Vol 61, No 9 (2025)
ОБЗОРНЫЕ И ТЕОРЕТИЧЕСКИЕ СТАТЬИ
Genetic Factors of Polymorphic Teratozoospermia Development in Humans
Abstract
Nonspecific (polymorphic) teratozoospermia is a common male fertility, when the proportion of morphologically normal spermatozoa is lower than the reference values, while several types of morphological abnormalities of spermatozoa in different proportions are observed in the ejaculate sample. Polymorphic teratozoospermia is known to be resuled from both negative environmental and lifestyle factors, as well as the presence of pathogenic variants of certain genes. However, little attention is paid to the study of the genetic causes of polymorphic teratozoospermia. In this review, for the first time, as a result of an analysis of the published literature, as well as information from the databases Malacards, OMIM, KEGG, CTD, and DisGeNET, the evidence on 85 pathogenic variants of 51 genes related to the development of polymorphic teratozoospermia in humans has been obtained and systematized. According to the functional annotation of genes and the analysis of published literature, the products of these genes are involved in the organization of the components of the cytoskeleton of the spermatid – acroplaxome and perinuclear theca, which ensure the formation of the acrosome and the interaction of the acrosome vesicle with the nucleus, as well as intracellular transport of molecules, regulation of protein expression and degradation, and chromatin rearrangement during spermiogenesis. In addition, pathogenic variants of some genes lead to a decrease in the effectiveness of the natural antioxidant protection of cells and, as a result, the manifestation of teratozoospermia. This information can be useful for the diagnosis and choice of treatment tactics for polymorphic teratozoospermia, which can be caused by both genetic causes and the influence of negative environmental and lifestyle factors.
3-22
Associations of APOE Genetic Isoforms with Longevity and Risk of Mortality in Human Populations
Abstract
The influence of hereditary factors on life expectancy up to 60 years of age is rather insignificant, but increases at older ages. Identification of the association of genetic variants with life expectancy and susceptibility to age-related diseases is necessary in the context of genetic heterogeneity of human populations living in different environmental conditions. In this regard, the apolipoprotein E (APOE) gene is of particular interest. This review analyzes the role of different APOE alleles/genotypes for age attainment and associations with longevity in human populations. The ε4 allele is a strictly established genetic risk factor for Alzheimer's disease (AD) in Eurasian populations, and its frequency is significantly reduced in most longevity groups compared to the general population. The rarer ε2 allele is associated with a reduced risk of AD and longevity, as it is more frequent in most longevity groups than in healthy middle-aged individuals. It is of interest to determine whether the different representation of APOE alleles in long-livers, compared with the general population, is dependent or independent of the effect of APOE on the risk of AD or other diseases; what is the role of the APOE genotype on late-life attainment in African populations living in a different setting and in whom a strict association of the ε4 allele with AD has not been found. The questions of at what biological age the ε4 and ε2 alleles have a significant effect on mortality risk are addressed, as well as the role of genetic factors that have a negative or positive effect on the manifestation of the ε4 allele and associated life expectancy.
23-39
Antirestriction proteins: structures, functions and application prospects
Abstract
Restriction-modification (RM) systems play a crucial role in protecting prokaryotes from the foreign DNA. Genes encoding antirestriction proteins such as ArdA and ArdB are often among the first genes to enter the cell upon infection. Recent studies demonstrated that DNA-mimicking ArdA proteins exhibit specificity to RM systems, meaning they can mimic specific DNA sequences. Moreover, this specificity can be achieved using recently discovered very small DNA-mimicking proteins called sArdA. This suggests promising applications for these DNA-mimicking “almost peptides” in specifically interacting with DNA-binding proteins to regulate intracellular processes. Another class of antirestriction proteins ArdB, appears to act as a universal DNA-binding agent, inhibiting restriction activity of all known type I RM systems, as well as CRISPR/Cas3. These findings could potentially enhance transformation efficiency in hard-to-transform strains.
40-46
МОЛЕКУЛЯРНАЯ ГЕНЕТИКА
Effect of RNA Interference-Induced Knockdown of the Actin Gene on Mortality of the German Cockroach, Blattella germanica
Abstract
At present, the development of environmentally friendly bioinsecticides for the control of agricultural insect pests and synanthropic insect species is of particular relevance. One promising approach is to use double-stranded RNA complementary to a vital insect gene to knockdown that gene through an RNA interference mechanism, resulting in the death of the insect. Using Drosophila melanogaster as a model object, one gene, Actin 5C, was selected from six paralogous Drosophila actin genes based on the fact that knockdown of this gene in most Drosophila tissues results in insect death. A double-stranded RNA complementary to the Actin 5C gene of the German cockroach, Blattella germanica, was microinjected under the cuticle. RNA interference of this gene has been shown to kill cockroaches within few weeks. The prospects of using double-stranded RNA complementary to the Actin 5C gene as an insecticide are discussed.
47-55
ГЕНЕТИКА РАСТЕНИЙ
New Mitochondrial DNA Markers for Studying the Population Structure of Siberian and European Spruce
Abstract
Primers for amplification of six minisatellite and one microsatellite loci were developed based on the mitochondrial genome of Norway spruce. Their testing on six populations of Siberian spruce and the northern cluster of Norway spruce (120 trees) revealed from three to seven alleles. The multilocus combination of six minisatellites yielded a total of 27 haplotypes. The populations had from two to nine haplotypes, but almost no common ones, and were divided (RCT = 0.77) into three groups – European Russia, the Urals and the Siberian spruce population (Altai). In a population located at the alpine tree line in the Southern Urals, the haplotypes were not located randomly, which demonstrates the possibility of using the developed markers to identify groups of maternally related trees and study the process of tree colonization of the open areas. In the population from the southern cluster of Norway spruce (Carpathians, 24 trees), only one of the markers had stable amplification and was variable (six alleles).
56-63
Alien Genetic Loci Influence Mineral Content in Grain of Synthetic Wheat Line
Abstract
Synthetic introgression lines of hexaploid wheat (T. aestivum L.) are an important source of genetic loci for improving the mineral composition of bread wheat grain. Hybrid line 1102, obtained as a result of a complex hybridization scheme involving the species Aegilops speltoides Aegilops tauschii and Secale cereale, was used to map loci associated with the content of 10 macro- and microelements and heavy metals in grain – Ca, Mg, K, Cu, Fe, Zn, Mn, Cd, Cr, and Pb. Evaluation of parental samples used to create the mapping population (bread wheat variety Lutescens 85 and line 1102) in greenhouse and field conditions showed a reliable increase in the content of microelements Cu, Mn, Zn, Fe in the grain of line 1102 by 1.45, 1.44, 1.65 and 1.83 times, respectively comparing with varieties Lutescens 85. As a result of genotyping of the F2-3 population with SNP markers, 11 genetic loci were localized on chromosomes 2A, 2B, 3A, 3B, 4B, 5A, and 6A, significantly associated with the content of Ca, Mg, Zn, Fe, Pb and Cr in the grain. Comparison of SNP marker amplification patterns in parental samples suggests that loci QZn.1102-icg-2A, QCa.1102-icg-3A, QCr.1102-icg-3B, and QCr.1102-icg-4B may be of alien origin. The obtained results indicates that the synthetic line 1102 may contain genetic loci that promote the accumulation of toxic metals in grain such as lead and chromium.
64-77
ГЕНЕТИКА ЖИВОТНЫХ
A Minimally Invasive Method for Monitoring Age-Associated Changes in Gene Expression in Fish Nothobranchius guentheri
Abstract
Fish of the genus Nothobranchius are a unique model object of longevity genetics due to their short life span. They are especially promising for testing geroprotectors. However, the small size of the fish does not allow for dynamic evaluation of parameters reflecting aging rate and response to experimental effects on the same individual. The aim of the study was to develop an approach for minimally invasive monitoring of age-related changes in a model of Nothobranchius guentheri. The caudal fin transcriptomes of female and male Nothobranchius guentheri of different ages, including those regenerated after resection, were sequenced. Differential gene expression was analysed. Gene expression profiles in caudal fins of Nothobranchius guentheri, regenerated once or twice, do not differ significantly when compared with intact fins. The results obtained open new prospects for minimally invasive monitoring of age-dependent changes in the organism at the molecular-genetic level, including the study of potential geroprotectors.
78-85
Island Population of Feral Horses: Origin and Genetic Diversity
Abstract
For the first time, genetic analysis has confirmed the origin of a feral horse population (Equus caballus) inhabiting the Rostovsky State Natural Biosphere Reserve (Rostov Region, Russia) as descending from the Don breed, with a potential genetic contribution from the Budyonny breed. A quantitative assessment of the population’s genetic parameters was conducted, followed by a comparative analysis with data from other horse breeds bred in Russia. The island population exhibits reduced allelic diversity, including a low number of effective alleles (Ne = 2.97; Na = 4.59), decreased observed heterozygosity (Ho = 0.59), and pronounced genetic homogeneity, indicative of high levels of isolation and inbreeding. Key factors limiting the population’s genetic diversity include: a limited founder pool; geographic isolation restricting gene flow; low effective population size; repeated demographic bottlenecks throughout its historical dynamics. The findings underscore the impact of prolonged isolation and stochastic processes (genetic drift, founder effect) on shaping the unique genetic structure of island populations.
86-95
ГЕНЕТИКА ЧЕЛОВЕКА
Association of the LZTFL1 gene polymorphic marker rs73064425 with severity of COVID-19 and its allele frequencies world-wide distribution
Abstract
Coronavirus disease COVID-19 is an infectious viral disease that has rapidly spread throughout the world and developed into a global pandemic in 2020. The clinical spectrum of COVID-19 is diverse and range from asymptomatic infection to respiratory failure and death. The etiology of COVID-19 clinical course is not well understood. The role of many factors is assumed, including the genetic characteristics of the individual. Replicative association analysis COVID-19 severity with the single nucleotide variant (SNV) rs73064425 of the LZTFL1 gene was performed. According to GWAS this SNV is associated with COVID-19 severe form. The polymorphism rs73064425 was showed a significant association with COVID-19 severe form in the Russian population of Tomsk. Possible mechanisms of the studied SNV involvement in the disease pathogenetics are discussed. Frequencies variability of the risk allele T rs73064425 was found in populations of the world.
96-105
МЕТОДИКИ
Development of the multiplex genotyping method of single-nucleotide polymorphisms of genes associated with the severity of COVID-19
Abstract
COVID-19 is a severe acute respiratory infection caused by the SARS-CoV-2 virus. Research in the field of host genetics contributes to the discovery of new genomic markers of coronavirus infection progression. In this article, a method for multiplex genotyping of polymorphic variants of genes associated with the severity of COVID-19 has been developed, based on multilocus PCR and MALDI-TOF mass spectrometry of DNA molecules. The frequencies of 45 single nucleotide polymorphisms of COVID-19 candidate genes in a population sample of Russians from Tomsk are characterized. The results are compared with data for populations from the 1000 Genomes Project.
106-118

