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Vol 59, No 11 (2023)

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ОБЗОРНЫЕ И ТЕОРЕТИЧЕСКИЕ СТАТЬИ

Genes of Hormone Receptors Affecting Egg Productivity and Reproductive Qualities of Chickens

Kulikov E.I., Malakheeva L.I., Martynova V.N., Popov V.A., Dmitrenko D.M., Kravchenko A.K., Komarchev A.S., Karapetyan R.V., Korshunova L.G., Efimov D.N.

Abstract

The egg production of chickens is a complex polygenic type of inheritance and is controlled by many genes. The laying performance of chickens is the result of a complex process regulated by the hypothalamic-pituitary-gonadal system. This review summarizes the information on the effect of polymorphisms of follicle stimulating hormone (FSHR), luteinizing hormone (LHCGR), progesterone (PR) and prolactin (PRLR) receptor genes on the egg production and reproductive performance of chickens. The data presented show that the polymorphisms of these genes are promising for use in breeding programs to improve egg production and reproductive performance of chickens.

Genetika. 2023;59(11):1203-1211
pages 1203-1211 views

Changes in Lifespan as an Integral Response to the Organism’s Immune Status and Mobile Elements Activity

Trostnikov M.V., Malyshev D.R., Pasyukova E.G.

Abstract

One of the key goals in studying the molecular and genetic basis of many pathologies is to find triggers, which could positively influence the incidence of age-dependent diseases and the rate of aging in general. A possible cause of age-dependent degradation of the organism functions inducing aging is immunosenescence. It is known that the increased activity of mobile elements observed with age may not only affect the level of genome stability, but also play a crucial role in the development of immune response. At the same time, the pivotal role of the nervous system in controlling lifespan has long been proven, and recently it has been shown that components of the machinery that regulate mobile element activity do function in the nervous system, and their functioning affects the development of neurodegenerative diseases. This mini-review presents evidence for complex aging regulation by the nervous and immune systems, involving systems that control mobile element activity and proposes a hypothetical scheme for their joint impact on lifespan.

Genetika. 2023;59(11):1212-1218
pages 1212-1218 views

ГЕНЕТИКА РАСТЕНИЙ

Localization of Chromosomal Regions Determining Magnesium and Calcium Content in Rice Varieties

Goncharova J.K., Simonova V.V., Goncharov S.V., Ochkas N.A.

Abstract

There has been a wide variation in the content of micro and macro elements, both between subspecies and within rice species and varieties. Magnesium as a cofactor is involved in more than 300 enzymatic reactions and is necessary for growth and development of both plants and humans. It affects carbohydrate and protein metabolism. Both adenosine triphosphate (ATP) production, nucleotide and glucose synthesis, and lipid oxidation regulation depend on its concentration. Calcium is also essential for the formation of cell wall structure and cell division. High concentrations of calcium change the composition and condition of red blood cell membranes and cell morphological characteristics. At the same time the variability in signs of domestic rice varieties has not yet been studied. There have been no studies on the localization of chromosomal regions responsible for the formation of traits of magnesium and calcium content in rice samples. Wide variation in calcium content (0.07–2.33%) and magnesium content in rice samples (2–14%) was established. Contrasting groups of varieties and sources by signs were identified. A search for chromosomal regions determining the quality of domestic samples was carried out using 58 molecular markers distributed across the rice genome (SSR). The data on phenotyping of native rice varieties by quality signs were used to divide them into groups with maximum trait value (1) and minimum trait value (2). The relationship between phenotypic manifestation of the trait and the genotype of the sample was established: by means of analysis of variance. Eight loci determining magnesium and calcium content in native rice varieties – were identified. The loci determining magnesium content are located on chromosomes 5, 6, 7, 8. Four loci associated with calcium content were identified two on the second chromosome and one each on the eighth and fifth chromosomes. On the fifth chromosome, it is located (RM 13, 28.6 cM) in close proximity to the RM 405 marker region (28 cM), which is connected with magnesium content.

Genetika. 2023;59(11):1219-1229
pages 1219-1229 views

Distribution and Allele Strength of Hybrid Necrosis Genes in the Genotypes of Canadian Cultivars of Spring Bread Wheat (Triticum aestivum L.)

Pukhalskiy V.A., Rubets V.S., Bilinskaya E.N., Kudryavtsev A.M.

Abstract

The occurrence of two types of cultivars of spring bread wheat of Canada that differ in their necrotic genotypes was shown. The cultivars of one type had the ne1ne1Ne2Ne2 genotype, and the cultivars of the second type had the ne1ne1ne2ne2 genotype. The Ne1Ne1ne2ne2 genotype was not found. The Ne2 genes were represented by medium strength, ms, and strong alleles, s. By pedigree analysis, the donors of the Ne2 gene were identified.

Genetika. 2023;59(11):1230-1234
pages 1230-1234 views

ГЕНЕТИКА ЖИВОТНЫХ

Causes of Morphological and Genetic Heterogeneity of White Fish Coregonus lavaretus sensu lato in the Arctic Part of the Lena River Basin

Bochkarev N.A., Sendek D.S., Zuikova E.I., Pestryakova L.A., Ushnitskaya L.A., Zakharov E.S., Everstova A.A., Zakharova N.N., Politov D.V.

Abstract

The results of the morphological and genetic analysis of populations/forms/species of tanned whitefish from the middle and lower reaches of the river are presented. Lena, and adjacent rivers. There are reasons to believe that, despite the significant heterogeneity of whitefish in Siberia, a small number of stable forms/species inhabit the water bodies of the Siberian Arctic. These are East Siberian (C. lavaretus pidschian n. brachymystax), glacial plain (C. lavaretus pidschian n. glacialis), and Yukagir whitefish (C. lavaretus pidschian n. jucagiricus), as well as their hybrid populations. The glacier-plain whitefish and its derivatives differ from the East Siberian whitefish in plastic features, but they are identical in meristic ones. Molecular genetic studies have shown that in most glacier-plain whitefish form extensive loosely connected networks of haplotypes, which corresponds to the long-term existence of populations in favorable conditions. The East Siberian whitefish haplotypes are closely related to the whitefish haplotypes from the water bodies of Southern Siberia and have a radial structure. Such a structure of median networks indicates a recent decline in the number of East Siberian whitefish followed by expansion, which is directly related to the events of the Quaternary glaciations.

Genetika. 2023;59(11):1235-1252
pages 1235-1252 views

Genetic Assessment of Projected Residual Feed Consumption and Expression of Significant Candidate Genes in Duroc Pigs and Second-Generation Commercial Blends

Belous A.A., Sermyagin A.A., Zinovieva N.A.

Abstract

Residual feed intake (RFI) is one of the basic and complex feed characteristics that is economically important for livestock production. However, the genetic and biological mechanisms governing this trait in pigs are largely unknown. Therefore, the study aimed to identify genome-wide single nucleotide polymorphisms (SNPs), candidate genes involved in RFI regulation, their biological pathways and clustering, using genome-wide association analysis (GWAS). The study was carried out on Duroc pigs (n = 783) and their commercial hybrids of the second generation (n = 250), undergoing test fattening at automatic feed stations for individual accounting. As a result, genes that are significant in terms of the orthology of biological functions and in terms of expression in tissues and organs and are associated with RFI were obtained. These candidate genes include: adhesion receptor G6 (ADGRG6), centromeric protein S (APITD1), carboxypeptidase E (CPE), transmembrane calcium-binding protein (SYTL2), cell adhesion molecule 1 (CADM1), Fli proto-oncogene-1, transcription factor ETS (FLI1), teneurin transmembrane protein 3 (TENM3), prostaglandin E4 (PTGER4), and Potassium voltage-gated channel D subfamily member 2 (KCND2). In addition, the analysis of the obtained data on clustering showed the division into biological, functional and molecular libraries and data published in PubMed. Combining the information obtained, it can be said that the genetic component of the predicted residual feed intake is important, as indicated in previous and current studies. In this connection, there is a need to create molecular diagnostics and develop calculations for genomic assessment, in conjunction with feed conversion, which will improve productivity in pig breeding herds and improve the quality of products.

Genetika. 2023;59(11):1253-1269
pages 1253-1269 views

Study of Genetic Diversity and Population Structure of the Osetin Breed in Comparison with Other Coarse Wool Fat-Tailed Sheep Breeds Based on SNP Genotyping Data

Deniskova T.E., Dotsev A.V., Selionova M.I., Zinovieva N.A.

Abstract

For the first time, an analysis of the genetic diversity of the Osetin sheep breed was performed using genome-wide SNP profiles in a comparison with other Russian coarse wool breeds. We established that the Osetin breed has high genetic and allelic diversity indicators. For the first time, the recent and historical population effective sizes of the Osetin breed were calculated. Close genetic relationships between the Osetin and Karachaev sheep breeds were shown, that is confirmed by the low value of differentiation (Fst = 0.009) and the formation of a joint cluster at the Neighbor Net graph. The similarity of the population structure of the Osetin and Karachaev breeds was revealed as well.

Genetika. 2023;59(11):1270-1281
pages 1270-1281 views

ГЕНЕТИКА ЧЕЛОВЕКА

Assessing the Association of the Degree of DNA Methylation and the Frequency of Chromosomal Aberrations in Human Lymphocytes in a Single Irradiation of Blood in vitro

Tsymbal O.S., Milto I.V., Litviakov N.V., Startseva Z.А., Kalinkin A.I., Sigin V.O., Nikolaeva A.F., Bronikovskaya E.V., Isubakova D.S., Takhauov R.M.

Abstract

The most sensitive biomolecule under radiation exposure is DNA, whose damage manifests itself in the form of chromosomal aberrations (CA). The processes of DNA methylation, which are involved in the regulation of gene expression, replication, DNA repair, etc., are also affected by gamma radiation. The aim of the study was to evaluate the relationship between the degree of DNA methylation and the frequency of CA after acute in vitro irradiation of human blood lymphocytes with gamma radiation. The study involved 10 conditionally healthy workers of the Siberian Chemical Combine, in whose blood lymphocytes the degree of methylation of CpG-dinucleotides (wide-genome bisulfite sequencing, XmaI-Reduced representation bisulfite sequencing – XmaI-RRBS) and the frequency of CA (cytogenetic study) after acute in vitro blood irradiation with doses of 0 and 1.5 Gy were evaluated. After acute exposure to gamma radiation in lymphocytes, the frequency of aberrant cells, dicentric chromosomes, chromatid and chromosomal fragments increased. Correlation analysis of the status of CpG-dinucleotide methylation and the frequency of CA revealed changes in the degree of methylation of 97 genes, which strongly correlated positively (56 genes) or negatively (41 genes) with an increased frequency of CA. A primary genome-wide screening of genes whose methylation is correlates with a high frequency of CA was carried out. Many of the identified genes are promising as potential markers of radiation exposure and to study the mechanisms of formation of radiosensitivity of the body and radioresistance of tumors during radiation therapy.

Genetika. 2023;59(11):1282-1289
pages 1282-1289 views

Molecular Landscape of Oral Cancer in Young Adults

Prostakishina E.A., Dampilova T.D., Kononova L.A., Iamshchikov P.S., Patysheva M.R., Kolegova E.S., Choinzonov E.L., Denisov E.V.

Abstract

Oral cancer (OC) is the most common cancer of the head and neck. Tongue cancer (TC) is the most frequently diagnosed form of OC and is characterized by a high aggressiveness and progression. OC and TC are considered diseases of the elderly, but the incidence among young patients (under 45 years) is increasing every year. The etiological factors and pathogenetic mechanisms of early-onset OC and TC remain unclear. In the present study, based on The Cancer Genome Atlas database, we analyzed the mutational profile, methylome, transcriptome, proteome, and microbiome of OC and TC in young adults (n = 127) compared with older patients. Early-onset OC and TC demonstrated a decrease in the mutation burden, activation of Rap1, PI3K-Akt, MAPK, cGMP-PKG signaling pathways and signaling of Fc-gamma R-mediated phagocytosis, and a specific microbiome profile. In contrast to OC, TC was characterized by activation of such signaling pathways as JAK-STAT, immune response to infectious and parasitic diseases, and PD-L1/PD-1-mediated immunosuppression and inhibition of phagocytosis signaling. The obtained results indicate that early-onset OC demonstrates molecular features different from those in elderly patients, while TC differs from OC in molecular profile and should probably be considered a separate clinical form.

Genetika. 2023;59(11):1290-1302
pages 1290-1302 views

Determination of G/C Polymorphism at chr20:37352001 Position in Human Blood DNA Preparations by GlaI- and Bst2UI-PCR Analyses Methods

Akishev A.G., Netesova N.A., Abdurashitov M.A., Degtyarev S.K.

Abstract

Single nucleotide polymorphism (SNP) is a change of one nucleotide by another. This change often leads to an emergence (or disappearance) of a site recognized by a certain restriction endonuclease. As a result amplification of DNA fragment using primers surrounding SNP point (containing either N1 or N2 nucleotide) followed by hydrolysis of the amplicon with this restriction enzyme will be different for three possible variants in a diploid genome (genotypes N1/N1, N1/N2 and N2/N2). This method of restriction fragments length polymorphism (RFLP) is widely used in the genetic studies. Earlier we have developed GlaI- and FatI-PCR analyses methods which allowed to carry out real-time PCR and showed it applicability for SNP determination. In the current work a new way to determine the single nucleotide polymorphism G/C by the Bst2UI-PCR analysis is proposed. GlaI- and Bst2UI-PCR analyses have been used to determine the frequency of G/C polymorphism variants at the chr20:37352001 position (according to GRCH38.p14 genomic assembly) in the blood DNA samples of 161 donors. The study included: 1) the isolation of leukocyte DNA from blood cells; 2) GlaI- and Bst2UI-PCR analyses of the DNA fragment chr20:37351957-37352083, 3) determination of cytosine and guanine at the chr20:37352001 position in the analyzed DNA preparations, and 4) comparative analysis of the obtained results. It has been shown that 68 donors (42.2%) have a heterozygous set of G/C at the chr20:37352001 position, 89 donors (55.3%) are homozygous by G, and 4 donors (2.5%) are homozygous by C. Thus, taking into account that blood cells have a diploid set of chromosomes, G to C replacement occurs in 76 out of 322 analyzed cases (23.6%). At the same time, from the results obtained it follows that the cytosine residue complementary to G at the chr20:37352001 position exists in methylated form (5-methylcytosine) in most of the DNA molecules, both in homo- and heterozygotes. The proposed method of Bst2UI-PCR analyses extends the possibilites of SNP determination using real-time PCR.

Genetika. 2023;59(11):1303-1312
pages 1303-1312 views

Characterization of the Spectrum of Mitochondrial DNA Nucleotide Substitutions in Human Populations in High Altitude Environments

Malyarchuk B.A.

Abstract

Using phylogenetic analysis of the nucleotide sequences of whole mitochondrial genomes (mtDNA), the spectra of germinal nucleotide substitutions (on the L-chain of mtDNA) were reconstructed in highland populations of the Pamirs and Tibet in comparison with regional indigenous groups of West Asia, Northeast Siberia, and South Siberia. No differences were found in the distribution of nucleotide substitution frequencies in the mtDNA spectra depending on the population distribution by altitude. Pyrimidine transitions dominate in all mtDNA spectra, and T → C substitutions are the most frequent among them. Next in frequency in most regional groups are A → G substitutions, but in the Pamir and northeast Asian groups G → A substitutions are prevalent. Of the transversions in all populations studied C → A replacements were found to be predominant, except for the Tibetan one, where A → C substitutions are more frequent. The lack of differences in the distribution of mtDNA mutations in high-altitude and non-highland populations indicates that the structure of mtDNA spectra in human populations is independent of the oxidative stress intensity in mitochondria.

Genetika. 2023;59(11):1313-1318
pages 1313-1318 views

Distribution Peculiarities of Y-Chromosome Haplogroups in the Population of St. Petersburg in Connection with the Problem of Creation Reference Data Bases

Udina I.G., Gracheva A.S., Borinskaya S.A., Kurbatova O.L.

Abstract

In the sample of male residents of St. Petersburg, Y-chromosome haplogroups were determined by genotyping 18 STR Y-chromosome (DYS389I, DYS389II, DYS390, DYS19, DYS385A, DYS385B, DYS456, DYS437, DYS438, DYS447, DYS448, DYS449, DYS391, DYS392, DYS393, DYS439, DYS635 and DYS576) and data on genetic demography were collected by means of a questionnaire. The distribution of Y-chromosome haplogroups in St. Petersburg residents generally corresponds to the published data on Russian gene pool, with the most frequent haplogroups R1a, R1b, E1b1b1, N, T, I1, I2, J1 and J2, and with the predominance of haplogroup R1a. The presence of “southern by origin” haplogroups (C3, G2a, G2c, J1, J2, L, O2, O3, Q, R2 and T) entering the megalopolis with a flow of migrants, with a total frequency of 16% (in Moscow – 18.1%) was noted. A comparative analysis of the frequency distributions of Y-chromosome haplogroups in residents of St. Petersburg and Moscow revealed statistically significant differences in the frequency of haplogroup E1b1b1, and differences in the ratio of I1 and I2, determined by geographic position. Based on the survey data, a sample of Russian men who had no ancestors of another ethnicity in the male line in the two previous generations was formed. Significant differences in the frequency of “southern-origin” haplogroups were established between the initial sample of residents of St. Petersburg (16%) and the sample of men with Russian ancestors in two previous generations (4.1%). The obtained result confirms the spectrum of haplogroups of “southern origin” as penetrating into the gene pool of the population of a megalopolis with migrant flows and indicates the need for genetic and demographic questionnaires when forming reference databases for a megalopolis, as well as for their timely updating due to changes in the gene pool under the influence of migration.

Genetika. 2023;59(11):1319-1325
pages 1319-1325 views

МАТЕМАТИЧЕСКИЕ МОДЕЛИ И МЕТОДЫ

Description of Divergence of Subpopulations in the Hierarchical System under the Analysis of Isonymy. II. Probabilities of Non-Isonymic Encounters

Passekov V.P.

Abstract

Metapopulations with typical for human populations hierarchical subdivision into parts (subpopulations) are considered, corresponding to classifications based on administrative-territorial division (say, village, village council, district, region, and so on) or on a genealogical approach based on ethnogenesis, as well as on other principles of biological classification. The purpose of this work is to analyze the general properties of the distribution of the surname concentration over subpopulations in their hierarchical structure. Attention is focused on the description of the surname divergence of subpopulations, as an indicator of which the total probability of two person with different surnames encounter is considered, which is understood as the probability of the encounter in a randomly chosen subpopulation, a unit of observation, from metapopulation with a hierarchical structure. Its decomposition by hierarchy levels is obtained, which generalizes the Wahlund effect in population genetics. The total probability of non-isonimic encounters in a hierarchically subdivided metapopulation is less than the probability of random encounters in it by the sum of the average surname concentration intragroup variances corresponding to separate levels. Such properties are purely statistical characteristics of the hierarchical structure, and not a feature of a particular population system, and are not derived from the regularities of one or another model of microevolution. They are computationally formulated in the same way for any hierarchical system, although in the general case they do not coincide quantitatively. The results obtained refer to rural and urban hierarchical metapopulations as separate components of the entire population.

Genetika. 2023;59(11):1326-1340
pages 1326-1340 views

КРАТКИЕ СООБЩЕНИЯ

Search for Candidate Genes for Live Weight in Southern Meat Breed Sheep

Shevtsova V.S., Kulikova A.Y., Getmantseva L.V., Usatov A.V.

Abstract

The paper presents the results of candidate genes search for live weight is southern meat sheep breed. The sample of 48 ewes weighed in the age of 24 months and elder was genotyped on Ovine SNP 50 Genotyping BeadChip array. Using a fixation in dices method (Fst), wedetected 55 polymorphisms associated with live weight. 10 SNP swith the highest Fst value were selected to check the effect on the trait under investigation. All the candidate genes showed the association witht helive weight trait. It’s interesting to not ethatin the NDFIP1 gene there were detected two significant SNPs with a high Fst value.

Genetika. 2023;59(11):1341-1342
pages 1341-1342 views

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