alaska and are exclusively A2 but at the same time lack the A2 root type. The data are in agreement with the view that the present Greenland Eskimos essentially descend from Alaskan Neo-Eskimos. European mtDNA types are absent in our Eskimo sample.


Figure  1
Figure 1
Map of circumpolar regions, including sample locations of Greenland Eskimos. The locations of the Eskimo language groups Yupik and Inupiaq/Inuit are blackened. The origins of the new Greenland Eskimo samples published here are indicated by the following abbreviations, with the Danish names in parentheses: Up, Upernavik; Uu, Uummannaq (Umanak); Il, Ilulissat (Jakobshavn); Nu, Nuuk (Godthåb); Na, Nanortalik; Am, Ammassalik (Angmagssalik); It, Ittoqqortoormiitt (Scoresbysund). The two medieval Norse colonies were situated near Nuuk (Western Settlement) and Nanortalik (Eastern Settlement). Previously published samples referred to in the text and in figure 2 are also indicated (language phylum affiliation in brackets): Ses, Siberian Eskimo (Eskimo-Aleut); Chu, Chukchi (Chukotko-Kamchatkan); Ath, Athapaskan (Na Dene); Dog, Dogrib (Na Dene); Hai, Haida (Na Dene). The map is based on Berthelsen et al. (1992).
Figure  2
Figure 2
The unique most-parsimonious tree for mtDNA group A2 from Greenland and Siberian samples, comprising 82 Greenland Eskimos (Ges [our sample]), 59 Siberian Eskimos (Ses), and 44 Chukchi (Chu) (Starikovskaya et al. 1998). The displayed mtDNA sequences range from np 16030 to np 16370. The inscribed two-letter codes specify sample locations in Greenland, and the three-letter codes next to some nodes indicate sequence matches with other Siberian and American samples (Inq, Inupiaq; Kor, Koryaks; Nav, Navajo—for other abbreviations, see legend to fig. 1). The area of each circle is proportional to the number of individuals. Mutated positions (−16,000) are indicated along the links. The node labeled with ★ designates the root for A2 types. The two nodes labeled ★ and ⧫ are the founders for the Na Dene/Eskimo reexpansions; all five labeled nodes—★, ⧫, ◊, ▾, ▴—are the founders for the Eskimo dispersal to the east. aOne Nu individual is heteroplasmic at np 16266.

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