Paleoasian Substrate in the Gene Pool of Koryaks According to Data on Autosomal SNP Polymorphism and Y-Chromosome Haplogroups

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The gene pool of the Koryaks was studied in comparison with other Far Eastern and Siberian peoples using a genome-wide panel of autosomal single-nucleotide polymorphic markers and Y-chromosome markers. The results of analyzing the frequencies of autosomal SNPs using various methods, the similarity in the composition of Y-chromosome haplogroups and YSTR haplotypes indicate that the gene pool of the Koryaks is as close as possible to the Chukchi one and was formed as a result of the unification of several groups whose ancestors moved from the territory of modern Yakutia and the Amur region. The two dominant Y-chromosome haplogroups of the Koryaks with different sublineages and haplotype clusters demonstrate their contacts with the Chukchi, Evens, Yukaghirs and Eskimos. Analysis of the composition of genetic components and IBD blocks on autosomes indicates the maximum genetic proximity of the Koryaks to the Chukchi. Among the Siberian populations, the Chukchi, Koryaks and Nivkhs form a separate cluster from the main group of Siberian populations, while the Chukchi and Koryaks are more closely related. Far Eastern populations are divided in full accordance with geographic localization into the northern group (Chukchi and Koryaks) and the southern group, including the Nivkhs and Udege. A more detailed analysis of the component composition of gene pools in some populations reveals components specific to them. The isolation of such components is associated with founder effects and a shift in allele frequencies for these populations. The Koryaks and Chukchi are one of the most striking examples of long-standing genetic kinship. In their populations, maximum values of the level of genomic inbreeding FROH > 1.5 (0.0422, 0.0409) were found, which is natural due to their relative isolation.

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作者简介

V. Kharkov

Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics

编辑信件的主要联系方式.
Email: vladimir.kharkov@medgenetics.ru
俄罗斯联邦, Tomsk, 634050

N. Kolesnikov

Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics

Email: vladimir.kharkov@medgenetics.ru
俄罗斯联邦, Tomsk, 634050

A. Zarubin

Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics

Email: vladimir.kharkov@medgenetics.ru
俄罗斯联邦, Tomsk, 634050

L. Valikhova

Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics

Email: vladimir.kharkov@medgenetics.ru
俄罗斯联邦, Tomsk, 634050

I. Khitrinskaya

Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics

Email: vladimir.kharkov@medgenetics.ru
俄罗斯联邦, Tomsk, 634050

M. Voevoda

Federal State Budget Scientific Institution “Federal Research Center of Fundamental and Translational Medicine”

Email: vladimir.kharkov@medgenetics.ru
俄罗斯联邦, Novosibirsk, 630060

M. Gubina

The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences

Email: vladimir.kharkov@medgenetics.ru
俄罗斯联邦, Novosibirsk, 630090

A. Sukhomyasova

Ammosov North-Eastern Federal University

Email: vladimir.kharkov@medgenetics.ru
俄罗斯联邦, Yakutsk, 677000

V. Stepanov

Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics

Email: vladimir.kharkov@medgenetics.ru
俄罗斯联邦, Tomsk, 634050

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2. Supplement
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3. Fig. 1. The position of the studied populations in the space of the main components in terms of allele frequencies of 1.7 million SNPs.

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4. Fig. 2. Differentiation of the genomes of the population of the Far East and Siberia by three components of t-SNE.

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5. Fig. 3. Median network of YSTR haplotypes of haplogroup C2a1a2b. The Koryaks are indicated in gray, the Nivkhs in white, and the Chukchi in black.

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6. Fig. 4. Median network of YSTR haplotypes of haplogroup N1a1a1a1ab. The Koryaks are indicated in gray, the Chukchi in black.

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