卷 60, 编号 6 (2024)

Aortic aneurysm (AA) is a life-threatening condition, and aortic rupture that is the complication of AA in the absence of emergency surgery leads to death. Genetic (more often in thoracic AA – TAA) and environmental factors (in TAA and abdominal AA – AAA) contribute to the development of AA. This review summarizes the data of scientific publications devoted to the study of DNA methylation under the influence of AA risk factors, as well as in the cells of different parts of the aorta (thoracic, abdominal) in normal and pathological conditions. Changes in DNA methylation are observed in aortic and/or blood cells in the presence of AA risk factors (arterial hypertension, smoking, age, presence of comorbidities). Studies of DNA methylation in TAA and AAA are few and have been conducted using different approaches to sample formation, cell sample selection, and experimental methods. However, they provide convincing evidence of the altered DNA methylation status of genes selected for study using a candidate approach (in the AAA study), as well as of different genomic regions in genome-wide DNA methylation analysis (mainly in TAA studies). Genes localized in differentially methylated regions are associated with the functioning of the cardiovascular system and are involved in cellular and metabolic processes pathogenetically significant for the development of AA. In a number of cases, the association of DNA methylation levels with clinical parameters in AA has been established. These results indicate the prospect of expanding the studies of DNA methylation in AA, including the identification of new pathogenetically significant links in AA development.

Transposable elements (TE) of eukaryotes – retrotransposons and DNA transposons – are nucleotide sequences that can move from locus to locus of the genome, as well as between the genomes of different organisms. L31 DNA transposons are an ancient and diverse group belonging to the large IS630/Tc1/mariner group. L31 transposons are not widespread and are present in a limited number of taxa. In addition to the sequence encoding the DDE/D transposase, L31 transposons carry another ORF (ORF2). Detailed analysis of L31 elements in the genomes of six-rayed corals has provided detailed information on the distribution, diversity and structure of the elements. Two large groups, L31-duo and L31-uno, were identified, differing in both catalytic domain pattern and structure. As a result of reconstruction of the evolution of L31 transposons, it was suggested that six-rayed corals received L31 transposons from bivalves. At the same time, the split-off group L31-uno may have been obtained by mollusks as a result of horizontal transfer from corals. Studies of the distribution and diversity of TE in marine invertebrates will contribute to a better understanding of the evolutionary processes of TE and their role in the evolutionary history of species.

The process of changes of the number and morphology of B-chromosomes in the populations of mice (Apodemus peninsulae) in the northern region of the Teletskaya taiga of Altai Mountains: over a 36-year period (1978‒2014) was traced. Three time’s phases can be distinguished. From 1978 to 2002 (24 years) – a phase of steady growth in the number of B chromosomes, with a relatively uniform average increase of 1.4 chromosomes per decade (from 3.17 ± 0.2 to 6.5 ± 0.54). The stabilization’s phase of the indicator in a narrow range of 6.3‒6.9 (2002‒2012), but at more than a twofold high level compared to the beginning of the 1980s (differences are significant) and the period (2012‒2014) of the emerging trend towards a decrease in the number of additional chromosomes (differences are also significant). The change in the index of the conditional mass of B chromosomes (mB) also has similar dynamics, and during the period of stabilization it was at its maximum for the species. The dynamics of different types of B-chromosomes shows an unequal contribution to the overall dynamics. The main contribution is made by macro-B-metacentrics. Micro-B-chromosomes and acrocentrics are absent in the growth phase and appear in the stabilization phase at the maximum of other indicators.

Currently genetic evaluation of animals is an important part of the development of the agricultural complex. The improvement of molecular technologies every year makes it possible to carry out genetic research aimed at finding the most valuable animals in a cheaper and faster way. Indigenous breeds of cattle are an attractive object for such research because they have greater adaptive potential and resistance to diseases. However, modern comparative data on the genetic diversity of most local breeds based on SNP markers associated with health are lacking. Genetic association tests using these genetic markers for the Tagil, Sychevskaya, Suksun and Istobenskaya breeds are still to be carried out. The purpose of this work was to compare the genetic diversity of five cattle breeds using SNP markers associated with the development of ketosis, mastitis and productive longevity.

We describe the results of genetic analysis of 11 phenotypically deviant individuals of grey wolf (Canis lupus Linnaeus, 1758) sensu lato collected in Voronezh State Nature Biosphere Reserve (Chernozem zone of European Russia) and Dagestan (Northern Caucasus, Russia) putatively identified morphologically as hybrids between grey wolf and golden jackal (Canis aureus Linnaeus, 1758). By means of maternally inherited mtDNA (sequences of cytochrome b gene fragment) and paternal lineage markers ZfY no F1 wolf-jackal hybrids were identified. As well, possibility of classification of the studied individuals to next generation hybrids from crosses between different wolf-jackal F1s. However, attribution of these animals to complex hybrids such as various backcrosses cannot be rejected. From the results of analysis by a set of autosomal microsatellite loci we putatively diagnosed a single F2 hybrid. As well, we obtained data that can be considered as traces of hybridization between wolf and jackal in southern regions of European Russa, albeit direct indications of introgression between these species not found. At the same time, the results of both genetic and craniological studies could be interpreted as indication to hybridization between wolves and domestic dogs on the same territories.

The gene pool of the Koryaks was studied in comparison with other Far Eastern and Siberian peoples using a genome-wide panel of autosomal single-nucleotide polymorphic markers and Y-chromosome markers. The results of analyzing the frequencies of autosomal SNPs using various methods, the similarity in the composition of Y-chromosome haplogroups and YSTR haplotypes indicate that the gene pool of the Koryaks is as close as possible to the Chukchi one and was formed as a result of the unification of several groups whose ancestors moved from the territory of modern Yakutia and the Amur region. The two dominant Y-chromosome haplogroups of the Koryaks with different sublineages and haplotype clusters demonstrate their contacts with the Chukchi, Evens, Yukaghirs and Eskimos. Analysis of the composition of genetic components and IBD blocks on autosomes indicates the maximum genetic proximity of the Koryaks to the Chukchi. Among the Siberian populations, the Chukchi, Koryaks and Nivkhs form a separate cluster from the main group of Siberian populations, while the Chukchi and Koryaks are more closely related. Far Eastern populations are divided in full accordance with geographic localization into the northern group (Chukchi and Koryaks) and the southern group, including the Nivkhs and Udege. A more detailed analysis of the component composition of gene pools in some populations reveals components specific to them. The isolation of such components is associated with founder effects and a shift in allele frequencies for these populations. The Koryaks and Chukchi are one of the most striking examples of long-standing genetic kinship. In their populations, maximum values of the level of genomic inbreeding FROH > 1.5 (0.0422, 0.0409) were found, which is natural due to their relative isolation.

Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease with a prevalence of 1 : 200–1 : 500 in the general population. The majority of HCM-linked pathogenic (or likely pathogenic) variants is located in eight genes encoding proteins of sarcomere, the main contractile unit of cardiomyocytes; one of these genes, MYBPC3, is the most commonly affected and usually associated with the more benign clinical course of the disease compared to other HCM-related genes. Here, we describe a novel frame shift variant NM_000256.3:c.2781_2782insCACA of the MYBPC3 gene that causes familial HCM in the heterozygous state. The proband had a progressive heart failure despite the surgical removal of left ventricular tract obstruction. Evaluation of levels of transcripts produced from the mutant allele and wild-type allele of the MYBPC3 gene in proband myocardial tissue and comparison of their total levels with ones in the control samples from patients without HCM showed a significant allele-specific reduction of mutant transcript levels. Our results expand the spectrum of known genetic variants with a proven role in the development of HCM.

The GEX2 protein is expressed in the maize gamete membranes and necessary for gamete membranes contact (adhesion). Knockout of GEX2 gene, presumably, can lead to impaired fertilization and, as a result, to the haploid embryo formation. The aim of the study is to analyze the efficiency of CRISPR/Cas9 editing of the GEX2 gene after PEG-mediated transfection of maize protoplasts by ribonucleoprotein (RNP) complexes with different sgRNA. For the first time, the RNP complexes with different sgRNA to the GEX2 gene have been created. The effectiveness of CRISPR/Cas9 editing of the GEX2 gene have been proven on protoplasts and reaches 10.7%, depending on the sgRNA, level and thesgRNA:Cas9 ratio in the RNP complex.