GENEALOGY-DNA-L Archives

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Subject: [DNA] mtDNA haplogroup U5b1b and the origin of the Saami
Date: Tue, 23 Mar 2004 08:59:19 EST

I know some of you are interested in U5b and/or the Saami. This abstract
appeared at PubMed today. The American Journal of Human Genetics places full text
online after six months http://www.journals.uchicago.edu/AJHG/home.html

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Am J Hum Genet. 2004 Apr;74(4):661-82. Epub 2004 Mar 11.

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

Tambets K, Rootsi S, Kivisild T, Help H, Serk P, Loogvali EL, Tolk HV, 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 JP, Barac L, Pericic M, Rudan P, Terzic R, Mikerezi I, Krumina A, Baumanis
V, Koziel S, Rickards O, De Stefano GF, Anagnou N, Pappa KI, Michalodimitrakis
E, Ferak V, Furedi S, Komel R, Beckman L, Villems R.

Department of Evolutionary Biology, Institute of Molecular and Cell Biology,
University of Tartu and Estonian Biocentre, Tartu, Estonia.

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.

PMID: 15024688 [PubMed - in process]

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