Mitochondrial genome polymorphism in the East Slavic population of Northeastern Siberia

Abstract

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). Keywords: mitochondrial genome, genetic polymorphism, molecular phylogeography, Eastern Slavs, Northeastern Siberia