Abstract
Northwest Siberia is geographically remote territory, which has been settled by indigenous human populations probably since the Upper Paleolithic. To investigate the genetic landscape of Northwest Siberians, we have analyzed mitochondrial and Y chromosome DNA polymorphisms of 169 unrelated individuals from Khanty and Mansi ethnic groups in Northwest Siberia. In addition, HVS-I sequences (N=3522) and Y chromosome SNP data (N=2175), obtained from the literature, were used to elucidate the genetic relationships among the North Eurasian populations. The results show clinal distributions of mtDNA and Y chromosome haplogroups along East–West axis of Northern Eurasia. In this context, the Ugric-speaking Khanty and Mansi appear as unique intermediate populations carrying Upper Paleolithic and more recent haplotypes typical for both West and East Eurasian gene pools. This admixture indicates that the Khanty and Mansi populations have resided in the contact zone of genetically distinguishable eastern and western Eurasia.
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References
Goebel T, Derevianko AP, Petrin VT : Dating the Middle-to-Upper-Paleolithic transition at Kara-Bom. Curr Anthropol 1993; 34: 452–458.
Vasil’ev SA, Kuzmin YV, Orlova LA, Dementiev VN : Radiocarbon-based chronology of the Paleolithic of Siberia and its relevance to the peopling of the New World. Radiocarbon 2002; 44: 503–530.
Dolukhanov PM, Shukurov AM, Tarasov PE, Zaitseva GI : Colonization of Northern Eurasia by modern humans: radiocarbon chronology and environment. J Archaeol Sci 2002; 29: 593–606.
Kuzmin YV, Keates SG : Comment on ‘colonization of Northern Eurasia by modern humans: radiocarbon chronology and environment’ by PM Dolukhanov, AM Shukurov, PE Tarasov and GI Zaitseva. Journal of Archaeological Science 29, 593–606 (2002). J Archaeol Sci 2004; 31: 141–143.
Kolga M, Tõnurist I, Vaba L, Viikberg J : The Red Book of the Peoples of the Russian Empire. Tallinn: NGO Red Book, 2001.
Karafet T, Xu L, Du R et al: Paternal population history of East Asia: sources, patterns, and microevolutionary processes. Am J Hum Genet 2001; 69: 615–628.
Karafet TM, Osipova LP, Gubina MA, Posukh OL, Zegura SL, Hammer MF : High levels of Y chromosome differentiation among native Siberian populations and the genetic signature of a boreal hunter-gatherer way of life. Hum Biol 2002; 74: 761–789.
Wells RS, Yuldasheva N, Ruzibakiev R et al: The Eurasian heartland: a continental perspective on Y chromosome diversity. Proc Natl Acad Sci USA 2001; 98: 10244–10249.
Metspalu M, Kivisild T, Metspalu E et al: Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genet 2004; 5: 26.
Su B, Xiao J, Underhill P et al: Y chromosome evidence for a northward migration of modern humans into Eastern Asia during the last Ice Age. Am J Hum Genet 1999; 65: 1718–1724.
Rootsi S, Zhivotovsky LA, Baldovic M et al: A counter-clockwise northern route of the Y chromosome haplogroup N from Southeast Asia towards Europe. Eur J Hum Genet 2007; 15: 204–211.
Derenko MV, Grzybowski T, Malyarchuk BA et al: Diversity of mitochondrial DNA lineages in South Siberia. Ann Hum Genet 2003; 67: 391–411.
Derenko M, Malyarchuk B, Denisova GA et al: Contrasting patterns of Y chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions. Hum Genet 2006; 118: 591–604.
Derenko M, Malyarchuk B, Grzybowski T et al: Phylogeographic analysis of mitochondrial DNA in northern Asian populations. Am J Hum Genet 2007; 81: 1025–1041.
Starikovskaya EB, Sukernik RI, Derbeneva OA et al: Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups. Ann Hum Genet 2005; 69: 67–89.
Hedman M, Brandstätter A, Pimenoff V et al: Finnish mitochondrial DNA HVS-I and HVS-II population data. Forensic Sci Int 2007; 172: 171–178.
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N : Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999; 23: 147.
Richards M, Macaulay V, Hickey E et al: Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 2000; 67: 1251–1276.
Yao YG, Kong QP, Bandelt HJ, Kivisild T, Zhang YP : Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 2002; 70: 635–651.
Palanichamy MG, Sun C, Agrawal S et al: Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. Am J Hum Genet 2004; 75: 966–978.
Tanaka M, Cabrera VM, Gonzalez AM et al: Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 2004; 14: 1832–1850.
Torroni A, Achilli A, Macaulay V, Richards M, Bandelt HJ : Harvesting the fruit of the human mtDNA tree. Trends Genet 2006; 22: 339–345.
Bosch E, Calafell F, Gonzalez-Neira A et al: Paternal and maternal lineages in the Balkans show a homogeneous landscape over linguistic barriers, except for the isolated Aromuns. Ann Hum Genet 2006; 70: 459–487.
Y Chromosome Consortium: A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 2002; 12: 339–348.
Sajantila A, Lahermo P, Anttinen T et al: Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res 1995; 5: 42–52.
Bandelt HJ, Lahermo P, Richards M, Macaulay V : Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 2001; 115: 64–69.
Passarino G, Cavalleri GL, Lin AA, Cavalli-Sforza LL, Borresen-Dale AL, Underhill PA : Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms. Eur J Hum Genet 2002; 10: 521–529.
Lappalainen T, Koivumäki S, Salmela E et al: Regional differences among the Finns: a Y-chromosomal perspective. Gene 2006; 376: 207–215.
Tambets K, Rootsi S, Kivisild T et al: The western and eastern roots of the Saami – the story of genetic ‘outliers’ told by mitochondrial DNA and Y chromosomes. Am J Hum Genet 2004; 74: 661–682.
Greenberg JH : Indo-European and Its Closest Relatives: The Eurasiatic Language Family. Stanford: Stanford University Press, 2000.
Excoffier L, Laval G, Schneider S : Arlequin ver. 3.0: an integrated software package for population genetics data analysis. Evolutionary Bioinformatics Online 2005; 1: 47–50.
Hurles ME, Nicholson J, Bosch E, Renfrew C, Sykes BC, Jobling MA : Y chromosomal evidence for the origins of oceanic-speaking peoples. Genetics 2002; 160: 289–303.
Excoffier L, Smouse PE, Quattro JM : Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 1992; 131: 479–491.
Dupanloup I, Schneider S, Excoffier L : A simulated annealing approach to define the genetic structure of populations. Mol Ecol 2002; 11: 2571–2581.
Bertorelle G, Barbujani G : Analysis of DNA diversity by spatial autocorrelation. Genetics 1995; 140: 811–819.
Bandelt HJ, Forster P, Rohl A : Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 1999; 16: 37–48.
Bandelt HJ, Quintana-Murci L, Salas A, Macaulay V : The fingerprint of phantom mutations in mitochondrial DNA data. Am J Hum Genet 2002; 71: 1150–1160.
Forster P, Harding R, Torroni A, Bandelt HJ : Origin and evolution of Native American mtDNA variation: a reappraisal. Am J Hum Genet 1996; 59: 935–945.
Saillard J, Forster P, Lynnerup N, Bandelt HJ, Norby S : mtDNA variation among Greenland Eskimos: the edge of the Beringian expansion. Am J Hum Genet 2000; 67: 718–726.
Derbeneva OA, Starikovskaya EB, Wallace DC, Sukernik RI : Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis. Am J Hum Genet 2002; 70: 1009–1014.
Underhill PA, Shen P, Lin AA et al: Y chromosome sequence variation and the history of human populations. Nat Genet 2000; 26: 358–361.
Quintana-Murci L, Chaix R, Wells RS et al: Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet 2004; 74: 827–845.
Shi H, Dong YL, Wen B et al: Y chromosome evidence of southern origin of the East Asian-specific haplogroup O3-M122. Am J Hum Genet 2005; 77: 408–419.
Derbeneva OA, Starikovskaia EB, Volod’ko NV, Wallace DC, Sukernik RI : Mitochondrial DNA variation in Kets and Nganasans and the early peoples of Northern Eurasia. Genetika 2002; 38: 1554–1560.
Goltsova TV, Osipova LP, Zhadanov SI, Villems R : The effect of marriage migration on the genetic structure of the Taimyr Nganasan population: genealogical analysis inferred from MtDNA markers. Genetika 2005; 41: 954–965.
Meinilä M, Finnilä S, Majamaa K : Evidence for mtDNA admixture between the Finns and the Saami. Hum Hered 2001; 52: 160–170.
Orekhov V, Poltoraus A, Zhivotovsky LA, Spitsyn V, Ivanov P, Yankovsky N : Mitochondrial DNA sequence diversity in Russians. FEBS Lett 1999; 445: 197–201.
Kornienko IV, Vodolazhskii DI, Afanas’eva GV, Ivanov PL : Polymorphism of the central region of D-loop of mitochondrial DNA and personality identification by forensic medicine methods. Sud Med Ekspert 2004; 47: 27–32.
Yao YG, Kong QP, Wang CY, Zhu CL, Zhang YP : Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in china. Mol Biol Evol 2004; 21: 2265–2280.
Comas D, Plaza S, Wells RS et al: Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages. Eur J Hum Genet 2004; 12: 495–504.
Comas D, Calafell F, Mateu E et al: Trading genes along the silk road: mtDNA sequences and the origin of central Asian populations. Am J Hum Genet 1998; 63: 1824–1838.
Pakendorf B, Wiebe V, Tarskaia LA et al: Mitochondrial DNA evidence for admixed origins of central Siberian populations. Am J Phys Anthropol 2003; 120: 211–224.
Kasperaviciute D, Kucinskas V, Stoneking M : Y chromosome and mitochondrial DNA variation in Lithuanians. Ann Hum Genet 2004; 68: 438–452.
Pakendorf B, Novgorodov IN, Osakovskij VL, Danilova AP, Protod’jakonov AP, Stoneking M : Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts. Hum Genet 2006; 120: 334–353.
Kidd KK, Pakstis AJ, Speed WC, Kidd JR : Understanding human DNA sequence variation. J Hered 2004; 95: 406–420.
Acknowledgements
We thank all the Khanty and Mansi donors for providing the blood samples. We thank Elena Bosch for the Y chromosome SNP-typing protocol, Kirsti Höök, Mònica Vallés, Stéphanie Plaza and Roger Anglada for technical support; T Karafet, L Rower, B Pakendorf and M Stoneking for the Eurasian Y chromosome reference data; Chiara Batini and Oscar Lao for help in the statistical analysis. Francesc Calafell and two anonymous referees are thanked for helpful comments on the paper. This research was financially supported by The Finnish Cultural Foundation, Federation of European Biochemical Societies and the Finnish Graduate School in Population Genetics (VNP), European contract grant (QLG2-CT-2001-00916), Direcció General de Recerca, Generalitat de Catalunya (2005SGR/00608, DC) and Academy of Finland (109265 and 111713, JUP; 80578, AS).
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Pimenoff, V., Comas, D., Palo, J. et al. Northwest Siberian Khanty and Mansi in the junction of West and East Eurasian gene pools as revealed by uniparental markers. Eur J Hum Genet 16, 1254–1264 (2008). https://doi.org/10.1038/ejhg.2008.101
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DOI: https://doi.org/10.1038/ejhg.2008.101
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