Genetika (Genetika )


Russian version of Russian Journal of Genetics (1022-7954).

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Publications in this journal

  • Genetika 04/2014; 46(1):209-218.
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    ABSTRACT: The effect of the ubiquitous downregulation of insulin receptor (InR) gene expression on the metabolism of juvenile hormone (JH) and dopamine (DA) in young females of D. melanogaster under normal conditions and heat stress is studied. The activity ofJH degradation and alkaline phosphatase (ALP, an enzyme regulating DA synthesis) were used as indicators of JH and DA levels, respectively. We demonstrated that, under normal conditions, the ubiquitous inhibition of the InR gene expression in D. melanogaster females induced an increase in the JH degradation and ALP activity. As we have already shown, this is indicative of the decrease in the concentration of the above hormones. It was also found that the total inactivation of InR does not affect the initiation ofJ H and DA metabolic system response to heat stress; however, it does affect its intensity. Thus, the involvement of the insulin signaling pathway in the regulation of the JH and DA metabolism in Drosophila females was demonstrated in vivo under normal and stress conditions.
    Genetika 07/2013; 49(7):891-5.
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    ABSTRACT: Cyclin-dependent kinases (CDKs) are a family of enzymes essential for the progression of the cells through the cell cycle in eukaryotes. Moreover, genetic stability-maintaining processes, such as checkpoint control and DNA repair, require the phosphorylation of a wide variety of target substrates by CDK. In budding yeast Saccharomyces cerevisiae, the key role in the cell cycle progression is played by CDK1/CDC28 kinase. This enzyme is the most thoroughly investigated. In this review the involvement of CDC28 kinase in regulation of the cell cycle is discussed in the light of newly obtained data.
    Genetika 07/2013; 49(7):797-813.
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    ABSTRACT: An analysis of mtDNA polymorphism in eight populations of aboriginal residents (N = 519) of the Far East has been performed. The majority of haplogroups revealed in the examined groups were of East Eurasian origin. Haplogroup D was revealed in seven populations and its frequency varied from 2.8% in Koryaks to 28.3 and 28.9% in Nanaians and Evenks, respectively. Chukchi and Koryak populations, which belong to the same language family, exhibited haplogroup G, which has the same motive and indicates the genetic kinship of both populations. The presence of East Eurasian haplogroups A and D with a strong predominance of haplogroup A in Chukchi indicates the closer relationship of this population both with Asian and Canadian Eskimos and northern Atapasks on the other side of Bering Strait. The high level of genetic variability was revealed in populations belonging to the Tungus-Manjur group. The high frequency of east Eurasian haplogroups in Nanaians could result from close historical associations with Siberian Evenks.
    Genetika 07/2013; 49(7):862-76.
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    ABSTRACT: Processed copies of genes generally evolve in neutral mode as pseudogenes, however, some of them might be important sources of new functional genes. The psiPGK1 pseudogene has been discovered in Schrenck salamander (Salamandrella schrenckii, Amphibia, Caudata, Hynobiidae) via polymerase chain reaction used to amplify the phosphoglycerate kinase 1 gene (PGK1). This pseudogene is an intronless copy of PGK1 gene absent of exon 6. Analysis of psiPGK1 pseudogene polymorphism has demonstrated that it lacks mutations, which results in shifts in the stop codons and reading frames, as well as that the interspecies variation of this pseudogene was inconsistent with the neutral model of evolution. In addition, the pattern of phylogeographic differentiation of the psiPGK1 variants mainly coincides with that observed in mitochondrial DNA. These observations allow it to be suggested that the psiPGK1 pseudogene is a new functional gene in the Schrenck salamander.
    Genetika 07/2013; 49(7):830-7.
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    ABSTRACT: Nucleotide sequences of the self-splicing group-II intron of rps16 have first been determined in nine species of the Solanum genus. It was found that the observed variations in the intron length (855-864 bp) was associated with indels of 1 to 9 b. Altogether, five indels and 50 nucleotide substitutions were detected, which were used to identify six Solanum haplotypes. Although the intron sequence was in general fairly well conserved, the distribution of the described mutations among its structural elements corresponding to six preRNA domains was qualitatively and quantitatively nonuniform. The highest polymorphism levels were observed in domains I, II, and IV. The sequence of domain V was absolutely invariable, which is in agreement with its functional significance.
    Genetika 07/2013; 49(7):824-9.
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    ABSTRACT: Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 (MFN2) gene and represents one of the most common axonal forms of HMSN. We determined the spectrum and frequency of MFN2 gene mutations in patients from the Bashkortostan Republic (BR). Four different mutations were revealed in 5 out of 170 unrelated patients, i.e., c.2113G>A (p.Val705Ile) (1.2% among all types of H MSN in the total sample of patients and 2% among patients of Tatar ethnicity). This mutation was described previously; c.775C>T (p.Arg259Cys) (0.6%, in the total sample of patients and 2% among the patients of Tatar ethnicity); c.776G>A (p.Arg259His) (0.6% in the total sample of patients and 1.5% among the patients of Russians ethnicity); and c.2171T>C (p.Leu724Pro) (1.2% in the total sample of patients and 7.4% among the patients of Bashkirs ethnicity). These are new mutations that were not observed among healthy family members and in control samples of healthy subjects. Five identified nucleotide substitutions represent single nucleotide polymorphisms of the gene, including c.892G>A (p.Gly298Arg), c.957C>T (Gly319Gly), and c1039-222t>c, which were described previously, while c.175+28c>t and c.2204+15t>c represent new nucleotide substitutions in the intron regions of the gene.
    Genetika 07/2013; 49(7):884-90.
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    ABSTRACT: Data that support the evidence of mutagens known to cause epigenetic abnormalities that could potentially result in genomic instability and the development of cancer rather than to modifications in the human genome at the gene and chromosomal levels only. The level of global methylation in human lymphocytes in vitro caused by exposure to two mutagens with different mechanisms of action, i.e., dioxidine and methyl methanesulphonate (MMS), was demonstrated in the present study. Global methylation was assessed by methyl-sensitive comet assay. An increase in the level of global methylation to 45.64% was revealed during culturing with dioxidine in a concentration of 0.01 mg/mL (p < 0.001), while the addition of dioxidine in a concentration of 0.1 mg/mL resulted in a decreased level of methylation up to 42.31% (p < 0.001). The addition of M MS in concentrations of 0.0025 and 0.01 mg/mL resulted in minor but significant modifications (p < 0.05) of the global methylation level ranged within natural variations in global methylation. Accordingly, the addition ofdioxidine in the concentration of 0.1 mg/mL might cause genomic instability and might be considered a potential carcinogen.
    Genetika 07/2013; 49(7):877-83.
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    ABSTRACT: The association of SNP2-1 with egg quality traits in domestic chickens was analyzed. SNP2-1 alleles were significantly associated with the thickness of eggshells in chickens of the UK-72 line. The substitution of the SNP2-1 allele Tfor the C allele had an effect of 35 +/- 15 microm, which corresponds to one standard deviation. For this trait, the effect of the Tallele was dominant. SNP2-1 was also associated with other traits, including shell weight, egg-laying capacity in 60-week-old chickens (line UK-72), and egg weight in 60-week-old chickens (line cross CD). Thus, the QTL marked with SNP2-1 has a pleiotropic effect that depends on the chicken strain. Candidate genes located on chromosome 4 in close vicinity of SNP2-1 are discussed.
    Genetika 07/2013; 49(7):856-61.
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    ABSTRACT: In the present study, we constructed a Pichia pastoris mutant strain PS111 that lacks one member of the yapsin family through disruption of the YPS1 gene coding for aspartic protease yapsin 1. Under normal growth conditions, the PS111 mutant strain did not show detectable growth defects. Unlike the S. cerevisiaeyps1 mutant, the P. pastoris PS111 strain showed no sensitivity when grown in the presence of CaCl2, elevated temperature (37 degrees C), under acid (pH 4.9) and alkaline (pH 8.3) conditions. Unlike the S. cerevisiae, the P. pastoris yps1 mutant showed decreased growth phenotype induced by cell wall-perturbing reagent sodium dodecyl sulfate (SDS) only when the concentration of SDS was increased by ten times. The use of the yps1 disruptant to produce human interferon alpha 16 (hINF-alpha 16) prevents proteolysis, which occurs in the wild-type strain. It was found that the degradation of recombinant protein Alburon composed of human serum albumin (HSA) and hINF-alpha 16 was slightly decreased in the strain lacking yapsin 1.
    Genetika 06/2013; 49(6):696-702.
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    ABSTRACT: Sequences of the two large introns (C and D) from two paralogous growth hormone genes, GH1 and GH2, were compared in eight charr species of the Salvelinus genus (Osteichthes, Salmonidae). It was demonstrated that the rates of intron divergence in these two genes were remarkably different. Introns in the GH1 gene appeared to be more conservative, while the rate of intron variations was considerably higher in the GH2 gene. These data suggest that noncoding regions of nuclear genes are shaped by selective pressure. The lower congruence of phylogenetic scheme constructed based on an analysis of the GH1 introns compared to that based on the GH2 data, as well as with the traditional views on the evolution of charr species, also favors the supposition on contrasted patterns of selective pressure in noncoding intronic sequences.
    Genetika 06/2013; 49(6):743-50.
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    ABSTRACT: The importance of YWHAE gene polymorphisms (rs1532976, rs3752826, and rs9393) in the development of suicidal behavior has been studied in ethnic groups of Russians and Tatars from the Republic of Bashkortostan. It was revealed that the carriers of the YWHAE*C allele of rs3752826 polymorphism of the YWHAE gene have increased the risk of suicidal behavior (OR = 1.91), regardless of their ethnicity. In addition, the YWHAE*T allele of rs9393 polymorphism (OR = 2.21), YWHAE*T/*T genotype (OR = 2.73), and YWHAE*T allele (OR = 1.52) of the rs1532976 polymorphism, as well as the YWHAE*A*T haplotype of rs1532976 and rs9393 polymorphisms (OR = 1.54) represent genetic markers of the risk of suicidal behavior in the sample of subjects of Russian ethnicity.
    Genetika 06/2013; 49(6):767-72.

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