Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies

Abstract

Gene frequencies of eight Siberian populations (Mansi, Tuva, Todja, Tofalar, Buryat, Okhotsk Evenki, Ulchi, and Negidal) were determined for the three most polymorphic HLA class II loci ( DRB1, DQA1, and DQB1) by a combination of single-stranded conformational polymorphism typing and DNA sequencing. The number of alleles per population ranged from 16 to 25, from seven to eight, and from nine to 14 for the DRB1, DQA1, and DQB1 loci, respectively. The alleles at the three loci occurred in 66 different combinations (haplotypes), most of which appeared to be of ancient origin, but some may have arisen within the Siberian populations. Phylogenetic analysis of the frequency data suggests that the HLA genes of Asian and indigenous American populations stem from a single pool distinct from the gene pools of European and African populations. The Asian populations separate into two clusters, one of which encompasses nearly all the Siberian populations and all the indigenous American populations tested, while the other consists of Central, Eastern, and Southeastern Asian populations. The position of the Tuva people appears to be near the node from which the two clusters diverge. The divergence time of the two clusters is estimated to be 21,000-24,000 years BP. Three different branches of the native Siberian peoples seem to have contributed founders for the indigenous American ethnic groups.

Ancestry and kinships of native Siberian populations: The HLA evidence

“…The alleles at these three loci (HLA-DRB1, -DQA1, and DQB1) and the combinations (haplotypes) in which they occur on individual chromosomes have been shown to differentiate human populations in terms of allele frequencies. 23,35 By converting the differences in frequencies to genetic distances and evaluating these by proper statistical methods (Box 4), it is possible to quantitate the genetic relationships among populations and construct a model (a population tree) of their likely evolution from ancestral populations. It is the extraordinary variMost, if not all, of the HLA-DRB1 alleles now found in the Siberian populations must have been present in the ancestral population of H. sapiens before it spread onto the different continents.…”

“…Each of the Siberian ethnic groups typically contains 20 to 30 different HLA-DQB1-DQA1-DRB1 haplotypes, while the total number of these haplotypes in all the groups combined is Ͼ60. [22][23][24] About half a dozen of the haplotypes are widely shared not only by Siberian, but also non-Siberian populations. These haplotypes, like the widely shared alleles, may have arisen before the dispersion of the human species onto the different continents, perhaps in Africa.…”

“…of alleles shared by the different populations. [22][23][24][25] At the DQA1 and DQB1 loci, the various populations are distinguished largely by frequencies of shared alleles. Apparently, the common DQA1 and DQB1 alleles were present in the founding population of modern humans, after which their frequencies in the expanding populations differentiated by random genetic drift.…”

High variability of TLR4 gene in different ethnic groups in Iran

“…43 A few recently published studies investigated HLA class II allele and haplotype frequencies in order to find the genetic relationship between the major Iranian subpopulations, 43 based on the fact that HLA data can be used to elucidate the genetic history of human populations. 44,45 Parsee, Zoroastrian and Baloch subpopulations were found to be mainly confined to intrapopulation variations, with little subdivision among studied Iranian populations. 41 A closer genetic relationship was present between Iranian Arabs and Iranian Jews when compared with either Iranian Arabs and Middle-Eastern Arabs or Iranian Jews and other Jews.…”

Origin of Azeris (Iran) according to HLA genes

“…The nine most frequent four HLA loci haplotype combinations (A-B-DRB1-DQB1) were calculated (Table 4) Gonzalez-Galarza et al 2011;Matevosyan et al 2011;Isabel et al 1998;Uinuk-Ool et al 2002;Arnaiz-Villena et al 2003;Arnaiz-Villena et al 1999;Grahovac et al 1998;Rey et al 2013;Rey et al 2014;Munkhbat et al 1997;Gomez-Casado et al 2000;Arnaiz-Villena et al 2016;Mack and Erlich, 2006;Moscoso et al 2008;Farjadian and Ghaderi, 2007).…”