vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/VJGB-23-06vavilov-3630Research ArticleМЕДИЦИНСКАЯ ГЕНЕТИКА, НЕЙРОГЕНЕТИКА, ИММУНОГЕНЕТИКА, БИОМЕДИЦИНАPOPULATION GENETICSСтруктура и происхождение генофонда тувинцев по данным аутосомных SNP и гаплогрупп Y-хромосомыStructure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroupshttps://orcid.org/0000-0002-5166-331XСтепановВ. А.StepanovV. A.

Томск

Tomsk

https://orcid.org/0000-0001-8855-577XКолесниковН. А.KolesnikovN. A.

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Tomsk

ВалиховаЛ. В.ValikhovaL. V.

Томск

Tomsk

https://orcid.org/0000-0001-6568-6339ЗарубинА. А.ZarubinA. A.

Томск

Tomsk

ХитринскаяИ. Ю.KhitrinskayaI. Yu.

Томск

Tomsk

https://orcid.org/0000-0002-1679-2212ХарьковВ. Н.KharkovV. N.

Томск

Tomsk

Vladimir-kharkov@medgenetics.ruНаучно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наукРоссияResearch Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of SciencesRussian Federation2023060320232713645Copyright © Степанов В.А., Колесников Н.А., Валихова Л.В., Зарубин А.А., Хитринская И.Ю., Харьков В.Н., 20232023Степанов В.А., Колесников Н.А., Валихова Л.В., Зарубин А.А., Хитринская И.Ю., Харьков В.Н.Stepanov V.A., Kolesnikov N.A., Valikhova L.V., Zarubin A.A., Khitrinskaya I.Y., Kharkov V.N.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/3630

Тувинцы – один из наиболее компактно проживающих народов Южной Сибири, расселенный в основном на территории Тывы. Генофонд тувинцев является достаточно обособленным за счет эндогамии и очень низкой частоты межнациональных браков. Исследована структура генофонда тувинцев и других сибирских популяций по полногеномной панели аутосомных однонуклеотидных полиморфных маркеров и маркерам Y-хромосомы. Результаты анализа частот аутосомных SNP различными методами, сходства по составу гаплогрупп Y-хромосомы и YSTR-гаплотипов показывают, что генофонд тувинцев очень гетерогенен по составу генетических компонентов. Он включает в себя древний автохтонный енисейский компонент, доминирующий у чулымских тюрков и кетов, восточносибирский, преобладающий у якутов и эвенков, и дальневосточный, частота которого максимальна у нивхов и удэгейцев. Анализ состава IBD-блоков на аутосомах демонстрирует максимальное генетическое родство тувинцев с южными алтайцами, хакасами и шорцами, которые формировались при расселении тюркских групп популяций на территории Алтае-Саянского региона. Выявлен очень разнообразный состав генофонда тувинцев по различным сублиниям Y-хромосомных гаплогрупп, большинство из которых показывают сильную этническую специфичность. Филогенетический анализ отдельных Y-хромосомных гаплогрупп демонстрирует максимальную близость генофонда тувинцев с алтайцами, хакасами и шорцами. Внутри тувинского этноса обнаружены значительные различия между выборками из западных, южных и восточных районов Тывы по доле монгольского и енисейского генетических компонентов. Генетическое разнообразие тувинцев по Y-хромосомным гаплогруппам и максимально разнородный состав генетических компонентов свидетельствуют о самом высоком разнообразии тувинского генофонда по сравнению со всеми коренными народами Сибири. Обнаружены различия по частотам гаплогрупп Y-хромосомы между тоджинцами и тувинцами и изменение частот гаплогрупп с юга на север, связанных с восточноазиатским компонентом. Большинство наиболее частых гаплогрупп Y-хромосомы у тувинцев демонстрирует эффект основателя, возраст формирования которых полностью согласуется с данными об их этногенезе.

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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The authors declare that there are no conflicts of interest present.