Динамика частоты аллеля rs1815739-T "гена скорости" ACTN3 у древнего и современного населения Сибири

Abstract

Loss of the ACTN3 gene activity due to a stop codon at the rs1815739 locus (rs1815739-T or 577X allele) leads to the absence of α-actinin-3 in fast-twitch muscle fibers, which contributes to increased endurance and resistance to cold. These circumstances explain the observed increase in the frequency of the rs1815739-Tallele in Eurasian and American populations compared to that of Africa. However, the frequency of the rs1815739-T allele in the modern indigenous populations of Siberia is higher in the south than in the north of this region. In this study, the analysis of the frequency distribution of the rs1815739-T variant in ancient Siberians based on published paleogenomic data showed that the occurrence of this genetic variant was higher in ancient times compared to modern ones, especially in northeastern Siberia. It is suggested that one of the possible reasons for the frequency decrease of the ACTN3 gene rs1815739-T variant is the intensive admixture over the last centuries between the indigenous population of the Far North and the immigrant groups.