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人类 、 、 、 和 群体中与心理情绪反应调节相关的 基因变体的正选择的基因组特征。

Genomic Signatures of Positive Selection in Human Populations of the , , , and Gene Variants Related to the Regulation of Psychoemotional Response.

机构信息

Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency (Centre for Strategic Planning of FMBA of Russia), Pogodinskaya Street, 10, Bld. 1, 119121 Moscow, Russia.

出版信息

Genes (Basel). 2023 Nov 8;14(11):2053. doi: 10.3390/genes14112053.

Abstract

The neurobiological systems of maintenance and control of behavioral responses result from natural selection. We have analyzed the selection signatures for single nucleotide variants (SNV) of the genes of oxytocin (, ) and vasopressin (, , ) systems, which are associated with the regulation of social and emotional behavior in distinct populations. The analysis was performed using original WGS (whole genome sequencing) data on Eastern Slavs (SlEast), as well as publicly available data from the 1000 Genomes Project on GBR, FIN, IBR, PUR, BEB, CHB, and ACB populations (the latter were taken as reference). To identify selection signatures, we rated the integrated haplotype scores (iHS), the numbers of segregating sites by length (nSl), and the integrated haplotype homozygosity pooled (iHH12) measures; the fixation index Fst was implemented to assess genetic differentiation between populations. We revealed that the strongest genetic differentiation of populations was found with respect to the gene, with the greatest differentiation observed in GRB (Fst = 0.316) and CHB (Fst = 0.325) in comparison to ACB. Also, high Fst values were found for SNVs of the gene rs28499431, rs33940624, rs28477649, rs3883899, and rs28452187 in most of the populations. Selection signatures have also been identified in the , , , and genes. Our analysis shows that the , , , , and genes were subject to positive selection in a population-specific process, which was likely contributing to the diversity of adaptive emotional response types and social function realizations.

摘要

维持和控制行为反应的神经生物学系统是自然选择的结果。我们分析了与不同人群的社会和情绪行为调节相关的催产素(、)和血管加压素(、、)系统基因的单核苷酸变异(SNV)的选择特征。分析使用了对东欧斯拉夫人(SlEast)的原始 WGS(全基因组测序)数据以及来自 1000 基因组计划的 GBR、FIN、IBR、PUR、BEB、CHB 和 ACB 人群的公开可用数据(后者作为参考)进行。为了识别选择特征,我们评估了综合单倍型得分(iHS)、按长度分离的核苷酸数量(nSl)和综合单倍型同质性总和(iHH12)指标;实施固定指数 Fst 来评估种群之间的遗传分化。我们发现,种群之间的最强遗传分化是在 基因方面,与 ACB 相比,GRB(Fst = 0.316)和 CHB(Fst = 0.325)的分化最大。此外,在大多数人群中,基因的 rs28499431、rs33940624、rs28477649、rs3883899 和 rs28452187 的 SNV 也发现了高 Fst 值。在 、、、和 基因中也鉴定到了选择特征。我们的分析表明,在特定人群的过程中,、、、、和 基因受到了正选择,这可能有助于适应情绪反应类型和社会功能实现的多样性。

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