Russian Journal of Genetics

, Volume 38, Issue 9, pp 1098–1103 | Cite as

Origin of Caucasoid-Specific Mitochondrial DNA Lineages in the Ethnic Groups of the Altai–Sayan Region

  • M. V. Derenko
  • B. A. Malyarchuk
  • I. A. Zakharov


The data on sequence variation in the first hypervariable segment (HVSI) of human mitochondrial DNA (mtDNA) representing Caucasoid mtDNA lineages in the gene pools of Altaians and Khakassians are presented. Identification of the subgroups of Caucasoid mtDNA lineages found in the gene pools of the ethnic groups of the Altai–Sayan region and the adjacent territories, Altaians, Khakassians, Tuvinians, Buryats, and Yakuts was carried out. All Caucasoid mtDNA lineages belonged to groups H, HV1, J*, J1, J1b1, T1, T4, U1a, U2, U3, U4, U5a1, I, X and N1a. Taking into consideration possible contribution of southern Caucasoid and eastern European components to the formation of the anthropological type of Altai–Sayan ethnic groups, distribution of the revealed Caucasoid mtDNA lineages among the ethnic groups of the Central Asia, Western Asia, Caucasus, and Eastern Europe was examined. The applied approach permitted identification of 60% of mtDNA types the majority of which had southern Caucasoid origin. Less than 10% of mtDNA types were of eastern European origin. The gene pools of Altaians and Khakassians displayed the presence of autochthonous components represented by mtDNA types from subgroups U2 and U4.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Alekseev, V.P. and Gokhman, I.I., Anthropology of the Asian Part of the USSR, Moscow: Nauka, 1984.Google Scholar
  2. 2.
    Alekseev, V.P., Istoricheskaya antropologiya i antropo-genez (Historical Anthropology and Anthropogenesis), Moscow: Nauka, 1989.Google Scholar
  3. 3.
    Antropo-ekologicheskie issledovaniya v Tuve (Anthropo-Ecological Studies in Tuva), Alekseeva, T.I. and Ury-son, M.I., Eds., Moscow: Nauka, 1984.Google Scholar
  4. 4.
    Derenko, M.V., Denisova, G.A., Malyarchuk, B.A., et al., The Gene Pool Structure of Ethnic Groups of the Altai-Sayan Highlands as Inferred from the Data on Mitochondrial DNA Polymorphism, Genetika (Moscow), 2001, vol. 37, no. 10, pp. 1402-1410.Google Scholar
  5. 5.
    Derenko, M.V., Malyarchuk, B.A., Denisova, G.A., et al., Polymorphism of Y-Chromosomal Diallelic Loci in the Indigenous Population of the Altai-Sayan High-lands, Genetika (Moscow), 2002, vol. 38, no. 3, pp. 393-399.Google Scholar
  6. 6.
    Derenko, M.V., Malyarchuk, B.A., Dambueva, I.K., et al., Mitochondrial DNA Variation in Two South Siberian Aboriginal Populations: Implications for the Genetic History of NorthAsia, Hum. Biol., 2000, vol. 72, pp. 945-973.Google Scholar
  7. 7.
    Anderson, S., Bankier, A.T., Barrel, B.G., et al., Sequence and Organization of the Human Mitochondrial Genome, Nature 1981, vol. 290, pp. 457-465.Google Scholar
  8. 8.
    Derenko, M.V. and Shields, J.F., Nucleotide Sequence Diversity of Mitochondrial DNA in Three Groups of the Indigenous Population of Northern Asia, Mol. Biol. (Moscow), 1997, vol. 31, no. 5, pp. 784-789.Google Scholar
  9. 9.
    Simoni, L., Calafell, F., Pettener, D., et al., Geographic Patterns of mtDNA Diversity in Europe, Am. J. Hum. Genet., 2000, vol. 66, pp. 262-278.Google Scholar
  10. 10.
    Richards, M., Macaulay, V., Hickey, E., et al., Tracing European Founder Lineages in the Near Eastern. mtDNA Pool, Am. J. Hum. Genet., 2000, vol. 67, pp. 1251-1276.Google Scholar
  11. 11.
    Malyarchuk, B.A. and Derenko, M.V., Mitochondrial DNA Variability in Russians and Ukrainians: Implication to the Origin of the Eastern Slavs, Ann. Hum. Genet., 2001, vol. 65, pp. 63-78.Google Scholar
  12. 12.
    Kolman, C.J., Sambuughin, N., and Bermingham, E., Mitochondrial DNA Analysis of Mongolian Populations and Implications for the Origin of New World Founders, Genetics 1996, vol. 142, pp. 1321-1337.Google Scholar
  13. 13.
    Horai, S., Murayama, K., Hayasaka, K., et al., mtDNA Polymorphism in East Asian Populations, with Special Reference to the Peopling of Japan, Am. J. Hum. Genet., 1996, vol. 59, pp. 579-590.Google Scholar
  14. 14.
    Kivisild, T., Kaldma, K., Metspalu, E., et al., The Place of the Indian Mitochondrial DNA Variants in the Global Network of Maternal Lineages and the Peopling of the Old World, Genomic Diversity: Applications in Human Population Genetics, Papiha, S., Deka, R., and Chakraborty, R., Eds., New York: Kluwer Academic, 1999, pp. 135-152.Google Scholar
  15. 15.
    Shields, G.F., Schmiechen, A.M., Frazier, B.L., et al., mtDNA Sequences Suggest a Recent Evolutionary Divergence for Beringian and Northern North American Populations, Am. J. Hum. Genet., 1993, vol. 53, pp. 549-562.Google Scholar
  16. 16.
    Macaulay, V., Richards, M., Hickey, E., et al., The Emerging Tree of West Eurasian mtDNAs: A Synthesis of Control-Region Sequences and RFLPs, Am. J. Hum. Genet., 1999, vol. 64, pp. 232-249.Google Scholar

Copyright information

© MAIK “Nauka/Interperiodica” 2002

Authors and Affiliations

  • M. V. Derenko
    • 1
  • B. A. Malyarchuk
    • 1
  • I. A. Zakharov
    • 2
  1. 1.Institute of Biological Problems of the NorthRussian Academy of SciencesMagadanRussia
  2. 2.Vavilov Institute of General GeneticsRussian Academy of SciencesMoscowRussia

Personalised recommendations