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Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions

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Abstract

In order to investigate the genetic history of autochthonous South Siberian populations and to estimate the contribution of distinct patrilineages to their gene pools, we have analyzed 17 Y-chromosomal binary markers (YAP, RPS4Y711, SRY-8299, M89, M201, M52, M170, 12f2, M9, M20, 92R7, SRY-1532, DYS199, M173, M17, Tat, and LLY22 g) in a total sample of 1,358 males from 14 ethnic groups of Siberia (Altaians-Kizhi, Teleuts, Shors, Tuvinians, Todjins, Tofalars, Sojots, Khakassians, Buryats, Evenks), Central/Eastern Asia (Mongolians and Koreans) and Eastern Europe (Kalmyks and Russians). Based on both, the distribution pattern of Y-chromosomal haplogroups and results on AMOVA analysis we observed the statistically significant genetic differentiation between the populations of Baikal and Altai–Sayan regions. We suggest that these regional differences can be best explained by different contribution of Central/Eastern Asian and Eastern European paternal lineages into gene pools of modern South Siberians. The population of the Baikal region demonstrates the prevalence of Central/Eastern Asian lineages, whereas in the populations of Altai and Sayan regions the highest paternal contribution resulted from Eastern European descent is revealed. Yet, our data on Y-chromosome STRs variation demonstrate the clear differences between the South Siberian and Eastern European R1a1-lineages with the evolutionary ages compatible with divergence time between these two regional groups.

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References

  • Alekseev V (1998) The physical specificities of Paleolithic hominids in Siberia. In: Derev’anko AP (ed) The Paleolithic of Siberia: New discoveries and interpretations. University of Illinois Press, Urbana, pp 329–335

    Google Scholar 

  • Alexeev VP (1989) Historical anthropology and ethnogenesis. Nauka, Moscow

    Google Scholar 

  • Alexeev VP, Gohman II (1984) Anthropology of Asiatic part of the USSR. Nauka, Moscow

    Google Scholar 

  • Bandelt H-J, Forster P, Röhl A (1999) Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 16:37–48

    PubMed  CAS  Google Scholar 

  • Bandelt H-J, Forster P, Sykes BC, Richards MB (1995) Mitochondrial portraits of human populations using median networks. Genetics 141:743–753

    PubMed  CAS  Google Scholar 

  • Bortolini MC, Salzano FM, Thomas MG, Stuart S, Nasanen SP, Bau CH, Hutz MH, Layrisse Z, Petzl-Erler ML, Tsuneto LT, Hill K, Hurtado AM, Castro-de-Guerra D, Torres MM, Groot H, Michalski R, Nymadawa P, Bedoya G, Bradman N, Labuda D, Ruiz-Linares A (2003) Y-chromosome evidence for differing ancient demographic histories in the Americas. Am J Hum Genet 73:524–539

    Article  PubMed  CAS  Google Scholar 

  • Cavalli-Sforza LL, Menozzi P, Piazza A (1994) The history and geography of human genes. Princeton University Press, Princeton

    Google Scholar 

  • Chlachula J (2001) Pleistocene climate change, natural environments and palaeolithic occupation of the Altai area, west-central Siberia. Quaternary International 80–81:131–167

    Article  Google Scholar 

  • Derbeneva OA, Sukernik RI, Volodko NV, Hosseini SH, Lott MT, Wallace DC (2002) Analysis of mitochondrial DNA diversity in the Aleuts of the Commander islands and its implications for the genetic history of Beringia. Am J Hum Genet 71:415–21

    Article  PubMed  CAS  Google Scholar 

  • Derenko MV, Grzybowski T, Malyarchuk BA, Czarny J, Miscicka-Sliwka D, Zakharov IA (2001) The presence of mitochondrial haplogroup X in Altaians from South Siberia. Am J Hum Genet 69:237–241

    Article  PubMed  CAS  Google Scholar 

  • Derenko MV, Grzybowski T, Malyarchuk BA, Dambueva IK, Denisova GA, Czarny J, Dorzhu CM, Kakpakov VT, Miscicka-Sliwka D, Wozniak M, Zakharov IA (2003) Diversity of mitochondrial DNA lineages in South Siberia. Ann Hum Genet 67:391–411

    Article  PubMed  CAS  Google Scholar 

  • Derenko MV, Malyarchuk BA, Dambueva IK, Shaikhaev GO, Dorzhu CM, Nimaev DD, Zakharov IA (2000) Mitochondrial DNA variation in two South Siberian Aboriginal populations: implications for the genetic history of North Asia. Hum Biol 72:945–973

    PubMed  CAS  Google Scholar 

  • Derenko MV, Malyarchuk BA, Denisova GA, Dorzhu CM, Karamchakova ON, Luzina FA, Lotosh EA, Dambueva IK, Zakharov IA (2002) Polymorphism of Y-chromosome diallelic loci in native populations of Altai-Sayan region. Rus J Genet 38:309–314

    Article  CAS  Google Scholar 

  • Derevianko AP (1998) Human occupation of nearby regions and the role of population movements in the Paleolithic of Siberia. In: Derev’yanko AP (ed) The Paleolithic of Siberia: New Discoveries and Interpretations. University of Illinois Press, Urbana, pp 336–351

    Google Scholar 

  • Derevianko AP, Zenin VN (1996) Preliminary results of field investigations of the Late Palaeolithic site Shestakhovo in 1996. In: Derevianko AP, Molodin VI (eds) New archaeological and ethnographic discoveries in Siberia (in Russian). Institute of Archaeology and Ethnography Press, Novosibirsk, pp 60–63

    Google Scholar 

  • Excoffier L, Smouse P, Quattro J (1992) Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 131:479–491

    PubMed  CAS  Google Scholar 

  • Fedorova SA, Bermisheva MA, Villems R, Maksimova NR, Khusnutdinova EK (2003) Analysis of mitochondrial DNA haplotypes in Yakut population. Mol Biol (Mosk) 37: 643–653

    Article  CAS  Google Scholar 

  • Flores C, Maca-Meyer N, Perez JA, Gonzalez AM, Larruga JM, Cabrera VM (2003) A predominant European ancestry of paternal lineages from Canary Islanders. Ann Hum Genet 67:138–52

    Article  PubMed  CAS  Google Scholar 

  • Galushkin SK, Spitsyn VA, Crawford MH (2001) Genetic structure of Mongolic-speaking Kalmyks. Hum Biol 73:823–834

    Article  PubMed  CAS  Google Scholar 

  • Goebel T (1999) Pleistocene human colonization of Siberia and peopling of the Americas: an ecological approach. Evol Anthropol 8:208–227

    Article  Google Scholar 

  • Hammer MF, Karafet TM, Redd AJ (2001) Hierarchical patterns of global human Y-chromosome diversity. Mol Biol Evol 18:1189–1203

    PubMed  CAS  Google Scholar 

  • Karafet TM, Osipova LP, Gubina MA, Posukh OL, Zegura SL, Hammer MF (2002) High levels of Y-chromosome differentiation among native Siberian populations and the genetic signature of a boreal hunter-gatherer way of life. Hum Biol 74:761–89

    Article  PubMed  Google Scholar 

  • Karafet TM, Posukh OL, Osipova LP (1994) Results and perspectives of human population studies in Siberia (in Russian). Siberian Journal of Ecology 2:105–118

    Google Scholar 

  • Karafet TM, Xu R, Du R, Wang W, Feng S, Wells RS, Redd AJ, Zegura SL, Hammer MF (2001) Paternal population history of East Asia: sources, patterns and microevolutionaty processes. Am J Hum Genet 69:615–628

    Article  PubMed  CAS  Google Scholar 

  • Karafet TM, Zegura SL, Posukh O, Osipova L, Bergen A, Long J, Goldman D, Klitz W, Harihara S, de Kniff P, Wiebe V, Griffiths RC, Templeton AR, Hammer MF (1999) Ancestral Asian source(s) of New World Y-chromosome founder haplotypes. Am J Hum Genet 64:817–831

    Article  PubMed  CAS  Google Scholar 

  • Ke Y, Su B, Song X, Lu D, Chen L, Li H, Qi C, Marzuki S, Deka R, Underhill P, Xiao C, Shriver M, Lell J, Wallace D, Wells RS, Seielstad M, Oefner P, Zhu D, Jin J, Huang W, Chakraborty R, Chen Z, Jin L (2001) African origin of modern humans in East Asia: a tale of 12,000 Y chromosomes. Science 292:1151–1153

    Article  PubMed  CAS  Google Scholar 

  • Kruskal JB (1964) Multidimensional scaling by optimizing goodness of fit to a nonmetric hypothesis. Psychometrika 29:1–27

    Article  Google Scholar 

  • Lell JT, Sukernik RI, Starikovskaya YB, Su B, Jin L, Schurr TG, Underhill PA, Wallace DC (2002) The dual origin and Siberian affinities of Native American Y chromosomes. Am J Hum Genet 70:192–206

    Article  PubMed  CAS  Google Scholar 

  • Medvedev G, Cauwe N, Vorob’eva G, Coupe D, Claes L, Lepnina E, Modrie S, Mukharramov S, Osadchy S, Pettitte P, Rebrikov P, Rogovsky E, Sitlivyi V, Sulerzhitsky L, Khenzykhenova D (1996) The Malta Paleolithic locality. ARCOM Press, Irkutsk

    Google Scholar 

  • Okladnikov AP (1981) The Palaeolithic of Central Asia. Moltyn-Am (Mongolia) (in Russian). Nauka, Novosibirsk

  • Pakendorf B, Wiebe V, Tarskaia LA, Spitsyn VA, Soodyall H, Rodewald A, Stoneking M (2003) Mitochondrial DNA evidence for admixed origins of central Siberian populations. Am J Phys Anthropol 120:211–224

    Article  PubMed  Google Scholar 

  • Puzyrev VP, Stepanov VA, Golubenko MV, Puzyrev KV, Maksimova NR, Khar’kov VN, Spiridonova MG, Nogovitsyna AN (2003) MtDNA and Y-chromosome lineages in the Yakut population. Genetika 39:975–981

    PubMed  CAS  Google Scholar 

  • Raymond M, Rousset F (1995) An exact test of population differentiation. Evolution 49:1280–1283

    Article  Google Scholar 

  • Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Côrte-Real HBSM, Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill E, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenco SA, Krumina A, Kučinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith C, Jobling MA (2000) Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language. Am J Hum Genet 67:1526–1543

    Article  PubMed  CAS  Google Scholar 

  • Rychkov YG, Sheremetyeva VA (1980) The genetics of circumpolar populations of Eurasia related to the problem of human adaptation. In: Milan F (ed) The human biology of circumpolar populations, Cambridge University, London, pp 37–80

    Google Scholar 

  • Rychkov YG, Zhukova OV, Sheremetyeva VA, Spitsyn VA, Brook SI, Lebedeva IA, Afanasyeva IS, Balanovskaya EV, Nazarova AF, Borodina SR, Udina IG, Shneider YV, Signeyev VI, Petrishchev VN, Rautian GS, Syskova NN, Tichomirova EV (2000) Gene pool of population of Russia and contiguous countries. In: Rychkov YG (eds) Gene pool and genegeography of population (in Russian). Nauka, Saint Peterburg, pp 13–611

    Google Scholar 

  • Santos FR, Pandya A, Tyler-Smith C, Pena SD, Schanfield M, Leonard WR, Osipova L, Crawford MH, Mitchell RJ (1999) The central Siberian origin for native American Y chromosomes. Am J Hum Genet 64: 619–628

    Article  PubMed  CAS  Google Scholar 

  • Schneider S, Roessli D, Excoffier L (2000) Arlequin v. 2.000: a software for population genetics data analysis. Switzerland, Genetics and Biometry Laboratory, University of Geneva, Geneva

  • Schurr TG, Sukernik RI, Starikovskaya YB, Wallace DC (1999) Mitochondrial DNA variation in Koryaks and Itel’men: population replacement in the Okhotsk Sea-Bering Sea region during the Neolithic. Am J Phys Anthropol 108:1–39

    Article  PubMed  CAS  Google Scholar 

  • Semino O, Passarino G, Oefner PJ, Lin AA, Arbuzova S, Beckman LE, De Benedictis G, Francalacci P, Kouvatsi A, Limborska S, Marcikiae M, Mika A, Mika B, Primorac D, Santachiara-Benerecetti AS, Cavalli-Sforza LL, Underhill PA (2000) The genetic legacy of Paleolithic Homo sapiens in extant Europeans: a Y chromosome perspective. Science 290:1155–1159

    Article  PubMed  CAS  Google Scholar 

  • Shi H, Dong YL, Wen B, Xiao CJ, Underhill PA, Shen PD, Chakraborty R, Jin L, Su B (2005) Y-chromosome evidence of southern origin of the East Asian-specific haplogroup O3-M122. Am J Hum Genet 77:408–419

    Article  PubMed  CAS  Google Scholar 

  • Shields GF, Schmiechen AM, Frazier BL, Redd A, Voevoda MI, Reed JK, Ward RH (1993) mtDNA sequences suggest a recent evolutionary divergence for Beringian and northern North American populations. Am J Hum Genet 53:549–62

    PubMed  CAS  Google Scholar 

  • Starikovskaya YB, Sukernik RI, Schurr TG, Kogelnik AM, Wallace DC (1998) mtDNA diversity in Chukchi and Siberian Eskimos: implications for the genetic history of Ancient Beringia and the peopling of the New World. Am J Hum Genet 63:1473–91

    Article  PubMed  CAS  Google Scholar 

  • Su B, Xiao J, Underhill P, Deka R, Zhang W, Akey J, Huang W, Shen D, Lu D, Luo J, Chu J, Tan J, Shen P, Davis R, Cavalli-Sforza L, Chakraborty R, Xiong M, Du R, Oefner P, Chen Z, Jin L (1999) Y-Chromosome evidence for a northward migration of modern humans into Eastern Asia during the last Ice Age. Am J Hum Genet 65:1718–1724

    Article  PubMed  CAS  Google Scholar 

  • Sukernik RI, Shur TG, Starikovskaia EB, Walles DC (1996) Mitochondrial DNA variation in native inhabitants of Siberia with reconstructions of the evolutional history of the American Indians. Restriction polymorphism. Genetika 32:432–439

    PubMed  CAS  Google Scholar 

  • Torroni A, Sukernik RI, Schurr TG, Starikorskaya YB, Cabell MF, Crawford MH, Comuzzie AG, Wallace DC (1993) mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet 53:591–608

    PubMed  CAS  Google Scholar 

  • Underhill PA, Shen P, Lin AA, Jin L, Passarino G, Yang WH, Kauffman E, Bonne-Tamir B, Bertranpetit J, Francalacci P, Ibrahim M, Jenkins T, Kidd JR, Mehdi SQ, Seielstad MT, Wells RS, Piazza A, Davis RW, Feldman MW, Cavalli-Sforza LL, Oefner PJ (2000) Y chromosome sequence variation and the history of human populations. Nat Genet 26:358–361

    Article  PubMed  CAS  Google Scholar 

  • Vasiliev SA (1993) The Upper Paleolithic of northern Asia. Curr Anthropol 34:82–92

    Article  Google Scholar 

  • Vasiliev SA, Yamskikh AF, Yamskikh GI, Svezhentsev YS, Kasparov AK (1999) Stratigraphy and palaeoecology of the Upper Palaeolithic sites near the Maima village (Upper Yenisei valley, Siberia). In: Chlachula J, Kemp RA, Tyráček J (eds) Quaternary of Siberia. Quaternary Geology, Paleogeography and Palaeolithic Archaeology. Anthropozoikum 23:29–35

  • Wells RS, Yuldasheva N, Ruzibakiev R, Underhill PA, Evseeva I, Blue-Smith J, Jin L, Su B, Pitchappan R, Shanmugalakshmi S, Balakrishnan K, Read M, Pearson NM, Zerjal T, Webster MT, Zholoshvili I, Jamarjashvili E, Gambarov S, Nikbin B, Dostiev A, Aknazarov O, Zalloua P, Tsoy I, Kitaev M, Mirrakhimov M, Chariev A, Bodmer WF (2001) The Eurasian heartland: a continental perspective on Y-chromosome diversity. Proc Natl Acad Sci USA 98:10244–10249

    Article  PubMed  CAS  Google Scholar 

  • Y Chromosome Consortium (2002) A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res 2:339–348

    Article  CAS  Google Scholar 

  • Zerjal T, Dashnyam B, Pandya A, Kayser M, Roewer L, Santos FR, Schiefenhovel W, Fretwell N, Jobling MA, Harihara S, Shimizu K, Semjidmaa D, Sajantila A, Salo P, Crawford MH, Ginter EK, Evgrafov OV, Tyler-Smith C (1997) Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am J Hum Genet 60:1174–1183

    PubMed  CAS  Google Scholar 

  • Zerjal T, Wells RS, Yuldasheva N, Ruzibakiev R, Tyler-Smith C (2002) A genetic landscape reshaped by recent events: Y-chromosomal insights into Central Asia. Am J Hum Genet 71:466–482

    Article  PubMed  CAS  Google Scholar 

  • Zhivotovsky LA (2001) Estimating divergence time with the use of microsatellite genetic distances: impacts of population growth and gene flow. Mol Biol Evol 18:700–709

    PubMed  CAS  Google Scholar 

  • Zhivotovsky LA, Underhill PA, Cinnioglu C, Kayser M, Morar B, Kivisild T, Scozzari R, Cruciani F, Destro-Bisol G, Spedini G, Chambers GK, Herrera RJ, Yong KK, Gresham D, Tournev I, Feldman MW, Kalaydjieva L (2004) The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. Am J Hum Genet 74:50–61

    Article  PubMed  CAS  Google Scholar 

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Acknowledgements

We thank all the donors for making this work possible, A. Jakubowska, K. Filipenko, A. Lunkina and M. Perkova for technical assistance. We also thank L.A. Zhivotovsky for his help concerning the statistical analyses of STR data. This research has been supported by the Russian Foundation for Basic Research through the grants 03-04-48162 and 04-04-48746; by the grant from the Polish State Committee for Scientific Research (3P04C 04823); by the grant from the Far-East Branch of the Russian Academy of Sciences (03-3-A-06-047) and by the Program of Basic Research of Russian Academy of Sciences “Dynamics of plant, animal and human gene pools”. M.D. was supported in part by the Józef Mianowski Fund.

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  1. Genetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya str. 18, Magadan, Russia

    Miroslava Derenko, Boris Malyarchuk & Galina A. Denisova

  2. Forensic Medicine Institute, Ludwik Rydygier Medical College, Nicolaus Copernicus University in Torun, 85-094, Bydgoszcz, Poland

    Marcin Wozniak & Danuta Miścicka-Śliwka

  3. Institute of General and Experimental Biology, Russian Academy of Sciences, 670047, Ulan-Ude, Russia

    Irina Dambueva

  4. Tuva State University, 667035, Kyzyl, Russia

    Choduraa Dorzhu

  5. Institute of Professional Diseases and Hygiene Problems, Russian Academy of Medical Sciences, Novokuznetsk, 654041, Russia

    Faina Luzina

  6. Animal Comparative Genetics Laboratory, Vavilov Institute of General Genetics, Russian Academy of Sciences, Gubkin Str. 3, Moscow, Russia

    Ilia Zakharov

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  1. Miroslava Derenko
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  2. Boris Malyarchuk
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Correspondence to Miroslava Derenko.

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Derenko, M., Malyarchuk, B., Denisova, G.A. et al. Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions. Hum Genet 118, 591–604 (2006). https://doi.org/10.1007/s00439-005-0076-y

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