In polymorphism rs1815739, a C → T transition converts arginine to a premature stop-codon at residue 577 of the α-actinin-3 (ACTN3) protein (R577X polymorphism). This polymorphism may affect muscle performance, and the derived 577X allele is found to be underrepresented in sprinters/power athletes. In addition, loss of α-actinin-3 was reported to result in a shift in the metabolism of muscles toward a more efficient aerobic pathway. This suggests that this polymorphism may have been involved in enhancing the capability for hunting and adapting to cold during the evolution of humans. In this study, we investigated the rs1815739 polymorphism in several native populations (Chukchi, Koryaks, and Evens) and later settlers (Russians) in Northeast Asia. The genomic DNA was isolated from the peripheral blood. ACTN3 genotypes for the rs1815739 locus were established by the enzymatic digestion of amplicons with DdeI. Homozygotes TT were confirmed by DNA sequencing. We found lowered frequencies (less than 40%) of the mutant rs1815739-T allele in the studied populations of Northeastern Asia. Analysis of the exome data has shown that haplotypes comprising the rs1815739-T allele reach the highest frequencies in the populations of Southern and Central Siberia. In contrast, this haplotype is rather rare in Northeast Siberia. The obtained results contradict the hypothesis that the rs1815739 polymorphism may have been involved in the adaptation of Northeast Siberians to cold.
The purpose of this work is to study the interaction of morphologically similar forms of pidschianlike whitefishes of the Coregonus lavaretus complex inhabiting a limited area in the riverine-lacustrine system of the Bolshoy Abakan River basin. Sequences of the 16S-ND1 fragment of the mitochondrial DNA and the first intermediate transcribed spacer ITS1 of the nuclear DNA are determined. It is shown that whitefish populations differ based on the gill raker numbers and the complex of plastic traits. Analysis of the 16S-ND1 fragment of the mtDNA revealed several divergent lineages, which is confirmed by the study of the ITS1 of the nDNA. As a result, it is shown that the riverine-lacustrine system is inhabited by two genetically divergent whitefish populations. The results of the study support the hypothesis of multiple hybridization between slightly differentiated forms/populations of whitefishes during the postglacial period. As a result of the studies carried out, the hypothesis about the origin and possible ways of migration of some phylogenetic lineages of whitefishes in the water bodies of the Yenisei River basin is proposed.
The ability of metal salts and pharmacological agents to induce oxidative stress and the SOS response in bacteria is tested with a set of lux biosensors. The sensors are based on three E. coli strains carrying recombinant plasmids with the lux operon fused to the promoters of the SoxS (superoxide dismutase), KatG (catalase–peroxidase), and ColD (colicin D) genes. A total of 47 substances are tested. Of them, 16 induce the SOS response; and 6, oxidative stress. The results observed are compared with the previously published data on the mutagenic activity of the same 47 substances evaluated in the Ames test. The comparison shows full coincidence for 42 of the 47 substances analyzed. The potential of lux-based biosensors for screening chemicals for genetic activity is discussed.
The effect of urine chemosignals of domestic male cats (Felis catus L.) on the stability of the bone marrow cell genome and corticosterone level in blood plasma of recipient mice (Mus musculus L.) is studied. It is demonstrated that a two-hour sniffing of volatile chemosignals leads to an increase in the frequency of bone marrow cells with damaged DNA, while 24 h exposure to chemosignals leads to an increase of chromosomal aberrations frequency in these cells. Thus, the effect of genomic instability induction in bone marrow cells of house mice by predator’s chemosignals is for the first time demonstrated in the work. At the same time, no increase in the corticosterone level is detected in the blood plasma either 30 or 60 min after the beginning of the exposure to the chemosignals of cat urine (CU). The physiological factors contributing to DNA damages accumulation in bone marrow cells, as well as the long-term consequences of the effect of these chemosignals on the genome stability, are discussed.
Summary: Background. The vast forest areas were affected by radioactive fallout of the Chernobyl accident. Data about the long-term effects of chronic radiation exposure are insufficient, as well as knowledge about its influence on the genetic structure of populations. Study of isozyme polymorphism allows us to identify how chronic low-dose radiation exposure affects the genetic structure of plant populations and to develop new methods for assessing the biological effects of anthropogenic impact on terrestrial ecosystems. Materials and methods. The study was conducted in six sites in the Bryansk region (4 radioactively contaminated and 2 reference ones). The method of vertical electrophoresis in PAAG was used for estimation of polymorphism of three enzymes involved in metabolic pathways. Activity of enzymes in seeds of Scots pine was assessed by spectrophotometry. Results. The frequency of mutations in isozymes loci increased along the level of radiation exposure (7-130 mGy/year), as well as some characteristics of the genetic structure of populations. Biochemical activity of studied enzymes does not depend on the level of dose absorbed in the generative organs of pine. Conclusions. It was found that the frequency of mutational events in loci of catabolic/anabolic enzymes and in the loci of previously studied antioxidant enzymes increases along the level of radiation exposure. The degree of the biological effect of chronic exposure was different in groups of catabolic/anabolic enzymes and antioxidant enzymes. Radiation exposure contributes to changes in the genetic structure of Scots pine populations.
The transcription activity of genes involved in diapause regulation in Colorado potato beetle adults in diapause preparation and in the middle of winter is studied under laboratory conditions. The gonads of beetles remaining active, unlike those of the dormant ones, contain mRNA for the Rdl subunit of the gamma aminobutyric acid (GABA)A receptor. In the middle of winter diapause, the muscle and gonad tissues of beetles exposed to fipronil, a noncompetitive inhibitor of the GABAA-gated ionotropic channels, contain elevated amounts of mRNAs of the DP1, fer, DAT1, DAT2, EcR, and Ldace-1 genes. It is presumed that fipronil considerably influences the regulatory processes occurring in diapause development by blocking the GABA–GABA-receptor binding.
The liver enzyme paraoxonase 1 (PON1) plays an important role in protecting the body from the toxic effects of organophosphorus compounds (OPs) through their hydrolysis. PON1 activity is determined by the polymorphic loci of the PON1 gene. In this work, the polymerase chain reaction followed by restriction analysis was used to type the polymorphic loci Q191R, L54M, and C(–108)T of the PON1 gene, and PON1 activity was measured in 68 male factory workers having long-term contact with OPs and in the control group (N = 37). PON1 activity among factory workers relative to the substrate of paraoxone was increased in comparison with the control group (p < 0.05). It is shown that the increase in PON1 activity in factory workers having long-term contact with OPs is modulated by genotypes of the PON1 gene.
The Pichia pastoris yeast is used for recombinant secretory proteins production. The overexpression of assistant genes, the coding proteins involved in secretion, is one of the approaches used to improve the production of target proteins. PpPDI gene encodes P. pastoris yeast protein disulfide isomerase (Pdi). The aim of our study is to evaluate the effect of Pdi overproduction on the production of recombinant interferons. We obtain the yeast Pichia pastoris strains expressing PpPDI gene under the control of alcohol oxidase-1 (AOX1) promoter. The effect of the overexpression of the PpPDI gene on the production of heterogious proteins—interferon-alfa16 and chicken interferon-gamma—and on the cell growth rate is shown.
The Inter Simple Sequence Repeats (ISSR) analysis of 93 samples of a rare endemic species Allium regelianum, growing in Volgograd oblast is conducted for the first time. Using the six primers, 109 fragments are obtained, of which 87 (79.8%) are polymorphic. The intra- and interpopulation diversity of A. regelianum is estimated. The highest rates of intrapopulation diversity are noted for populations from Krasnoyarskii khutor, Serafimovichskii administrative region, and Khrenovatyi liman, Nikolaevskii administrative region. Analysis of the interpopulation differences revealed a relatively high level of similarity between populations and a low level of subdivision.
Failure to understand the role of biological and social factors in the formation of some socially important traits in humans could result in unjustified tension in interpersonal relationships. It is caused by a distorted perception of frequently unreliable information, its ambiguity due to the uncertainty of the terminology used and, as a consequence, the impossibility of its correct analysis. Using the term sexual orientation demonstrated the way how genetic understanding of the trait’s formation and data on the control mechanisms of sex formation may clarify and complement our knowledge on the subject. The hypothesis of the chemocommunicative model in the formation of sexual orientation in humans is discussed.
The allele pool and the genetic structure of the Bison bonasus population of the Lowland-Caucasian line, which is the breed nucleus of the Russian gene pool of European bison (n = 26) is studied. Eight of the ten microsatellite loci of Bos taurus were polymorphic. Alleles specific for the Lowland-Caucasian line are identified. A relatively high inbreeding level (FIS = 0.091) and an extremely low effective population size (Ne = 1.8, 95% CIs, Parametric 1.1–2.9) are observed. We show that two genetically distinct groups have taken part in the formation of the allele pool of the studied wisent population. Our data indicate that the development of a breeding program to decrease the degree of inbreeding and to increase the level of genetic diversity is required.
Analysis of the prevalence rates of the endosymbiotic bacterium of the Wolbachia genus in the populations of corn borers of the Ostrinia genus was carried out. Samples of genomic DNA were extracted from field-collected larvae. The PCR analysis for the presence of Wolbachia infection was performed independently using three diagnostic loci: 16SrRNA, gatB, and fbpA. A positive signal for Wolbachia was obtained for 13.5% of the Ostrinia nubilalis larvae (N = 141) and 31.9% of the Ostrinia scapulalis larvae (N = 138). The infection rate ranged from 2.9% (N = 34) to 65.8% (N = 38) in different geographical populations. At the same time, a significantly higher infection rate of O. scapulalis than O. nubilalis was observed in three out of four habitats. It was also found that the Wolbachia infection was more common for O. scapulalis individuals feeding on hemp than for those collected from mugwort.
The features of the asymmetry of the shape of laminas of English oak (Quercus robur) are studied. In six randomly selected populations, a Generalized Procrustes analysis showed the mixture of fluctuating asymmetry (FA) and directional asymmetry (DA). One population showed pure FA. Covariance symmetric matrix revealed more variance of the landmarks along the symmetry axis in comparison to the asymmetric matrix explaining the variation of bilaterally symmetrical landmarks. A weak correlation association between the Procrustean coordinate values of the covariance symmetric matrices and asymmetric matrixes is obtained (r = 0.25, p < 0.01). The variation coefficients of the factor “side” and “side x population” among the studied six populations were 48.24 and 44.93%, respectively. The study demonstrates that the cluster analysis of the principal components matrix of asymmetry could be used for the analysis of genotypic variability.
Microspatial differentiation of the population gene pools of the terrestrial mollusk Helicopsis striata (Müller, 1774) is revealed for various conditions of the Southern Mid-Russian Upland, which is caused by the fragmentation of habitats and differences in the intensity of the gene flow between demes. The spatial differentiation of H. striata, due to the special features of its biology, is the highest among other terrestrial mollusks of the studied region. Populations with a low variability and weak gene pool differentiation are demonstrated to be the most vulnerable. The methodological importance of the intrapopulation structure of the species is specifically noted for the works on estimating the state of the population’s gene pools, since the single datasets of individual demes cannot demonstrate the true nature of the genetic structure of the populations.
A research study on the population structure of relict and specially protected species Cepaea vindobonensis Fer. (Mollusca, Gastropoda, Pulmonata) in the conditions of the northeastern part of the modern- day distribution range is conducted with the use of allozymes and DNA markers. Groups with both high and low levels of genetic diversity are revealed. A high degree of differentiation in the studied populations (Fst = 0.231, Gst = 0.265, Φst = 0.261–0.263, Nm = 0.630–0.832) is noted, which indicates a disruption of migratory channels and prolonged isolation from each other. Calculation of the effective population size and its comparison to analogous indices for background and vulnerable species of terrestrial mollusks demonstrate a high level of viability of the C. vindobonensis population within the studied area.
The analysis of the features of the morphology and polymorphism of mitochondrial DNA (mtDNA) of cisco (Coregonus sp.) from Lake Sobachye (Putorana Plateau) demonstrates a significant relation of this population to the vendace Coregonus albula (Linnaeus). The obtained data allows us to discuss a number of hypotheses on the origin of cisco from Lake Sobachye and its phylogenetic relationship with the vendace and least cisco.
For the determination of the impact of environmental factors on the differentiation of Picea abies populations, 20 cenopopulations from four geographical points are investigated. The study shows that environmental conditions affect the genotypic composition of populations more than geographical distance. The structure of the intrapopulational genetic variability of Picea abies is determined to a higher extent by the effect of ecological isolation than by the effect of isolation-by-distance (IBD).
The change in the spectrum of chromosomal abnormalities in the apical root meristem of Elodea canadensis Michx. (elodea) growing in areas with different types of anthropogenic (radioactive and chemical) pollution of the bottom sediments of the Yenisei River is shown. In the samples of elodea collected in the zone of radioactive contamination of the river by discharges of the Rosatom Mining and Chemical Combine (MCC, Zheleznogorsk), the predominant type of abnormalities consist of chromosomal aberrations (bridges, stickiness, chromosomal fragmentation), as well as multiple abnormalities in one cell. The elodea samples from the areas of the Yenisei River with nonradioactive (chemical) contamination of bottom sediments by the enterprises of the city of Krasnoyarsk are predominantly characterized by abnormalities associated with the disturbance of the mitotic spindle of cell division.
Maize is the only major cereal crop that can naturally accumulate appreciable levels of carotenoids which are the source of provitamin A. The association of the total carotenoid content in maize kernels with allelic variation PSY1 InDel1 was estimated. We used a collection of 54 maize genotypes of different ecogeographical origins, methods of PCR analysis, spectrophotometry, and statistical analysis in this study. The total carotenoid content of genotypes with a favorable allele of InDel1 is 0.60 mg/100 g, which is significantly higher than that of the samples with an unfavorable allele (0.43 mg/100 g). Thus, the use of PCR-based markers for PSY1 InDell polymorphism is a reliable method for identifying genotypes with high carotenoid accumulation in maize kernels.
A comparison of the small subunit rRNA gene sequences of the microsporidian isolates from corn borers of the Ostrinia genus from Russia and Belarus indicates that they belong to the Nosema pyrausta species. In order to analyze genetic polymorphism, the nucleotide sequences of the molecular clones of the rRNA intergenic spacer (IGS) of the N. pyrausta isolates from Ostrinia nubilalis and Ostrinia scapulalis (Krasnodar territory), as well as from O. nubilalis (Gomel region, Belarus), are determined. Based on the information obtained and available in Genbank, a high level of divergence of the IGS locus between the isolates of different species and populations of microsporidia, as well as between the molecular clones within individual isolates of parasites, is shown.
