


Vol 53, No 9 (2017)
- Year: 2017
- Articles: 14
- URL: https://journal-vniispk.ru/1022-7954/issue/view/11806
Reviews and Theoretical Articles
Molecular and genetic regulation of apomixis
Abstract
Apomixis is defined as the asexual plant reproduction through seeds that results in the production of genetically uniform progeny. In fact, apomixis could be considered as a natural way of cloning. Currently there are more than 400 plant species known to use apomixis as a strategy for their propagation. The primary fundamental aspects of apomixis are the bypassing of meiosis and parthenogenetic development of the embryo without fertilization Apomixis attracts special attention because of its potential value for agriculture, as it could be harnessed for plant breeding programs enabling the permanent fixation of heterosis in crop plants. A better understanding of the molecular and genetic regulation of apomixis is important for developmental and evolutionary perspectives but also for implementation of engineering of apomixis traits into agricultural crop plants. Despite apomixis is considered as one of the key technologies for the improving agriculture, it is currently not fully known how the genetic and molecular regulation of this important trait occurs. In this review, an up to date information on the biology of apomixis and the known genes and genetic loci associated with regulation of different components of apomixis is provided.



Animal cloning applications and issues
Abstract
Significant progress in the field of biotechnology has allowed for the use of cloning in animals which is being used: to improve genetic makeup, to rescue endangered species, in tissue engineering and to increase farm animal population. Unfortunately, cloning has been met with failure due to a variety of reasons namely early and late abortions, compromised immune systems, circulatory and respiratory problems and a high rate of fetal death. The reasons of these problems are unknown, but may research groups are attempting to understand the underlying molecular and cellular mechanisms involved in cloning efficiency. Atypical epigenetic re-programming appears to be the primary cause of ineffective cloning. Understanding molecular mechanisms involving key regulatory proteins is pivotal in the success of animal cloning. This review shows the current paradigm involving animal cloning efficiency, and also further elucidates applications to improve animal cloning efficiency.



General Genetics
Soluble epoxide hydrolase (sEH) as a potential target for arterial hypertension therapy
Abstract
Using ISIAH rat strain, an animal model for stress-sensitive form of arterial hypertension, a comparison of the brain stem, hypothalamus, adrenal gland, and kidney transcriptomes for identification of the key genes involved in the development of the stress-sensitive form of arterial hypertension was conducted. Our studies revealed Ephx2 gene encoding soluble epoxide hydrolase (sEH), whose transcription level was significantly higher in all the examined organs. On the basis of other studies and our previous investigations, we concluded the necessity of further studies of Ephx2 gene and an encoded sEH protein as a potential target for pharmacological treatment of stress-sensitive arterial hypertension.



Prevalent function of genome loci associated with development of multiple sclerosis as revealed by GWAS and eQTL analysis
Abstract
We studied genome distribution of single-nucleotide polymorphisms (SNP) associated with development of multiple sclerosis and identified genome segments enriched in such polymorphisms. Some SNPs observed in identified segments are also local or distal eQTLs (expression quantitative trait loci) for a number of genes expressed in the blood or the nervous system. We analyzed lists of genes expression of which depends on these eQTLs, separately for the blood and the nervous system, and identified GO functions overrepresented in such gene lists. An antigen processing and presentation via MHC class II appeared to be the main gene functions either in the blood or in the nervous system. We identified a set of SNPs genetically linked with at least three SNPs associated with multiple sclerosis in GWAS, which includes eQTLs for all overrepresented functions. These SNPs and genes are located in a rather short locus on chromosome 14 presumably containing IGHG genes. SNPs from this genome segment affect expression of the HLA-DOB, HLA-DQA1, HLA-DQA2, and HLA-DQB1 genes both in the blood and in the nervous system. The results we obtained made it possible to suggest the mechanisms of multiple sclerosis development.



Molecular Genetics
Mapping of the gypsy retrotransposon sequence is responsible for the EAST-dependent repression in the yellow gene model system of Drosophila melanogaster
Abstract
The EAST protein is a component of nuclear matrix. In the interphase cells, EAST is localized in the extrachromosomal nuclear domain. Increased EAST concentration leads to a change in spatial chromatin structure. However, previously, it was not known whether this protein played any role in the regulation of transcription. This study examines the mechanism of the EAST protein effect on the yellow gene transcription. It was demonstrated that the EAST-dependent repression observed in a model system of the yellow gene could occur not only in the presence of the Su(Hw) insulator sequence but also in the presence of the long terminal repeat sequence of the gypsy retrotransposon. In the LTR, a 92-bp sequence involved in the mechanism of EAST-dependent repression was detected. These results suggest that the found DNA motif is the place of the assembly of a protein complex, which functionally interacts with the EAST protein. This complex either independently suppresses the yellow gene expression in bristles or moves the transgene in the nuclear region with a high concentration of transcription repression factors.



Genetics of Microorganisms
Genetic differentiation of Puccinia triticina Erikss. in Russia
Abstract
A collection of Puccinia triticina isolates was characterized for polymorphism of microsatellite loci and estimated for their differentiation by geographic origin. The collection included 20 isolates from the Ural region, 31 from West Siberia, 53 from Central Europe, 32 from the Northwest region, 32 from the Volga region, and 40 from the North Caucasus (24 from Dagestan and 16 from Krasnodar and Stavropol). The studied isolates were represented by 65 virulence phenotypes. In the polymorphism analysis of 18 microsatellite loci, 69 genotypes were determined. The index values of genetic distances (Fst, Rst, KBc) between populations for microsatellite loci indicated differentiation of P. triticina isolates according to geographical origin, and they were clustered into three groups: (1) Asian, (2) European, and (3) North Caucasian. The North Caucasian isolates from Krasnodar and Stavropol regions were closer in similarity to European isolates than the Dagestan ones. Current analysis confirmed the assumption made earlier on the basis of the virulence analysis about the existence of several geographic fungi populations in Russia.



The intrinsic antibiotic resistance to β-lactams, macrolides, and fluoroquinolones of mycobacteria is mediated by the whiB7 and tap genes
Abstract
The M. tuberculosis resistome includes a number of genes involved in intrinsic drug resistance. One of the major members of this system is the whiB7 gene encoding a transcription factor, which regulates expression of a number of genes—its regulon. In this study, we analyze the impact on intrinsic drug resistance levels of the whiB7 and tap genes and their prevalent mutants. The mutations found within whiB7 and tap genes in the genomes of strains belonging to Beijing and EAI-Manila lineages allowed us to investigate the new role of these genes in the intrinsic drug resistance of mycobacteria to β-lactams, fluoroquinolones, and macrolides and to assume their significance in the development of M. tuberculosis genotypes. Here we also established that the mutation in the tap gene–insC581, previously described, as a marker of the Beijing lineage, cannot be the marker due to its absence in a number of Beijing strains.



Animal Genetics
Microsatellite variability in chum salmon of Primorye
Abstract
In this study, 12 samples of chum salmon from the southern and central parts of Primorye were studied with ten microsatellite loci. All studied localities of chum salmon of Primorye formed three main genetically different groups: (1) the Narva–Barabashevka–Ryazanovka cluster of southern Primorye, (2) Kievka River, and (3) Avvakumovka River. The revealed genetic heterogeneity of chum salmon showed clear population structure in accordance with the geographical location of the samples. The study suggests that, for the purposes of artificial reproduction of chum salmon, it is desirable to perform egg planting with regard to the described population structure of chum salmon of Primorye.



Distribution of heterochromatin markers in lampbrush chromosomes in birds
Abstract
Changes in functional gene activity not affecting primary DNA structure can be inherited by a cell and in total represent epigenetic mechanisms of the genome expression regulation. Epigenetic genome modifications include DNA methylation, histone modifications, and binding of the proteins and noncoding RNA. The distribution of heterochromatin markers (such as methylated cytosine, HP1 heterochromatin protein, and modifications of H3, H4, and H2A histones) was analyzed by example of lampbrush chromosomes typical for growing bird oocytes. On the lampbrush chromosomes of domesticated chicken (Gallus gallus domesticus), Japanese quail (Coturnix japonica), and chaffinch (Fringilla coelebs), methylated cytosine was mainly detected in chromomeres, as well as in unextended regions of lateral loop axes. The largest accumulation of methylated cytosine was demonstrated by chromosome W and dense chromomeres of macro- and microchromosomes. The HP1β protein distribution in the lampbrush chromosomes corresponded in general to the distribution of methylated cytosine. Chromomeres of chromosome W as well as centromeric and terminal chromomeres of macro- and microchromosomes accumulated the highest amount of the HP1β protein as compared with the remaining chromomeres. The character of distribution of the H3K9 me3 and H3K27 me3 histone modifications, as well as phosphorylated H4 and H2A histones, was different. Phosphorylated H4 and H2A histones were distributed proportionally to the staining by DNA specific dyes and were accumulated in all chromosomes, while trimethylated H3K9 histone was enriched in the regions of constitutive heterochromatin. We assume that the HP1β heterochromatin protein is involved in compaction and transcriptional inactivation of the chromatin in chromomeres of the lampbrush chromosomes.



Molecular genetic and karyological analysis of antlered sculpins of Enophrys diceraus group (Cottidae)
Abstract
Molecular genetic and karyological analyses of antlered sculpin, Enophrys diceraus, from the Sea of Japan and the Sea of Okhotsk were carried out. The karyotype of this species was studied for the first time. On the basis of karyological analysis, it was established that E. diceraus from the Sea of Japan and the Sea of Okhotsk was polymorphic in terms of the number of chromosomes and their morphology (2n = 36, 35, and 37, NF = 40). It was suggested that the karyotype with 35 chromosomes could have been produced as a result of Robertsonian translocation; the karyotype with 37 chromosomes could have been produced by crossing of individuals with different number of chromosomes. On the basis of the molecular genetic analysis of the mitochondrial COI and 16S rRNA genes, considerable differences between E. diceraus from the Sea of Japan and the Sea of Okhotsk corresponding to the level of interspecies genetic variability were established. It is concluded that E. diceraus from the Sea of Japan belongs to another species, most likely, E. namiyei.



Medical Genetics
Association of combinations of polymorphisms in fibroblast growth factor receptor 2 gene with breast cancer among various ethnic groups
Abstract
A search for association of polymorphisms in loci rs2981582, rs2420946, rs17102287, rs1219648, rs2981578, and rs17542768 in fibroblast growth factor receptor 2 (FGFR2) gene was performed using the “case-control” method among the major ethnic groups of Kazakhstan. Restriction fragments length polymorphism analysis of DNA obtained from 495 Kazakh and 195 Russian women with breast cancer (BC) revealed no statistically significant differences compared with the control group (190 Kazakhs, 170 Russians). An assessment of combination associations of alleles and genotypes (patterns) with BC was performed using the APSampler algorithm. Association of risk type (OR > 1.4; PFischer < 0.05; Ppermutation < 0.05) in the Kazakh group identified two patterns, including allele C at site rs2420946, while the T allele was present in four protective patterns (OR < 0.70). No significant association of the examined polymorphisms with BC risk in the Russian group was revealed.



Short Communications
Draft genome sequencing and analysis of mutations of Streptomyces fradiae strain ATCC19609-Olg4R, resistant to (33S)-33-deoxy-33-thiocyanatooligomycin А
Abstract
Data of draft genome sequencing of Streptomyces fradiae-АТСС19609-Olg4R strain, resistant to (33S)-33-deoxy-33-thiocyanatooligomycin A, are presented. Comparative analysis of the genomes of S. fradiae wild-type strain ATCC19609 and S. fradiae strain ATCC19609-Olg4R showed the single nucleotide substitution that led to A(600)T change in the conservative P-loop NTPase region of class IV helicase gene, which, probably, promoted the resistance of S. fradiae strain ATCC19609-Olg4R to (33S)-33-deoxy-33-thiocyanatooligomycin A.



The frequency of inactive sucrase-isomaltase variant in indigenous populations of Northeast Asia
Abstract
The AG dinucleotide deletion at the rs781470490 locus of the sucrase-isomaltase gene (SI gene), common in the Eskimo people of Canada and Greenland, was screened in the indigenous populations of Northeast Asia (among Chukchi, Koryaks, Evens, and Evenks). Deletion was detected at the frequency of 14.3% (95% confidence interval (CI): 4.7–33.6%) in Chukchi, 7.3% (95% CI: 3.4–14.3%) in Koryaks, and 3.5% (95% CI: 1.3–8.5%) in Evens. Since the deletion at the rs781470490 locus leads to premature termination of the sucrase-isomaltase synthesis and, accordingly, to the appearance of an inactive form of the enzyme, it is suggested that its wide prevalence in populations of the Far North of America and Asia is associated with adaptation to an Arctic diet deficient in sucrose.



Erratum
Erratum to: “Apropos phenomenon of female predominance among carriers of reciprocal translocations with reproductive disorders”
Abstract
Female predominance among carriers of reciprocal translocations (rec) has been commonly explained by male sterility, although appropriate comparative studies had not been carried out. The objectives of this study were comparative analysis of rates of carriers of balanced chromosomal rearrangement among patients with infertility and among patients with recurrent miscarriages and comparative analysis of maleto-female ratio (sex ratio, SR) in the carriers. Metaanalysis of data from 34 publications on prevalence of chromosomal rearrangements in couples with reproductive failures showed that among couples with infertility, a carrier of reciprocal translocation was found in 0.48% (74/15306) of males and in 0.41% (64/15456) of females, SR =1.17, not different statistically from the population value of 1.06 (p = 0.36). Carriers of Robertsonian translocations (rob) were detected in 0.58% of males and in 0.11% of females, SR = 5.3 (p = 5 × 10–13). Carriers of an inversion (inv) were found at a slightly lower rate among infertile males compared to females, 0.16% vs 0.27%, SR = 0.59 (p = 0.020). Among patients with miscarriages, carriers of rec were detected at a significantly higher rate compared to patients with infertility, in 0.78% (151/19353) of males and in 1.42% (281/19737) of females, SR = 0.55 (p = 1 × 10–9). Carriers of rob were found in 0.33% of male patients and in 0.6% of female patients, SR = 0.56 (p = 9.7 × 10–5). Rates of male and female carriers of inv were 0.17 and 0.20%, respectively. The data obtained corroborate with the observation of female predominance among fertile carriers of rob due to male sterility. However, female predominance among fertile carriers of rec cannot be explained by the same reason. Firstly, there is no significant male prevalence among infertile carriers, secondly, the rate of rec carriers among infertile males is lower compared to that among fertile patients. This phenomenon might be explained by factors inherent to oogenesis affecting meiotic segregation of rearranged.


