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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">vavilov</journal-id><journal-title-group><journal-title xml:lang="ru">Вавиловский журнал генетики и селекции</journal-title><trans-title-group xml:lang="en"><trans-title>Vavilov Journal of Genetics and Breeding</trans-title></trans-title-group></journal-title-group><issn pub-type="epub">2500-3259</issn><publisher><publisher-name>Institute of Cytology and Genetics of Siberian Branch of the RAS</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.18699/VJ19.529</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-2210</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>МЕДИЦИНСКАЯ ГЕНЕТИКА, НЕЙРОГЕНЕТИКА, ИММУНОГЕНЕТИКА, БИОМЕДИЦИНА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>POPULATION GENETICS</subject></subj-group></article-categories><title-group><article-title>Истоки митохондриального генофонда русских по результатам анализа современных и палеогеномных данных</article-title><trans-title-group xml:lang="en"><trans-title>Sources of the mitochondrial gene pool of Russians by the results of analysis of modern and paleogenomic data</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0304-0652</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Малярчук</surname><given-names>Б. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Malyarchuk</surname><given-names>B. A.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"/><email xlink:type="simple">malyarchuk@ibpn.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Институт биологических проблем Севера Дальневосточного отделения Российской академии наук<country>Россия</country></aff><aff xml:lang="en">Institute of Biological Problems of the North, FEB RAS<country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2019</year></pub-date><pub-date pub-type="epub"><day>23</day><month>08</month><year>2019</year></pub-date><volume>23</volume><issue>5</issue><fpage>588</fpage><lpage>593</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Малярчук Б.А., 2019</copyright-statement><copyright-year>2019</copyright-year><copyright-holder xml:lang="ru">Малярчук Б.А.</copyright-holder><copyright-holder xml:lang="en">Malyarchuk B.A.</copyright-holder><license license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://vavilov.elpub.ru/jour/article/view/2210">https://vavilov.elpub.ru/jour/article/view/2210</self-uri><abstract><p>Палеогеномные исследования последних лет показали, что на формирование генетического облика современных европейцев большое влияние оказали миграции населения Понто-Каспийских степей эпохи бронзового века с востока на запад Европы. Результаты исследований изменчивости митохондриальных геномов у современного русского населения Восточной Европы также позволили выявить рост эффективной численности популяций в эпоху бронзового века, что, по всей видимости, могло быть связано с миграционными процессами этого времени. В настоящей работе проанализированы данные об изменчивости целых митохондриальных геномов у современного русского населения в сравнении с распределением гаплогрупп мтДНК у древнего населения Европы и Кавказа эпохи неолита и бронзового века. Установлено, что формирование современной структуры митохондриального генофонда русских началось примерно 4 тыс. лет до н. э. в связи с притоком на восток Европы гаплотипов мтДНК, характерных для населения Центральной и Западной Европы. Предполагается, что миграции древнего населения Понто-Каспийских степей в западном направлении привели к формированию в Центральной Европе смешанных популяций, характеризующихся свойственными для западных и центральных европейцев митохондриальными гаплогруппами H, J, T, K, W. Дальнейшая экспансия этих популяций на восток Европы и далее в Азию объясняет появление у восточных европейцев новых черт митохондриального генофонда. Приведены результаты филогеографического анализа, показывающего, что особенности географического распределения подгрупп митохондриальной гаплогруппы R1a в Европе – это отражение «кавказского» компонента, появившегося в генофондах различных групп европейцев в ходе миграций бронзового века. О миграциях древних восточных европейцев в Азию (юг Сибири и Индийский субконтинент) свидетельствуют результаты филогеографического анализа митохондриальных гаплогрупп U2e2a1d, U4d2, N1a1a1a1, H2b, H8b1.</p></abstract><trans-abstract xml:lang="en"><p>Paleogenomic studies of recent years have shown that the Bronze Age migrations of populations of the PontoCaspian steppes from the east to the west of Europe had a great influence on the formation of the genetic makeup of modern Europeans. The results of studies of the variability of mitochondrial genomes in the modern Russian populations of Eastern Europe also made it possible to identify an increase in the effective population size during the Bronze Age, which, apparently, could be related to the migration processes of this time. This paper presents the results of analysis of data on the variability of entire mitochondrial genomes in the modern Russian populations in comparison with the distribution of mtDNA haplogroups in the ancient populations of Europe and the Caucasus of the Neolithic and Bronze Age. It was shown that the formation of the modern appearance of the Russian mitochondrial gene pool began approximately 4 thousand years B.C. due to the influx of mtDNA haplotypes characteristic of the population of Central and Western Europe to the east of Europe. It is assumed that the migrations of the ancient populations of the Ponto-Caspian steppes in the western direction led to the formation of mixed populations in Central Europe, bearing mitochondrial haplogroups H, J, T, K, W characteristic of Western and Central Europeans. Further expansion of these populations to the east of Europe and further to Asia explains the emergence of new features of the mitochondrial gene pool in Eastern Europeans. The results of a phylogeographic analysis are also presented, showing that the features of the geographical distribution of the subgroups of the mitochondrial haplogroup R1a in Europe are a reflection of the “Caucasian” component that appeared in the gene pools of various groups of Europeans during the migration of the Bronze Age. The results of phylogeographic analysis of mitochondrial haplogroups U2e2a1d, U4d2, N1a1a1a1, H2b, and H8b1 testify to the migrations of ancient Eastern Europeans to Asia – the south of Siberia and the Indian subcontinent.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>митохондриальный геном</kwd><kwd>популяции человека</kwd><kwd>Восточная Европа</kwd><kwd>палеогеномика</kwd><kwd>формирование генофонда</kwd></kwd-group><kwd-group xml:lang="en"><kwd>mitochondrial gene pool</kwd><kwd>human populations</kwd><kwd>Eastern Europe</kwd><kwd>paleogenomics</kwd><kwd>gene pool formation</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Джаубермезов М.А., Екомасова Н.В., Рейдла М., Литвинов С.С., Габидуллина Л.Р., Виллемс Р., Хуснутдинова Э.К. Генетическая характеристика балкарцев и карачаевцев по данным об изменчивости митохондриальной ДНК. Генетика. 2019;55(1):110-120. 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