Skip to main content
Log in

Gene pool differences between Northern and Southern Altaians inferred from the data on Y-chromosomal haplogroups

Russian Journal of Genetics Aims and scope Submit manuscript

Abstract

Y-chromosomal haplogroups composition and frequencies were analyzed in Northern and Southern Altaians. In the gene pool of Altaians a total of 18 Y-chromosomal haplogroups were identified, including C3xM77, C3c, DxM15, E, F*, J2, I1a, I1b, K*, N*, N2, N3a, O3, P*, Q*, R1*, R1a1, and R1b3. The structuring nature of the Altaic gene pool is determined by the presence of the Caucasoid and Mongoloid components, along with the ancient genetic substratum, marked by the corresponding Western and Eastern Eurasian haplogroups. Haplogroup R1a1 prevailed in both ethnic groups, accounting for about 53 and 38% of paternal lineages in Southern and Northern Altaians, respectively. This haplogroup is thought to be associated with the eastward expansion of early Indo-Europeans, and marks Caucasoid element in the gene pools of South Siberian populations. Similarly to haplogroup K*, the second frequent haplogroup Q* represents paleo-Asiatic marker, probably associated with the Ket and Samoyedic contributions to the Altaic gene pool. The presence of lineages N2 and N3a can be explained as the contribution of Finno-Ugric tribes, assimilated by ancient Turks. The presence of haplogroups C3xM77, C3c, N*, and O3 reflects the contribution of Central Asian Mongoloid groups. These haplogroups, probably, mark the latest movements of Mongolian migrants from the territory of contemporary Tuva and Mongolia. The data of factor analysis, variance analysis, cluster analysis, and phylogenetic analysis point to substantial genetic differentiation of Northern and Southern Altaians. The differences between Northern and Southern Altaians in the haplogroup composition, as well as in the internal haplotype structure were demonstrated.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Kiselev, S.V., Istoriya Yuzhnoi Sibiri (History of South Siberia), Moscow: Akad. Nauk SSSR, 1951, pp. 43–48.

    Google Scholar 

  2. Alekseev, V.P. and Gokhman, I.I., Antropologiya asiatskoi chasti SSSR (Anthropology of the Asian Part of the USSR), Moscow: Nauka, 1984.

    Google Scholar 

  3. Potapov, L.P., Ocherki po istorii altaitsev (Essays on the History of Altaians), Moscow: Akad. Nauk SSSR, 1953.

    Google Scholar 

  4. Potapov, L.P., Etnicheskii sostav i proiskhozhdenie altaitsev (Ethnic Composition and Origin of Altaians), Leningrad: Nauka, 1969.

    Google Scholar 

  5. Dolgikh, B.O., Rodovoi i plemennoi sostav narodov Sibiri v XVII v (Clan and Tribal Composition of Siberian Population in the 17th Century), Moscow, 1960.

  6. Alekseev, V.P., Paleoanthropology of Altai-Sayan Upland in Neolith Epoch and in Bronze, in Antropologicheskii sbornik, III (Antropological Collection, III), Proceedings of Institute of Ethnography, 1961, vol. 71, pp. 107–206.

    Google Scholar 

  7. Katsyuba, D.V. and Nikolaev, R.V., Etnografiya narodov Sibiri (Ethnography of the Peoples of Siberia), Kemerovo, 1994.

  8. Lotosh, E.A., Kolbasko, A.V., Dranishnikov, A.K., et al., Population, Medical, and Genetic Characteristic of Indigenous People of Altai Mountains, Vestn. Akad. Med. Nauk SSSR, 1984, no. 7, pp. 78–81.

  9. Luzina, F.A., Hereditary Polymorphism and Genetic Processes among Indigenous Population of Altai Mountains, Extended Abstract of Cand. Sci. (Biol.) Dissertation, Moscow State Univ., Moscow, 1987.

    Google Scholar 

  10. Kucher, A.N., Tadinova, V.N., and Puzyrev, V.P., Genetic and Demographic Characteristic of Rural Altai Republic Population: Sex and Age Constitution, Surname and Tribal Structure, Russ. J. Genet., 2005, vol. 41, no. 2, pp. 189–194.

    Article  CAS  Google Scholar 

  11. Rychkov, Yu.G., Serologic Differentiation in Population of Siberia, Vopr. Antropol., 1965, no. 21, p. 18.

  12. Sukernik, R.I. and Osipova, L.P., Distribution of Hereditary Variants of Haptoglobin and Transferrin among Some Human Populations in Siberia, Genetika (Moscow), 1976, vol. 12, no. 9, p. 139.

    CAS  Google Scholar 

  13. Sukernik, R.I., Karafet, T.N., Abanina, T.A., et al., Genetic Structure of Two Isolated Ethnic Populations in Siberia (North Altaians) Inferred from Results of Blood Groups and Isozymes Study, Genetika (Moscow), 1977, vol. 13, p. 911.

    CAS  Google Scholar 

  14. Posukh, O.L., Osipova, L.P., Kashinskaya, Yu.O., et al., A Genetic Study of the South Altaian Population of the Mendur-Sokkon Village, Altai Republic, Russ. J. Genet., 1998, vol. 34, no. 1, pp. 92–98.

    CAS  Google Scholar 

  15. Stepanov, V.A., Etnogenomika naseleniya Severnoi Evrazii (Population Ethnogenomics of Northern Eurasia), Tomsk: Pechatnaya Manufaktura, 2002.

    Google Scholar 

  16. Khitrinskaya, I.Yu., Genetic Diversity in Ethnic Populations in Siberia and Central Asia Relative to Polymorphic Alu-Insertions, Extended Abstract of Cand. Sci. (Biol.) Dissertation, Tomsk, 2003.

  17. Salyukov, V.B., Puzyrev, V.P., Golubenko, M.V., and Kutmin, A.I., Polymorphism of Noncoding Regions of the Mitochondrial Genome in the Indigenous Population of Southeastern Tuva Republic, Russ. J. Genet., 1998, vol. 34, no. 1, pp. 1205–1208.

    Google Scholar 

  18. Golubenko, M.V., Eremina, E.R., Tadinova, V.N., et al., Territorial Gene Pool Differentiation among Population of Siberia and Central Asia Relative to Restriction Polymorphism of Mitochondrial DNA, Med. Genet., 2002, vol. 1, no. 3, pp. 124–128.

    Google Scholar 

  19. Derenko, M.V., Denisova, G.A., Malyarchuk, B.A., et al., The Structure of the Gene Pools Ethnic Population of Altai-Sayan Based on Mitochondrial DNA Polymorphism Data, Russ. J. Genet., 2001, vol. 37, no. 10, pp. 1177–1184.

    Article  CAS  Google Scholar 

  20. Derenko, M.V., Grzybowski, T., Malyarchuk, B.A., et al., Diversity of Mitochondrial DNA Lineages in South Siberia, Ann. Hum. Genet., 2003, vol. 67, pp. 391–411.

    Article  PubMed  CAS  Google Scholar 

  21. Zakharov, I.A., Derenko, M.V., Malyarchuk, B.A., et al., Mitochondrial DNA Variation in the Aboriginal Populations of the Altai-Baikal Region, Ann. New York Acad. Sci., 2004, vol. 1011, pp. 21–35.

    Article  CAS  Google Scholar 

  22. Derenko, M.V., Malyarchuk, B.A., and Zakharov, I.A., Origin of Caucasoid-Specific Mitochondrial DNA Lineages in the Ethnic Populations of the Altai-Sayan Region, Russ. J. Genet., 2002, vol. 38, no. 9, pp. 1098–1103.

    Article  CAS  Google Scholar 

  23. Stepanov, V.A. and Puzyrev, V.P., Analysis of the Allele Frequencies of Seven Y-Chromosome Microsatellite Loci in Three Tuvinian Populations, Russ. J. Genet., 2000, vol. 36, no. 2, pp. 179–185.

    CAS  Google Scholar 

  24. Stepanov, V.A. and Puzyrev, V.P., Y-Chromosome Microsatellite Haplotypes Demonstrate Absence of Subdivision and Presence of Several Components in the Tuvinian Male Gene Pool, Russ. J. Genet., 2000, vol. 36, no. 3, pp. 298–304.

    CAS  Google Scholar 

  25. Derenko, M.V., Malyarchuk, B.A., Denisova, G.A., et al., Polymorphism of the Y-Chromosome Diallelic Loci in Ethnic Populations of the Altai-Sayan Region, Russ. J. Genet., 2002, vol. 38, no. 3, pp. 309–314.

    Article  CAS  Google Scholar 

  26. Derenko, M.V., Malyarchuk, B.A., Denisova, G.A., et al., Contrasting Patterns of Y-Chromosome Variation in South Siberian Populations from Baikal and Altai-Sayan Regions, Hum. Genet., 2006, vol. 118, pp. 591–604.

    Article  PubMed  Google Scholar 

  27. Karafet, T.M., Osipova, L.P., Gubina, M.A., et al., 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, vol. 74, no. 6, pp. 761–789.

    Article  PubMed  Google Scholar 

  28. Johns, M.B. and Pauls-Thomas, J.E., Purification of Human Genomic DNA from Whole Blood Using Sodium Perchlorate in Place of Phenol, Anal. Biochem., 1989, vol. 180, pp. 276–278.

    Article  PubMed  CAS  Google Scholar 

  29. The Y-Chromosome Consortium: A Nomenclature System for the Tree of Human Y-Chromosmal Binary Haplogroups, Genome Res., 2002, vol. 12, pp. 339–348.

  30. Kharkov, V.N, Stepanov, V.A., Borinskaya, S.A., et al., Gene Pool Structure of Eastern Ukrainians as Inferred from the Y-Chromosome Haplogroups, Russ. J. Genet., 2004, vol. 40, no. 3, pp. 326–333.

    Article  CAS  Google Scholar 

  31. Kharkov, V.N., Stepanov, V.A., Feshchenko, S.P., et al., Frequensies of Y Chromosome Binary Haplogroups in Belarussians, Russ. J. Genet., 2005, vol. 41, no. 8, pp. 928–931.

    Article  CAS  Google Scholar 

  32. Lell, J.T., Brown, M.D., Schurr, T.G., et al., Y Chromosome Polymorphism in Native American and Siberian Populations: Identification of Native American Y Chromosome Haplotypes, Hum. Genet., 1997, vol. 100, pp. 536–543.

    Article  PubMed  CAS  Google Scholar 

  33. Kwok, C., Tyler-Smith, C., Mendonca, B.B., et al., Mutation Analysis of the 2 kb 5′ to SRY in XY Females and XY Intersex Subjects, J. Med. Genet., 1996, vol. 33, pp. 465–468.

    Article  PubMed  CAS  Google Scholar 

  34. Cinnioglu C., King R., Kivisild T., et al., Excavating Y-Chromosome Haplotype Strata in Anatolia, Hum. Genet., 2004, vol. 114, pp. 127–148.

    Article  PubMed  Google Scholar 

  35. De Knijf, P., Kayser, M., Caglia, A., et al., Chromosome Y Microsatellites: Population Genetic and Evolutionary Aspects, Int. J. Legal Med., 1997, vol. 110, pp. 134–140.

    Article  Google Scholar 

  36. Kayser, M., Krawczak, M., and Excoffier, L., An Extensive Analysis of Y-Chromosomal Microsatellite Haplotypes in Globally Dispersed Human Populations, Am. J. Hum. Genet., 2001, vol. 68, pp. 990–1018.

    Article  PubMed  CAS  Google Scholar 

  37. Kayser, M., Kittler, R., Erler, A., et al., A Comprehensive Survey of Human Y-Chromosomal Microsatellites, Am. J. Hum. Genet., 2004, vol. 74, pp. 1183–1197.

    Article  PubMed  CAS  Google Scholar 

  38. Kim, J.O. and Mueller, C.W., Factor Analysis: Statistical Methods and Practical Issues, Sage University Paper Series on Quantitative Applications in the Social Sciences, no. 07-014, Newbury Park, CA: Sage, 1978.

    Google Scholar 

  39. Nei, M., Molecular Evolutionary Genetics, New York: Columbia Univ. Press, 1987.

    Google Scholar 

  40. Excoffier, L., Smouse, P., and Quattro, J., Analysis of Molecular Variance Inferred from Metric Distances among DNA Haplotypes: Application to Human Mitochondrial DNA Restriction Data, Genetics, 1992, vol. 131, pp. 479–491.

    PubMed  CAS  Google Scholar 

  41. Schneider, S., Roessli, D., and Excoffier, L., Arlequin, Version 2000: A Software for Population Genetics Data Analysis, 2000.

  42. Minch, E., Ruiz-Linares, A., and Goldstein, D., Microsat, Version 1.5d, Stanford Univ., 1998.

  43. Bandelt, H.-J., Forster, P., and Rohl, A., Median-Joining Networks for Inferring Intraspecific Phylogenies, Mol. Biol. Evol., 1999, vol. 16, pp. 37–48.

    PubMed  CAS  Google Scholar 

  44. Bandelt, H.-J., Forster, P., Sykes, B.C., and Richards, M.B., Mitochondrial Portraits of Human Populations Using Median Networks, Genetics, 1995, vol. 141, pp. 743–753.

    PubMed  CAS  Google Scholar 

  45. Kayser, M., Underhill, P., Shen, P., et al., Extreme Reduction in Y-Chromosome, but Not mtDNA, Diversity in Human Populations from West New Guinea, Am. J. Hum. Genet., 2003, vol. 72, pp. 281–302.

    Article  PubMed  CAS  Google Scholar 

  46. Saitou, N. and Nei, M., The Neighbour-Joining Method: a New Method for Reconstructing Phylogenetic Trees, Mol. Biol. Evol., 1987, vol. 4, pp. 406–425.

    PubMed  CAS  Google Scholar 

  47. Felsenstein, J., PHYLIP, Version 3.5, Seattle Univ., 1993.

  48. Quintana-Murci, L., Krausz C., Zerjal E., et al., Y-Chromosome Lineages Trace Diffusion of People and Languages in Southwestern Asia, Am. J. Hum. Genet., 2001, vol. 68, pp. 537–542.

    Article  PubMed  CAS  Google Scholar 

  49. Rosser, Z.H., Zerjal T., Hurles M.E., et al., Y-Chromosomal Diversity in Europe Is Clinal and Influenced Primarily by Geography, Rather Than by Language, Am. J. Hum. Genet., 2000, vol. 67, pp. 1526–1543.

    Article  PubMed  CAS  Google Scholar 

  50. Semino, O., Passarino, G., Oefner, P.J., et al., The Genetic Legacy of Paleolithic Homo sapiens in Extant Europeans: A Y-Chromosome Perspective, Science, 2000, vol. 290, pp. 1155–1159.

    Article  PubMed  CAS  Google Scholar 

  51. Semino, O., Magri, M., Benuzzi, G., et al., Origin, Diffusion, and Differentiation of Y-Chromosome Haplogroups E and J: Inferences on the Neolithization of Europe and Later Migratory Events in the Mediterranean Area, Am. J. Hum. Genet., 2004, vol. 74, pp. 1023–1034.

    Article  PubMed  CAS  Google Scholar 

  52. Rootsi, S., Magri, C., Kivisild, T., et al., Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe, Am. J. Hum. Genet., 2004, vol. 75, pp. 128–137.

    Article  PubMed  CAS  Google Scholar 

  53. Seielstad, M., Yuldasheva, N., Singh, N., et al., A Novel Y-Chromosome Variant Puts an Upper Limit on the Timing of First Entry into the Americas, Am. J. Hum. Genet., 2003, vol. 73, pp. 700–705.

    Article  PubMed  CAS  Google Scholar 

  54. Zegura, S.L., Karafet, T.M., Zhivotovsky, L.A., et al., High-Resolution SNPs and Microsatellite Haplotypes Point to a Single, Recent Entry of Native American Y-Chromosomes into the Americas, Mol. Biol. Evol., 2004, vol. 21, pp. 164–175.

    Article  PubMed  CAS  Google Scholar 

  55. Popov, A.A., and Dolgikh, B.O., The Kelts, in The Peoples of Siberia, Levin, M.G., Potapov, L.P., et al., Eds., Chicago: Univ. of Chicago Press, 1964, pp. 607–619.

    Google Scholar 

  56. Prokofieva, E.D., The Selkups, in The Peoples of Siberia, Levin, M.G., Potapov, L.P., et al., Eds., Chicago: Univ. of Chicago Press, 1964, pp. 587–606.

    Google Scholar 

  57. Zerjal, T., Dashnymaan, B., Pandya, A., et al., Genetic Relationship of Asians and Northern Europeans, Revealed by Y-Chromosomal DNA Analysis, Am. J. Hum. Genet., 1997, vol. 60, pp. 1174–1183.

    PubMed  CAS  Google Scholar 

  58. Villems, R., Adojaan, M., Kivisild, M., et al., Reconstruction of Maternal Lineages of Finno-Ugric Speaking People and Some Remarks on their Paternal Inheritance, in The Roots of Peoples and Languages of Northern Eurasia: I, Turku: Societas Historiae Fenno-Ugricae, 1998, p. 241.

    Google Scholar 

  59. Rootsi, S., Kivisild, T., Tambets, K., et al., On the Phylogeographic Context of Sex-Specific Genetic Markers of Finno-Ugric Populations, in The Roots of Peoples and Languages of Northern Eurasia: II–III, Tartu: Univ. Tartu, 2000, pp. 148–164.

    Google Scholar 

  60. 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, vol. 74, pp. 661–682.

    Article  PubMed  CAS  Google Scholar 

  61. Jobling, M.A. and Tyler-Smith, C., The Human Y Chromosome: An Evolutionary Marker Comes of Age, Nat. Rev. Genet., 2003, vol. 4, pp. 598–612.

    Article  PubMed  CAS  Google Scholar 

  62. Zerjal, T., Xue, Y., Bertorelle, G., et al., The Genetic Legacy of the Mongols, Am. J. Hum. Genet., 2003, vol. 72, pp. 717–721.

    Article  PubMed  CAS  Google Scholar 

  63. Karafet, T.M., Xu, L., Du, R., et al., Paternal Population History of East Asia: Sources, Patterns, and Microevolutionary Processes, Am. J. Hum. Genet., 2001, vol. 69, pp. 615–628.

    Article  PubMed  CAS  Google Scholar 

  64. Lell, J.T., Sukemik, R.I., Starikovskaya, Y.B., et al., The Dual Origin and Siberian Affinities of Native American Y Chromosomes, Am. J. Hum. Genet., 2002, vol. 70, pp. 192–206.

    Article  PubMed  CAS  Google Scholar 

  65. Su, B., Xiao, J., Underhill, P.A., 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, vol. 65, pp. 1718–1724.

    Article  PubMed  CAS  Google Scholar 

  66. Kayser, M., Schiefenhovel, W., Underhill, P.A., et al., Independent Histories of Human Y Chromosomes from Melanesia and Australia, Am. J. Hum. Genet., 2001, vol. 68, pp. 173–190.

    Article  PubMed  CAS  Google Scholar 

  67. Xue, Y., Zerjal, T., Bao, W., et al., Recent Spread of a Y-Chromosomal Lineage in Northern China and Mongolia, Am. J. Hum. Genet., 2005, vol. 77, pp. 1112–1116.

    Article  PubMed  CAS  Google Scholar 

  68. Cockerham, C.C., Analysis of Gene Frequencies, Genetics, 1973, vol. 74, pp. 679–700.

    PubMed  Google Scholar 

  69. Cockerham, C.C., Variance of Gene Frequencies, Evolution, 1969, vol. 23, pp. 72–84.

    Article  Google Scholar 

  70. Weir, B.S. and Cockerham, C.C., Estimating F-Statistics for the Analysis of Population Structure, Evolution, 1984, vol. 38, pp. 1358–1370.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

Original Russian Text © V.N. Kharkov, V.A. Stepanov, O.F. Medvedeva, M.G. Spiridonova, M.I. Voevoda, V.N. Tadinova, V.P. Puzyrev, 2007, published in Genetika, 2007, Vol. 43, No. 5, pp. 675–687.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kharkov, V.N., Stepanov, V.A., Medvedeva, O.F. et al. Gene pool differences between Northern and Southern Altaians inferred from the data on Y-chromosomal haplogroups. Russ J Genet 43, 551–562 (2007). https://doi.org/10.1134/S1022795407050110

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1134/S1022795407050110

Keywords

Navigation