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The Western and Eastern Roots of the Saami—the Story of Genetic “Outliers” Told by Mitochondrial DNA and Y Chromosomes

Tambets, Kristiina, Rootsi, Siiri, Kivisild, Toomas, Help, Hela, Serk, Piia, Loogväli, Eva-Liis, Tolk, Helle-Viivi, Reidla, Maere, Metspalu, Ene, Pliss, Liana, Balanovsky, Oleg, Pshenichnov, Andrey, Balanovska, Elena, Gubina, Marina, Zhadanov, Sergey, Osipova, Ludmila, Damba, Larisa, Voevoda, Mikhail, Kutuev, Ildus, Bermisheva, Marina, Khusnutdinova, Elza, Gusar, Vladislava, Grechanina, Elena, Parik, Jüri, Pennarun, Erwan, Richard, Christelle, Chaventre, Andre, Moisan, Jean-Paul, Barać, Lovorka, Peričić, Marijana, Rudan, Pavao, Terzić, Rifat, Mikerezi, Ilia, Krumina, Astrida, Baumanis, Viesturs, Koziel, Slawomir, Rickards, Olga, De Stefano, Gian Franco, Anagnou, Nicholas, Pappa, Kalliopi I., Michalodimitrakis, Emmanuel, Ferák, Vladimir, Füredi, Sandor, Komel, Radovan, Beckman, Lars, Villems, Richard·2004·The American Journal of Human Genetics
DOI 10.1086/383203
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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, distincti…

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Metadata

Authors
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., Bermisheva, M., Khusnutdinova, E., Gusar, V., Grechanina, E., Parik, J., Pennarun, E., Richard, C., Chaventre, A., Moisan, J.-P., Barać, L., Peričić, M., Rudan, P., Terzić, R., Mikerezi, I., Krumina, A., Baumanis, V., Koziel, S., Rickards, O., De Stefano, G. F., Anagnou, N., Pappa, K. I., Michalodimitrakis, E., Ferák, V., Füredi, S., Komel, R., Beckman, L., & Villems, R.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2004-04
Volume
74
Issue
4
Pages
661-682
ISSN
0002-9297
DOI
10.1086/383203
Cited by
176
References
2
Language
en
Licence
Funders
  • Siberian Branch, Russian Academy of Sciences
  • Ministry of Science and Technology, Croatia
  • Russian Foundation for Basic Research (02-06-80524-a, 0196005, 01-04-48487a)

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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. The American Journal of Human Genetics. https://doi.org/10.1086/383203