RESUMO
To resolve the phylogeny of certain mitochondrial DNA (mtDNA) haplogroups in eastern Europe and estimate their evolutionary age, a total of 73 samples representing mitochondrial haplogroups U4, HV*, and R1 were selected for complete mitochondrial genome sequencing from a collection of about 2,000 control region sequences sampled in eastern (Russians, Belorussians, and Ukrainians) and western (Poles, Czechs, and Slovaks) Slavs. On the basis of whole-genome resolution, we fully characterized a number of haplogroups (HV3, HV4, U4a1, U4a2, U4a3, U4b, U4c, U4d, and R1a) that were previously described only partially. Our findings demonstrate that haplogroups HV3, HV4, and U4a1 could be traced back to the pre-Neolithic times ( approximately 12,000-19,000 years before present [YBP]) in eastern Europe. In addition, an ancient connection between the Caucasus/Europe and India has been revealed by analysis of haplogroup R1 diversity, with a split between the Indian and Caucasus/European R1a lineages occurring about 16,500 years ago. Meanwhile, some mtDNA subgroups detected in Slavs (such as U4a2a, U4a2*, HV3a, and R1a1) are definitely younger being dated between 6,400 and 8,200 YBP. However, robust age estimations appear to be problematic due to the high ratios of nonsynonymous to synonymous substitutions found in young mtDNA subclusters.
Assuntos
DNA Mitocondrial/genética , Etnicidade/genética , Evolução Molecular , Haplótipos/genética , Filogenia , Sequência de Bases , Europa Oriental , Humanos , Dados de Sequência Molecular , Polimorfismo de Fragmento de Restrição/genética , Análise de Sequência de DNARESUMO
Polymorphism of two single nucleotide loci rs758130 (T/C) and rs2238296 (T/C) of mitochondrial DNA-polymerase gamma (POLG1) gene has been studied in individuals of different ethnoracial ancestry in Russians and Buryats) with already known genotypes of microsatellite CAG-repeat of this gene. It was found that alleles with the number of repeats unequal to 10 are more often detected on the background of haplotype TT than CC. Results of phylogenetic analysis of the POLG1 gene intron 2 nucleotide sequences in humans and chimpanzee have shown that haplotype TT heterogeneous in relation to CAG-repeat polymorphism appears to be evolutionary younger than haplotype CC. The data obtained can be used for further studies of relationships between CAG-repeat polymorphisms and male infertility.
Assuntos
Alelos , DNA Polimerase Dirigida por DNA/genética , Proteínas Mitocondriais/genética , Filogenia , Polimorfismo de Nucleotídeo Único , Repetições de Trinucleotídeos/genética , Animais , DNA Polimerase gama , DNA Polimerase Dirigida por DNA/metabolismo , Feminino , Instabilidade Genômica , Haplótipos/genética , Humanos , Infertilidade Masculina/enzimologia , Infertilidade Masculina/genética , Íntrons/genética , Masculino , Proteínas Mitocondriais/metabolismo , Pan troglodytes/genética , Pan troglodytes/metabolismo , Sibéria/etnologiaRESUMO
In Russian populations, polymorphism of two pigmentation system genes, OCA2 (loci 305, 355, and 419, tested in Russians, Buryats, Chukchi, Koryaks, and Evens) and ASIP (locus 8818, tested in Russians and Buryats) was examined. Pairwise comparisons of the F(ST) distances between the populations showed that only the populations from Northeast Asia (Chukchi, Koryaks, and Evens) were statistically significantly different from all other populations, at least relative to one of the OCA2 locus. In Russians from Pskov oblast and Novgorod oblast, increased frequency (up to 6%) of the OCA2 allele 419A was revealed. In earlier studies, as association of this allele with green eye color was demonstrated. The data obtained in terms of their application for ethnic population genetics.
Assuntos
Proteína Agouti Sinalizadora/genética , Etnicidade/genética , Cor de Olho/genética , Proteínas de Membrana Transportadoras/genética , Polimorfismo Genético , Alelos , Feminino , Frequência do Gene/genética , Humanos , Masculino , Locos de Características Quantitativas/genética , Federação RussaRESUMO
The data on mitochondrial DNA (mtDNA) restriction polymorphism in Czech population (n = 279) are presented. It was demonstrated that in terms of their structure, mitochondrial gene pools of Czechs and other Slavic populations (Russians, Poles, Slovenians, and Bosnians) were practically indistinguishable. In Czechs, the frequency of eastern-Eurasian (Mongoloid) mtDNA lineages constituted 1.8%. The spread of eastern-Eurasian mtDNA lineages belonging to different ethnolinguistic groups in the populations of Europe was examined. Frequency variations of these DNA lineages in different Slavic groups was observed, with the range from 1.2 and 1.6% in Southern and Western Slavs, respectively, to 1.3 to 5.2% in Eastern Slavs, the Russian population of Eastern Europe. The highest frequency of Mongoloid component was detected in the mitochondrial gene pools of Russian populations from the Russian North and the Northwestern region of Russia. This finding can be explained in terms of assimilation of northern-European Finno--Ugric populations during the formation of the Russian population of these regions. The origin of Mongoloid component in the gene pools of different groups of Slavs is discussed.
Assuntos
Povo Asiático/genética , DNA Mitocondrial/genética , Genes Mitocondriais , Genética Populacional , Polimorfismo Genético , População Branca/genética , Humanos , FilogeniaAssuntos
DNA Polimerase Dirigida por DNA/genética , Diabetes Mellitus Tipo 1/genética , Neuropatias Diabéticas/genética , Etnicidade/genética , Genética Populacional , Mitocôndrias/genética , Alelos , Dano ao DNA , DNA Polimerase gama , Reparo do DNA/genética , DNA Polimerase Dirigida por DNA/metabolismo , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/etnologia , Neuropatias Diabéticas/etnologia , Neuropatias Diabéticas/etiologia , Frequência do Gene , Ligação Genética , Loci Gênicos , Haplótipos , Heterozigoto , Humanos , Mitocôndrias/metabolismo , Estresse Oxidativo , Polimorfismo Genético , Regiões Promotoras Genéticas , Federação Russa , Estados UnidosRESUMO
To gain insight into the mitochondrial gene pool diversity of European populations, we studied mitochondrial DNA (mtDNA) variability in 207 subjects from western and eastern areas of Slovakia. Sequencing of two hypervariable segments, HVS I and HVS II, in combination with screening of coding region haplogroup-specific RFLP-markers, revealed that the majority of Slovak mtDNAs belong to the common West Eurasian mitochondrial haplogroups (HV, J, T, U, N1, W, and X). However, a few sub-Saharan African (L2a) mtDNAs were detected in a population from eastern part of Slovakia. In addition, about 3% of mtDNAs from eastern Slovakia encompass Roma-specific lineages. By means of complete mtDNA sequencing we demonstrate here that the Roma-specific M-lineages observed in gene pools of different Slavonic populations (Slovaks, Poles and Russians), belong to Indian-specific haplogroups M5a1 and M35. Moreover, we show that haplogroup J lineages found in gene pools of the Roma and some Slavonic populations (Czechs and Slovaks) belong to new subhaplogroup J1a, which is defined by coding region mutation at position 8460.