1. The Western and Eastern Roots of the Saami—the Story of Genetic 'Outliers' Told by Mitochondrial DNA and Y Chromosomes
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Christelle Richard, Piia Serk, Ludmila P. Osipova, Slawomir Koziel, Nicholas P. Anagnou, Rifat Terzić, Andrey Pshenichnov, I. A. Kutuev, Kristiina Tambets, Marina Bermisheva, Emmanuel Michalodimitrakis, Liana Pliss, Vladislava Gusar, Elza Khusnutdinova, Lars Beckman, Vladimír Ferák, Olga Rickards, Gian Franco De Stefano, Maere Reidla, Erwan Pennarun, Marijana Peričić, Mikhail Voevoda, Viesturs Baumanis, Pavao Rudan, Larisa Damba, Helle Viivi Tolk, Jean Paul Moisan, Oleg Balanovsky, Ilia Mikerezi, Richard Villems, Hela Help, Elena Balanovska, Jüri Parik, Kalliopi I. Pappa, Andre Chaventre, Elena Grechanina, Radovan Komel, Eva Liis Loogväli, Sergey I. Zhadanov, Sandor Füredi, Toomas Kivisild, Astrida Krumina, Lovorka Barać, Ene Metspalu, Siiri Rootsi, and Marina Gubina
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haplotype ,Time Factors ,extrachromosomal inheritance ,Variation (Genetics) ,mitochondrial DNA ,mtDNA ,Y chromosome ,Saami ,phylogenetic analysis ,phylogeography ,Haplogroup ,Gene Frequency ,Russian Federation ,Ethnicity ,Genetics(clinical) ,Genetics (clinical) ,Phylogeny ,Genetics ,Phylogenetic tree ,Geography ,article ,Articles ,Gene Pool ,Mitochondrial ,Europe ,priority journal ,Gene pool ,Scandinavia ,Aborigine ,human ,major clinical study ,phylogeny ,population genetics ,Chromosomes, Human, Y ,DNA, Mitochondrial ,Ethnic Groups ,Haplotypes ,Humans ,Siberia ,Mitochondrial DNA ,Biology ,Settore BIO/08 ,Chromosomes ,Genetic variation ,Haplotype ,Genetic Variation ,DNA ,Phylogeography ,Settore BIO/18 - Genetica ,Evolutionary biology ,Human mitochondrial DNA haplogroup - Abstract
The 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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