


Vol 61, No 6 (2025)
ОБЗОРНЫЕ И ТЕОРЕТИЧЕСКИЕ СТАТЬИ
The role of sirtuins in cellular senescence and the development of age-associated diseases
Abstract
The increasing proportion of the older age group population is an Irreversible global trend. There is an increasing number of studies that support the hypotheses that age-associated diseases and geriatric conditions share a common set of basic biological mechanisms. Numerous endogenous molecules counteract cellular senescence mechanisms. Several anti-aging molecules have been identified to date and their role has been evaluated in the pathophysiology of various diseases. NAD-dependent protein deacetylases and ADP-ribosyl transferases from the sirtuin family are considered as potential factors affecting cellular senescence processes. Sirtuins are involved in antioxidant and oxidative stress responses, regulation of mitochondrial function, DNA damage repair, and metabolism. Sirtuins and associated signaling pathways of the cellular senescence regulatory network have a significant impact on the development of age-associated diseases. Review presents the results of a comprehensive analysis of the results of fundamental and clinical studies in order to actualize the role of sirtuins in cellular senescence and the development of age-associated diseases. Data on the mechanisms of cellular senescence, the function of sirtuins (SIRT1-7), their interaction with key regulators of cellular senescence signaling pathways, and the association of polymorphic variants of sirtuin genes with multifactorial diseases and longevity are presented.



Intratetrad mating: 60 years later
Abstract
The article describes the history of the discovery and study of intratetrad mating as a form of closely related crosses in fungi. The results of studying the prevalence and genetic features of this phenomenon in phytopathogenic basidiomycete Microbotryum violaceum and yeast (Saccharomyces sp., Saccharomycodes ludwigii) are presented. The evolutionary and genetic consequences of intratetrad mating are considered.



Concepts of horizontal gene transfer at the turn of the 20th and 21st centuries
Abstract
Horizontal gene transfer (HGT) is a fundamental process in the evolution of prokaryotic and, potentially, eukaryotic organisms. It facilitates the exchange of genetic material across diverse species and groups, bypassing traditional inheritance pathways. Research conducted at the turn of the 20th and 21st centuries has demonstrated that HGT not only drives the diversification and adaptation of prokaryotes but also plays a significant role in the evolution of complex eukaryotic life forms. This mini-review explores the various mechanisms of HGT, including transformation, transduction, and conjugation in prokaryotes, as well as specific instances of HGT in eukaryotes. It also discusses modern methods for detecting HGT, such as molecular approaches based on genome sequencing and the analysis of evolutionary history. The review highlights the structure of HGT networks and the role of microbial hubs in facilitating gene transfer. Additionally, it addresses potential applications of HGT in biotechnology and raises important questions regarding its potential risks to human health. This work emphasizes the need for further research into HGT mechanisms and their impact on genome evolution, including the opportunities and constraints they impose on the adaptation of organisms to environmental changes.



ГЕНЕТИКА ЖИВОТНЫХ
Polymorphism of five exons of the vtg gene Apis cerana in populations of Russia, South Korea and Vietnam
Abstract
The best-known kitchen modules of the Apidae are the honey bees Apis mellifera and the wax bee Apis cerana. Compared to the honey bee, A. cerana is somewhat smaller in size, although it lives with it. The wax bee is native to temperate and tropical Asia, ranging from Afghanistan to Korea and Japan, north to the Himalayan foothills, as well as eastern Russia and south through Indonesia. The learning of bees to a changing environment is a fundamental question in evolutionary biology and is critical to protecting species in the face of climate change. In this method, five exons (from 3 to 7) of the vitellogenin gene vtg were sequenced to study the taxonomic relationships of individual populations and subspecies of A. cerana. Our detailed studies of the defensin 1 and 2 genes (def1 and def2) revealed the peculiarity of the structure of A. cerana in Vietnam, probably due to the geographical location of this direction. Currently, we confirm this assumption based on the analysis of the polymorphism of the vtg gene , which encodes a protein that implements the genetic control of immunity, oogenesis and lifespan. conservation within the protein may have selective significance for local populations. The vtg gene also contributes to the adaptation of bees to a cold climate. It is believed that the survival of long-lived representatives of various bee species, among other things, is associated with the development of the ability to accumulate vitellogenin, which can determine the differences in the stages of proteins in bees living in different conditions.



Characterization of feed conversion by sex chromosomes via full genome association study
Abstract
The study of quantitative and qualitative traits from a genetic perspective is impossible without considering diseases or characteristics linked to sex. Currently, genomic selection based on sex chromosomes, conducted through genome-wide association studies (GWAS), has not been a key factor in developing specialized code and functional gene annotation, taking into account GO and KEGG libraries, as well as the analysis of previously identified genes. The aim of this research was to develop a software code for conducting GWAS on pig sex chromosomes and to identify functionally significant genes to explain the "phenotype-sex genetics" relationship. This will further refine the selection process for pigs in the population nucleus and enable the prediction of hereditary diseases in animals. In this article, we performed, for the first time, a GWAS analysis of genomic estimated breeding values for the feed conversion trait, focusing solely on sex chromosomes (sGWAS). Structural annotation identified 21 genes located on the X chromosome and 8 genes on the Y chromosome, including the homologous XY region. Cluster analysis of the identified genes revealed a significant association with the feed conversion ratio in eight of them: STS, DDX3X, PUDP, PNPLA4, DHRSX, GPR143, SHROOM2, and PRKX. Functional annotation of these genes highlighted their significant contribution to biological processes, including hereditary diseases and sex-linked specificity.



ГЕНЕТИКА ЧЕЛОВЕКА
The genetic study of a museum anthropological sample from the urban burial of Staraya Ryazan of the 11th–13th centuries
Abstract
Old (Staraya) Ryazan has a special place in the history of Rus' cities. Following its destruction by Batu's troops in December 1237, the city declined and was ultimately abandoned in the 14th century. The new city was built in a different place. Studies of the population of Old Ryazan based on anthropological museum collections, allow us to assess the genetic structure of the urban population mainly of the pre-Mongol period. The article discusses the results of the analysis of one sample from the materials obtained during the excavations of A.V. Selivanov. The results of anthropological and whole-genome analysis showed that the sample under study belonged to a woman. Reconstruction and analysis of the complete sequence of mitochondrial DNA (mtDNA) indicated its belonging to the Western European haplogroup HV4a1a. This study is the first finding of this mitochondrial haplogroup among the medieval population of Rus'. The discovered mtDNA maternal lineage is currently rare and predominantly distributed among the European population of the Franco-Cantabrian region (the territory of northern Spain and south France). The closest matches in the complete mtDNA sequence (a difference of one nucleotide position) with the studied sample were found in modern representatives of the Basques and one individual from Denmark. The results obtained may indicate the Western European maternal ancestry of the studied woman from medieval Old Ryazan and the existence of possible common relatives with the modern population of Western Europe. Our study is an example of the use of modern genomic methods to reconstruct the individual history of people whose anthropological materials are presented in museum collections. In addition, the obtained results contribute to understanding the peculiarities of the formation of the genetic structure of the urban population of Rus'.



Microarray analysis of peripheral blood lymphocytes transcriptome in breast cancer patients
Abstract
Breast cancer is number one in terms of indicators of mortality and morbidity in women. In postgenomicera it was revealed that pathology development is linked with specificities of gene expression including transcriptional, posttransctiptional, translational, epigenetical regulation. In research was included biomaterial of 16 patients (8 patients with I/ IIstage luminal A breast cancer and 8 healthy women). Functional enrichment analysis using WebGestalt source and different databases (Gene Ontology, KEGG) showed alterations in expression of genes involved in immunological response, metabolism of carbohydrates, glutathione and nicotinamide, DNA repair, ion transport and intracellular signals transition. Obtained results expand our vision about specificities of blood mononuclears transcriptome during breast cancer on early stage.



КРАТКИЕ СООБЩЕНИЯ
The identification of genetic factors contributing to human oocytes maturation arrest using whole-genome sequencing
Abstract
Female fertility is dependent on the successful maturation of oocytes, a complex and meticulously regulated cellular process that prepares oocytes for fertilization and subsequent embryonic development. However, with advancing age and the onset of reproductive senescence, the probability of errors in this process increases significantly. These age-related alterations are associated with the accumulation of genetic and epigenetic abnormalities, mitochondrial dysfunction, and modifications in cytoskeletal function, all of which elevate the risk of oocyte maturation defects, embryonic developmental anomalies, and infertility. In this study, we conducted a genetic analysis of a patient experiencing female infertility due to oocyte maturation arrest and identified a heterozygous variant, c.527C>T (p.Ser176Leu), in the TUBB8 gene. This variant disrupts microtubule formation, leading to defects in meiotic spindle formation and subsequent oocyte arrest. Variants in the TUBB8 gene, which encodes a crucial component of microtubules, have been implicated in the pathogenesis of oocyte maturation arrest, abnormal fertilization, and other related disorders. Such changes may be particularly pronounced in women exhibiting characteristics of reproductive senescence.



Variability of the promoter-operator region of Bacillus cereus hlyii gene impacts on its transcriptional activity level
Abstract
The promoter-operator region of the Bacillus cereus hlyII gene includes an elongated operator region with mirror symmetry, recognizable with the main specific transcriptional regulator HlyIIR. In addition, regions for the global transcription regulators Fur, OhrR, and ResD, are located in the region of the hlyII gene operator. The latter is a transcriptional regulator of the redox-sensitive ResDE signal transduction pathway. Bacillus cereus sensu lato strains were found with a disturbance in the proximal part of the area recognized by HlyIIR and ResD. The essential role of these regions in the expression of the hlyII gene has been demonstrated. Natural strains of Bacillus cereus with deletions in the proximal region of the HlyIIR operator of the hlyII gene have a significantly reduced expression level of hlyII were identified. Disturbances in HlyIIR operator reduce the expression of hlyII several tens of times. The presence of an intact recognition site for ResD reduces the expression of this gene several times under aerobic conditions. These results allow us to determine the influence of structural variability in the promoter-operator region of Bacillus cereus hlyII genes on its transcriptional activity.


