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卷 61, 编号 5 (2025)
ОБЗОРНЫЕ И ТЕОРЕТИЧЕСКИЕ СТАТЬИ
The human genome and COVID-19
摘要
The novel coronavirus infection (COVID-19) is an acute infectious disease caused by the SARS CoV2 virus. The COVID-19 pandemic has become a global challenge for health and science, and in the field of human genetics has led to a surge in research on the role of host genetics in susceptibility to and severity of infectious diseases. Despite the non-genetic etiology of COVID-19, genome-wide association studies and whole-genome and whole-exome analyses have identified a number of genomic regions that are significantly associated with susceptibility to infection and disease severity, modifying the risk of developing COVID-19 at the individual level. These data cannot serve as a basis for identifying risk groups or predicting the severity of the disease, but are useful for understanding the pathogenesis of the disease and developing approaches to its diagnosis and therapy. Studies at the level of post-genomic mechanisms regulating the implementation of genetic information have revealed specific patterns of expression and methylation of the genome in response to the virus and during disease progression and have shown the potential for developing targeted approaches for the treatment and prevention of COVID-19. The challenges for genetics as a science that have arisen with the development of the COVID-19 pandemic, the answers to them, the experience and accumulated data will undoubtedly be reflected in further substantiated approaches to the diagnosis, prevention and treatment of both COVID-19 and other rapidly spreading infectious diseases.
3-13
Genetic basis of abdominal fat accumulation in chickens
摘要
Abdominal fat deposition in chickens is an important trait that affects meat quality, reproductive performance and overall production efficiency. This review analyses key aspects of the genetic regulation of this process, including the role of transcription factors, microRNAs and key metabolic pathways. The prospects for applying knowledge of molecular mechanisms in breeding programmes to achieve an optimal balance between production performance, product quality and reduced feed costs are discussed. Detailed attention is given to genetic studies, including GWAS, transcriptomics and the use of genome editing technologies, which reveal the polygenic nature of fat deposition. Mechanisms regulating lipogenesis and adipocyte differentiation are described, as well as interactions between signalling pathways such as PPAR and SREBP. The findings emphasise the importance of molecular approaches to improve the environmental sustainability of the industry and meet consumer demands for high quality meat products.
14-29
ГЕНЕТИКА РАСТЕНИЙ
Evaluation of genetic polymorphism of the Quercus robur L. population in the old-growth oak grove of the Main Botanical Garden named after N. V. Tsitsin of Russian Academy of Sciences based on ISSR analysis method
摘要
The oak grove of the Main Botanical Garden named after N. V. Tsitsin has been known since 1731. From 1743 to 1917, it was the property of the Sheremetev counts. Some information from literary sources suggests that some of the oak ands may be of artificial origin. The aim of this study was to assess the genetic diversity of Quercus robur in the oak grove ecosystem on the territory of the Main Botanical Garden of the Russian Academy of Sciences and to establish genetic relationships with samples from the central regions of the European part of Russia. The ISSR analysis method as used to characterize the polymorphism of Q. robur samples. The analysis of genetic relationships using UPGMA and principal coordinate analysis (PCoA) clustering methods revealed the genetic isolation of samples from the Vladimir and Ryazan regions relative to samples from the Main Botanical Garden of the Russian Academy of Sciences, Moscow, Tver, Tula, Voronezh and Lipetsk regions. The indices of genetic polymorphism in the formed population in the oak grove ecosystem on the territory of the Main Botanical Garden of the Russian Academy of Sciences have the following values: effective number of alleles (Ne) 1.480 ± 0.042; genetic diversity index (I) 0.455 ± 0.024; expected heterozygosity (He) 0.294 ± 0.020. The specified parameters can be considered the starting point for genetic monitoring of the population.
30-40
ГЕНЕТИКА ЖИВОТНЫХ
Study of genetic differentiation of island and mainland populations of the striped field mouse (Apodemus agrarius Pallas, 1771) by means of microsatellite polymorphism analysis
摘要
The allelic diversity and level of genetic differentiation of striped field Apodemus agrarius mouse populations in different parts of the species range were assessed based on 6 microsatellite loci. The study was performed on field mice from four islands of Peter the Great Bay (Sea of Japan), as well as samples from populations of large isolated continental massifs – eastern (6 samples from localities in the south of the Russian Far East and 1 combined sample from Central China). One combined sample from western isolate was analyzed too. A large number of common microsatellite alleles (62 of 84 identified) were found in island and mainland populations. In island populations, compared to continental populations, there is a depletion of the allelic composition and a greater mosaicism of allele frequencies, including unique ones. The obtained data indicate a higher level of differentiation of the striped field mouse populations on islands separated by straits from the mainland and from each other in the Holocene, compared to the differentiation of populations of vast western and eastern isolated continental massifs. Continental isolates were genetically differentiated from each other to approximately the same extent as spatially separated populations of the southern Far East and Central China within the eastern isolate. The obtained result suggests a relatively recent (possibly during the Holocene climatic optimum) penetration and rapid spread of the striped field mouse across Western Siberia and Europe, or the existence in the history of the species of several «waves of invasions» in the western direction.
41-56
ГЕНЕТИКА ЧЕЛОВЕКА
Genetic demography of the population of Moscow. Marriage structure of the population
摘要
The marriage structure of the Moscow population was analyzed as part of the study of genetic-demographic processes in modern megalopolises. The source for the study was the data of questionnaire survey of practically healthy residents of Moscow in two age groups: the «older» group (average year of birth: men – 1949, women – 1948) and the «younger» group (average year of birth: men – 1985, women – 1988). The level of intraethnic assortative mating was calculated (in Russians the index of positive assortative mating is 75% in the «older» group and 88% in the «younger» group). The analysis results of calculation of marital distances revealed that in the «younger» group of the Moscow population the average marital distance is 2.5 times greater than in the «older» group. In the «older» group of Muscovites the proportion of interethnic marriagesis is about 10% and in the «younger» group is slightly higher – about 12%. In the «older» group of the Moscow population, the average level of exogamy is 0.97 ± 0.09 (σ = 1.31). In the «younger» group, the average level of exogamy is significantly higher – 1.95 ± 0.11 (σ = 1.19). In the «older» group, the flow of «foreign» genes is greater by the father's line than by the mother's line (2Y flow is 9% and 2mt flow is 6%). In the «younger» group, on the contrary, there are slightly more «foreign» genes in the mother's line (2Y flow is 8% and 2mt flow is 12%). The analysis of the marriage structure of the population from two different groups of Moscow showed increase in the values of marital distances by generations (calculated for the most numerous nationality, i.e. both spouses are Russians), also, increase of the average level of exogamy (in accordance with the previously defined increase of intensity and distance of migration to the «megalopolis»); gender features of gene flows into the gene pool of «megalopolis» correspond to the structure of migration and differences in parameters of the marriage structure between generations in the population of Moscow.
57-66
Genetic alterations of oral cancer associated with progression in young adults
摘要
Oral squamous cell carcinoma (OSCC) in young adults is an aggressive and rapidly progressive disease that is not correlated with traditional risk factors such as smoking, alcohol consumption, or human papillomavirus (HPV) infection. The aim of the study was to identify genetic alterations associated with early-onset OSCC progression. The study included 25 young patients with OSCC living in the Russian Federation. Whole-exome sequencing of primary tumor and peripheral blood samples was performed using the SureSelect XT v. 8.0 DNA library preparation kit on the Genolab M platform. Analysis of single nucleotide variants (SNVs) and insertions and deletions (indels) was performed using the GATK pipeline; filtering of genetic variants in the tumor relative to those in the peripheral blood was performed using the Mutect2 pipeline; mutation annotation was performed using ANNOVAR. Statistical data processing was performed using the IBM SPSS Statistics 20 computer program package. To test mutations that showed a statistically significant result in relation to relapse-free, metastasis-free, and overall survival, data from the Cancer Genome Atlas (N = 127) were used. There was revealed the prognostic significance of somatic mutations in TAF1L, CUL7, PRPS1L1, and CDKN2A genes for relapse-free survival (p = 0.003, p = 0.003, p = 0.003, and p = 0.004 respectively), PLEC, and TEP1 for metastasis-free survival (p < 0.001 and p = 0.007 respectively), and ADGRL3, PREX1, and CDKN2A for overall survival (p = 0.023, p = 0.023, and p < 0.001 respectively). All mutations in the CDKN2A gene were frameshift or results in a premature termination codon, one patient was found to have a pathogenic variant rs121913387. For the CUL7 gene, the variant rs369167170 was recurrent in patients with relapses, and for the PLEC gene, the variant in the region 7:18027430 C>A was recurrent in patients with metastases. Analysis of The Cancer Genome Atlas data confirmed the association of only CDKN2A mutations with OSCC progression at the age of 45 years (N = 18, p = 0.049), but not in older patients (N = 109). This work revealed genetic alterations associated with the progression of early-onset OSCC, which require confirmation of their significance in a larger sample of patients and an assessment of their functional significance.
67-77
Cytogenetic monitoring of enterprise workers in contact with radionuclides
摘要
Buccal micronucleus cytome assay (BMCA) using the accumulation index (Iac) of cytogenetic damage is currently one of the best methods of cytogenetic monitoring. The personnel of the enterprise having contact with radionuclides were examined twice with an interval of one year. Three groups were examined: group 1, not in contact with harmful factors (control); group 2, in contact mainly with the chemical factor, group 3, in contact mainly with the radiation factor (the annual accumulated dose is low – up to 5.2 mSv). An integral indicator of harmfulness was calculated, also taking into account the severity and intensity of the work process. In group 3, it is twice as high as in group 2. The average frequencies of cells with cytogenetic damages (micronuclei and nuclear protrusions) in the control group are 1.78 ± 0.27‰ и 2.25 ± 0.40‰ (2021 and 2022), in group 2 – 1.64 ± 0.70‰ и 1.86 ± 0.34‰; in group 3 – 2.81 ± 0.71‰ и 2.91 ± 0.60‰ respectively. The index of accumulation of cytogenetic damages in the group of personnel in contact with radionuclides is 1.2–2.2 times higher than in the other two (p < 0.05). A repeat examination of the personnel a year later confirmed that the identified patterns are not random. Comparison of the BMCA biomarkers shows their good agreement at the two examination periods and with the data of a previously conducted examination at another radiation facility. The presented approach is a convenient tool for assessing the negative impact of environmental factors at the group and individual levels.
77-88
VNTR polymorphism of the AS3MT gene modifies the association of age of onset of schizophrenia with pre- and perinatal hypoxia
摘要
The interaction of environmental factors and genetic predisposition factors can action not only the risk of developing schizophrenia, but also its course and functional outcome. Hypoxia in the prenatal and perinatal period is an important environmental risk factor. It can lead to disruption of the brain development and nervous system in the fetus and newborn and, as a consequence, to the development of psychopathology at a later age. In turn, the VNTR polymorphism of the AS3MT (arsenite methyltransferase) gene plays an important role in regulating the expression of the unique AS3MTd2d3 isoform, which is a potential risk factor for the development of schizophrenia. In our work, we studied the effect of interaction between hypoxia and VNTR AS3MT on one of the clinical characteristics of the disease – the age of onset of schizophrenia. The study included 520 patients with schizophrenia from the Russian population, including 170 people who had a history of hypoxia in the prenatal or perinatal period. It was found that women with a history of hypoxia and the V2/V2 genotype have an earlier age of disease onset associated with a poor prognosis of the disease.
89-95
КРАТКИЕ СООБЩЕНИЯ
Genetic variability of the Mongolian gerbil Meriones unguiculatus in the Northwestern part of the range
摘要
The variability of two mitochondrial genome markers: cytochrome b gene (cytb) and I subunit of cytochrome oxidase gene (COX1) was studied for the first time in populations of the north-western part of the Meriones unguiculatus range. Phylogenetic and phylogeographic analyses were carried out on the basis of both our own and molecular data deposited in the world databases. The level of genetic variability and differentiation of the Mongolian gerbil in the studied region based on COX1 polymorphism were assessed. It has been suggested that the populations of the northwestern part of the range of M. unguiculatus were formed due to rapid expansion from one or several small ancestral populations from the east to the west in the Middle Holocene.
96-102
Analysis by minigene assay of the splicing effect of a novel variant c.1545T>G in the SLC26A4 gene associated with hearing loss
摘要
Pathogenic variants in the SLC26A4 gene (OMIM #605646, 21 exons), encoding the transmembrane protein pendrin, are one of the most significant genetic causes of hearing loss. It is known that about 25% of all pathogenic SLC26A4 variants, which are localized in both intronic and exonic gene regions (near the exon–intron boundaries), lead to aberrant splicing. A detailed analysis of the SLC26A4 gene in Tuvinian patients with hearing loss (the Tyva Republic, Southern Siberia) revealed a specific spectrum of variations, including both already known pathogenic variants and novel variants with unclear clinical significance. One of the novel variants, c.1545T>G, is localized at a position that is potentially «sensitive» to splicing (the 1st nucleotide in exon 14). The segregation of this variant with hearing loss observed in the pedigrees of patients and the significant increase in the frequency of c.1545T>G in the sample of patients compared to the control sample indicate its pathogenic significance. The aim of this work is to analyze the effect of novel variant c.1545T>G of the SLC26A4 gene on the splicing process using minigene assay. A system of minigenes was created, including the analyzed variant c.1545T>G, and the wild-type variant. The study was carried out on HEK293T cell line and repeated on HeLa and SW480 cells. Comparative analysis of splicing patterns in minigenes with variant c.1545T>G and with wild type did not reveal any differences. Thus, variant c.1545T>G of the SLC26A4 gene does not lead to splicing disruption, and its pathogenic effect may be due to the substitution of phenylalanine (Phe) for leucine (Leu) at amino acid position 515 (p.Phe515Leu) of the pendrin protein.
103-109
PERSONALITIES
On the 60th anniversary of the birth of Academician of the Russian Academy of Sciences Vadim Anatolyevich Stepanov
110-111
ERRATUM
Erratum to the article “Chromosomal polymorphism of malaria mosquitoes of Karelia and expansion of the northern boundaries of species ranges” in Genetics, 2024. Vol. 60. No. 6. Pp. 62–71. (doi:10.31857/S0016675824060066)
摘要
На странице 62 – в шапке статьи следует читать:
А. В. Москаев1, 2, А. Г. Бега1, 3, В. И. Панов1, В. П. Перевозкин4, М. И. Гордеев1, *
1Государственный университет просвещения, Московская область, Мытищи, 141014 Россия
2Российский государственный университет народного хозяйства им. В.И. Вернадского, Московская область, г. Балашиха, 143907 Россия
3Институт общей генетики им. Н.И. Вавилова Российской академии наук, Москва, 119991 Россия
4Томский государственный педагогический университет, Томск, 634061 Россия
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