vavilovВавиловский журнал генетики и селекцииVavilov Journal of Genetics and Breeding2500-3259Institute of Cytology and Genetics of Siberian Branch of the RAS10.18699/vjgb-25-77vavilov-4759Research ArticleПОПУЛЯЦИОННАЯ ГЕНЕТИКА ЧЕЛОВЕКАHUMAN POPULATION GENETICSПолиморфизм митохондриальных геномов у восточнославянского населения Северо-Востока СибириMitochondrial genome polymorphism in the East Slavic population of Northeastern Siberiahttps://orcid.org/0000-0002-0304-0652МалярчукБ. А.MalyarchukB. A.

Магадан

Magadan

malbor@mail.ruhttps://orcid.org/0000-0003-3364-7399ДенисоваГ. А.DenisovaG. A.

Магадан

Magadan

https://orcid.org/0000-0003-3107-1955ЛитвиновА. Н.LitvinovA. N.

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 Federation202504092025295704710Copyright © Малярчук Б.А., Денисова Г.А., Литвинов А.Н., 20252025Малярчук Б.А., Денисова Г.А., Литвинов А.Н.Malyarchuk B.A., Denisova G.A., Litvinov A.N.This work is licensed under a Creative Commons Attribution 4.0 License.https://vavilov.elpub.ru/jour/article/view/4759

   Информация о полиморфизме митохондриальной ДНК (мтДНК) на популяционном уровне вызывает большой интерес со стороны исследователей в области популяционной и этнической генетики, cудебной медицины и криминалистики. В настоящей работе получены данные об изменчивости целых митохондриальных геномов у пришлого восточнославянского населения Северо-Востока Сибири (на примере Магаданской области), а также новые сведения об изменчивости мтДНК у жителей Магаданской области – русских (N = 49) и украинцев (N = 15) – по материнской линии, а также метисного происхождения – русских по материнской линии и коренных жителей (коряки, эвены, ительмены) по отцовской линии (N = 4). Кроме этого, для повышения информативности филогеографического анализа секвенированы митогеномы русских Новгородской, Калужской и Ярославской областей (N = 15). Результаты проведенного исследования показали, что митохондриальный генофонд пришлого восточнославянского населения Магаданской области характеризуется высоким уровнем генетического разнообразия. Результаты анализа генетической дифференциации популяций русского населения России по данным об изменчивости целых митохондриальных геномов свидетельствуют о низком уровне межпопуляционных различий (Fst = 0.15 %, P = 0.2). По результатам многомерного шкалирования Fst-дистанций русские Магаданской области кластеризуются с русскими юго-западной части страны – популяциями Белгородской и Орловской областей. В генофонде русского населения Магаданской области преобладают гаплотипы мтДНК западноевразийского (включая европейское) происхождения. Доля гаплотипов восточноазиатского происхождения у русских невелика (4.8 %), однако часть из них (гаплогруппы F1b1 и Z1a1a), согласно результатам филогеографического анализа, длительное время эволюционировала в генофондах популяций Восточной Европы. Среди европейских по происхождению гаплотипов мтДНК у магаданских русских преобладают восточноевропейские варианты, а также у них высока доля гаплотипов мтДНК, специфичных для славян (19.4 %). В митохондриальных генофондах русских и украинцев Магаданской области обнаружены редкие гаплотипы, родственные материнским линиям императрицы Александры Федоровны Романовой (гаплогруппа H1af2) и князя Дмитрия, сына князя Александра Невского (гаплогруппа F1b1-a3a2a).

   Data on mitochondrial DNA (mtDNA) polymorphism at the population level are of significant interest to researchers in the fields of population and ethnic genetics, forensic medicine, and forensic science. In the present study, we have obtained data on the variability of whole mitochondrial genomes in the immigrant East Slavic population of Northeastern Siberia (using the Magadan region as an example). The study yielded novel data concerning mtDNA variability in the Magadan region’s inhabitants comprising maternal lineages of Russians (N = 49) and Ukrainians (N = 15), as well as individuals with a mixture of maternal and paternal ancestries, including Russians on the maternal side and indigenous populations (Koryaks, Evenes, and Itelmens) on the paternal side (N = 4). In addition, the mitogenomes of the Russian population from the Novgorod, Kaluga, and Yaroslavl regions (N = 15) were sequenced to enhance the power of the phylogeographic analysis. The results of the study demonstrated that the mitochondrial gene pool of the East Slavic immigrant population in the Magadan region is characterized by a high level of diversity. The analysis of genetic differentiation of Russian populations within Russia, as measured by the variability of complete mitochondrial genomes, revealed a low level of interpopulation differences (Fst = 0.15 %, P = 0.2). The results of multidimensional scaling of Fst distances indicate that the Russians residing in the Magadan region are genetically similar to the Russian populations inhabiting the southwestern part of the country, specifically the Belgorod and Orel regions. The gene pool of the Russian population in the Magadan region is predominantly characterized by mtDNA haplotypes of West Eurasian (including European) origin. The prevalence of East Asian-derived haplotypes among the Russian population is relatively low, accounting for approximately 4.8 % of the total. However, certain East Asian-specific haplogroups, such as F1b1 and Z1a1a, have demonstrated a prolonged presence in the gene pools of Eastern European populations, as evidenced by phylogeographic analysis. Among the European mtDNA haplotypes of Russians from the Magadan region, Eastern European variants predominate, and they also have a high proportion of mtDNA haplotypes specific to Slavs (19.4 %). Furthermore, rare mtDNA haplotypes have been identified in the mitochondrial gene pools of Russians and Ukrainians residing in the Magadan region. These rare haplotypes are linked to the maternal lines of Empress Alexandra Fedorovna Romanova (haplogroup H1af2) and Prince Dmitry, son of Prince Alexander Nevsky (haplogroup F1b1-a3a2a).

митохондриальный геномгенетический полиморфизммолекулярная филогеографиявосточные славянеСеверо-Восток Сибириmitochondrial genomegenetic polymorphismmolecular phylogeographyEastern SlavsNortheastern SiberiaReferencesAgdzhoyan A.T., Bogunova А.А., Kamenshchikova E.N., Zapo­rozhchenko V.V., Bogunov Y.V., Balanovsky O.P., Balanovska E.V. The Chukchi of Kamchatka: a genetic portrait based on the wide array of Y-chromosome markers. Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia = Moscow University Anthropology Bulletin. 2021;1:80-92. doi: 10.32521/2074-8132.2021.1.080-092 (in Russian)Agdzhoyan A.T., Bogunova А.А., Kamenshchikova E.N., Zapo­rozhchenko V.V., Bogunov Y.V., Balanovsky O.P., Balanovska E.V. The Chukchi of Kamchatka: a genetic portrait based on the wide array of Y-chromosome markers. Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia = Moscow University Anthropology Bulletin. 2021;1:80-92. doi: 10.32521/2074-8132.2021.1.080-092 (in Russian)Balanovska E.V., Bogunov Y.V., Bogunova A.A., Kamenshchikova E.N., Pylev V.Y., Bychkovskaya L.S., Balanovsky O.P., Lavryashina M.B. Demographic portrait of Koryaks from Northern Kamchatka. Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia = Moscow University Anthropology Bulletin. 2020;4:111-122. doi: 10.32521/2074-8132.2020.4.111-122 (in Russian)Balanovska E.V., Bogunov Y.V., Bogunova A.A., Kamenshchikova E.N., Pylev V.Y., Bychkovskaya L.S., Balanovsky O.P., Lavryashina M.B. Demographic portrait of Koryaks from Northern Kamchatka. Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia = Moscow University Anthropology Bulletin. 2020;4:111-122. doi: 10.32521/2074-8132.2020.4.111-122 (in Russian)Borisova T.V., Solovyev A.V., Romanov G.P., Teryutin F.M., Pshennikova V.G., Barashkov N.A., Fedorova S.A. Analysis of the mitochondrial gene pool structure of Russian old-settlers of the Arctic coast of Yakutia from village Russkoye Usty’e. Russ J Genet. 2024; 60(11):1538-1547. doi: 10.1134/S1022795424701096Borisova T.V., Solovyev A.V., Romanov G.P., Teryutin F.M., Pshennikova V.G., Barashkov N.A., Fedorova S.A. Analysis of the mitochondrial gene pool structure of Russian old-settlers of the Arctic coast of Yakutia from village Russkoye Usty’e. Russ J Genet. 2024; 60(11):1538-1547. doi: 10.1134/S1022795424701096Derenko M.V., Malyarchuk B.A. Comparative analysis of RFLP of mitochondrial DNA from Eastern Slavic populations in Russia. Genetika. 1996;32(6):815-821 (in Russian)Derenko M.V., Malyarchuk B.A. Comparative analysis of RFLP of mitochondrial DNA from Eastern Slavic populations in Russia. Genetika. 1996;32(6):815-821 (in Russian)Derenko M.V., Malyarchuk B.A. Molecular Phylogeography of Populations of Northern Eurasia Based on Mitochondrial DNA Variability Data. Magadan: NESC FEB RAS, 2010 (in Russian)Derenko M.V., Malyarchuk B.A. Molecular Phylogeography of Populations of Northern Eurasia Based on Mitochondrial DNA Variability Data. Magadan: NESC FEB RAS, 2010 (in Russian)Derenko M., Denisova G., Litvinov A., Dambueva I., Malyarchuk B. Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk. J Hum Genet. 2023;68(10):705-712. doi: 10.1038/s10038-023-01173-xDerenko M., Denisova G., Litvinov A., Dambueva I., Malyarchuk B. Mitogenomics of the Koryaks and Evens of the northern coast of the Sea of Okhotsk. J Hum Genet. 2023;68(10):705-712. doi: 10.1038/s10038-023-01173-xExcoffier L., Lischer H.E. Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Resour. 2010;10(3):564-567. doi: 10.1111/j.1755-0998.2010.02847.xExcoffier L., Lischer H.E. Arlequin suite ver 3.5: a new series of programs to perform population genetics analyses under Linux and Windows. Mol Ecol Resour. 2010;10(3):564-567. doi: 10.1111/j.1755-0998.2010.02847.xGubina M.A., Babenko V.N., Damba L.D., Ponomareva M.N., Konovalova N.A., Voevoda M.I. Polymorphism of mitochondrial DNA in Old Believers from Siberia. Russ J Genet. 2014;50(6):638-652. doi: 10.1134/S1022795414060040Gubina M.A., Babenko V.N., Damba L.D., Ponomareva M.N., Konovalova N.A., Voevoda M.I. Polymorphism of mitochondrial DNA in Old Believers from Siberia. Russ J Genet. 2014;50(6):638-652. doi: 10.1134/S1022795414060040Ingman M., Gyllensten U. A recent genetic link between Sami and the Volga-Ural region of Russia. Eur J Hum Genet. 2007;15:115-120. doi: 10.1038/sj.ejhg.5201712Ingman M., Gyllensten U. A recent genetic link between Sami and the Volga-Ural region of Russia. Eur J Hum Genet. 2007;15:115-120. doi: 10.1038/sj.ejhg.5201712Kazakovtseva M.A., Voevoda M.I., Babenko V.N., Osipova L.P. Restriction-site polymorphism of the mitochondrial DNA control region in populations of Russian Old Believers and migrant Slavic populations in Northern Siberia. Russ J Genet. 1998;34(4): 439-444Kazakovtseva M.A., Voevoda M.I., Babenko V.N., Osipova L.P. Restriction-site polymorphism of the mitochondrial DNA control region in populations of Russian Old Believers and migrant Slavic populations in Northern Siberia. Russ J Genet. 1998;34(4): 439-444Kushniarevich A., Utevska O., Chuhryaeva M., Agdzhoyan A., Dibirova K., Uktveryte I., Möls M., … Balanovska E., Metspalu M., Kivisild T., Villems R., Balanovsky O. Genetic heritage of the Balto-Slavic speaking populations: a synthesis of autosomal, mitochondrial and Y-chromosomal data. PLoS One. 2015;10(9):e0135820. doi: 10.1371/journal.pone.0135820Kushniarevich A., Utevska O., Chuhryaeva M., Agdzhoyan A., Dibirova K., Uktveryte I., Möls M., … Balanovska E., Metspalu M., Kivisild T., Villems R., Balanovsky O. Genetic heritage of the Balto-Slavic speaking populations: a synthesis of autosomal, mitochondrial and Y-chromosomal data. PLoS One. 2015;10(9):e0135820. doi: 10.1371/journal.pone.0135820Lemza S.V., Sokolova O.V. Restriction polymorphism of mitochondrial DNA among the Russian population of Western Siberia. Genetika = Genetics (Moscow). 1992;28(5):136-140 (in Russian)Lemza S.V., Sokolova O.V. Restriction polymorphism of mitochondrial DNA among the Russian population of Western Siberia. Genetika = Genetics (Moscow). 1992;28(5):136-140 (in Russian)Librado P., Rozas J. DnaSP v5: a software for comprehensive analysis of DNA polymorphism data. Bioinformatics. 2009;25(11):1451-1452. doi: 10.1093/bioinformatics/btp187Librado P., Rozas J. DnaSP v5: a software for comprehensive analysis of DNA polymorphism data. Bioinformatics. 2009;25(11):1451-1452. doi: 10.1093/bioinformatics/btp187Litvinov A.N., Malyarchuk B.A., Derenko M.V. The nature of the molecular evolution of the mitochondrial genomes of the Russian population of East Europe. Vestnik Severo-­Vostochnogo Nauchnogo Centra DVO RAN = The Bulletin of the North-­East Scientific Center FEB RAS. 2020;2:107-113. doi: 10.34078/1814-0998-2020-2-107-113 (in Russian)Litvinov A.N., Malyarchuk B.A., Derenko M.V. The nature of the molecular evolution of the mitochondrial genomes of the Russian population of East Europe. Vestnik Severo-­Vostochnogo Nauchnogo Centra DVO RAN = The Bulletin of the North-­East Scientific Center FEB RAS. 2020;2:107-113. doi: 10.34078/1814-0998-2020-2-107-113 (in Russian)Lunkina A.V., Denisova G.A., Derenko M.V., Malyarchuk B.A. Mitochondrial DNA variation in two Russian populations from Novgorod oblast. Russ J Genet. 2004;40(7):795-799. doi: 10.1023/B:RUGE.0000036530.09850.70Lunkina A.V., Denisova G.A., Derenko M.V., Malyarchuk B.A. Mitochondrial DNA variation in two Russian populations from Novgorod oblast. Russ J Genet. 2004;40(7):795-799. doi: 10.1023/B:RUGE.0000036530.09850.70Malyarchuk B.A., Derenko M.V. Mitochondrial gene pool of Ukrainians in the context of variability of whole mitogenomes in Slavic peoples. Russ J Genet. 2023;59(1):88-96. doi: 10.1134/S1022795423010088Malyarchuk B.A., Derenko M.V. Mitochondrial gene pool of Ukrainians in the context of variability of whole mitogenomes in Slavic peoples. Russ J Genet. 2023;59(1):88-96. doi: 10.1134/S1022795423010088Malyarchuk B.A., Derenko M.V. Genetic history of the Koryaks and Evens of the Magadan region based on Y-chromosome polymorphism data. Vavilovskii Zhurnal Genetiki i Selektsii = Vavilov J Genet Breed. 2024;28(1):90-97. doi: 10.18699/vjgb-24-11Malyarchuk B.A., Derenko M.V. Genetic history of the Koryaks and Evens of the Magadan region based on Y-chromosome polymorphism data. Vavilovskii Zhurnal Genetiki i Selektsii = Vavilov J Genet Breed. 2024;28(1):90-97. doi: 10.18699/vjgb-24-11Malyarchuk B.A., Lapinsky A.G., Balmysheva N.P., Butorina O.T., Solovenchuk L.L. RFLP of mitochondrial DNA in the population of Magadan city. Genetika = Genetics (Moscow). 1994;30(1):112-114 (in Russian)Malyarchuk B.A., Lapinsky A.G., Balmysheva N.P., Butorina O.T., Solovenchuk L.L. RFLP of mitochondrial DNA in the population of Magadan city. Genetika = Genetics (Moscow). 1994;30(1):112-114 (in Russian)Malyarchuk B., Litvinov A., Derenko M., Skonieczna K., Grzybowski T., Grosheva A., Shneider Y., Rychkov S., Zhukova O. Mitogenomic diversity in Russians and Poles. Forensic Sci Int Genet. 2017;30:51-56. doi: 10.1016/j.fsigen.2017.06.003Malyarchuk B., Litvinov A., Derenko M., Skonieczna K., Grzybowski T., Grosheva A., Shneider Y., Rychkov S., Zhukova O. Mitogenomic diversity in Russians and Poles. Forensic Sci Int Genet. 2017;30:51-56. doi: 10.1016/j.fsigen.2017.06.003Morozova I., Evsyukov A., Kon’kov A., Grosheva A., Zhukova O., Rychkov S. Russian ethnic history inferred from mitochondrial DNA diversity. Am J Phys Anthropol. 2012;147(3):341-351. doi: 10.1002/ajpa.21649Morozova I., Evsyukov A., Kon’kov A., Grosheva A., Zhukova O., Rychkov S. Russian ethnic history inferred from mitochondrial DNA diversity. Am J Phys Anthropol. 2012;147(3):341-351. doi: 10.1002/ajpa.21649Soares P., Ermini L., Thomson N., Mormina M., Rito T., Röhl A., Salas A., Oppenheimer S., Macaulay V., Richards M.B. Correcting for purifying selection: an improved human mitochondrial molecular clock. Am J Hum Genet. 2009;84(6):740-759. doi: 10.1016/j.ajhg.2009.05.001Soares P., Ermini L., Thomson N., Mormina M., Rito T., Röhl A., Salas A., Oppenheimer S., Macaulay V., Richards M.B. Correcting for purifying selection: an improved human mitochondrial molecular clock. Am J Hum Genet. 2009;84(6):740-759. doi: 10.1016/j.ajhg.2009.05.001Solovyev A.V., Borisova T.V., Romanov G.P., Teryutin F.M., Pshennikova V.G., Nikitina S.E., Alekseev A.N., Barashkov N.A., Fedorova S.A. Genetic history of Russian Old-Settlers of the Arctic coast of Yakutia from the settlement of Russkoye Ust’ye inferred from Y chromosome data and genome-wide analysis. Russ J Genet. 2023; 59(9):949-955. doi: 10.1134/S1022795423090119Solovyev A.V., Borisova T.V., Romanov G.P., Teryutin F.M., Pshennikova V.G., Nikitina S.E., Alekseev A.N., Barashkov N.A., Fedorova S.A. Genetic history of Russian Old-Settlers of the Arctic coast of Yakutia from the settlement of Russkoye Ust’ye inferred from Y chromosome data and genome-wide analysis. Russ J Genet. 2023; 59(9):949-955. doi: 10.1134/S1022795423090119Sukernik R.I., Volod’ko N.V., Mazunin I.O., Eltsov N.P., Starikovskaya E.B. The genetic history of Russian old settlers of polar north-eastern Siberia. Russ J Genet. 2010;46(11):1386-1394. doi: 10.1134/S1022795410110153Sukernik R.I., Volod’ko N.V., Mazunin I.O., Eltsov N.P., Starikovskaya E.B. The genetic history of Russian old settlers of polar north-eastern Siberia. Russ J Genet. 2010;46(11):1386-1394. doi: 10.1134/S1022795410110153Tambets K., Rootsi S., Kivisild T., Help H., Serk P., Loogväli E.L., Tolk H.V., … Ferák V., Füredi S., Komel R., Beckman L., Villems R. The western and eastern roots of the Saami – the story of genetic “outliers” told by mitochondrial DNA and Y chromosomes. Am J Hum Genet. 2004;74(4):661-682. doi: 10.1086/383203Tambets K., Rootsi S., Kivisild T., Help H., Serk P., Loogväli E.L., Tolk H.V., … Ferák V., Füredi S., Komel R., Beckman L., Villems R. The western and eastern roots of the Saami – the story of genetic “outliers” told by mitochondrial DNA and Y chromosomes. Am J Hum Genet. 2004;74(4):661-682. doi: 10.1086/383203Zhur K.V., Sharko F.S., Sedov V.V., Dobrovolskaya M.V., Volkov V.G., Maksimov N.G., Seslavine A.N., Makarov N.A., Prokhortchouk E.B. The Rurikids: the first experience of reconstructing the genetic portrait of the ruling family of Medieval Rus’ based on paleogenomic data. Acta Naturae. 2023;15(3):50-65. doi: 10.32607/actanaturae.23425Zhur K.V., Sharko F.S., Sedov V.V., Dobrovolskaya M.V., Volkov V.G., Maksimov N.G., Seslavine A.N., Makarov N.A., Prokhortchouk E.B. The Rurikids: the first experience of reconstructing the genetic portrait of the ruling family of Medieval Rus’ based on paleogenomic data. Acta Naturae. 2023;15(3):50-65. doi: 10.32607/actanaturae.23425

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