Volume 60, Nº 11 (2024)

It is known that pathogenic variants of genes controlling spermiogenesis can lead to the monomorphic teratozoospermia, which is characterized by the predominance of morphological abnormalities of any one type – globozoospermia, macrozoospermia, sperm acephaly, multiple abnormalities of the sperm flagellum, as well as polymorphic teratozoospermia, when several types of sperm abnormalities occur in the ejaculate. The information obtained as a result of systematization and analysis of information on pathogenic gene variants associated with impaired sperm morphology may be useful for understanding the molecular mechanisms of teratozoospermia. The evidences from 134 literature sources and the databases Malacards, OMIM, KEGG, CTD, DisGeNET were obtained. The information on 109 human genes pathogenic variants of which are associated with the teratozoospermia (globozoospermia, multiple flagellum abnormalities syndrome, dysplasia of the fibrous membrane of the flagellum of spermatozoa, acephaly, macrozoospermia, polymorphic teratozoospermia) was systematized. It was revealed that each type of teratozoospermia is caused by a violation of specific biological processes. However, pathogenic gene variants controlling the processes associated with the organization and functioning of the cytoskeleton and intracellular transport make the greatest contribution genetically determined teratozoospermia.

Transposable elements (TE) are found in the genomes of almost all eukaryotes. They have a characteristic structure that ensures their transposition activity, as a result of which TE can make changes in the structure and functioning of the genome. Through coevolution with the genome, TE sequences can be domesticated. “Molecular domestication” refers to the co-optation of TE sequence, resulting in it becoming a functional part of the host genome. In bivalves, DNA transposons of the TLEWI subfamily have been identified, which have signs of domestication, as well as spliceosomal introns, which makes them similar to eukaryotic genes. To test the domestication hypothesis, this work carried out an intraspecific analysis of the presence of TLEWI transposons in the Pacific oyster (Crassostrea gigas) and their transcriptional activity in various tissues, during ontogeny and under the influence of internal and external factors. As a result, intraspecific heterogeneity was revealed in the presence of potentially functional copies and expression of transposase genes. For example, for two elements, a dependence of transcriptional activity on the stages of ontogenesis, as well as on temperature, was revealed. This suggests that functional (possibly domesticated) alleles have been conserved in distinct populations of the Pacific oyster. The accumulation of additional data will allow us to discover populations that retain active TLEWI transposase genes and to determine whether these genes have been domesticated by genome.

The results of a comparative study of the genetic structure, parameters of intraspecific genetic diversity and spatial differentiation of 35 populations of Picea abies–P. obovata–P. koraiensis species complex, located within the areas of distribution «pure» species and in the contact zones of their ranges were presented. P. abies populations from Eastern Europe (Belarus, Poland), spruce populations from the European part of Russia, the Urals and the West Siberian Plain, located in the zone of P. abies and P. obovata introgressive hybridization, P. obovata populations from various parts extensive range of this species in Siberia and Mongolia, as well as P. koraiensis populations from the Russian Far East and Northeast China were analysed. The study of genetic variability and differentiation of populations was carried out on the basis of an analysis of the variability of three microsatellite loci: Pt63718, Pt71936 and Pt26081, developed on the basis of Pinus thunbergii Parl chloroplast genome. The use of these DNA markers made it possible to obtain data indicating a fairly high degree of P. koraiensis genetic divergence from two other spruce species included in the complex, P. abies and P. obovata. Korean spruce growing in the Far East differs significantly from the populations of these species in the number and composition of haplotypes, the level of genetic diversity and population structure, which gives us reason to consider it as a separate species.

Evolutionary processes and selective breeding have developed diverse arrays of local livestock populations adapted to specific natural and climatic conditions. Increased selection pressure and concentration on a few high-yielding breeds have led to the erosion of genetic resources worldwide. One effective approach to assessing genetic diversity is the study of mitochondrial DNA (mtDNA) polymorphism, which exhibits a high level of variability and is characterised by a lack of recombination, allowing the study of genetic relationships between breeds and the tracing of both ancient and relatively recent evolutionary events. The study of the evolution and demographic history of farm animal breeds is made possible by the involvement of historical and archaeological specimens in research. The aim of our work was to identify the most efficient way to investigate mitochondrial DNA extracted from archaeological samples, allowing the analysis of population genetic parameters. The study included samples dating from the late XIII–XIV centuries, discovered during excavations of the central part of the medieval Kremlin within the boundaries of modern Yaroslavl. The methods of full-genome sequencing and Sanger sequencing of mtDNA fragments were used to study the maternal variability of cattle bred in the forest zone of the Russian Plain. A dendrogram based on genetic distances of the complete mitochondrial sequence using the Neighbor-Joining method revealed clustering of archaeological samples in groups of modern Yaroslavl and Kholmogorsk cattle, which may indicate common ancestors of all three populations. A detailed examination of some regions of the mitogenome revealed that the archaeological samples were successfully genotyped with sequences that slightly overlapped with each other. Therefore, a system for genotyping the hypervariable region of the D-loop using Sanger sequencing of the target fragment was developed. The analysis of nucleotide and haplotypic diversity revealed minimal values of these parameters in the group of archaeological samples. The constructed median haplotype network allowed to attribute the archaeological samples to haplogroup T3, the most widespread in European cattle breeds. The analysis of the obtained data allows us to assume the origin of the studied archaeological specimens from individuals of the local group of cattle bred in the vicinity of medieval Yaroslavl in the XIII–XIV centuries.

The results of an analysis of the dynamics of the nationality of spouses in the Belgorod region from 1890–1910 are presented. for 2016–2018 A fairly homogeneous national composition has been established with a predominance of Russian nationality (more than 90% among both men and women) in all time periods. Over the 130–year period, the share of Russian nationality decreased slightly (1.1 times among both men and women) and the shares of Ukrainians increased (from 0.99% to 5.05% for men and from 0.57% to 5.38% for women) and other nationalities (from 0% to 4.03% in men and from 0.20% to 2.74% in women). The ethnic marital assortative index shows constancy for Russian nationality, a stable decline for Ukrainian nationality (both in the city and in the countryside), and for other nationalities a decrease for the urban population and an increase for the rural population.

In this study analysis of the mitochondrial gene pool of residents of the village Russkoye Usty’e was carried out. It was revealed that the spectrum of mitochondrial lines of the Russian old-settlers is represented by 8 haplogroups and is characterized by the dominance of East-Eurasian lineages C, D, G, F and M13, which amounted to 66.7%. The West-Eurasian lineages HV, H and U (33.3%) were minor, which predominated the rare sub-haplogroup H2a. It was revealed that among Russian old-settlers, the H2 lineages occurs with one of the highest frequencies in the world (16.7%), forming a specific cluster, distant from the other European H2a-lineages, probably formed as a result of a founder effect. The preservation of specific maternal lineages in the gene pool of the Russian old-settlers may be one of the convincing evidence in favor of the existence of an earlier by sea wave of settlement of the Arctic coast of Yakutia by Pomorians in XVI c., before the arrival of the Cossacks in XVII c.

The expression of the LYST and SLFN12L genes in peripheral blood leukocytes (PBL) in patients with pulmonary sarcoidosis with a chronic course of the disease and in healthy people was studied in this work. Patients with chronic pulmonary sarcoidosis, on the second stage of the disease (20 people without therapy, average age of whom was 41.00 ± 12.56 years) and 25 healthy people (average age was 45.86 ± 2.13 years) were enrolled in this study. The level of gene expression was determined by real-time PCR. A significant decrease in the transcripts of the SLFN12L gene (p = 0.002) and a low content of mRNA of the LYST gene (p = 0.09) in the PBL of patients with pulmonary sarcoidosis compared to healthy people was established. Differential expression of LYST and SLFN12L may indicate the involvement of these genes in the pathogenesis of this disease, and it is possible they participate in the modulation of immune reactions during the development of inflammatory processes in pulmonary sarcoidosis.