Vavilovskii Zhurnal Genetiki i Selektsii最新文献

Imputation is a method that supplies missing information about genetic variants that could not be directly genotyped with DNA microarrays or low-coverage sequencing. Imputation plays a critical role in genome-wide association studies (GWAS). It leads to a significant increase in the number of studied variants, which improves the resolution of the method and enhances the comparability of data obtained in different cohorts and/or by using different technologies, which is important for conducting meta-analyses. When performing imputation, genotype information from the study sample, in which only part of the genetic variants are known, is complemented using the standard (reference) sample, which has more complete genotype data (most often the results of whole-genome sequencing). Imputation has become an integral part of human genomic research due to the benefits it provides and the increasing availability of imputation tools and reference sample data. This review focuses on imputation in human genomic research. The first section of the review provides a description of technologies for obtaining information about human genotypes and characteristics of these types of data. The second section describes the imputation methodology, lists the stages of its implementation and the corresponding programs, provides a description of the most popular reference panels and methods for assessing the quality of imputation. The review concludes with examples of the use of imputation in genomic studies of samples from Russia. This review shows the importance of imputation, provides information on how to carry it out, and systematizes the results of its application using Russian samples.

The use of the gene pool of wild relatives for expanding the genetic diversity of common wheat is an important task of breeding programs. However, the practical application of common wheat lines with alien genetic material is constrained by the lack of information on chromosomal rearrangements and the negative impact of the transferred material on agronomically important traits. This research is aimed at studying 14 introgression lines with the T2DL.2DS-2SS translocation and the 5S(5D) substitution from Aegilops speltoides obtained from crossing common wheat varieties (Aurora, Krasnodarskaya 99, Nika Kubani) with the genome-substituted form Avrodes (BBAASS). Hybrid lines with different combinations of T2DL.2DS-2SS and T1BL.1RS translocations and 5S(5D) substitution were characterized by resistance to leaf and yellow rusts, productivity components and technological qualities of grain. The assessment of the varieties' resistance to rust diseases showed that Krasnodarskaya 99, Nika Kubani and the Aurora variety, which is a carrier of the T1BL.1RS translocation, are highly susceptible to diseases, while the presence of the T2DL.2DS-2SS translocation and the 5S(5D) substitution, both together and separately, provides resistance to fungal pathogens. The analysis of the lines using markers designed for known resistance genes of Ae. speltoides did not reveal the presence of the Lr28, Lr35 and Lr51 genes in the lines. The results suggest that the genetic material of Ae. speltoides transferred to chromosomes 2D and 5D contains new resistance genes. To determine the effect of the T2DL.2DS-2SS translocation and the 5S(5D) substitution on the productivity and technological qualities of grain, the lines were assessed by weight of 1000 grains, grain weight and number of ears per 1 m2, by protein and gluten content, gluten quality and general baking evaluation. A positive effect was determined upon the weight of 1000 grains, protein and gluten content. There were no significant differences in other characteristics. The T2DL.2DS-2SS translocation and the 5S(5D) substitution did not have a negative effect on the productivity and technological quality of grain, and are of interest for breeding practice.

Among the many diseases that affect potato plants, viral infections are the most common and cause significant damage to farms, affecting both the yield and quality of potatoes. In this regard, an important condition for preserving the potato seed fund in Russia is systematic monitoring and early highly specific detection of potato viral infections. The purpose of the work is to study samples of potato varieties collected in the Novosibirsk region for the presence of viral infections using RT-PCR. 130 potato plants from three districts of the Novosibirsk region (NR) were studied. As a result of monitoring, the following viruses were identified: PVY (potato virus Y), PVS (potato virus S), PVM (potato virus M) and PVX (potato virus X). The quarantine pathogen potato spindle tuber viroid (PSTVd) was not detected in any of the samples analyzed. The maximum frequency of occurrence in the region was noted for three viruses: PVY, PVM and PVS. A significant proportion of the samples were mixed viral infections: the occurrence of the combination of infection PVY + PVM in plants was 25.0 %, and PVY + PVS, 22.6 %. To develop methods for determining the strain affiliation of the studied samples, the nucleotide sequences of the capsid protein genes of 10 Y-virus isolates were sequenced. Phylogenetic analysis of the studied sequences of NR isolates was carried out with a set of sequences of reference strains 261-4, Eu-N, N:O, NE-11, NTNa, NTNb, N-Wi, O, O5, SYR_I, SYR_II and SYR_III retrieved from GenBank. As a result of phylogenetic analysis, it was established that NR viral samples fell into two groups of strains: group 1, which also includes isolates of the reference strains 261-4/SYR_III, and group 2, NTNa. The obtained results of the strain affiliation of NR samples lay the basis for the development of DNA and immunodiagnostic systems for identifying PVY circulating in NR, as well as for elucidating the source and routes of entry of specific virus strains.Key words: Solanum tuberosum; viral infections; RT-PCR; potato Y virus; phylogenetic analysis.

Common wheat is one of the most important food crops in the world. Grain harvests can be increased by reducing losses from diseases and environmental stresses. The tertiary gene pool, including Thinopyrum spp., is a valuable resource for increasing genetic diversity and wheat resistance to fungal diseases and abiotic stresses. Distant hybridization between wheat and Thinopyrum spp. began in the 1920s in Russia, and later continued in different countries. The main results were obtained using the species Th. ponticum and Th. intermedium. Additionally, introgression material was created based on Th. elongatum, Th. bessarabicum, Th. junceiforme, Agropyron cristatum. The results of introgression for resistance to diseases (leaf, stem, and stripe rusts; powdery mildew; Fusarium head blight; and Septoria blotch) and abiotic stresses (drought, extreme temperatures, and salinity) to wheat was reviewed. Approaches to improving the agronomic properties of introgression breeding material (the use of irradiation, ph-mutants and compensating Robertsonian translocations) were described. The experience of long-term use in the world of a number of genes from the tertiary gene pool in protecting wheat from leaf and stem rust was observed. Th. ponticum is a nonhost for Puccinia triticina (Ptr) and P. graminis f. sp. tritici (Pgt) and suppresses the development of rust fungi on the plant surface. Wheat samples with the tall wheatgrass genes Lr19, Lr38, Sr24, Sr25 and Sr26 showed defence mechanisms similar to nonhosts resistance. Their influence led to disruption of the development of surface infection structures and fungal death when trying to penetrate the stomata (prehaustorial resistance or stomatal immunity). Obviously, a change in the chemical properties of fungal surface structures of races virulent to Lr19, Lr24, Sr24, Sr25, and Sr26 leads to a decrease in their adaptability to the environment. This possibly determined the durable resistance of cultivars to leaf and stem rusts in different regions. Alien genes with a similar effect are of interest for breeding cultivars with durable resistance to rust diseases and engineering crops with the help of molecular technologies.

To date, a number of studies have been published on the phylogenetics of woolly mammoths (Mammuthus primigenius), ranging from analyses of parts of the mitochondrial genome to studies of complete nuclear genomes. However, until recently nothing was known about the genetic diversity of woolly mammoths in southern Siberia, in the Minusinsk Depression in particular. Within the framework of this effort, libraries for high-throughput sequencing of seven bone samples of woolly mammoths were obtained, two-round enrichment using biotinylated probes of modern mtDNA of Elephas maximus immobilised on magnetic microspheres and sequencing with subsequent bioinformatic analysis were carried out. Phylogenetic reconstructions showed the presence of all studied mammoths in clade I, which expanded its range. The assignment of mammoth mitotypes in the Minusinsk Depression to different clusters within clade I may indicate a sufficiently high diversity of their gene pool. Phylogeographic reconstructions revealed a genetic proximity of mitochondrial lineages of Late Pleistocene mammoths of the Minusinsk Depression and other regions of eastern Siberia and estimated their divergence time in the range of 100-150 thousand years ago, which indicates active migrations of woolly mammoths over vast territories of eastern Siberia in the late Middle Pleistoceneearly Late Pleistocene.

The transition of detached fragments of mitochondrial DNA into the nucleus and their integration into chromosomal DNA is a special kind of genetic variability that highlights the relation between the two genomes and their interaction in a eukaryotic cell. The human genome contains several hundreds of insertions of mtDNA fragments (NUMTS). This paper presents an overview of the current state of research in this area. To date, evidence has been obtained that the occurrence of new mtDNA insertions in the nuclear genome is a seldom but not exceptionally rare event. The integration of new mtDNA fragments into the nuclear genome occurs during double-strand DNA break repair through the non-homologous end joining mechanism. Along with evolutionarily stable "genetic fossils" that were integrated into the nuclear genome millions of years ago and are shared by many species, there are NUMTS that could be species-specific, polymorphic in a species, or "private". Partial copies of mitochondrial DNA in the human nuclear genome can interfere with mtDNA during experimental studies of the mitochondrial genome, such as genotyping, heteroplasmy assessment, mtDNA methylation analysis, and mtDNA copy number estimation. In some cases, the insertion of multiple copies of the complete mitochondrial genome sequence may mimic paternal inheritance of mtDNA. The functional significance of NUMTS is poorly understood. For instance, they may be a source of variability for expression and splicing modulation. The role of NUMTS as a cause of hereditary diseases is negligible, since only a few cases of diseases caused by NUMTS have been described so far. In addition, NUMTS can serve as markers for evolutionary genetic studies. Of particular interest is the meaning of NUMTS in eukaryotic genome evolution. The constant flow of functionally inactive DNA sequences from mitochondria into the nucleus and its significance could be studied in view of the modern concepts of evolutionary theory suggesting non-adaptive complexity and the key role of stochastic processes in the formation of genomic structure.

Low intake of micro- and macroelements and vitamins in food negatively affects the health of more than two billion people around the world provoking chronic diseases. For the majority of the world's population, these are soft and durum wheats that provide beneficial nutrients, however their modern high-yielding varieties have a significantly depleted grain mineral composition that have reduced mineral intake through food. Biofortification is a new research trend, whose main goal is to improve the nutritional qualities of agricultural crops using a set of classical (hybridization and selection) methods as well and the modern ones employing gene/QTL mapping, bioinformatic analysis, transgenesis, mutagenesis and genome editing. Using the classical breeding methods, biofortified varieties have been bred as a part of various international programs funded by HarvestPlus, CIMMYT, ICARDA. Despite the promise of transgenesis and genome editing, these labor-intensive methods require significant investments, so these technologies, when applied to wheat, are still at the development stage and cannot be applied routinely. In recent years, the interest in wheat biofortification has increased due to the advances in mapping genes and QTLs for agronomically important traits. The new markers obtained from wheat genome sequencing and application of bioinformatic methods (GWAS, meta-QTL analysis) has expanded our knowledge on the traits that determine the grain mineral concentration and has identified the key gene candidates. This review describes the current research on genetic biofortification of wheat in the world and in Russia and provides information on the use of cultivated and wild-relative germplasms to expand the genetic diversity of modern wheat varieties.

Soybean [Glycine max (L.) Merr.] is one of the important crops that are constantly increasing their cultivation area in Kazakhstan. It is particularly significant in the southeastern regions of the country, which are currently predominant areas for cultivating this crop. One negative trait reducing yield in these dry areas is pod dehiscence (PD). Therefore, it is essential to understand the genetic control of PD to breed new cultivars with high yield potential. In this study, we evaluated 273 soybean accessions from different regions of the world for PD resistance in the conditions of southeastern regions of Kazakhstan in 2019 and 2021. The field data for PD suggested that 12 accessions were susceptible to PD in both studied years, and 32 accessions, in one of the two studied years. The genotyping of the collection using a DNA marker for the Pdh1 gene, a major gene for PD, revealed that 244 accessions had the homozygous R (resistant) allele, 14 had the homozygous S (susceptible) allele, and 15 accessions showed heterozygosity. To identify additional quantitative trait loci (QTLs), we applied an association mapping study using a 6K SNP Illumina iSelect array. The results suggested that in addition to major QTL on chromosome 16, linked to the physical location of Pdh1, two minor QTLs were identified on chromosomes 10 and 13. Both minor QTLs for PD were associated with calmodulin-binding protein, which presumably plays an important role in regulating PD in dry areas. Thus, the current study provided additional insight into PD regulation in soybean. The identified QTLs for PD can be efficiently employed in breeding for high-yield soybean cultivars.

One of promising areas of wheat breeding is the creation of varieties with a high concentration of anthocyanins in the grain for the production of functional food products. Nonetheless, the question of how these compounds affect seed viability after long-term storage has remained unexplored. A comparative study on seed viability was conducted using a set of near-isogenic lines on the background of spring wheat variety Saratovskaya 29. These sister lines carry different combinations of recombinant DNA regions (on chromosomes 2A and 7D) containing dominant and recessive alleles at loci Pp3 and Pp-D1 (Pp: Purple pericarp), which determine the anthocyanin color of coleoptiles and of the pericarp. Seeds were germinated on two layers of water-moistened filter paper in a climatic chamber at a constant temperature of 20 °C on a 12-hour daylight cycle. During long-term natural storage of the seeds for up to 9 years in a dry ventilated room in Kraft bags at 20 ± 2 °C, the tested wheat samples experienced a loss of seed germination capacity of ~50 %; anthocyanins were found to not participate in the preservation of germination capacity. Nonetheless, anthocyanins contributed to the preservation of seed viability under unfavorable short-term conditions of a temperature rise to 48 °C at 100 % humidity. The accelerated aging test did not predict poor germination capacity after long-term seed storage. The results showed a neutral role of anthocyanins in the maintenance of seed germination capacity for 6-9 years under natural storage conditions at 20 ± 2 °C. A small statistically significant increase in grain germination capacity during natural aging was associated with the presence of a recombinant region containing the Pp-D1 gene on wheat chromosome 7D.

Chromatin is not randomly distributed within the nucleus, but organized in a three-dimensional structure that plays a critical role in genome functions. Сohesin and condensins are conserved multi-subunit protein complexes that participate in mammalian genome organization by extruding chromatin loops. The fine temporal regulation of these complexes is facilitated by a number of other proteins, one of which is microcephalin (Mcph1). Mcph1 prevents condensin II from associating with chromatin through interphase. Loss of Mcph1 induces chromosome hypercondensation; it is not clear to what extent this reorganization affects gene expression. In this study, we generated several mouse embryonic stem cell (mESC) lines with knockout of the Mcph1 gene and analyzed their gene expression profile. Gene Ontology analyses of differentially expressed genes (DEGs) after Mcph1 knockout revealed gene categories related to general metabolism and olfactory receptor function but not to cell cycle control previously described for Mcph1. We did not find a correlation between the DEGs and their frequency of lamina association. Thus, this evidence questions the hypothesis that Mcph1 knockout-mediated chromatin reorganization governs gene expression in mESCs. Among the negative effects of Mcph1 knockout, we observed numerous chromosomal aberrations, including micronucleus formation and chromosome fusion. This confirms the role of Mcph1 in maintaining genome integrity described previously. In our opinion, dysfunction of Mcph1 may be a kind of "Rosetta stone" for deciphering the function of condensin II in the interphase nucleus. Thus, the cell lines with knocked-out Mcph1 can be used to further study the influence of chromatin structural proteins on gene expression.