Russian Journal of Genetics最新文献

{"title":"Analysis of the Involvement of Susceptibility Genes to Coronary Heart Disease in Implementation Signaling and Metabolic Pathways","authors":"N. Yu. Chasovskikh, E. E. Shestakova","doi":"10.1134/s1022795424040045","DOIUrl":"https://doi.org/10.1134/s1022795424040045","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Coronary heart disease (CHD) is a common pathology, and its development is mediated by a large number of genetic factors, environmental factors, and their combinations. In this regard, the objective of the study was a bioinformatic analysis of the involvement of susceptibility genes to CHD in the implementation of signaling and metabolic pathways. The list of susceptibility genes was compiled using GWAS, DisGeNET, and GeneCards databases. Pathway enrichment analysis was performed using the ClueGO v2.5.9 Cytoscape v3.9.1 plugin. As a result of the study, it was established that these genes are involved in the implementation of various mechanisms of development of CHD, including disorders of lipid metabolism, changes in the activity of elements of the complement system, and endothelial function. Hereditary factors can influence changes in the processes of regulation of thrombus formation, vascular tone, the balance of pro- and antioxidant factors, endothelial permeability, and water and sodium adsorption, as well as the processes of angiogenesis. In this case, the genes under study may be involved in the implementation of one or several signaling/metabolic pathways.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"8 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140889044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Toll-Like Receptor Gene Polymorphisms in a Population-Based Study of HIV and Tuberculosis Patients from Eastern Europe and Central Asia","authors":"S. A. Salamaikina, V. I. Korchagin, K. O. Mironov, E. I. Kulabukhova, V. N. Zimina, A. V. Kravtchenko","doi":"10.1134/s1022795424040124","DOIUrl":"https://doi.org/10.1134/s1022795424040124","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Genetic diversity of human populations is determined by polymorphic variants of immune response genes and can be linked to the variation in responses to infectious agents. This study compared allele and genotype frequencies of polymorphic variants of the <i>TLR1</i>, <i>TLR2</i>, <i>TLR4</i>, <i>TLR6</i>, and <i>TLR8</i> genes between samples from Eastern Europe and Central Asia. We included 680 unrelated individuals from Eastern Slavic (<i>n</i> = 308), Armenian (<i>n</i> = 137), Tajik (<i>n</i> = 138), and Kyrgyz (<i>n</i> = 97) samples of patients with confirmed diagnoses of HIV and tuberculosis. The international 1000 Genomes Project data—samples of Caucasians (EUR) and countries of eastern (EAS) and southern (SAS) Asia—were used for comparison. Despite the lack of genetic diversity and population differences in allele frequencies of the analyzed genes, the samples differed in a number of loci both from each other and from EAS and SAS samples.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"43 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140888655","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytochromes P450 2F and Genes of Behavioral Traits: Covariations of Expression in the Human Brain and Polymorphism of the Orthologs in Domestic Goats","authors":"A. K. Piskunov, P. M. Marchenko, G. R. Svishcheva, J. V. Samsonova, A. V. Kudryavtseva, Yu. A. Stolpovsky, V. N. Voronkova","doi":"10.1134/s1022795424040112","DOIUrl":"https://doi.org/10.1134/s1022795424040112","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Human cytochrome P450 2F1, as well as its ortholog 2F3 in domestic goat, is considered to be a rather unusual enzyme. The only type of reaction it catalyzes has been described: the conversion of skatole, a product of anaerobic tryptophan metabolism, into a pulmonary toxin. Endogenous substrates of CYP2F are unknown, and although more than 30 years have passed since the discovery of the enzyme, its biological role remains unclear. We hypothesized that the physiological functions of CYP2F can be specifically implemented in the brain, remaining previously unnoticed owing to the high compartmentalization of the organ. Using open data, we studied the covariation of the expression of <i>CYP2F1</i> and genes for behavioral traits: in the human brain, as well as the polymorphism of their orthologs and <i>CYP2F3</i> in 180 populations of domestic goats (<i>Capra hircus</i>). Two SNPs were found in the <i>CYP2F3</i> gene, one of which had pronounced traces of selection, and the frequency of homozygotes increased with geographic distance from the center of domestication. Expression of <i>CYP2F1</i> mRNA in the human brain also had regional specificity. In both species, factor analysis revealed the relationship between CYP2F1/3 and a number of genes regulating behavior: the serotonin transporter <i>SLC6A4</i> and its receptor <i>HTR2A3</i>, the <i>ABCB1</i> transporter, the purine receptor <i>P2RX7</i>, the GABA receptor <i>GABRA4</i>, the circadian rhythm regulator <i>PER3</i>, and T-cadherin <i>CDH13</i>. Thus, analysis of the genomic data of the domestic goat and human transcriptomic data revealed the evolutionary and functional relationships of CYP2F cytochromes and neurochemical systems for regulating behavior. This evidence of the cerebral function of the enzyme is indirect, since it is based on correlation analysis, but indicates the promise of further search in this direction.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"153 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140889961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Y-chromosomal STRs Mutation Rates in the Yakut Population","authors":"D. S. Adamov, S. A. Fedorova","doi":"10.1134/s1022795424040021","DOIUrl":"https://doi.org/10.1134/s1022795424040021","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The fine structure of the Y chromosome haplogroup N3a2-M1982 has been described on the basis of complete sequencing data of 23 men, indigenous residents of Yakutia, taking into account both SNP and STR mutations. The mutation rate of the Y-chromosomal STR loci in the Yakut population was calibrated using radiocarbon dating of a sample of a medieval man, Yana Young, found in the lower reaches of the Yana River in Yakutia. Our estimates of the mutation rate in 23 STR loci haplotypes of the N3a2-M1991 branch using three different calculation options (0.0032, 0.0024, 0.0032) turned out to be slightly lower than the global average value according to YHRD data (0.0033) and higher than the average “genealogical” mutation rate (0.0021), but within the confidence interval, they do not contradict modern ideas about STR mutations rate of the Y chromosome.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"284 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140888661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Origin, Genetic Diversity, and Migration Routes of Cultivated Emmer Triticum dicoccum","authors":"A. V. Fisenko, A. Yu. Dragovich","doi":"10.1134/s1022795424040069","DOIUrl":"https://doi.org/10.1134/s1022795424040069","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>In a period of considerable climate and environmental changes, and constant population growth, new effective approaches to wheat breeding are required, in particular, thorough the study of genetic and genomic diversity, as well as the origin and migration routes of species genetically close to bread wheat, which could be donors of genes that control economically important traits. These species include cultivated emmer <i>Triticum dicoccum</i> (Schrank) Schübl. with A and B subgenomes (2<i>n</i> = 28), similar to the corresponding subgenomes of hexaploid bread wheat. The review examines the issues of genetic and genomic diversity of cultivated emmer, its domestication, and distribution routes. The characteristics of some <i>T. dicoccum</i> genes introduced into bread and durum wheat, or promising for further use in breeding programs, are discussed.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"162 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140888832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression Profile and Relationships between microRNAs as Biomarkers in COPD Patients","authors":"N. Moattar-Husseini, N. Bahrami, F. Hosseini, H. Jamaati, M. Kazempour-Dizaji, Sh. Shafaghi, S. Noorali, A. Mohamadnia","doi":"10.1134/s1022795424040082","DOIUrl":"https://doi.org/10.1134/s1022795424040082","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Chronic obstructive pulmonary disease is a chronic inflammatory lung disease that causes airflow obstruction in the lungs. In fact, it is a lung disease that can cause involvement of respiratory tracts, lung tissue or blood vessels. There is still no accurate diagnostic tool for COPD. Among various biomarkers, the current review focuses on different types of miRNAs in COPD which have been studied. Many target cells and molecules, microRNAs are involved in the pathogenesis of COPD. MicroRNAs are a group of protected short single-stranded RNAs between 19 and 23 nucleotides and non-coding, which act as post-transcriptional regulators in animals, plants and viruses. In this article, the aim is to collect and categorize the studies conducted in the field of microRNA as biomarkers in COPD patients.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"161 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140888656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Transposable Elements in Long-Term Memory Formation","authors":"R. N. Mustafin, E. K. Khusnutdinova","doi":"10.1134/s1022795424040094","DOIUrl":"https://doi.org/10.1134/s1022795424040094","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>A number of experimental studies are described that challenge the significance of synaptic plasticity and prove the role of transposable elements in memory consolidation. This is due to the <i>cis</i>-regulatory influence of activated transposable elements on gene expression, as well as insertions into new genomic loci near the genes involved in brain functioning. RNAs and proteins of endogenous retroviruses are transported to dendritic synapses and transmit information to change gene expression in neighboring cells through the formation of virus-like particles in vesicles. Because of this, the relationship between synaptic plasticity and nuclear coding is ensured, since transposable elements are also drivers of epigenetic regulation owing to the relationship to the noncoding RNAs derived from them. Our analysis of the scientific literature allowed us to identify the role of 17 microRNAs derived from transposable elements in normal memory formation. In neurodegenerative diseases with memory impairment, we identified impaired expression of 44 microRNAs derived from transposable elements. This demonstrates the potential for targeting pathological transposon activation in neurodegenerative diseases for memory restoration using microRNAs as tools.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"8 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140888978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Exhaustive Structural Scrutiny and Initial Functional Appraisal of the Yak SLC11A1 Gene","authors":"L. Wang, B. Wang, Z. Gao, Y. Lu, W. Deng, D. Xi, Y. Chong","doi":"10.1134/s102279542404015x","DOIUrl":"https://doi.org/10.1134/s102279542404015x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Animal diseases pose significant impediments to the flourishing of the animal husbandry sector, due to the role of solute transport protein family 11A1 (<i>SLC11A1</i>) gene on resistance or susceptibility to bacterial infections, rendering it a promising candidate gene for breeding disease-resistant animals. Here, we successfully cloned the coding region of the yak <i>SLC11A1</i> gene. Comparative analysis against wild yaks and yellow cattle revealed the presence of 3 and 13 base variations, respectively. The N-terminal segment of the yak <i>SLC11A1</i> gene’s coding region was expressed in a prokaryotic system, the protein exhibited inhibitory activity against <i>Escherichia coli</i>, a pathogen responsible for calf diarrhea. Furthermore, we successfully amplified a gene sequence encompassing a total length of 10 306 bp, and revealing the presence of 15 exons and 14 introns. Within the entire sequence, 14 SNPs were detected, and gave rise to 13 haplotypes. Furthermore, comparative analysis against cattle sequences (KR002419) unveiled two deletion sites, namely g.4511delACCCCACC and g.6410delCAGGT. This comprehensive examination provides insight into the structural attributes of both the coding region and the entire gene sequence, alongside an initial functional evaluation. It lays the foundation for the prospective utilization of the yak <i>SLC11A1</i> gene as a molecular marker for disease resistance traits.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"112 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140889116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phylogeographic Structure of Alexandromys maximowiczii Schrenck, 1859 (Rodentia, Cricetidae): A Comparison of the mtDNA Control Region Variability and Chromosome Polymorphism Data","authors":"I. N. Sheremetyeva, I. V. Kartavtseva, M. V. Pavlenko, U. V. Gorobeyko, Yu. A. Bazhenov, I. V. Moroldoev, L. L. Voyta","doi":"10.1134/s1022795424040136","DOIUrl":"https://doi.org/10.1134/s1022795424040136","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Genetic structure of the Maximowicz’s vole <i>Alexandromys maximowiczii</i> was assessed using data on the mtDNA control region variability, and the high level of genetic variability was revealed for the species as a whole. Three phylogenetic groups (“east,” “west,” and “south”) were distinguished, and within the “east” group, three subclades (“Chit,” “Amur,” and “Khab”) were identified. All phylogenetic groups and subclades were characterized by mainly allopatric geographical distribution across the species range with one “hybrid” sampling found in the vicinity of the settlement of Savvo-Borzya (Zabaykalsky krai), the individuals of which had different variants of the mt genotype. One individual carried the “west” variant, and the second one—the “east”/“Amur” variant. The revealed phylogeographic structure was generally congruent with the differentiation pattern as revealed by the chromosomal forms, but did not agree with the previously accepted subspecies system. Complex intraspecific subdivision of the Maximowicz’s vole, revealed at different organization levels (molecular genetic, as well as chromosomal), reflects not only complex geography of the study area, but also the history of dynamic changes in the natural environment.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"23 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140888599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LINE-1 Methylation Index Correlates with Sister Chromatid Exchanges and Chromatid but Not Chromosome Aberrations in Personnel from a Nuclear Chemical Facility with Incorporated Plutonium-239","authors":"S. A. Vasilyev, E. N. Tolmacheva, E. A. Sazhenova, N. N. Sukhanova, Yu. S. Yakovleva, N. B. Torkhova, M. B. Plaksin, I. N. Lebedev","doi":"10.1134/s1022795424040148","DOIUrl":"https://doi.org/10.1134/s1022795424040148","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The level of chromosomal abnormalities in the somatic cells of adult individuals is characterized by significant interindividual variability, which may be partly affected by the genetic and epigenetic background. The epigenetic landscape in cells is largely determined by genome methylation. This study aimed to analyze the relationships between global genome methylation and the frequencies of chromosome abnormalities in lymphocytes of plutonium workers. The frequencies of chromosome aberrations, micronuclei, aneuploidy of chromosomes 2, 7, 8, 12, X, and Y and sister chromatid exchanges were analyzed in the lymphocytes of 40 male workers from a nuclear chemical facility (Seversk, Russia) with incorporated plutonium-239 and 49 healthy male volunteers who had no occupational exposure to ionizing radiation. The long interspersed nuclear elements-1 (LINE-1) methylation index was assessed as a well-known marker of global genome methylation. The frequencies of centromere-negative micronuclei (4.74 ± 2.26 vs. 3.02 ± 1.69‰), chromosome-type aberrations (0.81 ± 0.79 vs. 0.44 ± 0.69%), and total chromosome non-disjunction (0.93 ± 0.43 vs. 0.50 ± 0.25%) were significantly higher in the group of workers than in controls (<i>p</i> &lt; 0.05). The LINE-1 methylation index did not differ significantly between the worker and control groups (74.93 ± 3.63 vs. 73.92 ± 4.62%). Correlations between LINE-1 methylation and the frequency of micronuclei (<i>R</i> = –0.35, <i>p</i> = 0.031) were observed in the control group, whereas correlations of LINE-1 methylation with chromatid-type aberrations (<i>R</i> = –0.42, <i>p</i> = 0.012) (but not chromosome-type aberrations) and with sister chromatid exchanges (<i>R</i> = –0.53, <i>p</i> = 0.004) were observed only in the group of plutonium workers. Thus, LINE-1 hypomethylation after plutonium exposure is associated mainly with chromatid breaks, either repaired or misrepaired.</p>","PeriodicalId":21441,"journal":{"name":"Russian Journal of Genetics","volume":"11 1","pages":""},"PeriodicalIF":0.6,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140888657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}