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首页> 外文期刊>Russian journal of genetics >Signals of Positive Selection in Human Populations of Siberia and European Russia
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Signals of Positive Selection in Human Populations of Siberia and European Russia

机译:西伯利亚和欧洲人口人口正面选择的信号

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摘要

Human adaptation to extreme climatic and geographic conditions mediated by natural selection may be one of the major factors for formation of genetic structure in North Eurasian populations. Using data on a genome-wide set of single nucleotide polymorphisms (SNPs), we searched for the signals of positive selection in five populations of Siberia and the Russian European North. From 113 to 185 genomic regions with extended homozygous haplotypes blocks containing altogether 771 genes were found in each of the populations. Cross-population search of the selection targets resulted in about 150 genomic regions, 57 of which overlap with the results of haplotype analysis in individual populations. Genomic loci with the most profound signals of positive selection in northern populations include regions of SLC30A9, CACNA1C, KCNQ5, ABCA1, ALDH1A2, CSMD1, RBFOX1, and WWOX, as well as some other genes. Bioinformatics analysis demonstrated that major biological processes where selection targets are implicated are those conferring the response to external stimuli, including proteins, nutrients, and glucose, and defense reactions, including inflammatory immune response. The network of protein-protein interactions of genes under positive selection forms distinct clusters related to a number of biological processes indicated above. Results of the study indicate that non-neutral microevolution mechanisms may play a substantial role in genetic structuring of the human populations during long-term adaptation to unfavorable environmental conditions.
机译:人类适应自然选择介导的极端气候和地理条件可能是北欧亚人口遗传结构形成的主要因素之一。使用关于全基因组的单一核苷酸多态性(SNP)的数据,我们搜索了西伯利亚和俄罗斯欧洲北部的五个群体中阳性选择的信号。从113至185个基因组区域,在每个群体中发现含有完全771个基因的延伸纯合的单倍型嵌段。选择靶标的交叉口搜索导致约150个基因组区域,其中57个与个别群体中单倍型分析的结果重叠。基因组基因座具有北部种群中阳性选择的最深刻的信号,包括SLC30A9,CACNA1C,KCNQ5,ABCA1,ALDH1A2,CSMD1,RBFOX1和WWOX的区域,以及一些其他基因。生物信息学分析证明,涉及选择靶标的主要生物过程是赋予对外部刺激的反应的主要生物过程,包括蛋白质,营养素和葡萄糖,以及包括炎症免疫应答的防御反应。在阳性选择下基因的蛋白质 - 蛋白质相互作用形成与上述许多生物学过程相关的不同簇。研究结果表明,非中性微型测量机制可能在长期适应期间对人口的遗传结构中起着重要作用,以便在长期适应环境条件下。

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