Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups

Tuvans are one of the most compactly living peoples of Southern Siberia, settled mainly in the territory of Tuva. The gene pool of the Tuvans is quite isolated, due to endogamy and a very low frequency of interethnic marriages. The structure of the gene pool of the Tuvans and other Siberian populati...

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Main Authors: V. A. Stepanov, N. A. Kolesnikov, L. V. Valikhova, A. A. Zarubin, I. Yu. Khitrinskaya, V. N. Kharkov
Format: Article
Language:English
Published: Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders 2023-03-01
Series:Вавиловский журнал генетики и селекции
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Online Access:https://vavilov.elpub.ru/jour/article/view/3630
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author V. A. Stepanov
N. A. Kolesnikov
L. V. Valikhova
A. A. Zarubin
I. Yu. Khitrinskaya
V. N. Kharkov
author_facet V. A. Stepanov
N. A. Kolesnikov
L. V. Valikhova
A. A. Zarubin
I. Yu. Khitrinskaya
V. N. Kharkov
author_sort V. A. Stepanov
collection DOAJ
description Tuvans are one of the most compactly living peoples of Southern Siberia, settled mainly in the territory of Tuva. The gene pool of the Tuvans is quite isolated, due to endogamy and a very low frequency of interethnic marriages. The structure of the gene pool of the Tuvans and other Siberian populations was studied using a genomewide panel of autosomal single nucleotide polymorphic markers and Y-chromosome markers. The results of the analysis of the frequencies of autosomal SNPs by various methods, the similarities in the composition of the Y-chromosome haplogroups and YSTR haplotypes show that the gene pool of the Tuvans is very heterogeneous in terms of the composition of genetic components. It includes the ancient autochthonous Yeniseian component, which dominates among the Chulym Turks and Kets, the East Siberian component, which prevails among the Yakuts and Evenks, and the Far Eastern component, the frequency of which is maximum among the Nivkhs and Udeges. Analysis of the composition of IBD-blocks on autosomes shows the maximum genetic relationship of the Tuvans with the Southern Altaians, Khakas and Shors, who were formed during the settlement of the Turkic groups of populations on the territory of the Altai-Sayan region. A very diverse composition of the Tuvan gene pool is shown for various sublines of Y-chromosomal haplogroups, most of which show strong ethnic specificity. Phylogenetic analysis of individual Y-chromosome haplogroups demonstrates the maximum proximity of the gene pool of the Tuvans with the Altaians, Khakas and Shors. Differences in frequencies of Y-chromosome haplogroups between the Todzhans and Tuvans and a change in the frequencies of haplogroups from south to north associated with the East Asian component were found. The majority of the most frequent Y-chromosome haplogroups in the Tuvans demonstrate the founder effect, the formation age of which is fully consistent with the data on their ethnogenesis.
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institution Kabale University
issn 2500-3259
language English
publishDate 2023-03-01
publisher Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
record_format Article
series Вавиловский журнал генетики и селекции
spelling doaj-art-980115c19c5c4b84ab30ac5ec69743692025-02-01T09:58:11ZengSiberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and BreedersВавиловский журнал генетики и селекции2500-32592023-03-01271364510.18699/VJGB-23-061327Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroupsV. A. Stepanov0N. A. Kolesnikov1L. V. Valikhova2A. A. Zarubin3I. Yu. Khitrinskaya4V. N. Kharkov5Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesTuvans are one of the most compactly living peoples of Southern Siberia, settled mainly in the territory of Tuva. The gene pool of the Tuvans is quite isolated, due to endogamy and a very low frequency of interethnic marriages. The structure of the gene pool of the Tuvans and other Siberian populations was studied using a genomewide panel of autosomal single nucleotide polymorphic markers and Y-chromosome markers. The results of the analysis of the frequencies of autosomal SNPs by various methods, the similarities in the composition of the Y-chromosome haplogroups and YSTR haplotypes show that the gene pool of the Tuvans is very heterogeneous in terms of the composition of genetic components. It includes the ancient autochthonous Yeniseian component, which dominates among the Chulym Turks and Kets, the East Siberian component, which prevails among the Yakuts and Evenks, and the Far Eastern component, the frequency of which is maximum among the Nivkhs and Udeges. Analysis of the composition of IBD-blocks on autosomes shows the maximum genetic relationship of the Tuvans with the Southern Altaians, Khakas and Shors, who were formed during the settlement of the Turkic groups of populations on the territory of the Altai-Sayan region. A very diverse composition of the Tuvan gene pool is shown for various sublines of Y-chromosomal haplogroups, most of which show strong ethnic specificity. Phylogenetic analysis of individual Y-chromosome haplogroups demonstrates the maximum proximity of the gene pool of the Tuvans with the Altaians, Khakas and Shors. Differences in frequencies of Y-chromosome haplogroups between the Todzhans and Tuvans and a change in the frequencies of haplogroups from south to north associated with the East Asian component were found. The majority of the most frequent Y-chromosome haplogroups in the Tuvans demonstrate the founder effect, the formation age of which is fully consistent with the data on their ethnogenesis.https://vavilov.elpub.ru/jour/article/view/3630gene poolhuman populationgenetic diversitygenetic componentsy-chromosometuvans
spellingShingle V. A. Stepanov
N. A. Kolesnikov
L. V. Valikhova
A. A. Zarubin
I. Yu. Khitrinskaya
V. N. Kharkov
Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups
Вавиловский журнал генетики и селекции
gene pool
human population
genetic diversity
genetic components
y-chromosome
tuvans
title Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups
title_full Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups
title_fullStr Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups
title_full_unstemmed Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups
title_short Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups
title_sort structure and origin of tuvan gene pool according to autosome snp and y chromosome haplogroups
topic gene pool
human population
genetic diversity
genetic components
y-chromosome
tuvans
url https://vavilov.elpub.ru/jour/article/view/3630
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