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Том 52, № 2 (2016)

Animal Genetics

Expression of catechol-O-methyltransferase (Comt), mineralocorticoid receptor (Mlr), and epithelial sodium channel (ENaC) genes in kidneys of hypertensive ISIAH rats at rest and during response to stress

Abramova T., Smolenskaya S., Antonov E., Redina O., Markel A.

Аннотация

Emotional stress plays a significant role in the processes of the development of arterial hypertension, especially in the presence of genetic predisposition. The origin and maintenance of hypertensive status during stress development can be activated by the sympathetic nervous system. An increase in sympathetic stimulation can, in turn, result in a change in the functions of kidneys, which provide fluid and electrolyte balance of the organism. A comparative study of the mRNA expression level of catechol-o-methyltransferase (Comt), mineralocorticoid receptor (Mlr), and β-subunit of epithelial sodium channel (β-ENaC) genes was conducted on the kidneys of hypertensive ISIAH rats and normotensive WAG rats at rest and after the effect of emotional stress. The discovered changes in the expression level of the selected genes confirm their involvement in increased sympathetic stimulation of the kidney, along with changes in the function of kidney regulation of fluid and electrolyte balance, which is an important factor of the development of sustained hypertension in the ISIAH rats strain.

Russian Journal of Genetics. 2016;52(2):180-187
pages 180-187 views

Influence of acetylcysteine on cytogenetic effects of etoposide in mouse oocytes

Pligina K., Zhanataev A., Kulakova A., Chaika Z., Durnev A.

Аннотация

The influence of N-acetylcysteine (ACC) on the cytogenetic effects of etoposide in F1 CBA × C57BL/6 mice was studied. Etoposide introduced intraperitoneally in doses of 10, 20, 40, and 60 mg/kg has a dose-dependent clastogenic activity and has an aneugenic effect with the induction of mainly hypohaploid oocytes. ACC significantly decreases the aneugenic and clastogenic activity of etoposide (20 mg/kg) in oocytes of 6-, 9-, and 12-week-old mice during triple introduction at a dose 200 mg/kg per os. The most pronounced anticlastogenic ACC activity (an 80% decrease) was registered in 9-week-old females; a 100% decrease in aneugenesis was detected in 6-week-old female mice.

Russian Journal of Genetics. 2016;52(2):188-193
pages 188-193 views

Genetic diversity of the cytochrome b gene fragment haplotypes in red-backed vole Myodes (Clethrionomys) rutilus Pallas, 1779

Pereverzeva V., Primak A.

Аннотация

For the first time, genetic analysis of the cytochrome b gene fragment haplotypes encoding the identical and the most common cytochrome b polypeptide (F1) in M. rutilus from eastern and Beringian maternal lineages was carried out. The F1 frequencies for the vole populations from Northern Priokhotye and the Kolyma basin were calculated. Considerable polymorphism of the cytochrome b F1 haplotypes within two major phylogroups of red-backed vole was supported by high molecular diversity indices for these clades. The proportion of genetic variation between the maternal lineages of F1 red-backed vole individuals (60.71%) was considerably higher than inter(24.44%) and intrapopulation (14.85%) components. The data obtained make it possible to advance a hypothesis on the convergence of the cytochrome b polypeptide structure upon sequence divergence of the corresponding gene.

Russian Journal of Genetics. 2016;52(2):164-172
pages 164-172 views

Genome-wide analysis of across herd Fst Heterogeneity in holsteinized cattle

Smaragdov M., Saksa E., Kudinov A., Dement’eva N., Mitrofanova O., Plemyashov K.

Аннотация

To form a reference population necessary for genomic selection of dairy cattle, it is important to acquire information on the genetic diversity of the base population. Our report is the first among the studies on breeding of farm animals to implement Wright’s F-statistics for this purpose. Genotyping of animals was performed using BovineSNP50 chip. In total, we genotyped 499 heifers from 13 breeding farms in the Leningrad region. We calculated Weir and Cockerham’s Fst estimate for all pairwise combinations of herds from breeding farms and the values obtained were in the range of 0.016–0.115 with the mean of 0.076 ± 0.002. Theoretical Fst values for the same pairwise combinations of herds were calculated using the ADMIXTURE program. These values were significantly (P < 0.05) higher than Weir and Cockerham’s Fst estimates and fell in the range of 0.063–0.136 with the mean of 0.100 ± 0.001. We discuss the reasons for this discrepancy between the two sets of Fst data. The obtained Fst values were used to identify reliable molecular-genetical differences between the herds. The ADMIXTURE program breaks the pool of 476 heifers into 16 subpopulations, the number of which is close to the number of herds used in the experiment. Results of the comparison between Fst values obtained using SNP markers with published data obtained on microsatellites are in support of the common opinion that microsatellite analysis results in underestimation of Fst values. On the whole, the obtained across-herd Fst values are in the range Fst data reported for cattle breeds. Results of comparison of Fst values with the data on the origin of bulls imported from different countries lead to the conclusion on the expediency of the use of Fst data to assess heterogeneity of the herds. Thus, we have demonstrated that use of Fst data provides the means to assess genetic diversity of cattle herds and is a necessary step in the formation of a reference population for dairy cattle.

Russian Journal of Genetics. 2016;52(2):173-179
pages 173-179 views

Genetic structure of urban population of the common hamster (Cricetus cricetus)

Feoktistova N., Meschersky I., Surov A., Bogomolov P., Tovpinetz N., Poplavskaya N.

Аннотация

Over the past half-century, the common hamster (Cricetus cricetus), along with range-wide decline of natural populations, has actively populated the cities. The study of the genetic structure of urban populations of common hamster may shed light on features of the habitation of this species in urban landscapes. This article is focused on the genetic structure of common hamster populations in Simferopol (Crimea), one of the largest known urban populations of this species. On the basis of the analysis of nucleotide sequences of the cytochrome b gene and mtDNA control region, and the allelic composition of ten microsatellite loci of nDNA, we revealed that, despite the fact that some individuals can move throughout the city at considerable distances, the entire population of the city is represented by separate demes confined to different areas. These demes are characterized by a high degree of the genetic isolation and reduced genetic diversity compared to that found for the city as a whole.

Russian Journal of Genetics. 2016;52(2):194-203
pages 194-203 views

Human Genetics

Polymorphism (353)R>Q of gene of blood clotting factor VII and plasma hemostasis

Bairova T., Gommellya M., Dolgich V., Philippov E., Kolesnikova L.

Аннотация

A comparative estimation was conducted to assess the prevalence of genotypes and alleles of the R>Q(353) polymorphism of the coagulation factor FVII gene between a group of the Russian adolescents with essential arterial hypertension and a group of Russian adolescents without such health problems. The RR genotype was diagnosed in 55 adolescents (75.34%) of the control group and in 99 adolescents (84.61%) of the adolescents suffering from essential arterial hypertension (χ2 = 1.949, p = 0.163). The R allele frequency was, respectively, 85.62 and 91.88% (χ2 = 3.110, p = 0.078). The role of the FVII gene in the determination of the F7 plasma activity was defined in adolescents with essential arterial hypertension and holders of different alleles. Holders of the R allele had significantly higher activity of coagulation factor F7 (97.66 ± 15.48 against 83.37 ± 15.16, p = 0.002), factor F2 (107.45 ± 6.03 against 103.75 ± 6.81, p = 0.023), and antithrombin III (104.47 ± 15.54% against 95.87 ± 11.30%, p = 0.024). than holders of the Q allele. This relationship was not found in adolescents of the control group.

Russian Journal of Genetics. 2016;52(2):214-219
pages 214-219 views

Reliability of the search for 19 common mutations in the CFTR gene in Russian cystic fibrosis patients and the calculated frequency of the disease in Russian Federation

Stepanova A., Krasovsky S., Polyakov A.

Аннотация

A study of Russian cystic fibrosis (CF) patient DNA was conducted to assess the incidence frequency of 19 mutations, namely CFTRdele2,3(21kb), F508del, I507del, 1677delTA, 2143delT, 2184insA, 394delTT, 3821delT, L138ins, 604insA, 3944delGT, G542X, W1282X, N1303K, R334W, and 3849 + 10kbC > T, S1196X, 621 + 1g > t, and E92K of the CFTR gene. We also sought to determine the estimated CF frequency in Russian Federation. In addition, we determined the total information content of the approach for 19 common mutations registration in the CFTR gene, 84.6%, and the allelic frequencies of the examined mutations: three mutations were observed with a frequency exceeding 5% (F508del, 53.98%, E92K, 6.47%, CFTRdele2,3(21kb), 5.35%); other mutations were observed with frequencies ranging from 0.13 to 3.0%. The CF population carrier frequency was 1 in 38 subjects, while the predicted CF frequency was 1 in 5776 newborns.

Russian Journal of Genetics. 2016;52(2):204-213
pages 204-213 views

The T-786C, G894T, and intron 4 VNTR (4a/b) polymorphisms of the endothelial nitric oxide synthase gene in prostate cancer cases

Diler S., Öden A.

Аннотация

In previously conducted some studies it has been revealed that nitric oxide (NO) and nitric oxide synthase (NOS) system play a significant role in carcinogenesis. Nitric oxide (NO) is regulated by endothelial nitric oxide synthase (eNOS) enzyme which is one of the isoenzymes of NO synthase (NOS). In this study we have tried to come to a conclusion about whether eNOS gene T-786C, G894T and intron 4 VNTR (4a/b) polymorphisms might be considered as a risk factor causing prostate cancer (PCa) or not. A total of 200 subjects were included in this research. 84 patients with PCa (mean age 70.0 ± 6.4) and 116 healthy controls (mean age 69.9 ± 7.5) were recruited in this case-control study. Genomic DNA was extracted using the QIAamp DNA Blood Mini Kit (QIAGEN GmbH, Maryland, USA), according to the manufacturer’s guidelines. The T-786C, G894T and intron 4 VNTR (4a/b) polymorphisms were amplified using polymerase chain reation (PCR), detected by restriction fragment length polymorphism (RFLP). For T-786C polymorphism CC genotype [odds ratio (OR): 0.34, 95% confidence interval (CI): 0.15–0.78, P = 0.009)] and allele frequency (OR: 0.631, CI: 0.421–0.946, P = 0.026) is significant for control. In patients with PCa eNOS G894T polymorphism, both GT (OR: 0.069, CI: 0.027–0.174; P = 0.0001) and TT (OR: 0.040, CI: 0.013–0.123; P = 0.0001) genotype distribution, and also T allele frequency (OR: 0.237, CI: 0.155–0.362, P = 0.0001) were considered significant statistically. While genotype distribution for the other polymorphism eNOS, intron 4 VNTR (4a/b), is insignificant statistically, “a” allele frequency was found out to be significant (OR: 2.223, CI: 1.311–3.769, P = 0.003). In this study we indicated that genotype and allele frequencies of eNOS T-786C and G894T polymorphisms are statistically significant in patients with PCa. eNOS T-786C and G894T polymorphisms may be associated with PCa susceptibility in the Turkish population. In contrast, intron 4 VNTR (4a/b) polymorphism may not be related to PCa susceptibility in these patients.

Russian Journal of Genetics. 2016;52(2):220-225
pages 220-225 views

A comparative analysis of methylation status of tumor suppressor genes in paired biopsy and serum samples from cervical cancer patients among north indian population

Jha A., Sharma V., Nikbakht M., Jain V., Sehgal A., Capalash N., Kaur J.

Аннотация

Tumor-specific genetic or epigenetic alterations have been detected in serum DNA in case of various types of cancers. In breast cancer, the detection of tumor suppressor gene hypermethylation has been reported in several body fluids. Promoter hypermethylation of some genes like MYOD1, CALCA, hTERT, etc. has also been detected in serum samples from cervical cancer. The present study is the first report on the comparison of promoter hypermethylation of tumor suppressor genes like p14, p15, p16, p21, p27, p57, p53, p73, RARβ2, FHIT, DAPK, STAT1, and RB1 genes in paired biopsy and serum samples from cervical cancer patients among north Indian population. This is also the first report on the hypermethylation of these genes in serum samples from cervical cancer patients among north Indian population. According to the results of the present study, promoter hypermethylation of these genes can also be detected in serum samples of cervical cancer patients. The sensitivity of detection of promoter hypermethylalion in serum samples of cervical cancer patients as compared to paired biopsy samples was found to be around 83.3%. It was observed that promoter hypermethylation was mainly observed in the serum samples in the higher stages and very rarely in the lower stages. The present study clearly showed that serum of patients with cervical cancer can also be used to study methylated genes as biomarkers.

Russian Journal of Genetics. 2016;52(2):226-230
pages 226-230 views

Reviews and Theoretical Articles

Symbiogenesis as a model for reconstructing the early stages of genome evolution

Provorov N., Tikhonovich I., Vorobyov N.

Аннотация

Symbiogenic evolution, which involves transformations of bacteria into the cellular organelles, is represented as a model for reconstructing the early stages of genome evolution, including the origin of DNA genomes from RNA genomes and the emergence of template processes on the basis of self-replicating molecular complexes in the ancestral metabolic systems. The antiquity of RNA genomes is supported by an increased evolutionary stability of ribosomal protein synthesis (translation) with respect to the DNA-dependent template processes (replication, transcription, recombination, and reparation). This stability is demonstrated by analysis of the deeply reduced genomes of symbiotic bacteria and cellular organelles as well as the “minimal” genomes which are common to phylogenetically diverse organisms. Higher evolutionary conservation of template biosynthetic processes with respect to step processes determining the metabolism and development in cells does not support the hypothesis about emergence of genomes within the ancestral cellular metabolic systems which are thought to be of abiogenic origin, instead suggesting dualistic origin of life on Earth. We suppose that the genome-free organelles of some eukaryotes (mitosomes, many hydrogenosomes, and some plastids) represent the products of reversion of symbiotic bacteria into ancestral forms which implemented their basic cellular functions using the informational macromolecules of exogenic origin. In the framework of this hypothesis the eukaryotic cells functioning based on the massive transfer of gene products (RNAs, proteins) from cytosol to organelles may represent the analogs of ancestral biocenoses that possessed integral hereditary systems (metagenomes).

Russian Journal of Genetics. 2016;52(2):117-124
pages 117-124 views

“Matreshka” genes with alternative reading frames

Sheshukova E., Shindyapina A., Komarova T., Dorokhov Y.

Аннотация

Although a relatively small part of the human genome contains protein encoding genes, the latest data on the discovery of alternative open reading frames (ORFs) in conventional mRNAs has highlighted the expanded coding potential of these genes. Until recently, it was believed that each mRNA transcript encodes a single protein. Recent proteogenomics data indicate the existence of exceptions to this rule, which greatly changes the usual meaning of the term “gene.” The topology of a gene with overlapping ORFs resembles a Russian “matreshka” toy. There are two levels of “matreshka” genetic systems. First, the chromosomal level, when the “nested” gene is located within introns and exons of the main chromosomal gene, both in the sense and antisense orientation relative to the external gene. The second level is a mature mRNA molecule containing overlapping ORFs or an ORF with an alternative start codon. In this review, we will focus on the properties of “matreshka” genes of the second type and methods for their detection and verification. Particular attention is paid to the biological properties of the polypeptides encoded by these genes.

Russian Journal of Genetics. 2016;52(2):125-140
pages 125-140 views

Molecular Genetics

SWI/SNF protein complexes participate in the initiation and elongation stages of Drosophila hsp70 gene transcription

Mazina M., Nikolenko Y., Krasnov A., Vorobyeva N.

Аннотация

The participation of the SWI/SNF chromatin remodeling complex in the stimulation of the RNA polymerase II binding to gene promotors was demonstrated in all model eukaryotic organisms. It was shown eight years ago that the SWI/SNF complex influence on transcription is not limited to its role in initiation but also includes participation in elongation and alternative splicing. In the current work, we describe the subunit composition of the SWI/SNF complexes participating in initiation, preparing for the elongation and elongation of hsp70 gene transcription in Drosophila melanogaster. The data reveal the high mobility of the SWI/SNF complex composition during the hsp70 gene transcription process. We suggest a model describing the process of sequential SWI/SNF complex formation during heat-shock induced transcription of the hsp70 gene.

Russian Journal of Genetics. 2016;52(2):141-145
pages 141-145 views

Plant Genetics

Prevalence of VRN1 locus alleles among spring common wheat cultivars cultivated in Western Siberia

Efremova T., Chumanova E., Trubacheeva N., Arbuzova V., Belan I., Pershina L.

Аннотация

With the use of allele-specific primers developed for the VRN1 loci, the allelic diversity of the VRN-A1, VRN-B1, and VRN-D1 genes was studied in 148 spring common wheat cultivars cultivated under the conditions of western Siberia. It was demonstrated that modern Western Siberian cultivars have the VRN-A1a allele, which is widely distributed in the world (alone or in combination with the VRN-B1a and VRN-B1c alleles). It was established that the main contribution in acceleration of the seedling–heading time is determined by a dominant VRN-A1a allele, while the VRNA1b allele, on the contrary, determines later plant heading. Cultivars that have the VRN-A1b allele in the genotype are found with a frequency of 8%. It was shown that cultivars with different allele combinations of two dominant genes (VRN-A1a + VRN-B1c and VRN-A1a + VRN-B1a) are characterized by earlier heading and maturing.

Russian Journal of Genetics. 2016;52(2):146-153
pages 146-153 views

Genealogical analysis of the use of two wheatgrass (Agropyron) species in common wheat (Triticum aestivum L.) breeding for disease resistance

Martynov S., Dobrotvorskaya T., Krupnov V.

Аннотация

During the last 80 years, in order to increase the genetic variability of wheat, translocations containing nine elongated wheatgrass (Agropyron elongatum) and eight intermediate wheatgrass (Agropyron intermedium) genes, which control resistance to pathogens, were transferred to this crop culture. Genealogical and statistical analysis of 1500 varieties developed using the wheatgrass gave evidence of the continuing increase in the proportion of such varieties in the total number of wheat varieties over the last half-century. Translocations from Ag. elongatum most commonly occur in the pedigrees of the varieties from the United States, less frequently they can be found in Australian and Chinese varieties, and they are extremely rare—in European and African ones. Ag. intermedium most frequently occurs in the pedigrees of the Eastern European varieties, mainly in those from Russia, as well as in the varieties from China. The observed uneven distribution of such varieties may be associated with either the effectiveness of the translocation in the development of resistance to the local populations of pathogens or with the effect of the translocation on the adaptive traits of plants. By computer tracking of pedigrees, we performed an inventory of the translocation donors from Ag. elongatum and Ag. intermedium used in the breeding programs in the United States, Russia, Australia, India, and China. The most widely occurring combinations of the gene complex Lr24/Sr24 of Ag. elongatum with other resistance genes were revealed. In Russia, there were developed varieties in which the 6D chromosome was substituted by the 6Ai chromosome of Ag. intermedium, which controls disease resistance and the adaptivity of plants. The identification and introgression of new translocations indicates that the possibilities of using wheatgrass species for broadening of genetic variability of wheat are far from being exhausted.

Russian Journal of Genetics. 2016;52(2):154-163
pages 154-163 views

Short Communications

Genetic differentiation among natural populations of the lizard complex Darevskia raddei as inferred from genome microsatellite marking

Omelchenko A., Girnyk A., Osipov F., Vergun A., Petrosyan V., Danielyan F., Arakelyan M., Ryskov A.

Аннотация

The article presents the genetic parameters of the populations of lizards of the Darevskia raddei complex (D. raddei nairensis and D. raddei raddei) and the populations of D. valentini calculated on the basis of the analysis of variability of 50 allelic variants of the three nuclear genome microsatellite-containing loci of 83 individuals. It was demonstrated that the Fst genetic distances between the populations of D. raddei nairensis and D. raddei raddei were not statistically significantly different from the Fst genetic distances between the populations of different species, D. raddei and D. valentini. At the same time, these distances were statistically significantly higher than the Fst distances between the populations belonging to one species within the genus Darevskia. These data suggest deep divergence between the populations of D. raddei raddei and D. raddei nairensis of the D. raddei complex and there arises the question on considering them as separate species.

Russian Journal of Genetics. 2016;52(2):231-235
pages 231-235 views

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