The Western and Eastern Roots of the Saami—the Story of Genetic “Outliers” Told by Mitochondrial DNA and Y Chromosomes // Am. J. Hum. Genet. 74:661–682, 2004
Tambets et al
AbstractThe Saami are regarded as extreme genetic outliers among European populations. In this study, a high-resolution
phylogenetic analysis of Saami genetic heritage was undertaken in a comprehensive context, through use of maternally
inherited mitochondrial DNA (mtDNA) and paternally inherited Y-chromosomal variation. DNA variants
present in the Saami were compared with those found in Europe and Siberia, through use of both new and previously
published data from 445 Saami and 17,096 western Eurasian and Siberian mtDNA samples, as well as 127 Saami
and 2,840 western Eurasian and Siberian Y-chromosome samples. It was shown that the “Saami motif” variant of
mtDNA haplogroup U5b is present in a large area outside Scandinavia. A detailed phylogeographic analysis of
one of the predominant Saami mtDNA haplogroups, U5b1b, which also includes the lineages of the “Saami motif,”
was undertaken in 31 populations. The results indicate that the origin of U5b1b, as for the other predominant
Saami haplogroup, V, is most likely in western, rather than eastern, Europe. Furthermore, an additional haplogroup
(H1) spread among the Saami was virtually absent in 781 Samoyed and Ob-Ugric Siberians but was present in
western and central European populations. The Y-chromosomal variety in the Saami is also consistent with their
European ancestry. It suggests that the large genetic separation of the Saami from other Europeans is best explained
by assuming that the Saami are descendants of a narrow, distinctive subset of Europeans. In particular, no evidence
of a significant directional gene flow from extant aboriginal Siberian populations into the haploid gene pools of
the Saami was found.
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