Genomic Signatures of Positive Selection in Human Populations of the OXT , OXTR , AVP , AVPR1A and AVR1B Gene Variants Related to the Regulation of Psychoemotional Response

• Published in: Genes Vol. 14; no. 11; p. 2053
• Main Authors: Bakoev, Siroj Yu, Korobeinikova, Anna V, Mishina, Arina I, Kabieva, Shuanat Sh, Mitrofanov, Sergey I, Ivashechkin, Alexey A, Akinshina, Alexsandra I, Snigir, Ekaterina A, Yudin, Sergey M, Yudin, Vladimir S, Getmantseva, Lyubov V, Anderzhanova, Elmira A
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 08.11.2023
• Subjects: Adaptation; Autism; Behavior; Consortia; Emotional behavior; Genes; Genetic diversity; Genomes; genomic signatures; Genomics; Haplotypes; Hormones; Humans; Minority & ethnic groups; Natural selection; OXT; OXTR; Oxytocin; Oxytocin - genetics; Population genetics; Positive selection; Quality control; Reagents; Receptors, Oxytocin - genetics; Receptors, Vasopressin - genetics; Social behavior; Stress; Vasopressin; Vasopressins; Whole genome sequencing; United States > US; Switzerland; genomic signatures; stress; OXTR; AVPR1B; adaptation; OXT; positive selection; AVP; AVPR1A
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes14112053

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.