Genetic variation in the enigmatic Altaian Kazakhs of South‐Central Russia: Insights into Turkic population history

Abstract

The Altaian Kazakhs, a Turkic speaking group, now reside in the southern part of the Altai Republic in south-central Russia. According to historical accounts, they are one of several ethnic and geographical subdivisions of the Kazakh nomadic group that migrated from China and Western Mongolia into the Altai region during the 19th Century. However, their population history of the Altaian Kazakhs and the genetic relationships with other Kazakh groups and neighboring Turkic-speaking populations is not well understood. To begin elucidating their genetic history, we analyzed the mtDNAs from 237 Altaian Kazakhs through a combination of SNP analysis and HVS1 sequencing. This analysis revealed that their mtDNA gene pool was comprised of roughly equal proportions of East (A-G, M7, M13, Y and Z) and West (H, HV, pre-HV, R, IK, JT, X, U) Eurasian haplogroups, with the haplotypic diversity within haplogroups C, D, H, and U being particularly high. This pattern of diversity likely reflects the complex interactions of the Kazakhs with other Turkic groups, Mongolians, and indigenous Altaians. Overall, these data have important implications for Kazakh population history, the genetic prehistory of the Altai-Sayan region, and the phylogeography of major mitochondrial lineages in Eurasia.

7. The Prehistory of Mongolian Populations as Revealed by Studies of Osteological, Dental, and Genetic Variation

“…However, the overall patterns of haplotype diversity in these groups vary considerably, based on their local histories. These findings imply that most contemporary Turkic and Mongolic ethnic groups emerged from a common mtDNA pool that was widely distributed in Central and East Asia (Gokcumen et al 2008). This interpretation is supported by the statistical analysis of mtDNA sequence diversity in which Mongol, Kazakh, Kirghiz, and Uighur populations cluster together (Fig.…”

“…The moderate frequencies and diversity of West Eurasian mtDNA lineages within the populations of southern Siberia and Mongolia (Derenko et al 2002(Derenko et al , 2003Yao et al 2002;Comas et al 2004;Gokcumen et al 2008) support the early penetration of ancient European steppe cultures into this region during the Neolithic, Bronze Age, and early Iron Age. The genetic results are consistent with physical anthropological data from the Pre-Scythian Period that show the presence of crania with "Caucasoid" and mixed "CaucasoidMongoloid" features in the south Siberian steppe and Western Mongolia (Alekseev and Gohman 1984;Alekseev, Gohman, and Tumen 1987;Bruyako and Ostroverkhov 2004;Thornton and Schurr 2004).…”

“…By contrast, the West Eurasian haplogroups are much more common in populations inhabiting regions to the west of Mongolia (Comas et al 1998(Comas et al , 2004Quintana-Murci et al 2004;Gokcumen et al 2008). All of these maternal lineages probably originated in Central or West Asia (Torroni et al 1996(Torroni et al , 1998Macaulay et al 1999;Richards et al 2000;Capelli et al 2003) prior to their being brought to East Asia by Neolithic steppe populations some 5,000 years ago (Golden 1992;Hiebert 1994;Frachetti 2002;Renfrew 2002;Thornton and Schurr 2004;Anthony 2007).…”

“…Subsequent studies have provided much more detail about the mtDNA composition of Mongol populations from Xinjiang, Mongolia, and Inner Mongolia, as well as a tentative picture of diversity in other ethnic groups in Mongolia (Kong et al 2003;Yao et al 2004;Gokcumen et al 2008;Pipes, Labuda, and Schurr 2008). All of them have generally shown that the haplogroup distribution in Mongolians consists of mostly East Eurasian lineages (A, B, C, D, F, G, M7, M8, M9, N9a, Y, Z), with a low to modest frequency (4-20 percent) of West Eurasian lineages (H, J, T, U, and W) ( Fig.…”

“…7.9; see DVD). Most of the East Eurasian haplogroups are observed in indigenous Siberian and NEAS populations (Torroni et al 1993(Torroni et al , 1994Starikovskaya et al 1998Starikovskaya et al , 2005Schurr et al 1999;Derbeneva et al 2002a,b;Derenko et al 2002Derenko et al , 2003Derenko et al , 2004Pakendorf et al 2003;Schurr and Wallace 2003;Gokcumen et al 2008), while M7 haplotypes are much more common in Chinese, Japanese, and Korean populations (Yao et al 2002;Kivisild et al 2002;Tanaka et al 2004;Lee at al. 2006).…”