Abstract
The structure of Khakass gene pool has been investigated: Y-chromosome haplogroup compositions and frequencies were described in seven population samples of two basic subethnic groups, Sagai and Kachins, from three geographically separated regions of the Khakass Republic. Eight haplogroups were detected in the Khakass gene pool: C3, E, N*, N1b, N1c, R1a1a, and R1b1b1. The haplogroup spectra and the genetic diversity by haplogroups and YSTR haplotypes differed significantly between Sagai and Kachins. Kachins had a low level of gene diversity, whereas the diversity of Sagai was similar to that of other South-Siberian ethnic groups. Sagai samples from the Askizskii district were very similar to each other, and so were two Kachin samples from the Shirinskii district, while Sagai samples from the Tashtypskii district differed considerably from each other. The contribution of intergroup differences among ethnic groups was high, indicating significant genetic differentiation among native populations in Khakassia. The Khakass gene pool was strongly differentiated both by haplogroup frequencies and by YSTR haplotypes within the N1b haplogroup. The frequencies of YSTR haplotypes within the chromosome Y haplogroups N1b, N1c, and R1a1 were determined and their molecular phylogeny was investigated. Factor and cluster analysis, as well as AMOVA, suggest that the Khakass gene pool is structured by territory and subethnic groups.
Similar content being viewed by others
References
Tyurkskie narody Sibiri (Turkic Peoples of Siberia). 2006. Eds. Funk D.A., Tomilov N.A. Moscow: Nauka.
Alekseev V.P. 1989. Istoricheskaya antropologiya i antropogenez (Historical Anthropology and Anthropogenesis). Moscow: Nauka.
Baskakov N.A., 1969. Vvedenie v izuchenie tyurkskikh yazykov (Introduction to the Study of Turkic Languages). Moscow: Vysshaya Shkola.
Alekseev V.P., Gokhman I.I. 1984. Antropologiya aziatskoi chasti SSSR (Anthropology of the Asian Part of the Soviet Union). Moscow: Nauka.
Stepanov V.A., Puzyrev V.P. 2000. Y-Chromosome microsatellite haplotypes demonstrate absence of subdivision and presence of several components in the Tuvinian male gene pool. Russ. J. Genet. 36, 298–304.
Kharkov V.N., Stepanov V.A., Medvedeva O.F., Spiridonova M.G., Voevoda M.I., Tadinova V.N., Puzyrev V.P. 2007. Gene pool differences between Northern and Southern Altaians inferred from the data on Y-chromosomal haplogroups. Russ. J. Genet. 43, 551–562.
Kharkov V.N., Medvedeva O.F., Luzina F.A., Kolbasko A.V., Gafarov N.I., Puzyrev V.P., Stepanov V.A. 2009. Comparative characteristics of the gene pool of teleuts inferred from Y-chromosomal marker data. Russ. J. Genet. 45, 994–1003.
Puzyrev V.P., Stepanov V.A., Golubenko M.V., Puzyrev K.V., Maximova N.R., Kharkov V.N., Spiridonova M.G., Nogovitsina A.N. 2003. MtDNA and Y-chromosome lineages in the Yakut population. Russ. J. Genet. 39, 816–822.
Stepanov V.A., Puzyrev V.P., Spiridonova M.G. Khitrinskaya I.Y. 1999. Analysis of the Alu insertion polymorphism in urban and rural Russian populations of Siberia. Russ. J. Genet. 35, 979–983.
Derenko M.V., Malyarchuk B.A., Denisova G.A., et al. 2006. Contrasting patterns of Y-chromosome variation in South Siberian populations from Baikal and Altai-Sayan regions. Hum. Genet. 118, 591–604.
Rootsi S., Zhivotovsky L.A., Baldovi M., et al. 2007. A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe. Eur. J. Hum. Genet. 15, 204–211.
Derenko M., Malyarchuk B., Denisova G., et al. 2007. Y-Chromosome haplogroup N dispersals from south Siberia to Europe. J. Hum. Genet. 52, 763–770.
Karafet T.M., Mendez F.L., Meilerman M.B., et al. 2008. New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res. 18, 830–838.
Kharkov V.N., Stepanov V.A., Borinskaya S.A., Kozhekbaeva Zh.M., Gusar V.A., Grechanina E.Ya., Puzyrev V.P., Khusnutdinova E.K., Yankovsky N.K. 2004. Gene pool structure of Eastern Ukrainians as inferred from the Y-chromosome haplogroups. Russ. J. Genet. 40, 326–331.
Kharkov V.N., Stepanov V.A., Feshchenko S.R., Borinskaya S.A., Yankovsky N.K., Puzyrev V.P. 2005. Frequencies of Y chromosome binary haplogroups in Belarussians. Russ. J. Genet. 41, 928–931.
Kharkov V.N., Stepanov V.A., Medvedeva O.F., Spiridonova M.G., Maksimova N.R., Nogovitsina A.N., Puzyrev V.P. 2008. The origin of Yakuts: Analysis of the Y-chromosome haplotypes. Mol. Biol. (Moscow). 42, 198–208.
Varzari A., Kharkov V., Stephan W. et al. 2009. Searching for the origin of Gagauzes: Inferences from Y-chromosome analysis. Am. J. Hum. Biol. 21, pp. 326–336.
Stepanov V.A., Puzyrev V.P. 2000. Analysis of the allele frequencies of seven Y-chromosome microsatellite loci in three tuvinian populations. Russ. J. Genet. 36, 179–185.
Butler J.M., Schoske R., Vallone P.M., Kline M.C., Redd A.J., Hammer M.F. 2002. A novel multiplex for simultaneous amplification of 20 Y chromosome STR markers. Forensic Sci. Int. 129, 10–24.
Ayub Q., Mohyuddin A., Qamar R., et al. 2000. Identification and characterisation of novel human Y-chromosomal microsatellites from sequence database information. Nucleic Acids Res. 28, e8.
Nei M. 1987. Molecular Evolutionary Genetics. NY: Columbia Univ. Press.
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.
Excoffier L., Laval G., Schneider S. 2005. Arlequin ver. 3.0: An integrated software package for population genetics data analysis. Evol. Bioinform. Online. 1, 47–50.
Bandelt H.-J., Forster P., Rohl A. 1999. Median-joining networks for inferring intraspecific phylogenies. Mol. Biol. Evol. 16, 37–48.
Bandelt H.-J., Forster P., Sykes B.C., Richards M.B. 1995. Mitochondrial portraits of human populations using median networks. Genetics. 141, 743–753.
Saitou N., Nei M. 1987. The neighbour-joining method: A new method for reconstructing phylogenetic trees. Mol. Biol. Evol. 4, 406–425.
Felsenstein J. 1993. PHYLIP, version 3.5. Seattle, WA: Univ. of Washington Press.
Huson D.H., Richter D.C., Rausch C., Dezulian T., Franz M., Rupp R. 2007. Dendroscope: An interactive viewer for large phylogenetic trees. BMC Bioinform. 8, 460.
Karafet T.M., Osipova L.P., Gubina M.A., et al. 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, 761–789.
Tambets K., Rootsi S., Kivisild T., et al. 2004. The western and eastern roots of the Saami: The story of genetic “outliers” told by mitochondrial DNA and Y-chromosomes. Am. J. Hum. Genet. 74, 661–682.
Underhill P.A., Myres N.M., Rootsi S. 2009. Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a. Eur. J. Hum. Genet.; http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/ejhg2009194a.html.
Seielstad M., Yuldasheva N., Singh N., et al. 2003. A novel Y-chromosome variant puts an upper limit on the timing of first entry into the Americas. Am. J. Hum. Genet. 73, 700–705.
Zegura S.L., Karafet T.M., Zhivotovsky L.A., et al. 2004. High-resolution SNPs and microsatellite haplotypes point to a single, recent entry of native american Y-chromosomes into the Americas. Mol. Biol. Evol. 21, 164–175.
Zerjal T., Xue Y., Bertorelle G., et al. 2003. The genetic legacy of the Mongols. Am. J. Hum. Genet. 72, 717–721.
Qamar R., Ayub Q., Mohyuddin A. et al. 2002. Y-chromosomal DNA variation in Pakistan. Am. J. Hum. Genet. 70, 1107–1124.
Lobov A.S. 2009. Gene pool structure in subpopulations of Bashkirs, Extended Abstract of Cand. Sc. (Biol). Dissertation, Ufa; http://ftp.anrb.ru/molgen/Lobov-AS.PDF.
Cinnioglu C., King R., Kivisild T., et al. 2004. Excavating Y-chromosome haplotype strata in Anatolia. Hum. Genet. 114, 127–148.
Potapov L.P. 1957. Proiskhozhdenie i formirovanie khakasskoi narodnosti (Origin and Formation of the Khakass Nation), Abakan: Khakass. Knizhn. Izd.
Keyser C., Bouakaze C., Crubezy E., et al. 2009. Ancient DNA provides new insights into the history of south Siberian Kurgan people. Hum. Genet. 126, 395–410.
Author information
Authors and Affiliations
Corresponding author
Additional information
Original Russian Text © V.N. Khar’kov, K.V. Khamina, O.F. Medvedeva, O.V. Shtygasheva, V.A. Stepanov, 2011, published in Molekulyarnaya Biologiya, 2011, Vol. 45, No. 3, pp. 446–458.
Rights and permissions
About this article
Cite this article
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 45, 404–416 (2011). https://doi.org/10.1134/S0026893311020117
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1134/S0026893311020117