The Western and Eastern Roots of the Saami - The Story of Genetic "Outliers" Told by Mitochondrial DNA and Y Chromosomes

Kristiina Tambets, Siiri Rootsi, Toomas Kivisild, Hela Help, Piia Serk, Eva Liis Loogväli, Helle Viivi Tolk, Maere Reidla, Ene Metspalu, Liana Pliss, Oleg Balanovsky, Andrey Pshenichnov, Elena Balanovska, Marina Gubina, Sergey Zhadanov, Ludmila Osipova, Larisa Damba, Mikhail Voevoda, Ildus Kutuev, Marina BermishevaElza Khusnutdinova, Vladislava Gusar, Elena Grechanina, Jüri Parik, Erwan Pennarun, Christelle Richard, Andre Chaventre, Jean Paul Moisan, Lovorka Barać, Marijana Peričić, Pavao Rudan, Rifat Terzić, Ilia Mikerezi, Astrida Krumina, Viesturs Baumanis, Slawomir Koziel, Olga Rickards, Gian Franco De Stefano, Nicholas Anagnou, Kalliopi I. Pappa, Emmanuel Michalodimitrakis, Vladimir Ferák, Sandor Füredi, Radovan Komel, Lars Beckman, Richard Villems

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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.

Original languageEnglish
Pages (from-to)661-682
Number of pages22
JournalAmerican Journal of Human Genetics
Volume74
Issue number4
DOIs
Publication statusPublished - Apr 2004

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Tambets, K., Rootsi, S., Kivisild, T., Help, H., Serk, P., Loogväli, E. L., Tolk, H. V., Reidla, M., Metspalu, E., Pliss, L., Balanovsky, O., Pshenichnov, A., Balanovska, E., Gubina, M., Zhadanov, S., Osipova, L., Damba, L., Voevoda, M., Kutuev, I., ... Villems, R. (2004). The Western and Eastern Roots of the Saami - The Story of Genetic "Outliers" Told by Mitochondrial DNA and Y Chromosomes. American Journal of Human Genetics, 74(4), 661-682. https://doi.org/10.1086/383203