The study of the Volga-Ural region and the Central Asia populations is carried out on the basis o... more The study of the Volga-Ural region and the Central Asia populations is carried out on the basis of the analysis of SNP and microsatellites of Y-chromosome, and also mtDNA hypervariable segment I and coding region. Principally new data on relationship, reciprocal location, degree of similarity and distinction of populations are received. Genetic relationships between populations of these regions are investigated.
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova / Ministerstvo zdravookhraneniia i meditsinskoĭ promyshlennosti Rossiĭskoĭ Federatsii, Vserossiĭskoe obshchestvo nevrologov [i] Vserossiĭskoe obshchestvo psikhiatrov, 2007
The SpI (1546G>T) polymorphism of the CollA1 gene and the FokI (3663T>C) polymorphism of th... more The SpI (1546G>T) polymorphism of the CollA1 gene and the FokI (3663T>C) polymorphism of the vitamin D receptor gene have been studied in patients with syringomyelia and controls of different ethnic origin (Tartars, Bashkirs, Russians). Ethnic differences in allele and genotype frequencies have been revealed in the control group. Frequency of the s allele of the CollA1 gene was higher in Russian patients and that of the FokI FF genotype in Tartar patients. The data obtained suggest a possible role of these genes in the pathogenesis of syringomyelia.
Allele frequency distribution of CTG-repeat in the 3'-flanking region of DMPK gene was analyz... more Allele frequency distribution of CTG-repeat in the 3'-flanking region of DMPK gene was analyzed in populations of Yakutia (three ethnogeographical groups of Yakuts, Evenks, Evens, Yukaghirs, Dolgans) and Central Asia (Kazakhs, Uzbeks, Uighurs). Frequencies of CTG alleles were found to be significantly different in two regions. Allele frequency distribution in populations of Yakutia was similar to Asian populations, whereas Central Asian populations showed similarity to European populations. The features of allele spectrum in Yakut populations were discussed in terms of high prevalence of myotonic dystrophy in Yakuts. Our result supports the hypothesis of founder effect in spread of myotonic dystrophy in Yakuts. The phylogenetic relationships between the investigated populations based on polymorphism of CTG-locus of the DMPK gene have been analyzed as well.
Analysis of markers mtDNA in a population of Nogays (n = 206), living on Nothern Caucasus and spe... more Analysis of markers mtDNA in a population of Nogays (n = 206), living on Nothern Caucasus and speaking on language of Turkic branch of the Altaic linguistic family, has shown, that the level of their genetic differentiation is high (H = 0.99). Among the found haplotypes there is all the basic Western Eurasian haplogroups, most often of which are clusters H (22%) and U (21%), however, the percentage of the lineages specific only for populations of East Eurasia (40%) is highest. In a population of Nogays there are also variants mtDNA, belonging to haplogroup M1, characteristic for North East Africa, and gaplogroup U2, typical for populations of India. This testifies about presence in a gene pool of Nogays people of components of a various parentage.
Nine Alu loci (Ya5NBC5, Ya5NBC27, Ya5NBC148, Ya5NBC182, YA5NBC361, ACE, ApoA1, PV92, TPA25) were ... more Nine Alu loci (Ya5NBC5, Ya5NBC27, Ya5NBC148, Ya5NBC182, YA5NBC361, ACE, ApoA1, PV92, TPA25) were analyzed in six ethnic populations (Trans-Ural Bashkirs, Tatars-Mishars, Mordovians-Moksha, Mountain Maris, Udmurts, and Komi-Permyaks) of the Volga-Ural region and in three Central Asian populations (Uzbeks, Kazakhs, and Uigurs). All Alu insertions analyzed appeared to be polymorphic in all populations examined. The frequency of insertion varied from 0.110 in Mountain Maris at the Ya5NBC5 locus to 0.914 in Tatars at the ApoA1 locus. The data on the allele frequency distribution at nine loci point to the existence of substantial genetic diversity in the populations examined. The value of the observed heterozygosity averaged over nine Alu insertions varied from 0.326 in Mountain Maris to 0.445 in Kazakhs and Uigurs. The level of the interpopulation genetic differences for the Volga-Ural population (Fst = 0.061) was higher than for the populations of Central Asia (Fst = 0.024), Europe (Fst...
Genetic diversity has been analyzed in 22 ethnic groups of the Caucasus on the basis of data on Y... more Genetic diversity has been analyzed in 22 ethnic groups of the Caucasus on the basis of data on Y-chromosome and mitochondrial DNA (mtDNA) markers, as well as genome-wide data on autosomal single-nucleotide polymorphisms (SNPs). It has been found that the West Asian component is prevailing in all ethnic groups studied except for Nogays. This Near Eastern ancestral component has proved to be characteristic of Caucasian populations and almost entirely absent in their northern neighbors inhabiting the Eastern European Plain. Turkic-speaking populations, except Nogays, did not exhibit an increased proportion of Eastern Eurasian mtDNA or Y-chromosome haplogroups compared to some Abkhaz-Adyghe populations (Adygs and Kabardians). Genome-wide SNP analysis has also shown substantial differences of Nogays from all other Caucasian populations studied. However, the characteristic difference of Nogays from other populations of the Caucasus seems somewhat ambiguous in terms of the R1a1a-M17(M198) and R1b1b1-M73 haplogroups of the Y chromosome. The state of these haplogroups in Turkic-speaking populations of the Caucasus requires further study.
VNTR allelic polymorphism at the phenylalanine hydroxilase ( PAH ) and endothelial constitutive n... more VNTR allelic polymorphism at the phenylalanine hydroxilase ( PAH ) and endothelial constitutive nitric oxide synthase ( eNOS ) genes and the prevalence of the CCR5 chemokine receptor gene 32-bp deletion were examined in four populations of Northern Caucasus: Adygs, Kumyks, Karachais, and Nogais (Kuban and Karanogais). Population-specific features of the allele and genotype frequency distribution patterns of the polymorphisms examined were described. The data obtained were compared to those obtained from literature. The results of the study confirmed that the frequency and occurrence of the PAH polymorphic alleles exhibit substantial interpopulation differences. In the populations of Northern Caucasus, the eNOS minisatellite polymorphism alleles and genotypes frequency distribution patterns were close to those described earlier for populations of the Volga-Ural region (VUR), and also for the Australian Caucasoids, Japanese, and Turks. In the populations examined, the mean frequency of the CCR5 gene deletion was 0.055, which was somewhat lower than in the populations of VUR (0.070) and Europe (0.081), and practically identical to that in Asian populations (0.050). For each population observed and expected heterozygosities at each locus were calculated. In general, the gene pool of Northern Caucasian populations showed substantial differentiation at the loci examined: the G ST value was 0.0274. The data for individual loci showed that the greater contribution to the interpopulation diversity was made by the differences in the PAH VNTR allele frequencies ( G ST = 0.04), while the differences at the eNOS and CCR5 loci were small ( G ST = 0.0025 and G ST = 0.0039, respectively).
Eight Alu insertions at the NBC27, TPA25, NBC148, NBC123, ACE, APOA1, NBC51, and PV92 locus were ... more Eight Alu insertions at the NBC27, TPA25, NBC148, NBC123, ACE, APOA1, NBC51, and PV92 locus were examined in three subethnic groups of Kalmyks (Torgouds, Derbets, and Buzava). In general, the pattern of allele frequencies in Kalmyks was consistent with that in Asian populations of the world, and was similar to the Alu insertion frequencies pattern in Turkic populations of the Volga--Ural region and Central Asia. Pairwise comparisons of three subpopulations of Kalmyks with respect to the frequency distributions of eight Alu insertions revealed the differences between the groups examined. The coefficient of gene differentiation, F(st), constituted 1.37%, pointing to the common origin of the groups of interest, as well as to the uniformity of the gene pools of subethnic groups of Kalmyks examined.
Mitochondrial DNA (mtDNA) variation was studied in population of Oroks ( N = 61), the indigenous ... more Mitochondrial DNA (mtDNA) variation was studied in population of Oroks ( N = 61), the indigenous inhabitants of Eastern Siberia. Most of the mtDNA types examined fell into five haplogroups (C, D, G, M10, and Y) typical of Eastern Eurasian populations. For three haplogroups (D, C, and M10), the founder effect was established. In one individual, a unique lineage belonging to haplogroup HV and typical of Caucasoids was detected.
The history of the Jewish Diaspora dates back to the Assyrian and Babylonian conquests in the Lev... more The history of the Jewish Diaspora dates back to the Assyrian and Babylonian conquests in the Levant, followed by complex demographic and migratory trajectories over the ensuing millennia which pose a serious challenge to unraveling population genetic patterns. Here we ask whether phylogenetic analysis, based on highly resolved mitochondrial DNA (mtDNA) phylogenies can discern among maternal ancestries of the Diaspora. Accordingly, 1,142 samples from 14 different non-Ashkenazi Jewish communities were analyzed. A list of complete mtDNA sequences was established for all variants present at high frequency in the communities studied, along with high-resolution genotyping of all samples. Unlike the previously reported pattern observed among Ashkenazi Jews, the numerically major portion of the non-Ashkenazi Jews, currently estimated at 5 million people and comprised of the Moroccan, Iraqi, Iranian and Iberian Exile Jewish communities showed no evidence for a narrow founder effect, which did however characterize the smaller and more remote Belmonte, Indian and the two Caucasus communities. The Indian and Ethiopian Jewish sample sets suggested local female introgression, while mtDNAs in all other communities studied belong to a well-characterized West Eurasian pool of maternal lineages. Absence of sub-Saharan African mtDNA lineages among the North African Jewish communities suggests negligible or low level of admixture with females of the host populations among whom the African haplogroup (Hg) L0-L3 sub-clades variants are common. In contrast, the North African and Iberian Exile Jewish communities show influence of putative Iberian admixture as documented by mtDNA Hg HV0 variants. These findings highlight striking differences in the demographic history of the widespread Jewish Diaspora.
More than a third of the European pool of human mitochondrial DNA (mtDNA) is fragmented into a nu... more More than a third of the European pool of human mitochondrial DNA (mtDNA) is fragmented into a number of subclades of haplogroup (hg) H, the most frequent hg throughout western Eurasia. Although there has been considerable recent progress in studying mitochondrial genome variation in Europe at the complete sequence resolution, little data of comparable resolution is so far available for regions like the Caucasus and the Near and Middle East-areas where most of European genetic lineages, including hg H, have likely emerged. This gap in our knowledge causes a serious hindrance for progress in understanding the demographic prehistory of Europe and western Eurasia in general. Here we describe the phylogeography of hg H in the populations of the Near East and the Caucasus. We have analyzed 545 samples of hg H at high resolution, including 15 novel complete mtDNA sequences. As in Europe, most of the present-day Near Eastern-Caucasus area variants of hg H started to expand after the last glacial maximum (LGM) and presumably before the Holocene. Yet importantly, several hg H subclades in Near East and Southern Caucasus region coalesce to the pre-LGM period. Furthermore, irrespective of their common origin, significant differences between the distribution of hg H sub-hgs in Europe and in the Near East and South Caucasus imply limited post-LGM maternal gene flow between these regions. In a contrast, the North Caucasus mitochondrial gene pool has received an influx of hg H variants, arriving from the Ponto-Caspian/East European area.
The Caucasus, inhabited by modern humans since the Early Upper Paleolithic and known for its ling... more The Caucasus, inhabited by modern humans since the Early Upper Paleolithic and known for its linguistic diversity, is considered to be important for understanding human dispersals and genetic diversity in Eurasia. We report a synthesis of autosomal, Y chromosome, and mitochondrial DNA (mtDNA) variation in populations from all major subregions and linguistic phyla of the area. Autosomal genome variation in the Caucasus reveals significant genetic uniformity among its ethnically and linguistically diverse populations and is consistent with predominantly Near/Middle Eastern origin of the Caucasians, with minor external impacts. In contrast to autosomal and mtDNA variation, signals of regional Y chromosome founder effects distinguish the eastern from western North Caucasians. Genetic discontinuity between the North Caucasus and the East European Plain contrasts with continuity through Anatolia and the Balkans, suggesting major routes of ancient gene flows and admixture.
The allele frequency distribution of the (CTG) n repeat located in the 3'-terminal region of the ... more The allele frequency distribution of the (CTG) n repeat located in the 3'-terminal region of the myotonin protein kinase gene ( DMPK ) was compared for populations of Yakutia (three ethnogeographic groups of Yakuts, Evenks, Evens, Yukaghirs, and Dolgans) and Central Asia (Kazakhs, Uzbeks, and Uighurs) and other ethnic groups. The populations of the two regions proved to considerably differ from each other: features characteristic of Asian Mongoloids were more distinct in the populations of Yakutia, while the Central Asian populations were closer to European populations. The (CTG) n allele spectrum of Yakuts was considered in connection with the high incidence of myotonic dystrophy in Yakutia. The results support the hypothesis of the founder effect for the spread of myotonic dystrophy in Yakuts. Data on the (CTG) n polymorphism were used to estimate the phylogenetic relationships of the populations under study.
In this report, we studied on a homoplasmic T12338C change in mitochondrial DNA (mtDNA), which su... more In this report, we studied on a homoplasmic T12338C change in mitochondrial DNA (mtDNA), which substituted methionine in the translational initiation codon of the NADH dehydrogenase subunit 5 gene (ND5) with threonine. This nucleotide change was originally identified in two mtDNAs belonging to haplogroup F2 by our previous complete sequencing of 48 mtDNAs. Since then, a total of 76 F2 mtDNAs have been identified by the variations occurring in the hypervariable segments and coding regions among more than 3,000 individuals across China. As the T12338C change was detected in 32 samples representing various sub-clades of the F2 haplogroup while not in 14 non-F2 controls, we believe that the T12338C change is specific to the F2 haplogroup. As F2 and its sub-clades were widely distributed in normal individuals of various Chinese populations, we conclude that T12338C is not pathogenic. In addition, based on the average distribution frequency, haplotype diversity and nucleotide diversity of haplogroup F2 in the populations across China, the T12338C nucleotide substitution seems to have been occurred in north China about 42,000 years ago. Our results provided a good paradigm for distinguishing a polymorphic change from a pathogenic mutation based on mtDNA phylogeny.
Haplogroup G, together with J2 clades, has been associated with the spread of agriculture, especi... more Haplogroup G, together with J2 clades, has been associated with the spread of agriculture, especially in the European context. However, interpretations based on simple haplogroup frequency clines do not recognize underlying patterns of genetic diversification. Although progress has been recently made in resolving the haplogroup G phylogeny, a comprehensive survey of the geographic distribution patterns of the significant sub-clades of this haplogroup has not been conducted yet. Here we present the haplogroup frequency distribution and STR variation of 16 informative G sub-clades by evaluating 1472 haplogroup G chromosomes belonging to 98 populations ranging from Europe to Pakistan. Although no basal G-M201* chromosomes were detected in our data set, the homeland of this haplogroup has been estimated to be somewhere nearby eastern Anatolia, Armenia or western Iran, the only areas characterized by the co-presence of deep basal branches as well as the occurrence of high sub-haplogroup diversity. The P303 SNP defines the most frequent and widespread G sub-haplogroup. However, its sub-clades have more localized distribution with the U1-defined branch largely restricted to Near/Middle Eastern and the Caucasus, whereas L497 lineages essentially occur in Europe where they likely originated. In contrast, the only U1 representative in Europe is the G-M527 lineage whose distribution pattern is consistent with regions of Greek colonization. No clinal patterns were detected suggesting that the distributions are rather indicative of isolation by distance and demographic complexities.
Human Y-chromosome haplogroup structure is largely circumscribed by continental boundaries. One n... more Human Y-chromosome haplogroup structure is largely circumscribed by continental boundaries. One notable exception to this general pattern is the young haplogroup R1a that exhibits post-Glacial coalescent times and relates the paternal ancestry of more than 10% of men in a wide geographic area extending from South Asia to Central East Europe and South Siberia. Its origin and dispersal patterns are poorly understood as no marker has yet been described that would distinguish European R1a chromosomes from Asian. Here we present frequency and haplotype diversity estimates for more than 2000 R1a chromosomes assessed for several newly discovered SNP markers that introduce the onset of informative R1a subdivisions by geography. Marker M434 has a low frequency and a late origin in West Asia bearing witness to recent gene flow over the Arabian Sea. Conversely, marker M458 has a significant frequency in Europe, exceeding 30% in its core area in Eastern Europe and comprising up to 70% of all M17 chromosomes present there. The diversity and frequency profiles of M458 suggest its origin during the early Holocene and a subsequent expansion likely related to a number of prehistoric cultural developments in the region. Its primary frequency and diversity distribution correlates well with some of the major Central and East European river basins where settled farming was established before its spread further eastward. Importantly, the virtual absence of M458 chromosomes outside Europe speaks against substantial patrilineal gene flow from East Europe to Asia, including to India, at least since the mid-Holocene.
... living in four Eur-asian regions. Hum Hered 2006; 61(1): 1-9. 18. Yunusbayev B, Kutuev I, Khu... more ... living in four Eur-asian regions. Hum Hered 2006; 61(1): 1-9. 18. Yunusbayev B, Kutuev I, Khusainova R, Guseinov G, Khusnutdinova E. Genetic structure of Dagestan populations: a study of 11 Alu insertion polymorphisms. Hum Biol 2006; 78(4): 465-476. 19. Osmanov MO. ...
Both the extent and location of the maternal ancestral deme from which the Ashkenazi Jewry arose ... more Both the extent and location of the maternal ancestral deme from which the Ashkenazi Jewry arose remain obscure. Here, using complete sequences of the maternally inherited mitochondrial DNA (mtDNA), we show that close to one-half of Ashkenazi Jews, estimated at 8,000,000 people, can be traced back to only 4 women carrying distinct mtDNAs that are virtually absent in other populations, with the important exception of low frequencies among non-Ashkenazi Jews. We conclude that four founding mtDNAs, likely of Near Eastern ancestry, underwent major expansion(s) in Europe within the past millennium.
The origin of the Etruscan people has been a source of major controversy for the past 2,500 years... more The origin of the Etruscan people has been a source of major controversy for the past 2,500 years, and several hypotheses have been proposed to explain their language and sophisticated culture, including an Aegean/Anatolian origin. To address this issue, we analyzed the mitochondrial DNA (mtDNA) of 322 subjects from three well-defined areas of Tuscany and compared their sequence variation with that of 55 western Eurasian populations. Interpopulation comparisons reveal that the modern population of Murlo, a small town of Etruscan origin, is characterized by an unusually high frequency (17.5%) of Near Eastern mtDNA haplogroups. Each of these haplogroups is represented by different haplotypes, thus dismissing the possibility that the genetic allocation of the Murlo people is due to drift. Other Tuscan populations do not show the same striking feature; however, overall, ∼5% of mtDNA haplotypes in Tuscany are shared exclusively between Tuscans and Near Easterners and occupy terminal positions in the phylogeny. These findings support a direct and rather recent genetic input from the Near East-a scenario in agreement with the Lydian origin of Etruscans. Such a genetic contribution has been extensively diluted by admixture, but it appears that there are still locations in Tuscany, such as Murlo, where traces of its arrival are easily detectable. (A.A.; A.O.; M.P.; S.F.; V.B.; M.A.; A.S.S.-B.; O.S.; A.T.);
The study of the Volga-Ural region and the Central Asia populations is carried out on the basis o... more The study of the Volga-Ural region and the Central Asia populations is carried out on the basis of the analysis of SNP and microsatellites of Y-chromosome, and also mtDNA hypervariable segment I and coding region. Principally new data on relationship, reciprocal location, degree of similarity and distinction of populations are received. Genetic relationships between populations of these regions are investigated.
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova / Ministerstvo zdravookhraneniia i meditsinskoĭ promyshlennosti Rossiĭskoĭ Federatsii, Vserossiĭskoe obshchestvo nevrologov [i] Vserossiĭskoe obshchestvo psikhiatrov, 2007
The SpI (1546G>T) polymorphism of the CollA1 gene and the FokI (3663T>C) polymorphism of th... more The SpI (1546G>T) polymorphism of the CollA1 gene and the FokI (3663T>C) polymorphism of the vitamin D receptor gene have been studied in patients with syringomyelia and controls of different ethnic origin (Tartars, Bashkirs, Russians). Ethnic differences in allele and genotype frequencies have been revealed in the control group. Frequency of the s allele of the CollA1 gene was higher in Russian patients and that of the FokI FF genotype in Tartar patients. The data obtained suggest a possible role of these genes in the pathogenesis of syringomyelia.
Allele frequency distribution of CTG-repeat in the 3'-flanking region of DMPK gene was analyz... more Allele frequency distribution of CTG-repeat in the 3'-flanking region of DMPK gene was analyzed in populations of Yakutia (three ethnogeographical groups of Yakuts, Evenks, Evens, Yukaghirs, Dolgans) and Central Asia (Kazakhs, Uzbeks, Uighurs). Frequencies of CTG alleles were found to be significantly different in two regions. Allele frequency distribution in populations of Yakutia was similar to Asian populations, whereas Central Asian populations showed similarity to European populations. The features of allele spectrum in Yakut populations were discussed in terms of high prevalence of myotonic dystrophy in Yakuts. Our result supports the hypothesis of founder effect in spread of myotonic dystrophy in Yakuts. The phylogenetic relationships between the investigated populations based on polymorphism of CTG-locus of the DMPK gene have been analyzed as well.
Analysis of markers mtDNA in a population of Nogays (n = 206), living on Nothern Caucasus and spe... more Analysis of markers mtDNA in a population of Nogays (n = 206), living on Nothern Caucasus and speaking on language of Turkic branch of the Altaic linguistic family, has shown, that the level of their genetic differentiation is high (H = 0.99). Among the found haplotypes there is all the basic Western Eurasian haplogroups, most often of which are clusters H (22%) and U (21%), however, the percentage of the lineages specific only for populations of East Eurasia (40%) is highest. In a population of Nogays there are also variants mtDNA, belonging to haplogroup M1, characteristic for North East Africa, and gaplogroup U2, typical for populations of India. This testifies about presence in a gene pool of Nogays people of components of a various parentage.
Nine Alu loci (Ya5NBC5, Ya5NBC27, Ya5NBC148, Ya5NBC182, YA5NBC361, ACE, ApoA1, PV92, TPA25) were ... more Nine Alu loci (Ya5NBC5, Ya5NBC27, Ya5NBC148, Ya5NBC182, YA5NBC361, ACE, ApoA1, PV92, TPA25) were analyzed in six ethnic populations (Trans-Ural Bashkirs, Tatars-Mishars, Mordovians-Moksha, Mountain Maris, Udmurts, and Komi-Permyaks) of the Volga-Ural region and in three Central Asian populations (Uzbeks, Kazakhs, and Uigurs). All Alu insertions analyzed appeared to be polymorphic in all populations examined. The frequency of insertion varied from 0.110 in Mountain Maris at the Ya5NBC5 locus to 0.914 in Tatars at the ApoA1 locus. The data on the allele frequency distribution at nine loci point to the existence of substantial genetic diversity in the populations examined. The value of the observed heterozygosity averaged over nine Alu insertions varied from 0.326 in Mountain Maris to 0.445 in Kazakhs and Uigurs. The level of the interpopulation genetic differences for the Volga-Ural population (Fst = 0.061) was higher than for the populations of Central Asia (Fst = 0.024), Europe (Fst...
Genetic diversity has been analyzed in 22 ethnic groups of the Caucasus on the basis of data on Y... more Genetic diversity has been analyzed in 22 ethnic groups of the Caucasus on the basis of data on Y-chromosome and mitochondrial DNA (mtDNA) markers, as well as genome-wide data on autosomal single-nucleotide polymorphisms (SNPs). It has been found that the West Asian component is prevailing in all ethnic groups studied except for Nogays. This Near Eastern ancestral component has proved to be characteristic of Caucasian populations and almost entirely absent in their northern neighbors inhabiting the Eastern European Plain. Turkic-speaking populations, except Nogays, did not exhibit an increased proportion of Eastern Eurasian mtDNA or Y-chromosome haplogroups compared to some Abkhaz-Adyghe populations (Adygs and Kabardians). Genome-wide SNP analysis has also shown substantial differences of Nogays from all other Caucasian populations studied. However, the characteristic difference of Nogays from other populations of the Caucasus seems somewhat ambiguous in terms of the R1a1a-M17(M198) and R1b1b1-M73 haplogroups of the Y chromosome. The state of these haplogroups in Turkic-speaking populations of the Caucasus requires further study.
VNTR allelic polymorphism at the phenylalanine hydroxilase ( PAH ) and endothelial constitutive n... more VNTR allelic polymorphism at the phenylalanine hydroxilase ( PAH ) and endothelial constitutive nitric oxide synthase ( eNOS ) genes and the prevalence of the CCR5 chemokine receptor gene 32-bp deletion were examined in four populations of Northern Caucasus: Adygs, Kumyks, Karachais, and Nogais (Kuban and Karanogais). Population-specific features of the allele and genotype frequency distribution patterns of the polymorphisms examined were described. The data obtained were compared to those obtained from literature. The results of the study confirmed that the frequency and occurrence of the PAH polymorphic alleles exhibit substantial interpopulation differences. In the populations of Northern Caucasus, the eNOS minisatellite polymorphism alleles and genotypes frequency distribution patterns were close to those described earlier for populations of the Volga-Ural region (VUR), and also for the Australian Caucasoids, Japanese, and Turks. In the populations examined, the mean frequency of the CCR5 gene deletion was 0.055, which was somewhat lower than in the populations of VUR (0.070) and Europe (0.081), and practically identical to that in Asian populations (0.050). For each population observed and expected heterozygosities at each locus were calculated. In general, the gene pool of Northern Caucasian populations showed substantial differentiation at the loci examined: the G ST value was 0.0274. The data for individual loci showed that the greater contribution to the interpopulation diversity was made by the differences in the PAH VNTR allele frequencies ( G ST = 0.04), while the differences at the eNOS and CCR5 loci were small ( G ST = 0.0025 and G ST = 0.0039, respectively).
Eight Alu insertions at the NBC27, TPA25, NBC148, NBC123, ACE, APOA1, NBC51, and PV92 locus were ... more Eight Alu insertions at the NBC27, TPA25, NBC148, NBC123, ACE, APOA1, NBC51, and PV92 locus were examined in three subethnic groups of Kalmyks (Torgouds, Derbets, and Buzava). In general, the pattern of allele frequencies in Kalmyks was consistent with that in Asian populations of the world, and was similar to the Alu insertion frequencies pattern in Turkic populations of the Volga--Ural region and Central Asia. Pairwise comparisons of three subpopulations of Kalmyks with respect to the frequency distributions of eight Alu insertions revealed the differences between the groups examined. The coefficient of gene differentiation, F(st), constituted 1.37%, pointing to the common origin of the groups of interest, as well as to the uniformity of the gene pools of subethnic groups of Kalmyks examined.
Mitochondrial DNA (mtDNA) variation was studied in population of Oroks ( N = 61), the indigenous ... more Mitochondrial DNA (mtDNA) variation was studied in population of Oroks ( N = 61), the indigenous inhabitants of Eastern Siberia. Most of the mtDNA types examined fell into five haplogroups (C, D, G, M10, and Y) typical of Eastern Eurasian populations. For three haplogroups (D, C, and M10), the founder effect was established. In one individual, a unique lineage belonging to haplogroup HV and typical of Caucasoids was detected.
The history of the Jewish Diaspora dates back to the Assyrian and Babylonian conquests in the Lev... more The history of the Jewish Diaspora dates back to the Assyrian and Babylonian conquests in the Levant, followed by complex demographic and migratory trajectories over the ensuing millennia which pose a serious challenge to unraveling population genetic patterns. Here we ask whether phylogenetic analysis, based on highly resolved mitochondrial DNA (mtDNA) phylogenies can discern among maternal ancestries of the Diaspora. Accordingly, 1,142 samples from 14 different non-Ashkenazi Jewish communities were analyzed. A list of complete mtDNA sequences was established for all variants present at high frequency in the communities studied, along with high-resolution genotyping of all samples. Unlike the previously reported pattern observed among Ashkenazi Jews, the numerically major portion of the non-Ashkenazi Jews, currently estimated at 5 million people and comprised of the Moroccan, Iraqi, Iranian and Iberian Exile Jewish communities showed no evidence for a narrow founder effect, which did however characterize the smaller and more remote Belmonte, Indian and the two Caucasus communities. The Indian and Ethiopian Jewish sample sets suggested local female introgression, while mtDNAs in all other communities studied belong to a well-characterized West Eurasian pool of maternal lineages. Absence of sub-Saharan African mtDNA lineages among the North African Jewish communities suggests negligible or low level of admixture with females of the host populations among whom the African haplogroup (Hg) L0-L3 sub-clades variants are common. In contrast, the North African and Iberian Exile Jewish communities show influence of putative Iberian admixture as documented by mtDNA Hg HV0 variants. These findings highlight striking differences in the demographic history of the widespread Jewish Diaspora.
More than a third of the European pool of human mitochondrial DNA (mtDNA) is fragmented into a nu... more More than a third of the European pool of human mitochondrial DNA (mtDNA) is fragmented into a number of subclades of haplogroup (hg) H, the most frequent hg throughout western Eurasia. Although there has been considerable recent progress in studying mitochondrial genome variation in Europe at the complete sequence resolution, little data of comparable resolution is so far available for regions like the Caucasus and the Near and Middle East-areas where most of European genetic lineages, including hg H, have likely emerged. This gap in our knowledge causes a serious hindrance for progress in understanding the demographic prehistory of Europe and western Eurasia in general. Here we describe the phylogeography of hg H in the populations of the Near East and the Caucasus. We have analyzed 545 samples of hg H at high resolution, including 15 novel complete mtDNA sequences. As in Europe, most of the present-day Near Eastern-Caucasus area variants of hg H started to expand after the last glacial maximum (LGM) and presumably before the Holocene. Yet importantly, several hg H subclades in Near East and Southern Caucasus region coalesce to the pre-LGM period. Furthermore, irrespective of their common origin, significant differences between the distribution of hg H sub-hgs in Europe and in the Near East and South Caucasus imply limited post-LGM maternal gene flow between these regions. In a contrast, the North Caucasus mitochondrial gene pool has received an influx of hg H variants, arriving from the Ponto-Caspian/East European area.
The Caucasus, inhabited by modern humans since the Early Upper Paleolithic and known for its ling... more The Caucasus, inhabited by modern humans since the Early Upper Paleolithic and known for its linguistic diversity, is considered to be important for understanding human dispersals and genetic diversity in Eurasia. We report a synthesis of autosomal, Y chromosome, and mitochondrial DNA (mtDNA) variation in populations from all major subregions and linguistic phyla of the area. Autosomal genome variation in the Caucasus reveals significant genetic uniformity among its ethnically and linguistically diverse populations and is consistent with predominantly Near/Middle Eastern origin of the Caucasians, with minor external impacts. In contrast to autosomal and mtDNA variation, signals of regional Y chromosome founder effects distinguish the eastern from western North Caucasians. Genetic discontinuity between the North Caucasus and the East European Plain contrasts with continuity through Anatolia and the Balkans, suggesting major routes of ancient gene flows and admixture.
The allele frequency distribution of the (CTG) n repeat located in the 3'-terminal region of the ... more The allele frequency distribution of the (CTG) n repeat located in the 3'-terminal region of the myotonin protein kinase gene ( DMPK ) was compared for populations of Yakutia (three ethnogeographic groups of Yakuts, Evenks, Evens, Yukaghirs, and Dolgans) and Central Asia (Kazakhs, Uzbeks, and Uighurs) and other ethnic groups. The populations of the two regions proved to considerably differ from each other: features characteristic of Asian Mongoloids were more distinct in the populations of Yakutia, while the Central Asian populations were closer to European populations. The (CTG) n allele spectrum of Yakuts was considered in connection with the high incidence of myotonic dystrophy in Yakutia. The results support the hypothesis of the founder effect for the spread of myotonic dystrophy in Yakuts. Data on the (CTG) n polymorphism were used to estimate the phylogenetic relationships of the populations under study.
In this report, we studied on a homoplasmic T12338C change in mitochondrial DNA (mtDNA), which su... more In this report, we studied on a homoplasmic T12338C change in mitochondrial DNA (mtDNA), which substituted methionine in the translational initiation codon of the NADH dehydrogenase subunit 5 gene (ND5) with threonine. This nucleotide change was originally identified in two mtDNAs belonging to haplogroup F2 by our previous complete sequencing of 48 mtDNAs. Since then, a total of 76 F2 mtDNAs have been identified by the variations occurring in the hypervariable segments and coding regions among more than 3,000 individuals across China. As the T12338C change was detected in 32 samples representing various sub-clades of the F2 haplogroup while not in 14 non-F2 controls, we believe that the T12338C change is specific to the F2 haplogroup. As F2 and its sub-clades were widely distributed in normal individuals of various Chinese populations, we conclude that T12338C is not pathogenic. In addition, based on the average distribution frequency, haplotype diversity and nucleotide diversity of haplogroup F2 in the populations across China, the T12338C nucleotide substitution seems to have been occurred in north China about 42,000 years ago. Our results provided a good paradigm for distinguishing a polymorphic change from a pathogenic mutation based on mtDNA phylogeny.
Haplogroup G, together with J2 clades, has been associated with the spread of agriculture, especi... more Haplogroup G, together with J2 clades, has been associated with the spread of agriculture, especially in the European context. However, interpretations based on simple haplogroup frequency clines do not recognize underlying patterns of genetic diversification. Although progress has been recently made in resolving the haplogroup G phylogeny, a comprehensive survey of the geographic distribution patterns of the significant sub-clades of this haplogroup has not been conducted yet. Here we present the haplogroup frequency distribution and STR variation of 16 informative G sub-clades by evaluating 1472 haplogroup G chromosomes belonging to 98 populations ranging from Europe to Pakistan. Although no basal G-M201* chromosomes were detected in our data set, the homeland of this haplogroup has been estimated to be somewhere nearby eastern Anatolia, Armenia or western Iran, the only areas characterized by the co-presence of deep basal branches as well as the occurrence of high sub-haplogroup diversity. The P303 SNP defines the most frequent and widespread G sub-haplogroup. However, its sub-clades have more localized distribution with the U1-defined branch largely restricted to Near/Middle Eastern and the Caucasus, whereas L497 lineages essentially occur in Europe where they likely originated. In contrast, the only U1 representative in Europe is the G-M527 lineage whose distribution pattern is consistent with regions of Greek colonization. No clinal patterns were detected suggesting that the distributions are rather indicative of isolation by distance and demographic complexities.
Human Y-chromosome haplogroup structure is largely circumscribed by continental boundaries. One n... more Human Y-chromosome haplogroup structure is largely circumscribed by continental boundaries. One notable exception to this general pattern is the young haplogroup R1a that exhibits post-Glacial coalescent times and relates the paternal ancestry of more than 10% of men in a wide geographic area extending from South Asia to Central East Europe and South Siberia. Its origin and dispersal patterns are poorly understood as no marker has yet been described that would distinguish European R1a chromosomes from Asian. Here we present frequency and haplotype diversity estimates for more than 2000 R1a chromosomes assessed for several newly discovered SNP markers that introduce the onset of informative R1a subdivisions by geography. Marker M434 has a low frequency and a late origin in West Asia bearing witness to recent gene flow over the Arabian Sea. Conversely, marker M458 has a significant frequency in Europe, exceeding 30% in its core area in Eastern Europe and comprising up to 70% of all M17 chromosomes present there. The diversity and frequency profiles of M458 suggest its origin during the early Holocene and a subsequent expansion likely related to a number of prehistoric cultural developments in the region. Its primary frequency and diversity distribution correlates well with some of the major Central and East European river basins where settled farming was established before its spread further eastward. Importantly, the virtual absence of M458 chromosomes outside Europe speaks against substantial patrilineal gene flow from East Europe to Asia, including to India, at least since the mid-Holocene.
... living in four Eur-asian regions. Hum Hered 2006; 61(1): 1-9. 18. Yunusbayev B, Kutuev I, Khu... more ... living in four Eur-asian regions. Hum Hered 2006; 61(1): 1-9. 18. Yunusbayev B, Kutuev I, Khusainova R, Guseinov G, Khusnutdinova E. Genetic structure of Dagestan populations: a study of 11 Alu insertion polymorphisms. Hum Biol 2006; 78(4): 465-476. 19. Osmanov MO. ...
Both the extent and location of the maternal ancestral deme from which the Ashkenazi Jewry arose ... more Both the extent and location of the maternal ancestral deme from which the Ashkenazi Jewry arose remain obscure. Here, using complete sequences of the maternally inherited mitochondrial DNA (mtDNA), we show that close to one-half of Ashkenazi Jews, estimated at 8,000,000 people, can be traced back to only 4 women carrying distinct mtDNAs that are virtually absent in other populations, with the important exception of low frequencies among non-Ashkenazi Jews. We conclude that four founding mtDNAs, likely of Near Eastern ancestry, underwent major expansion(s) in Europe within the past millennium.
The origin of the Etruscan people has been a source of major controversy for the past 2,500 years... more The origin of the Etruscan people has been a source of major controversy for the past 2,500 years, and several hypotheses have been proposed to explain their language and sophisticated culture, including an Aegean/Anatolian origin. To address this issue, we analyzed the mitochondrial DNA (mtDNA) of 322 subjects from three well-defined areas of Tuscany and compared their sequence variation with that of 55 western Eurasian populations. Interpopulation comparisons reveal that the modern population of Murlo, a small town of Etruscan origin, is characterized by an unusually high frequency (17.5%) of Near Eastern mtDNA haplogroups. Each of these haplogroups is represented by different haplotypes, thus dismissing the possibility that the genetic allocation of the Murlo people is due to drift. Other Tuscan populations do not show the same striking feature; however, overall, ∼5% of mtDNA haplotypes in Tuscany are shared exclusively between Tuscans and Near Easterners and occupy terminal positions in the phylogeny. These findings support a direct and rather recent genetic input from the Near East-a scenario in agreement with the Lydian origin of Etruscans. Such a genetic contribution has been extensively diluted by admixture, but it appears that there are still locations in Tuscany, such as Murlo, where traces of its arrival are easily detectable. (A.A.; A.O.; M.P.; S.F.; V.B.; M.A.; A.S.S.-B.; O.S.; A.T.);
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Papers by I. Kutuev