


Vol 60, No 9 (2024)
ОБЗОРНЫЕ И ТЕОРЕТИЧЕСКИЕ СТАТЬИ
Another unsolvable problem and axiom of biology: it is impossible to deduce the properties of cells in an organism from the properties of individual cells
Abstract
Within a brief commentary, the problem of unpredictable “emergent” properties of complex biological systems arising from interactions between their individual components is discussed. We draw attention to the fundamental impossibility of determining the state of the cell within the organism based on the data obtained after its separation from the multicellular system. Briefly considered are the current state of research on the history of the emergence of multicellularity and the complexity it has introduced into the discussion of the evolution of life on Earth. An axiom is proposed summarizing existing data, asserting that properties of multicellular organisms emerge at each level of organization that are unpredictable based on the properties of individual modules and cells. It is not possible to derive from the properties of individual cell components their properties in the whole organism.



ОБЩАЯ ГЕНЕТИКА
Nematode Caenorhabditis elegans as an object for testing the genotoxicity of chemical compounds
Abstract
In connection with the requirements of International and national organizations to comply with the principles of humanization of experiments using animals, alternative test systems are being searched and tested to replace animals in ecological, toxicological and genotoxicological studies. One such alternative may be the nematode Caenorhabditis elegans, which has a biotransformation system of chemical compounds similar to the mammalian system. The genotoxicity of the pesticides paraquat and the antibacterial agent furacilin was studied on C. elegans by horizontal gel electrophoresis of total DNA in order to assess its integrity. It has been shown that paraquat in concentrations of 0.01 to 0.05 mol/l and furacilin f in concentrations of 0.0001 and 0.00025 mol/l, caused DNA breaks in nematode cells. The antioxidant N-acetylcysteine at a concentration of 0.01 mol/l reduced the genotoxicity of both compounds.



МОЛЕКУЛЯРНАЯ ГЕНЕТИКА
Combination of histological and transcriptomic approaches for cell types annotation in non-model organisms by example of spiny mice Acomys cahirinus
Abstract
In mammals, cartilage tissue has a low potential for regeneration. Typically, the defect site is replaced by connective tissue. The Acomys cahirinus mouse is a relatively new model for studying tissue regeneration processes, specifically the elastic cartilage of the auricle. To investigate the molecular genetic mechanisms responsible for these processes and gain insight into the cellular and tissue composition of the intact auricle, we utilized the method of single-cell RNA sequencing (scRNA-seq). This method enables quantification of gene expression in the sample and modeling of cell clustering based on expression profiles. This allows for assessment of sample heterogeneity in terms of specific cell populations. Annotation of cell types, particularly in non-model organisms, should be supported by classical morphological studies to allow for more detailed identification of cell populations. This is necessary to separate clusters of cells that are grouped statistically based on similar expression profiles of a group of genes into smaller subpopulations. The objective of this study was to annotate all cell types present in the intact Acomys cahirinus auricle using a combination of transcriptomic approaches and classical histology methods. The study resulted in the annotation of 24 cell clusters based on known marker genes and by comparing genetic and morphological data.



ГЕНЕТИКА МИКРООРГАНИЗМОВ
Novel ToxA Insertion Element in Pyrenophora tritici-repentis
Abstract
Pyrenophora tritici-repentis is the causative agent of tan spot in wheat. Among the necrotrophic effectors produced by the fungus, the most studied is the necrosis-inducing protein toxin Ptr ToxA, encoded by the ToxA gene. Previously, we identified 10 strains of P. tritici-repentis from Kazakhstan and Russia, the amplified fragment of which with ToxA-specific primers turned out to be larger than expected. Sequencing of these fragments of three P. tritici-repentis strains revealed the presence of a 170 bp insertion element PtrHp2 located in exon 2 of the ToxA gene. The PtrHp2 sequence includes three pairs of mutually complementary regions of 16, 8 and 6 bp in length, forming a hairpin-type secondary structure. The inability of P. tritici-repentis strains possessing PtrHp2 in the ToxA gene to cause necrosis on the leaves of cv. Glenlea, which differentiates the presence of Ptr ToxA in the pathogen has been established. This fact indicates a violation of the expression of the mutant ToxA gene. However, the mutant ToxA gene with PtrHp2 is retained in 45% of the fungal mitotic progeny. The fragments homologous to the PtrHp2 are found in non-coding parts of ToxB gene and its homologues in P. tritici-repentis strains, as well as in the genomes of other fungi. This observation indicates the transposon nature of PtrHp2.



ГЕНЕТИКА РАСТЕНИЙ
Polymorphisms in the transit peptide of phytoene synthase ZmPSY1 link to the white color of grain endosperm in maize inbred lines
Abstract
The yellow and orange color of Zea mays L. grain is determined by the presence of carotenoids, the first enzyme of the biosynthesis pathway of which is phytoene synthase PSY. In this study, we analyzed allelic variants of the ZmPSY1 gene in accessions of yellow-grain and white-grain maize inbred lines of domestic selection. In four lines with different grain colors, full-length ZmPSY1 cDNAs were amplified and sequenced, and their variability was characterized. In the cDNA sequence of ZmPSY1 from white-grain lines, nonsynonymous SNPs were found that lead to substitutions of four amino acid residues (L47I, W52S, E53D and A54V) in the N-terminal transit peptide responsible for the plastid localization of the enzyme. A primer system has been developed for PCR identification of the ZmPSY1 allele type in maize accessions. Testing of primers on 44 maize lines showed the presence of the wild-type ZmPSY1 allele and the absence of the mutant allele in the genome of all 22 yellow-grain lines analyzed. The mutant ZmPSY1 allele was detected in the genome of 41% of the 22 tested white-grain lines. The use of the developed primer system may be promising in the selection of corn with altered carotenoid content in the grain endosperm.



Genetic evaluation of Juniperus Communis var. oblonga (Cupressaceae) in Caucasus Regions of Russia based on nSSR Markers
Abstract
Ten populations of Caucasian juniper J. communis var. oblonga were analyzed using seven microsatellite nSSR loci to draw conclusions about migration routes and genetic relationships with populations in the northern part of their range. These new data were combined with data previously obtained from the main Eurasian range. The results of nSSR analysis confirm the data on the cpDNA structure of J. communis var. oblonga about the existence of a deep divergence between the populations of the eastern part of the Greater Caucasus and the populations of the main range, which is likely due to the long-term isolation of juniper in this part of the Caucasus. At the same time, the results indicate the existence of a juniper gene flow from the main range towards the Western Caucasus, which was more intense with seeds. The migration routes of birds established during interglacial periods contributed to the dispersal of seeds over long distances and contacts of juniper from the main part of its range with juniper in the western part of the Caucasus, which was reflected in the structure of nuclear DNA.



ГЕНЕТИКА ЖИВОТНЫХ
Haplotypic diversity of Leptidea morsei (Fenton, 1882) (Lepidoptera, Pieridae) on the northwestern periphery of the area
Abstract
The first data on haplotypic diversity in natural populations of the L. morsei in the north-east of the Russian plain and in the northern regions of the Urals have been obtained. Our interest is caused by the fact that the northwestern border of this species distribution passes here. Six haplotypes were identified, of which five were found only in the studied region. A comparative analysis of haplotypic diversity in different parts of the species range and the geographical distribution of haplotypes allowed us to draw a preliminary conclusion that the population groupings of L. morsei in the north-west of the range have greater genetic similarity with Asian populations than with isolated Central European ones. The settlement of this species to the north of the Russian Plain and the Urals in the post-Glacial epoch obviously took place along the south of the West Siberian Plain through the Southern Trans-Urals.



ГЕНЕТИКА ЧЕЛОВЕКА
Polymorphic variants of long non-coding RNA genes in the development of type 2 diabetes mellitus
Abstract
Type 2 diabetes mellitus (T2DM) is a disease characterized by increased blood glucose, formed as a result of impaired mechanisms of insulin binding to cells. DNA samples of patients with T2DM (N = 535) and healthy individuals (N = 475) were used. We identified the association of lncRNA gene loci LINC02227 rs2149954 (OR = 0.76, P = 0.0083, PFDR = 0.017), LINC00305 rs2850711 (OR = 1.43, P = 0.0017, PFDR = 0.004) and CDKN2B-AS1 rs4977574 (OR = 0.70, P = 0.0001, PFDR = 0.0003) in an additive model with T2DM. The LINC00305 gene locus rs2850711 showed association with fasting glucose level (P = 0.023), C-peptide level (P = 0.00001), LINC02227 rs2149954 and CDKN2B-AS1 rs4977574 loci showed association with hypertension. MALAT rs619586 gene polymorphism was associated with C-peptide (P = 0.017), LDL (P = 0.012) and total cholesterol levels (P = 0.01). CDKN2B-AS1 rs4977574 gene polymorphism showed association with C-peptide levels (P = 0.027). SNP LINC02227 rs2149954 was associated with obesity (P = 0.0011, PFDR = 0.008). MEG3 rs7158663 gene polymorphism was associated with post infarct cardiosclerosis (P = 0.02). ROC curve analysis showed that the studied loci and variables such as sex, age of subjects and BMI level, included in the construction of the risk calculation model, could predict the development of T2DM with a sensitivity of 98.0% and specificity of 97.0%, the area under the AUC curve was 95.30% (95%CI 93.50–97.40).



Association of long non-coding RNA genes (H19, MEG3, MALAT1, Linc00305, Linc00261, Linc02227, and CDKN2B-AS1) polymorphic loci with chronic obstructive pulmonary disease
Abstract
Chronic obstructive pulmonary disease (COPD) is a chronic lung disease resulting from dynamic, cumulative gene-environment interactions that cause lung tissue injury, alteration of its normal function and acceleration of cellular senescence. Long non-coding RNAs (lncRNAs) function as critical epigenetic regulators of various aspects of cellular senescence. The objective of the present study is to identify the association between polymorphic variants of H19 (rs3741219), MEG3 (rs7158663), MALAT1 (rs619586), LINC00305 (rs2850711), LINC00261 (rs6048205), CDKN2B-AS1 (rs4977574), and LINC02227 (rs2149954) lncRNAs genes with COPD. DNA samples from COPD patients (N = 703) and healthy individuals (N = 655) were studied in this study and polymorphic loci were analyzed by real–time PCR. Association with COPD was established with H19 (rs3741219), MEG3 (rs7158663), LINC02227 (rs2149954), MALAT1 (rs619586) and CDKN2B-AS1 (rs4977574). Polygenic analysis has allowed to identify informative gene-gene combinations that include polymorphic variants of the studied lncRNAs genes and genes encoding molecules of signaling cascades associated with cellular senescence and apoptosis. Multiple regression and ROC-analysis revealed a COPD risk predictive model, which included gene–gene combinations of lncRNAs genes and smoking index (P = 4.01 x 10-48, AUC = 0.87).



The change in the population structure of the Kursk and Voronezh Guberniya in the first half of the 20th century. Malecot’s isolation by distance
Abstract
The article presents the results of assessing the variability of parameters of the Malekot’s distance model of isolation among the population of Kursk and Voronezh guberniya from 1890–1910 to 1951–1953. Over 60 years there was an increase in the level of local inbreeding (2.8 times), root-mean-square distances between the places of birth of spouses, taking into account long-distance migrations (3.7 times) and without them (5.44 times) and a decrease in the effective population size (2.8 times), the coefficient of linear systematic pressure (4.5 times).



Dynamics of the population structure of Belgorod Oblast. Malecot’s isolation by distance
Abstract
The article presents the results of assessing the dynamics of parameters of the Maleko distance model of isolation among the population of the Belgorod region from 1978–1980 for 2016–2018. When compared with data for 1890–1910 and 1951–1953 on average for the region an increase in the root-mean-square distances between the places of birth of spouses was established, taking into account long-distance migrations (6.9 times) and without them (13.3 times), effective migration pressure (1.5 times) and a decrease in the coefficient of linear systematic pressure (11 times), the effective population size (1.3 times). The level of local inbreeding decreased significantly among the urban population and remained unchanged among the rural population. The most pronounced changes in the parameters of the isolation model by Malekot’s distance occurred in the middle – second half of the twentieth century. The differences in most indicators of the model of isolation by the Malekot’s distance between city and village, maximally expressed at the end of the 19th century, decreased over the course of generations and were practically leveled out by 2016–2018.



КРАТКИЕ СООБЩЕНИЯ
Detection of new phylogenetic lineages in the korean field mouse in the south of Sikhote-Alin based on analysis of the cytochrome b gene variability
Abstract
The variability of the cytochrome b gene in 11 individuals of Korean field mouse from the Ussuri Nature Reserve, located on the southern spurs of the Sikhote-Alin in the Przewalski Mountains, was analyzed. In the population, a high level of genetic diversity was identified due to the discovery of individuals with haplotypes of three phylogenetic lineages “Amur”, “Korea” and “Manchuria”. The majority of individuals (72.73%) in the population had “Amur” haplotypes. A significantly lower frequency of occurrence of individuals with “Korea” haplotypes in the Ussuri Nature Reserve (9.09%) compared to the previously analyzed population of the Khasansky District (38.46%) located in the very south of the Primorsky Krai was noted. In the Ussuri Nature Reserve, for the first time in the Russian Far East, two individuals with “Manchuria” haplotypes were discovered. Previously, only one finding of an individual with a similar haplotype was noted in the literature in the Heilongjiang province of Northeast China. It has been suggested that individuals with haplotypes of the “Korea” phylogroup penetrate into the south of Sikhote-Alin from South Korea, and with haplotypes of the “Manchuria” phylogroup from Northeast China.


