Полиморфизм локуса rs4264393 гена PRDM7 в популяциях коренного населения Сибири: возможная связь с особенностями пигментации кожи в условиях Крайнего Севера

The rs4264393-G allele of the PRDM7 gene belongs to the polymorphic variants very frequent only in indigenous populations of northeastern Siberia: in Eskimos, Chukchi, and Koryaks, its frequency is 64 %. The results of the paleogenomic data analysis suggest that the rs4264393-G variant was present in the north of modern Yakutia (Duvannyi Yar site) about 10 thousand years ago and probably appeared in Northeast Asia even earlier, during the presumed migrations of East Asian populations (20-18 thousand years ago), which mixed with the Upper Paleolithic groups of North Siberia and gave rise to the ancestors of Paleosiberian populations and Amerindians. The PRDM7 gene encodes for a methyltransferase, involved in histone modification, and appears to be an active regulator of gene activity in melanocytes. The findings are discussed in connection with the peculiarities of Eskimo and Paleo-Asiatic skin pigmentation and the possibility that the rs4264393-G variant of the PRDM7 gene may be involved in the evolution of the Arctic peoples pigmentation system.