Advertisement

Russian Journal of Genetics

, Volume 49, Issue 12, pp 1236–1244 | Cite as

Gene-pool structure of Tuvinians inferred from Y-chromosome marker data

  • V. N. Kharkov
  • K. V. Khamina
  • O. F. Medvedeva
  • K. V. Simonova
  • I. Yu. Khitrinskaya
  • V. A. Stepanov
Human Genetics

Abstract

The gene-pool structure of Tuvinians was examined in terms of the composition and frequency of Y-chromosome haplogroups in five geographically distanct populations. In the Tuvinian gene pool, a total of 22 haplogroups were identified with six of these, which were the most frequent (C3c, C3*, N1b, N1c1, Q1a3, and R1a1a). It was demonstrated that eastern regions of Tuva were most different from the other regions in haplotype frequencies. The evaluation of genetic diversity based on the frequencies of biallelic haplogroups and YSTR haplotypes revealed very high diversity values for all samples. In general, the genetic diversity values identified in Tuvinians were the highest for the indigenous ethnic groups of Siberia. The evaluation of the genetic differentiation of the samples examined using the analysis of molecular variance (AMOVA) showed that the gene pool of Tuvinians was relatively poorly differentiated with respect to haplogroup frequencies. Phylogenetic analysis within haplogroup N1b revealed strong founder effect, i.e., reduced diversity and star-like phylogeny of the median network of haplotypes, which formed a separate subcluster exclusive to Tuvinians. It was demonstrated that, in Tuvinians, haplogroup N1c1 was the most heterogeneous in haplotype profile and consisted of three different haplotype clusters, demonstrating considerable differences of western population from the rest of the Tuva populations. Phylogenetic analysis of haplogroups revealed common components for Tuvinians, Khakasses, Altaians, and Mongols.

Keywords

Gene Pool Median Network Haplotype Cluster Sayan Region Caucasoid Population 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Alekseev, V.P. and Gokhman, I.I., Antropologiya aziatskoi chasti SSSR (Anthropology of the Asian Part of the Soviet Union), Moscow, 1984.Google Scholar
  2. 2.
    Moiseev, V.G., Anthropological content of the Turkic speaking peoples on the West-Siberian Plain inferred from craniological data, in Vtoroi mezhdunarodnyi kongress etnografov i antropologov: rezyume dokladov i soobshchenii (The Second International Congress of Ethnographers and Anthropologists: Abstracts of Reports and Communications), Ufa: Vostochnyi Univ., 1997, part 1, pp. 57–58.Google Scholar
  3. 3.
    Alekseev, V.P., A brief review of palaeoanthropology of Tuva in relation to historical questions, in Antropologicheskie issledovaniya v Tuve (Anthropological Research in Tuva), Moscow: Nauka, 1984, pp. 17–28.Google Scholar
  4. 4.
    Kiselev, S.V., Istoriya Yuzhnoi Sibiri (History of South Siberia), Moscow: Akad. Nauk SSSR, 1951.Google Scholar
  5. 5.
    Debets, G.F., Paleoantropologiya SSSR (Palaeoanthropology of the Soviet Union), vol. 4 of Trudy instituta etnografii AN SSSR (Transections of the Institute of Ethnography, Academy of Sciences of the Soviet Union), Moscow: Akad. Nauk SSSR, 1948.Google Scholar
  6. 6.
    Puzyrev, V.P., Erdynieva, L.S., Kucher, A.N., and Nazarenko, L.P., Genetiko-epidemiologicheskoe issledovanie naseleniya Tuvy (Genetic Epidemiologic Study of the Tuva Population), Tomsk: STT, 1999.Google Scholar
  7. 7.
    Kucher, A.N., Ondar, E.A., Stepanov, V.A., et al., Tuvintsy: geny, demografiya, zdorov’e (Tuvinians: Genes, Demography, Health), Tomsk: Pechatnaya Manufaktura, 2003.Google Scholar
  8. 8.
    Potapov, L.P., Ocherki narodnogo byta tuvintsev (Essays on the Traditional Life of Tuvinians), Moscow: Nauka, 1969.Google Scholar
  9. 9.
    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.Google Scholar
  10. 10.
    Khar’kov, 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., 2007, vol. 43, no. 5, pp. 551–562.CrossRefGoogle Scholar
  11. 11.
    Khar’kov, V.N., Stepanov, V.A., Medvedeva, O.F., et al., The origin of Yakuts: analysis of the Y-chromosome haplotypes, Mol. Biol. (Moscow), 2008, vol. 42, no. 2, pp. 198–237.CrossRefGoogle Scholar
  12. 12.
    Khar’kov, V.N., Medvedeva, O.F., Luzina, F.A., et al., Comparative characteristics of the gene pool of Teleuts inferred from Y-chromosomal marker data, Russ. J. Genet., 2009, vol. 45, no. 8, pp. 994–1003.CrossRefGoogle Scholar
  13. 13.
    Khar’kov, V.N., Khamina, K.V., Medvedeva, O.F., et al., Genetic diversity of the Khakass gene pool: subethnic differentiation and the structure of Y-chromosome haplogroups, Mol. Biol. (Moscow), 2011, vol. 45, no. 3, pp. 404–416.CrossRefGoogle Scholar
  14. 14.
    Derenko, M., Malyarchuk, B., Denisova, G., et al., Contrasting patterns of Y-chromosome variation in South Siberian population from Baikal and Altai-Sayan regions, Hum. Genet., 2006, vol. 118, pp. 591–604.PubMedCrossRefGoogle Scholar
  15. 15.
    Derenko, M., Malyarchuk, B., Denisova, G., et al., Y Chromosome haplogroup N dispersals from South Siberia to Europe, J. Hum. Genet., 2007, vol. 52, no. 9, pp. 763–770.PubMedCrossRefGoogle Scholar
  16. 16.
    Malyarchuk, B., Derenko, M., and Denisova, G., Phylogeography of the Y-chromosome haplogroup C in northern Eurasia, Ann. Hum. Genet., 2010, vol. 74, pp. 539–546.PubMedCrossRefGoogle Scholar
  17. 17.
    Malyarchuk, B., Derenko, M., and Denisova, G., Ancient links between Siberians and native Americans revealed by subtyping the Y chromosome haplogroup Q1a, J. Hum. Genet., 2011, vol. 56, pp. 583–586.PubMedCrossRefGoogle Scholar
  18. 18.
    The Y-Chromosome Consortium: A nomenclature system for the tree of human Y-chromosmal binary haplogroups, Genome Res., 2002, vol. 12, pp. 339–348.Google Scholar
  19. 19.
    Karafet, T.M., Mendez, F.L., Meilerman, M.B., et al., New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree, Genome Res., 2008, vol. 18, pp. 830–838.PubMedCrossRefGoogle Scholar
  20. 20.
  21. 21.
    Khar’kov, 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. 326–331.CrossRefGoogle Scholar
  22. 22.
    Khar’kov, V.N, Stepanov, V.A., Feshchenko, S.P., et al., Frequencies of Y chromosome binary haplogroups in Belarussians, Russ. J. Genet., 2005, vol. 41, pp. 928–931.CrossRefGoogle Scholar
  23. 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.Google Scholar
  24. 24.
    Butler, J.M., Schoske, R., Vallone, P.M., et al., A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers, Forensic Sci. Int., 2002, vol. 129, no. 1, pp. 10–24.PubMedCrossRefGoogle Scholar
  25. 25.
    Ayub, Q., Mohyuddin, A., Qamar, R., et al., Identification and characterization of novel human Y-chromosomal microsatellites from sequence database information. Nucleic Acids Res., 2000, vol. 28, no. 2, p. e8.PubMedCrossRefGoogle Scholar
  26. 26.
    Nei, M., Molecular Evolutionary Genetics, New York: Columbia Univ. Press, 1987.Google Scholar
  27. 27.
    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.PubMedGoogle Scholar
  28. 28.
    Excoffier, L., Laval, G., and Schneider, S., Arlequin ver. 3.0: an integrated software package for population genetics data analysis, Evol. Bioinform. Online, 2005, vol. 1, pp. 47–50.Google Scholar
  29. 29.
    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.PubMedGoogle Scholar
  30. 30.
    Bandelt, H.-J., Forster, P., and Rohl, A., Median-joining networks for inferring intraspecific phylogenies, Mol. Biol. Evol., 1999, vol. 16, pp. 37–48.PubMedCrossRefGoogle Scholar
  31. 31.
    Khar’kov, V.N. and Stepanov, V.A., Gene pool structure of Buryats as inferred from the Y-chromosome haplogroups: clinal variation and territorial partitioning, in Osob’ i populyatsiya-strategii zhizni (Individual and Population-Life Strategies), (Proc. 9th All-Russian Population Seminar), Ufa, 2006, pp. 520–523.Google Scholar
  32. 32.
    Bogdanova, V.I., Some questions of the anthropological content formation of modern Tuvinians, Sov. Etnograf., 1978, no. 6, pp. 46–60.Google Scholar
  33. 33.
    Stepanov, V.A., Etnogenomika naseleniya Severnoi Evrazii (Ethnogenomics of the Northern Eurasia Population), Tomsk: Pechatnaya Manufaktura, 2002.Google Scholar
  34. 34.
    Kucher, A.N., Puzyrev, V.P., Sanchat, N.O., and Erdynieva, L.S., Genetic demographic characteristics of the rural population of the Tuva Republic: ethnic and tribal composition and sex and age structure, Russ. J. Genet., 1999, vol. 35, no. 5, pp. 580–585.Google Scholar
  35. 35.
    Golubenko, M.V., Eremina, E.R., Tadinova, V.N., et al., Distribution of Europeoid and Mongoloid mitochondrial DNA haplogroups among populations of Siberia and Central Asia, in Genofond naseleniya Sibiri (Gene Pool of Siberian Population), Konenkov, V.I., Puzyrev, V.P., and Voevody, M.I., Eds., Novosibirsk: Institute Arkheologii i Etnografii Sibirskogo Otdeleniya Rossyskoy Akademii Nauk, 2003, pp. 9–13.Google Scholar
  36. 36.
    Golubenko, M.V., Puzyrev, V.P., Salyukov, V.B., et al., Distribution of “Mongoloid” haplogroups of mitochondrial DNA among indigenous population of the Tuva Republic, Russ. J. Genet., 2001, vol. 37, no. 6, pp. 683–692.CrossRefGoogle Scholar
  37. 37.

Copyright information

© Pleiades Publishing, Inc. 2013

Authors and Affiliations

  • V. N. Kharkov
    • 1
  • K. V. Khamina
    • 1
  • O. F. Medvedeva
    • 1
  • K. V. Simonova
    • 1
  • I. Yu. Khitrinskaya
    • 1
  • V. A. Stepanov
    • 1
  1. 1.Institute of Medical GeneticsSiberian Branch of the Russian Academy of Medical SciencesTomskRussia

Personalised recommendations