vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/vjgb-26-75vavilov-5228Research ArticleГЕНЕТИКА ЧЕЛОВЕКАHUMAN GENETICSФилогеографический анализ полиморфизма митохондриальных геномов шорцевPhylogeographic analysis of mitochondrial genome polymorphism in the ShorsМалярчукБ. А.MalyarchukB. A.

Магадан

Magadan

malbor@mail.ruДенисоваГ. А.DenisovaG. A.

Магадан

Magadan

ЛитвиновА. Н.LitvinovA. N.

Магадан

Magadan

ПохилюкН. В.PokhilyukN. V.

Магадан

Magadan

Институт биологических проблем Севера Дальневосточного отделения Российской академии наукРоссияInstitute of Biological Problems of the North of the Far Eastern Branch of the Russian Academy of SciencesRussian Federation202626082026305747754Copyright © Малярчук Б.А., Денисова Г.А., Литвинов А.Н., Похилюк Н.В., 20262026Малярчук Б.А., Денисова Г.А., Литвинов А.Н., Похилюк Н.В.Malyarchuk B.A., Denisova G.A., Litvinov A.N., Pokhilyuk N.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/5228

Получены данные об изменчивости нуклеотидных последовательностей целых митохондриальных геномов у шорцев – тюркоязычного народа Алтае-Саянского региона. У шорцев выявлен высокий уровень нуклеотидного разнообразия, обусловленный наличием в генофонде двух компонентов восточно- и западно-евразийского происхождения (79.5 и 20.5 % соответственно). При этом отмечен относительно низкий (в масштабах Сибири) уровень разнообразия гаплотипов мтДНК, что связано с высокой распространенностью у шорцев некоторых одинаковых митохондриальных гаплотипов. Результаты многомерного шкалирования межпопуляционных генетических дистанций свидетельствуют о том, что шорцы занимают промежуточное положение между этническими группами Восточной Азии и коренными народами Восточной Сибири. Исследование полиморфизма целых митохондриальных геномов у индивидуумов, характеризующихся одинаковым гаплотипом гипервариабельного сегмента 1, который относится к гаплогруппе F1b1 и обнаружен у ~37 % шорцев, позволило определить 6 гаплотипов мтДНК, принадлежащих к гаплогруппам F1b1-b1 и F1b1-b2. Результаты филогеографического анализа показали, что особенностью митохондриального генофонда шорцев является высокая частота (65.9 %) гаплогрупп мтДНК, которые распространены исключительно в популяциях Алтае-Саянского региона: A-a1c1a, B4b1a3a1a, C4a1a4a1a, C4e, C5c*, D4b1a2a1a, D4m2a2, D5c1a2b, F1b1-b1, F1b1-b2, F2b1b1, H8b1a. Эволюционный возраст этих гаплогрупп мтДНК согласно результатам молекулярного датирования варьирует от 0.9 до 5.0 тыс. лет. Все указанные выше гаплогруппы мтДНК восточноазиатские по происхождению, за исключением западно-евразийской H8b1a. Обособленному развитию митохондриальных гаплогрупп, специфичных для народов Алтае-Саянского региона, возможно, способствовала изоляция от восточноазиатских соседей, вызванная формированием афанасьевского населения в эпоху бронзового века в результате смешения популяций коренных жителей региона и мигрантов – представителей ямной культурно-исторической общности, существовавшей в Приуралье и Поволжье. В условиях отсутствия интенсивного притока дополнительных восточноазиатских гаплотипов мтДНК в течение нескольких тысяч лет в популяциях Алтае-Саянского региона, по всей видимости, произошла диверсификация уже имевшихся генетических линий восточноазиатского происхождения. 

The variability of nucleotide sequences of complete mitochondrial genomes in the Shors, a Turkic-speaking people from the Altai–Sayan region, was studied. The Shors exhibit a high level of nucleotide diversity due to the presence of two components of the East and West Eurasian origin in their gene pool (79.5 and 20.5 %, respectively). However, a relatively low level of mtDNA haplotype diversity was found among the Shors, which is associated with the high prevalence of certain identical mitochondrial haplotypes. Multidimensional scaling of interpopulation genetic distances indicates that the Shors fall in between East Asian ethnic groups and indigenous East Siberian peoples. By examining the polymorphism of whole mitochondrial genomes in individuals with the same hypervariable segment 1 haplotype belonging to haplogroup F1b1, found in ~37 % of the Shors, we identified six mtDNA haplotypes belonging to haplogroups F1b1-b1 and F1b1-b2. Phylogeographic analysis shows that the Shor mitochondrial gene pool is characterized by a high frequency (65.9 %) of mtDNA haplogroups found solely in the Altai–Sayan region: A-a1c1a, B4b1a3a1a, C4a1a4a1a, C4e, C5c*, D4b1a2a1a, D4m2a2, D5c1a2b, F1b1-b1, F1b1-b2, F2b1b1, and H8b1a. According to molecular dating results, the evolutionary age of these mtDNA haplogroups varies from 0.9 to 5.0 thousand years. All of the mtDNA haplogroups listed are of East Asian origin, except for the West Eurasian H8b1a. The isolated evolution of mitochondrial haplogroups specific to the peoples of the Altai–Sayan region is assumed to have been facilitated by their isolation from East Asian neighbors. This isolation occurred during the Bronze Age, when the Afanasyevo culture formed as a result of the mixing of indigenous populations and migrants – representatives of the Yamnaya culture, which existed in the Urals and Volga regions. In the absence of a significant influx of additional East Asian mtDNA haplotypes to the populations of the Altai–Sayan region over several thousand years, it appears that existing genetic lineages of East Asian origin diversified.

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