Kolesnikov N A, Kharkov V N, Vagaitseva K V, Zarubin A A, Stepanov V A
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
Vavilovskii Zhurnal Genet Selektsii. 2023 Mar;27(1):55-62. doi: 10.18699/VJGB-23-08.
The gene pool of the indigenous population of Siberia is a unique system for studying population and evolutionary genetic processes, analyzing genetic diversity, and reconstructing the genetic history of populations. High ethnic diversity is a feature of Siberia, as one of the regions of the peripheral settlement of modern human. The vast expanses of this region and the small number of aboriginal populations contributed to the formation of significant territorial and genetic subdivision. About 40 indigenous peoples are settled on the territory of the Siberian historical and ethnographic province. Within the framework of this work, a large-scale population study of the gene pool of the indigenous peoples of Siberia was carried out for the first time at the level of high-density biochips. This makes it possible to fill in a significant gap in the genogeographic picture of the Eurasian population. For this, DNA fragments were analyzed, which had been inherited without recombination by each pair of individuals from their recent common ancestor, that is, segments (blocks) identical by descent (IBD). The distribution of IBD blocks in the populations of Siberia is in good agreement with the geographical proximity of the populations and their linguistic affiliation. Among the Siberian populations, the Chukchi, Koryaks, and Nivkhs form a separate cluster from the main Siberian group, with the Chukchi and Koryaks being more closely related. Separate subclusters of Evenks and Yakuts, Kets and Chulyms are formed within the Siberian cluster. Analysis of SNPs that fell into more IBD segments of the analyzed populations made it possible to compile a list of 5358 genes. According to the calculation results, biological processes enriched with these genes are associated with the detection of a chemical stimulus involved in the sensory perception of smell. Enriched for the genes found, molecular pathways are associated with the metabolism of linoleic, arachidonic, tyrosic acids and by olfactory transduction. At the same time, an analysis of the literature data showed that some of the selected genes, which were found in a larger number of IBD blocks in several populations at once, can play a role in genetic adaptation to environmental factors.
西伯利亚原住民的基因库是一个独特的系统，用于研究种群和进化遗传过程、分析遗传多样性以及重构种群的遗传历史。高民族多样性是西伯利亚的一个特征，它是现代人类周边定居区域之一。该地区幅员辽阔，原住民人口数量较少，这促成了显著的地域和遗传细分的形成。约40个原住民群体居住在西伯利亚历史民族志省份的区域内。在这项工作的框架下，首次在高密度生物芯片水平上对西伯利亚原住民的基因库进行了大规模的群体研究。这使得填补欧亚种群基因地理图谱中的重大空白成为可能。为此，分析了DNA片段，这些片段是每对个体从其最近的共同祖先那里无重组遗传而来的，即同源片段（IBD）。IBD片段在西伯利亚各群体中的分布与群体的地理邻近性及其语言归属高度吻合。在西伯利亚各群体中，楚科奇人、科里亚克人和尼夫赫人形成了一个与主要西伯利亚群体不同的单独聚类，其中楚科奇人和科里亚克人关系更为密切。在西伯利亚聚类中形成了埃文基人和雅库特人、凯特人和丘利姆人的单独子聚类。对落入所分析群体更多IBD片段的单核苷酸多态性（SNP）进行分析，从而编制了一份包含5358个基因的列表。根据计算结果，富含这些基因的生物学过程与嗅觉感官感知中涉及的化学刺激检测相关。所发现基因富集的分子途径与亚油酸、花生四烯酸、酪氨酸的代谢以及嗅觉转导相关。同时，对文献数据的分析表明，一些在多个群体的大量IBD块中同时被发现的选定基因，可能在对环境因素的遗传适应中发挥作用。
