Vol 60, No 1 (2024)

Morphological studies of farm animals are most often conducted using simple preparation and staining techniques. The study of the processes of embryogenesis, postembryonic features of the development of organs and tissues, as well as the effect of various substances remains to be elucidated not only using histochemical and immunohistochemical staining methods, but also using RNA in situ hybridization and transcriptome in situ sequencing. Aspects of many cellular and tissue processes for cattle, pigs and chickens in the context of comparative physiology have not yet been studied. The high productivity of farm animals is associated with the intensive functioning of all organs and systems of the body. The influence of the agricultural management of farm animals and its consequences on the development of an organism in ontogeny deserve a separate area of research from the point of in situ gene expression. Despite rapid development of transcriptome sequencing technologies, which result in the discovery of new candidate genes for many processes, RNA in situ hybridization remains the gold standard for their validation. This review briefly presents modern techniques and their modifications for studying in situ gene expression. Transcriptome studies that have been implemented in cattle, pigs and chickens as model organisms include: in situ RNA hybridization using ZZ-probes, tyramide signal amplification, hybridization chain reaction, digoxigenin-labeled probes, RT-PCR, single cell transcriptome sequencing, in situ transciptome sequencing. This paper is a review of the results of studies on cattle, pigs and chickens. The results of research in this area are relevant for understanding the features of adaptation mechanisms at the transcriptomic level in highly productive animals under industrial conditions in order to search for new markers of valuable agricultural traits. It should be noted that in literature there are very few studies using RNA in situ hybridization, despite the availability and simplicity of the method.

The review is devoted to the analysis of the scope of the genes of Mendelian cardiomyopathies (CM), specifically hypertrophic, dilatational, arrhythmogenic, and restrictive cardiomyopathy. According to Simple ClinVar, pathogenic/probably pathogenic variants of 75 genes lead to the development of one or more types of CM. At the same time, these genes are characterized by their expression in various tissues and organs (not only in the heart and blood vessels, but also in various parts of the brain, gastrointestinal tract, etc.), as well as by their involvement in a variety of metabolic pathways and biological processes. These data are generally consistent with the results of genome-wide association studies (GWAS). Polymorphisms of the CM genes are associated with various types of CM and other cardiovascular diseases, as well as obesity, various diseases of the musculoskeletal and nervous systems, mental, oncological, infectious diseases, and others. In addition to pathological conditions, common variants of the CM genes contributed to the variability of a wide range of quantitative traits, including pathogenetically significant for various multifactorial diseases. The non-randomness of the identified associations of CM genes with a wide range of diseases is evidenced by: comorbidity of CM with GWAS-associated diseases or the involvement of the latter as a symptom, a risk factor for the development of myocardial pathology, a modifier of the clinical presentation; overlapping of the affected organ systems and the spectrum of pathologies associated with common variants (according to GWAS) and to which rare pathogenic variants (according to OMIM) of the CM genes lead; confirmation of the involvement of CM genes in the pathogenesis of pathologies of other organ systems at the molecular level. Thus, the data presented in the review indicate the wide scope of the genes of primary CM, which goes beyond the cardiovascular system. That indicates the relevance of conducting comprehensive studies aimed at determining the cause-and-effect relationships between the CM and pathologies of other organs, including with the involvement of molecular genetic data.

The study of changes in the genetic apparatus of biological systems due to the influence of physical factors contributes to understanding the mechanisms of adaptation. The article is devoted to the analysis of the genome of the modified Escherichia coli PL-6 variant obtained as a result of repeated and gradually increasing exposure to ⁶⁰Co ɤ-rays at the Researcher facility. The integrity of the genetic material of the studied bacterial cells was checked by electrophoresis in 1.7% agarose gel. For the analysis of genome modifications, primers were designed to amplify several loci characterized by homology in a variety of E. coli strains. Based on the indicators of the number and size of amplified products using each of the presented primer combinations in E. coli before and after gamma irradiation, a significant change in the genome was established.

Trifolium polyphyllum is a Caucasian endemic of the Fabaceae family peculiar for its inability of nitrogen fixation. Despite this unique trait, the species is insufficiently studied, in particular, little is known about its propagation and dispersal modes. Analyses of ISSR markers in a sample from a population at Malaya Khatipara Mountain revealed that the species is capable to both sexual and vegetative propagation; however, the former mode dominates. We found out that separate patches within a local population are considerably genetically differentiated within an area of about 2000 square meters (PhiPT = 0.349; p = 0.001). We suppose this may happen due to lack of adaptations to seed dispersal. We also suppose that the observed concentration of genetically admixed individuals in upper parts of slopes is due to peculiarities of pollinators’ behavior. The size of vegetative clones does not exceed 1 square meter.

Using 11 microsatellite markers (ОarCP49, INRA063, HSC, OarAE129, MAF214, OarFCB11, INRA005, SPS113, INRA23, MAF65, McM527), data were obtained on the levels of variability and degree of differentiation of 24 populations (1140 samples) of the Tuvan coarse-haired short-fat-tailed sheep of different regions of the Republic of Tyva and 24 breeds of sheep (721 samples) of various origins, covering the main sheep-breeding regions of the Russian Federation. During the analysis, a high level of genetic isolation and variability of Tuvan sheep was found, and in the general structure of Russian sheep breeds, a pronounced genetic divergence was revealed into two large groups, one of which unites fine-fleeced and semi-fine-fleeced sheep, and the other indigenous coarse-wooled breeds of North Caucasian and Asian origin

On the basis of 16 microsatellite markers, the genetic structure of the domesticated reindeer of two breeds, Evenk and Even, bred on the territory of the Central Siberian Plateau and adjacent territories, was studied. Genetic flows between modern domesticated reindeer populations of two breeds were analyzed. Significant differences were found between the Evenk taiga and Even breeds of domestic deer. Using a historical sample from the middle of the last century, a high degree of stability in time of the gene pool of domesticated populations was revealed. It has been established that genetic flows between wild and domesticated forms in the study area are insignificant. Statistically significant genetic differences between wild and domesticated reindeer populations are shown.

Schizophrenia, the most common severe mental illness, leads to a serious decrease in higher functions, mainly to a change in cognitive functions and perception of reality. Both genetic and environmental factors are involved in its pathogenesis; however, its genetic component still needs to be studied. The aim of the study was to identify genetic markers of paranoid schizophrenia in Tatars from the Republic of Bashkortostan. Genome-wide genotyping of DNA samples was carried out on the PsychChip biochip, which included 610,000 single nucleotide polymorphic variants (SNPs). The studied sample consisted of 357 patients with paranoid schizophrenia and 383 healthy individuals of Tatar ethnicity. As a result of the study, the association of the SNP rs12376586 of the MAMDC2 gene located in the region 9q21.13 with the development of paranoid schizophrenia in Tatars living in the Republic of Bashkortostan was established for the first time.