Genetika

The article presents an analysis of the literature data on the structure and functions of vitamin D-binding protein (DBP), which is controlled by a single gene with three clearly defined alleles Gc1-F, Gc1-S, and Gc2. The article presents information on various structural and functional variants of DBP, which are determined genetically and can undergo post-translational modification by glycosylation. One of the derivatives of DBP is its partially deglycosylated form, which exhibits properties of a specific activator of macrophages and is designated as the GcMAF factor. The article pays special attention to rare forms of DBP, detected by the isofocusing method. An assumption is made about the nature of rare forms of DBP and the mechanism of occurrence of changes underlying the appearance of these forms.

Oxidative stress in a cell is an imbalance between reactive oxygen species (ROS) and the ability to inactivate oxidants and restore damaged molecules. Oxidative stress is involved in the pathogenesis of many human diseases. Lactobacilli, being permanent components of the human intestinal microbiota, are able to reduce the manifestations of oxidative stress in a macroorganism and are used as pharmabiotics in the treatment of diseases caused by it. The strain Levilactobacillus brevis 47f was isolated from the human intestine, studied in vitro and in vivo and is a potential probiotic with antioxidant action. The mechanisms determining the response of the strain to oxidative stress remain poorly understood. The objective of this work was to investigate the reaction of the L. brevis 47f strain to oxidative stress caused by hydrogen peroxide and oxygen using quantitative proteomic analysis. When exposed to both oxidants, the viability of the strain cells remained virtually unchanged, but both oxidants caused significant, but different, changes in the expression of proteins. Oxygen had a stronger effect on the strain than hydrogen peroxide. Under the action of peroxide, stress response proteins were mainly activated, while under the action of oxygen, significant changes in metabolism occurred.

The article presents an analysis of the secondary, tertiary structures and conformation changes in 3D protein models as a result of spontaneous mutations in genes associated with maize (Zea mays L.) gynogenesis and embryogenesis. In particular, it was found that the of four-nucleotides insertion into the Zm_Mtl/Nld/Pla1 gene sequence leads to substitution of two α-helices with an unstructured section and a change in the amino acid composition of one of the β-folds in haploid-inducing (Stock 6, ZMS-8, ZMS-P) maize lines. The SNP at 131 position from the Zm_Dmp7 gene starting codon change the α-helix position in the haploid-inducing line CAU5 change, unlike the ZMS-8 line, which has a similar SNP and two additional amino acid substitutions. On the other hand, the SNP in the Zm_Bbm1 gene from parthenogenetic line AT-4 and Zm_CenH3 gene of haploid-inducing (ZMS-8, ZMS-P), and control (KM) maize lines do not lead to the amino acid substitutions in the corresponding proteins.

The study of animal biodiversity is an important task of fundamental biology. Population genetic studies of domesticated species provide information on the history of the species and the current status of genetic resources. The goat is one of the first domesticated animal species widely used in agriculture and is also of interest as a subject of population studies. The species is characterized by a wide biodiversity, represented by native and transboundary breeds. In our country, the majority of goats are kept on small private farms, where the animals have not been subjected to the rigorous process of artificial selection and are in fact a unique object for research. Local populations carry a genetic resource of traditional systems of nature management, and their gene pool may contain genetic traces of the disappeared breeds of folk selection. This is also of particular interest due to the presence on the territory of the country of unexplored ancient migration routes and proximity to the centers of domestication. Unlike pedigree-down goats, whose populations are located near the southern and south-eastern borders of the country, the genetic diversity of animals from the main, central part of the country has not been characterized before. At the research station of IOGEN RAS "Shakhovskaya"a population was formed on the basis of animals kept in the traditional way on private farms in rural areas on the border of Moscow, Tver, and Smolensk. In this article, population genetic analysis of this population and populations from two mining and factory districts of the Urals is carried out, as well as their comparison with existing factory breeds of different productivity direction.

This article proceeds with the study of the mechanisms of primary genetic divergence of migratory-coupled populations. The modeling is based on the experiment performed by Yu.P. Altukhov and co-authors with box populations of Drosophila melanogaster. This experiment demonstrated the primary divergence of the genetic structures of the subpopulation for two loci – markers of genetic diversity (α-GDH and esterase-6). Previously, we showed that disruptive selection acted with a high probability for the α-GDH locus in the experimental system, which ensured the maintenance of the observed primary genetic divergence. This work is devoted to identifying the mechanisms that contributed to the primary genetic divergence for the esterase-6 locus. We analyzed mathematical models with discreet time for the dynamics of allele frequencies in a large panmictic population and in a system of 30 local migratory-coupled populations. Comparison of the simulation modeling results with the experimental ones allows us to conclude that, with a high probability, in the experimental population system under consideration, frequency-dependent selection at the esterase-6 locus acted against the background of density-dependent selection. With uniform selection in subpopulations connected by small migrations, this type of selection is shown to promote divergence, and genetic divergences in neighboring populations are significantly more pronounced than they could be under conditions of genetic drift.

The aim of the study was to assess the associations between TBI and symptom severity in patients with schizophrenia, taking into account the modulating influence of polymorphisms of pro- and anti-inflammatory interleukins genes. The study included 1157 patients with schizophrenia (ICD-10 items F20, F21, F23.1, F25.). 452 patients had a history of TBI, 538 patients denied TBI. The severity of schizophrenia symptoms was measured using the PANSS. Three polymorphisms located in the promoters of the genes encoding interleukins IL-4 (C-589T) rs2243250 and IL-10 (C-592A) rs1800872 were selected for the genetic study. A mutual effect of TBI and the interleukin gene variants IL-4 (C-589T) rs2243250 and IL-10 (C-592A) rs1800872 on the severity of schizophrenia symptoms was found. In particular, in the group of CC IL-4 (C-589T) genotype carriers, the severity of negative and general psychopathological symptoms was higher than in carriers of the T allele. The IL-10 (C-592A) rs1800872 polymorphism modified the effect of TBI on general psychopathological, but not positive or negative symptoms of schizophrenia. The severity of these symptoms was higher in carriers of the CC genotype compared to carriers of the A allele. In patients without TBI, the polymorphisms did not have a significant effect on the phenotype. Thus, our study has shown for the first time that the presence of a history of TBI and the patient's genetic characteristics negatively affect the severity of schizophrenia.