Advertisement

Russian Journal of Genetics

, Volume 55, Issue 1, pp 114–123 | Cite as

Genetic Characterization of Balkars and Karachays Using mtDNA Data

  • M. A. DzhaubermezovEmail author
  • N. V. Ekomasova
  • M. Reidla
  • S. S. Litvinov
  • L. R. Gabidullina
  • R. Villems
  • E. K. Khusnutdinova
HUMAN GENETICS
  • 4 Downloads

Abstract

To determine mtDNA haplogroups in the populations of Balkars (N = 235) and Karachays (N = 123), the nucleotide sequence of the hypervariable segment 1 (HVS1) and polymorphism of 20 markers of the coding region of mtDNA were analyzed. As a result of the research, 41 mtDNA haplogroups in Balkars and 33 haplogroups in Karachays were found. For the first time, the frequency distribution of mtDNA haplogroups in Balkars based on their origin to different subethnic groups (Baksans, Chegems, Kholams, Bezengivians, and Malkars) was studied. It was shown that the main mtDNA pool in the studied populations was represented by West Eurasian haplogroups. The frequencies of East Eurasian haplogroups were 10.2 and 8.9% in Balkars and Karachays, respectively. The highest value of the genetic diversity level in the studied populations was observed in Bezengivians (0.9858). The principal component analysis showed the remoteness of Baksans with respect to the first principal component from the other subethnic groups of Balkars.

Keywords:

Balkars Karachays subethnos mitochondrial DNA haplogroup haplotype East Eurasian lineages West Eurasian lineages 

Notes

REFERENCES

  1. 1.
    Baskakov, N.A., Istoriko-tipologicheskaya fonologiya tyurkskikh yazykov (Historical and Typological Phonology of Turkic Languages), Moscow: Nauka, 1988.Google Scholar
  2. 2.
    Materialy nauchnoi sessii po probleme proiskhozhdeniya balkarskogo i karachaevskogo narodov (Materials of the Scientific Session on the Problem of the Balkar and Karachay Peoples’ Origin), Nalchik: Kabardino-Balkarskoe Knizhnoe Izd., 1960.Google Scholar
  3. 3.
    Karachaevtsy. Balkartsy (Karachays. Balkars), Karaketov, M.D. and Sabanchiev, Kh.-M.A., Eds., Moscow: Nauka, 2014.Google Scholar
  4. 4.
    Dzhanberidze, G.K., On the origin of Balkars and Karachays, in Materials of the Scientific Session on the Problem of the Balkar and Karachay Peoples’ Origin, Nalchik, 1960.Google Scholar
  5. 5.
    Alekseev, V.P., Proiskhozhdenie narodov Kavkaza: kraniologicheskoe issledovanie (The Origin of the Caucasus Peoples: Craniological Research), Moscow: Nauka, 1974.Google Scholar
  6. 6.
    http://www.statdata.ru.Google Scholar
  7. 7.
    Berzhe, A., Kratkii obzor gorskikh plemen na Kavkaze (Brief Overview of the Mountain Tribes in the Caucasus), Nalchik, 1992.Google Scholar
  8. 8.
    Appaev, A.M., Dialekty balkarskogo yazyka v ikh otnoshenii k balkarskomu literaturnomu yazyku (Dialects of the Balkarian Language in Their Relation to the Balkarian Literary Language), Nalchik: Kabardino-Balkarskoe Knizhnoe Izd., 1960.Google Scholar
  9. 9.
    Filonenko, V.I., Zagadki gortsev Severnogo Kavkaza: uchenye zapiski (Enigmas of the Mountaineers of the North Caucasus: Scientific Notes), Pyatigorsk, 1957.Google Scholar
  10. 10.
    Filonenko, V.I., Grammatika balkarskogo yazyka: fonetika i morfologiya (Grammar of the Balkar Language: Phonetics and Morphology), Nalchik: Kabardino-Balkarskoe Knizhnoe Izd., 1940.Google Scholar
  11. 11.
    Akbaev, Sh.Kh., Fonetika dialektov Karachaevo-Balkarskogo yazyka (Opyt sravnitel’nogo i sravnitel’no-istoricheskogo izucheniya) (Phonetics of the Karachay-Balkarian Dialects (Experience of Comparative and Comparative Historical Study)), Karachaevo-Cherkesskoe Knizhnoe Izd., 1963.Google Scholar
  12. 12.
    Prele, V., Balkar etudes: 1, Vost. Obozr., 1914—1915, vol. 15, Balkar etudes: 2, Vost. Obozr., 1915—1916, vol. 16.Google Scholar
  13. 13.
    Tul’chinskii, N.P., Pyat’ gorskikh obshchestv Kabardy (Five Mountain Societies of Kabarda), Vladikavkaz: Tipografiya Terskogo Oblastnogo Pravleniya, 1903.Google Scholar
  14. 14.
    Maslov, Yu.S., Vvedenie v yazykoznanie (Introduction to Linguistics), Moscow: Vysshaya Shkola, 1987.Google Scholar
  15. 15.
    Bulayeva, K., Jorde, L., Ostler, C., et al., Genetics and population history of Caucasus populations, Hum. Biol., 2003, vol. 75, no. 6, pp. 837—853.CrossRefGoogle Scholar
  16. 16.
    Roostalu, U., Kutuev, I., Loogvali, E.-L., et al., Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian Perspective, Mol. Biol. Evol., 2007, vol. 24, no. 2, pp. 436—448.  https://doi.org/10.1093/molbev/msl173 CrossRefGoogle Scholar
  17. 17.
    Kutuev, I.A. and Khusnutdinova, E.K., Geneticheskaya struktura i molekulyarnaya filogeografiya narodov Evrazii (Genetic Structure and Molecular Phylogeography of the Eurasia Peoples), Ufa: Gilem, 2011.Google Scholar
  18. 18.
    Kutuev, I.A., Bogotova, Z.I., Khusainova, R.I., et al., The study of mtDNA lineages in populations of Kabardians and Balkars, Med. Genet., 2009, no. 11, pp. 10—15.Google Scholar
  19. 19.
    Yunusbayev, B., Metspalu, M., Jarve, M., et al., The Caucasus as an asymmetric semipermeable barrier to ancient human migrations, Mol. Biol. Evol., 2012, vol. 29, no. 1, pp. 359—365.  https://doi.org/10.1093/molbev/msr221 CrossRefGoogle Scholar
  20. 20.
    Khusnutdinova, E.K., Litvinov, S.S., Kutuev, I.A., et al., Gene pool of ethnic groups of the Caucasus: results of integrated study of the Y chromosome and mitochondrial DNA and genome-wide data, Russ. J. Genet., 2012, vol. 48, no. 6, pp. 640—650.  https://doi.org/10.1134/S1022795412060063.CrossRefGoogle Scholar
  21. 21.
    Torroni, A., Rengo, C., Guida, V., et al., Do the four clades of the mtDNA haplogroup L2 evolve at different rates?, Am. J. Hum. Genet., 2001, vol. 69, no. 6, pp. 1348—1356.CrossRefGoogle Scholar
  22. 22.
    Mathew, C.G., The isolation of high molecular weight eukaryotic DNA, Methods Mol. Biol., 1985, vol. 2, pp. 31—34.Google Scholar
  23. 23.
    Slatkin, M.A., Measure of population subdivision based on microsatelite allele frequencies, Genetics, 1995, vol. 139, pp. 457—462.Google Scholar
  24. 24.
    Schneider, S., Roessli, D., and Excoffier, L., Arlequin version 2.000: A Software for Population Genetics Data Analysis, Geneva: Univ. Geneva, 2000.Google Scholar
  25. 25.
    http://www.xlstat.com.Google Scholar
  26. 26.
    Kereitov, R.Kh., Etnicheskaya istoriya nogaitsev (k probleme etnogeneticheskikh svyazei nogaitsev) (Ethnic History of Nogais (To the Problem of Ethnogenetic Relations of Nogais)), Stavropol’, 1999.Google Scholar
  27. 27.
    Comas, D., Plaza, S., Wells, R., et al., Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages, Eur. J. Hum. Genet., 2004, vol. 12, pp. 495—504.  https://doi.org/10.1038/sj.ejhg.5201160 CrossRefGoogle Scholar
  28. 28.
    Schurr, T.G., Sukernik, R.I., Starikovskaya, Y.B., et al., Mitochondrial DNA variation in Koryaks and Itel’men: population replacement in the Okhotsk Sea—Bering Sea region during the Neolithic, Am. J. Phys. Anthropol., 1999, vol. 108. № 1, pp. 1—39.  https://doi.org/10.1002/(SICI)1096-8644(199901)108:1<1::AID-AJPA1>3.0.CO;2-1 CrossRefGoogle Scholar
  29. 29.
    Derenko, M., Malyarchuk, B., Grzybowski, T., et al., Phylogeographic analysis of mitochondrial DNA in northern Asian Populations, Am. J. Hum. Genet., 2007, vol. 81, no. 5, pp. 1025—1041.  https://doi.org/10.1086/522933 CrossRefGoogle Scholar
  30. 30.
    Trofimova, N.V., Mitochondrial DNA and Y-chromosome variation in populations of the Volga—Ural region, Cand. Sci. (Biol.) Dissertation, Ufa: Inst. Biochem. Genet. Ufa Sci. Centre Ross. Acad. Sci., 2015.Google Scholar
  31. 31.
    Yunusbayev, B., Metspalu, M. Metspalu, E., et al., The genetic legacy of the expansion of Turkic-speaking nomads across Eurasia, PLoS Genet., 2015, vol. 11, no. 14.  https://doi.org/10.1371/journal.pgen.1005068
  32. 32.
    Pala, M., Olivieri, A., Achilli, A., et al., Mitochondrial DNA signals of late glacial recolonization of Europe from Near Eastern refugia, Am. J. Hum. Genet., 2012, vol. 90, no. 5, pp. 915—924.  https://doi.org/10.1016/j.ajhg.2012.04.003 CrossRefGoogle Scholar
  33. 33.
    Fernandes, V., Alshamali, F., Alves, M., et al., The Arabian cradle: mitochondrial relicts of the first steps along the southern route out of Africa, Am. J. Hum. Genet., 2012, vol. 90, no. 2, pp. 347—355.  https://doi.org/10.1016/j.ajhg.2011.12.010 CrossRefGoogle Scholar
  34. 34.
    Derenko, M., Malyarchuk, B., Bahmanimehr, A., et al., Complete mitochondrial DNA diversity in Iranians, PLoS One, 2013, vol. 8, no. 11. e80673.  https://doi.org/10.1371/journal.pone.0080673 CrossRefGoogle Scholar
  35. 35.
    Cristofaro, J.D., Pennarun, E., Mazieres, S., et al., Afghan Hindu Kush: where Eurasian sub-continent gene flows, PLoS One, 2013, vol. 8, no. 10. e76748.  https://doi.org/10.1371/journal.pone.0076748 CrossRefGoogle Scholar
  36. 36.
    Pliss, L., Tambets, K., Loogvali, E., et al., Mitochondrial DNA portrait of Latvians: towards the understanding of the genetic structure of Baltic-speaking populations, Ann. Hum. Genet., 2006, vol. 70, no. 4, pp. 439—458.  https://doi.org/10.1111/j.1469-1809.2005.00238.x CrossRefGoogle Scholar
  37. 37.
    Kushniarevich, A., Sivitskaya, L., Danilenko, N., et al., Uniparental genetic heritage of Belarusians: encounter of rare middle eastern matrilineages with a central European mitochondrial DNA pool, PLoS One, 2013, vol. 8, no. 6. e66499  https://doi.org/10.1371/journal.pone.0066499 CrossRefGoogle Scholar
  38. 38.
    Pankratov, V., Litvinov, S., Kassian, A., et al., East Eurasian ancestry in the middle of Europe: genetic footprints of steppe nomads in the genomes of Belarusian Lipka Tatars, Sci. Rep., 2016, vol. 6.  https://doi.org/10.1038/srep30197
  39. 39.
    Yartseva, V.N., Lingvisticheskii entsiklopedicheskii slovar’ (Linguistic Encyclopedic Dictionary), Moscow: Sovetskaya Entsiklopediya, 1990.Google Scholar
  40. 40.
    Yardumian, A., Shengelia, R., Chitanava, D., et al., Genetic diversity in Svaneti and its implications for the human settlement of the Highland Caucasus, Am. J. Phys. Anthropol., 2017, vol. 164, no. 4, pp. 837—852.  https://doi.org/10.1002/ajpa.23324 CrossRefGoogle Scholar
  41. 41.
    Wilde, S., Timpson, A., Kirsanow, K., et al., Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5000 y, Proc. Natl. Acad. Sci. U.S.A., 2014, vol. 111, no. 13, pp. 4832—4837.  https://doi.org/10.1073/pnas.1316513111 CrossRefGoogle Scholar
  42. 42.
    Haak, W., Lazaridis, I., Patterson, N., et al., Massive migration from the steppe was a source for Indo-European languages in Europe, Nature, 2015, vol. 522, no. 7555.  https://doi.org/10.1038/nature14317
  43. 43.
    Verena, J., Peltzer, A., Welte, B., et al., Ancient Egyptian mummy genomes suggest an increase of Sub-Saharan African ancestry in post-Roman periods, Nat. Commun., 2017, vol. 8.  https://doi.org/10.1038/ncomms15694
  44. 44.
    Reidla, M., Kivisild, T., Metspalu, E., et al., Origin and diffusion of mtDNA haplogroup X, Am. J. Hum. Genet., 2003, vol. 73, no. 5, pp. 1178—1190.  https://doi.org/10.1086/379380 CrossRefGoogle Scholar
  45. 45.
    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.CrossRefGoogle Scholar
  46. 46.
    Derenko, M., Malyarchuk, B., Bahmanimehr, A., et al., Complete mitochondrial DNA diversity in Iranians, PLoS One, 2013, vol. 8, no. 11.  https://doi.org/10.1371/journal.pone.0080673
  47. 47.
    Fu, Y., Statistical tests of neutrality of mutations against population growth, hitchhiking and backgroud selection, Genetics, 1997, vol. 147, pp. 915—925.Google Scholar
  48. 48.
    Tajima, F., Statistical method for testing the neutral mutation hypothesis by DNA polymorphism, Genetics, 1989, vol. 123, pp. 585—595.Google Scholar
  49. 49.
    Dzhaubermezov, M.A., Ekomasova, N.V., Litvinov, S.S., et al., Genetic characterization of Balkars and Karachays according to the variability of the Y chromosome, Russ. J. Genet., 2017, vol. 53, no. 10, pp. 1152—1158.  https://doi.org/10.1134/S1022795417100039.CrossRefGoogle Scholar
  50. 50.
    Kipkeeva, Z.B., Severnyi Kavkaz v Rossiiskoi imperii: narody, migratsii, territorii (The North Caucasus in the Russian Empire: Peoples, Migrations, Territories), Stavropol’: Stavropol’ Gos. Univ., 2008.Google Scholar

Copyright information

© Pleiades Publishing, Inc. 2019

Authors and Affiliations

  • M. A. Dzhaubermezov
    • 1
    Email author
  • N. V. Ekomasova
    • 1
  • M. Reidla
    • 2
  • S. S. Litvinov
    • 3
  • L. R. Gabidullina
    • 1
  • R. Villems
    • 2
    • 4
  • E. K. Khusnutdinova
    • 1
    • 3
  1. 1.Department of Genetics and Fundamental Medicine, Bashkir State UniversityUfaRussia
  2. 2.Institute of Genomics, University of TartuTartuEstonia
  3. 3.Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of SciencesUfaRussia
  4. 4.Estonian Academy of SciencesTallinnEstonia

Personalised recommendations