The Russian White is a gene pool breed, registered in 1953 after crossing White Leghorns with local populations and, for 50 years, selected for cold tolerance and high egg production (EL). The breed has great potential in meeting demands of local food producers, commercial farmers and biotechnology sector of specific pathogen-free (SPF) eggs, the former valuing the breed for its egg weight (EW), EL, age at first egg (AFE), body weight (BW), and the latter for its yield of extraembryonic fluid (YEF) in 12.5-day embryos, ratio of extraembryonic fluid to egg weight, and embryo mass. Moreover, its cold tolerance has been presumably associated with day-old chick down colour (DOCDC) – white rather than yellow, the genetic basis of these traits being however poorly understood. We undertook genome-wide association studies (GWASs) for eight performance traits using single nucleotide polymorphism (SNP) genotyping of 146 birds and an Illumina 60KBeadChip. Several suggestive associations (p < 5.16*10− 5) were found for YEF, AFE, BW and EW. Moreover, on chromosome 2, an association with the white DOCDC was found where there is an linkage disequilibrium block of SNPs including genes that are responsible not for colour, but for immune resistance. The obtained GWAS data can be used to explore the genetics of immunity and carry out selection for increasing YEF for SPF eggs production.

Analysis of ancient and historical DNA has great potential to trace the genetic diversity of local cattle populations during their centuries-long development. Forty-nine specimens representing five cattle breeds (Kholmogor, Yaroslavl, Great Russian, Novgorod, and Holland), dated from the end of the 19th century to the first half of the 20th century, were genotyped for nine polymorphic microsatellite loci. Using a multiple-tube approach, we determined the consensus genotypes of all samples/loci analysed. Amplification errors, including allelic drop-out (ADO) and false alleles (FA), occurred with an average frequency of 2.35% and 0.79%, respectively. A significant effect of allelic length on ADO rate (r² = 0.620, p = 0.05) was shown. We did not observe significant differences in genetic diversity among historical samples and modern representatives of Kholmogor and Yaroslavl breeds. The unbiased expected heterozygosity values were 0.726–0.774 and 0.708–0.739; the allelic richness values were 2.716–2.893 and 2.661–2.758 for the historical and modern samples, respectively. Analyses of F_ST and Jost’s D genetic distances, and the results of STRUCTURE clustering, showed the maintenance of a part of historical components in the modern populations of Kholmogor and Yaroslavl cattle. Our study contributes to the conservation of biodiversity in the local Russian genetic resources of cattle.

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 (OXT, OXTR) and vasopressin (AVP, AVPR1A, AVPR1B) 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 AVPR1B 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 AVPR1B gene rs28499431, rs33940624, rs28477649, rs3883899, and rs28452187 in most of the populations. Selection signatures have also been identified in the AVP, AVPR1A, OXT, and OXTR genes. Our analysis shows that the OXT, OXTR, AVP, AVPR1A, and AVPR1B 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.

BACKGROUND: Pigs are one of the most widely distributed domestic animals. The study of their genetic diversity and selection loci is of great interest both in the field of genetics and animal breeding, and in the aspect of conservation and development of breeding resources and food security. AIM: The aim of the presented work is to evaluate the autozygosity and the distribution of autozygosity segments (HBD) in wild boars and pigs of the main commercial breeds: Large White, Landrace and Duroc, and to search for selection loci related to adaptation to habitat conditions and selection pressure. MATERIALS AND METHODS: The aim of the presented work is to evaluate the autozygosity and distribution of autozygosity segments (HBD) in wild boars and domestic pigs of the main commercial breeds: Large White, Landrace and Duroc, and to search for selection loci related to adaptation to habitat conditions and selection pressure. RESULTS: Based on the results of the genome scan, the average autozygosity values in boars and pigs were in the range of 0.23–0.29, but in boars about 0.08 of the genome share is covered by HBD segments, presumably originating from ancestors who lived about 206 years ago; in pigs — originating from ancestors who lived about 64 years ago. CONCLUSIONS: Only 3 segments met the criteria for top-HBD (frequency of at least 60% and at least 10 SNPs) in boars. In Large White, Landrace and Duroc pigs, 18, 9 and 35 segments were identified, respectively. In general, the analysis of HBD segments showed that they reflect the main breeding strategies aimed at developing commercial pigs.

The diversity of geographically distributed human populations shows considerable variation in external and internal traits of individuals. Such differences are largely attributed to genetic adaptation to various environmental influences, which include changes in climatic conditions, variations in sleep and wakefulness, dietary variations, and others. Whole-genome data from individuals of different populations make it possible to determine the specific genetic sites responsible for adaptations and to further understand the genetic structure underlying human adaptive characteristics. In this article, we searched for signals of single nucleotide polymorphisms (SNPs) under selection pressure in people of different populations. To identify selection signals in different population groups, the PER1, PER2 and PER3 genes that are involved in the coordination of thermogenic functions and regulation of circadian rhythms, which is directly reflected in the adaptive abilities of the organism, were investigated. Data were analyzed using publicly available data from the 1000 Genomes Project for 23 populations. The Extended Haplotype Homozygosity Score statistical method was chosen to search for traces of selection. The comparative analysis performed identified points subject to selection pressure. The SNPs were annotated through the GWAS catalog and manually by analyzing Internet resources. This study suggests that living conditions, climate, and other external factors directly influence the genetic structure of populations and vary across races and geographic locations. In addition, many of the selection variants in the PER1, PER2, PER3 genes appear to regulate biological processes that are associated with major modern diseases, including obesity, cancer, metabolic syndrome, bipolar personality disorder, depression, rheumatoid arthritis, diabetes mellitus, lupus erythematosus, stroke and Alzheimer’s disease, making them extremely interesting targets for further research aimed at identifying the genetic causes of human disease.

Medicine of the 21st century has an extensive arsenal of means for diagnosing diseases. High-tech equipment can detect pathologies without clinical manifestations during the latent stage of disease development. Actigraphy is a portable device based on an accelerometer, used for tracking sleep parameters, and also, well established as a tool for monitoring the circadian rhythms of a person. Actigraphy is not an alternative to the use of polysomnography, however, it has advantages in ease of use, cost, and size of the device, in addition to allowing long-term continuous recording of night and daytime sleep over several days or weeks in the patient's home sleep environment. In addition to its primary function — the study of sleep characteristics — actigraphy is widely used as a method for detecting and monitoring diseases, including cognitive impairment, psychiatric disorders, cardiovascular pathologies, and respiratory diseases. In this review, we have compiled current information on actigraphy as a tool for disease diagnosis. The described results allow us to summarize the useful characteristics of such a diagnostic tool and shed light on applying this progressive and reliable method in medicine.