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. 2004 Apr;74(4):661-82.
doi: 10.1086/383203. Epub 2004 Mar 11.

The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes

Kristiina Tambets  1 , 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 Bermisheva, Elza Khusnutdinova, Vladislava Gusar, Elena Grechanina, Jüri Parik, Erwan Pennarun, Christelle Richard, Andre Chaventre, Jean-Paul Moisan, Lovorka Barác, Marijana Pericić, 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
Affiliations

The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes

Kristiina Tambets et al. Am J Hum Genet. 2004 Apr.

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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Figures

Figure 1
Figure 1
Phylogenetic network of 445 Saami mtDNA HVS-I sequences. Only those coding-region markers that have been analyzed in this study are shown (for finer resolution of haplogroup U subbranches, see fig. 3). Observed mutations are numbered according to the revised Cambridge Reference Sequence (Anderson et al. ; Andrews et al. 1999). The tree is rooted in haplogroup L3. Variable nps are shown on the links; nucleotide change is specified by suffixes only for transversions. Nodes indicate different haplotypes and have sizes that are proportional to their frequencies. HVS-I sequences are from Sajantila et al. (1995), using the corrections given by Bandelt et al. (2001) (n=114); from Dupuy and Olaisen (1996) (n=197); from Delghandi et al. (1998) (n=61); and from the present study (n=73, underlined samples). The analysis of coding region variation has been performed for only the 73 samples analyzed in the present study; haplogroup affiliations for data published elsewhere are inferred from HVS-I sequences. sf = Saami from Finland, sn = Saami from Norway, ss = Saami from Sweden. Note that the presence of three transversions reported in a single haplotype (sf) from haplogroup V (Sajantila et al. 1995) has not been reconfirmed by an independent study.
Figure  2
Figure  2
PC analysis based on mtDNA (A) and Y-chromosomal (B) haplogroup frequencies in some European and Siberian populations. Only the seven haplogroups (squares) having the main impact on the scatter plot have been used (see the “Subjects and Methods” section). Numbers in parenthesis indicate the proportion of the total genetic information retained by a given PC. The Saami population is subdivided according to the present location of the subpopulations. Population data (triangles) are the same as in tables 1 and 3 and are listed here in alphabetical order as follows: at = Altaians, ch = Chuvashes, ev = Evenks, fi = Finns, fr = French, ge = Germans, kh = Khants, km = Khants and Mansis, ko = Komis, ne = Nenets, nn = Nganasans, no = Norwegians, sf = Saami from Finland, sk = Saami from Kola Peninsula, Russia, sn = Saami from Norway, ss = Saami from Sweden, se = Selkups, sw = Swedes, vt = Volga-Uralic Turkic-speakers (Bashkirs and Chuvashes). Inclusion of all populations listed in tables 1 and 3 did not change the overall outcome (data not shown).
Figure 3
Figure 3
A, Phylogenetic network of U5b1b lineages based on HVS-I sequences and its position in the phylogeny of haplogroup U. Sequence information from Herrnstadt et al. (2002) and Finnilä et al. (2001) has been used for the coding region and HVS-II (see also table 4). The nucleotide positions relative to the revised Cambridge Reference Sequence (Anderson et al. ; Andrews et al. 1999), at which two nodes differ, are listed along links. Nucleotide changes are specified by suffixes only for transversions; “+” indicates an insertion. Note that we have redefined subclade U5a of Finnilä et al. (2001) and Herrnstadt et al. (2002) as “U5b2,” on the basis of its position in the phylogenetic tree. U5b1b1 haplotypes are shown as the square labeled as “Saami motif” and are further refined in panel B. B, Phylogenetic network of 330 U5b1b1 lineages based on HVS-I sequences. The star indicates the basal node (transitions in nps 16144, 16189, and 16270). Population sizes and U5b1b1 frequencies are shown in table 1. Ar = Armenians, Ba = Bashkirs, Bo = Bosnians, Ch = Chuvashes, Cr = Croats, Cz = Czechs, Es = Estonians, Fi = Finns, Fr = French, Hu = Hungarians, Ka = Karelians, Kb = Kabardians, Ko = Komis, La = Latvians, Li = Lithuanians, Ma = Maris, Mc = Moroccans, Mo = Mordvin, Ng = Nogays, No = Norwegians, Po = Poles, Sa = Saami, Sl = Slovaks, Ru = Russians, Si = Sicilians, Sw = Swedes, Ta = Tatars, Uk = Ukrainians. For further information, see the legend to figure 1.
Figure 4
Figure 4
Schematic reconstruction of possible entry routes of the predominant Saami maternal (A) and paternal (B) lineages to Fennoscandia. Broken lines indicate that the exact place of origin/route of spread of the haplogroup is unsolved/not indicated.
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