Gene pool differences between Northern and Southern Altaians inferred from the data on Y-chromosomal haplogroups V. N. Kharkov V. A. Stepanov O. F. Medvedeva M. G. Spiridonova M. I. Voevoda V. N. Tadinova V. P. Puzyrev 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.
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.
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.
Google Scholar 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.
Google Scholar 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.
Google Scholar 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.
CrossRef Google Scholar 11.
Rychkov, Yu.G., Serologic Differentiation in Population of Siberia,
Vopr. Antropol. , 1965, no. 21, p. 18.
Google Scholar 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.
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.
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.
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.
Google Scholar 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.
CrossRef 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.
PubMed CrossRef 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.
CrossRef 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.
CrossRef 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.
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.
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.
CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
Google Scholar 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.
CrossRef 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.
CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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 Google Scholar 41.
Schneider, S., Roessli, D., and Excoffier, L.,
Arlequin, Version 2000: A Software for Population Genetics Data Analysis , 2000.
Google Scholar 42.
Minch, E., Ruiz-Linares, A., and Goldstein, D.,
Microsat, Version 1.5d , Stanford Univ., 1998.
Google Scholar 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 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 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.
PubMed CrossRef 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 Google Scholar 47.
Felsenstein, J.,
PHYLIP, Version 3.5 , Seattle Univ., 1993.
Google Scholar 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
PubMed CrossRef 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.
CrossRef 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.
CrossRef Google Scholar © Pleiades Publishing, Inc. 2007
Authors and Affiliations V. N. Kharkov V. A. Stepanov O. F. Medvedeva M. G. Spiridonova M. I. Voevoda V. N. Tadinova V. P. Puzyrev 1. Institute of Medical Genetics, Tomsk Scientific Center Russian Academy of Medical Sciences Tomsk Russia 2. Institute of Internal Medicine Russian Academy of Medical Sciences Novosibirsk Russia 3. Institute of Cytology and Genetics Russian Academy of Sciences Novosibirsk Russia 4. Republican Children Hospital Gorno-Altaisk Russia