Vavilovskii Zhurnal Genetiki i Selektsii最新文献

Global losses of agricultural products from water scarcity could be greater than from all other causes combined. Water deficiency in plants can result from insufficient precipitation, elevated air temperatures, and other factors that reduce the water available in the soil. Most terrestrial plants are able to form symbiosis with arbuscular mycorrhizal fungi. Arbuscular mycorrhiza plays a key role in the mineral nutrition of many terrestrial plant species. Water transport in plants is regulated primarily by aquaporins, transmembrane proteins. Aquaporins help plants save water, which is an important component of the plant's adaptation strategy to water scarcity. Some studies suggest that arbuscular mycorrhizal fungi can decrease the expression of aquaporin genes in plants under drought conditions, which reduces water transport within host plant tissues and conserves available water. On the other hand, there is little scientific evidence of the interaction mechanisms between plants and arbuscular mycorrhizal fungi during aquaporin regulation. In addition, the information in different sources on the aquaporin functions in different plant species may be contradictory. Plant aquaporins are represented by several subfamilies; their number varies for different species. A more comprehensive study of these transporters can enhance our understanding of water transport in plants and assess how arbuscular mycorrhizal fungi can influence it. This review contains data on the history of studies of the structure, localization, phylogeny, and functions of aquaporins. Advancing the study of the symbiotic system functioning may contribute to the development of biofertilizers based on soil microorganisms for agricultural uses in the Russian Federation.

Leek (Allium porrum L.) is an economically important vegetable crop of the family Amaryllidaceae with a wide range of medicinal and nutritional properties, in part due to the accumulation of vitamin C (L-ascorbic acid, ascorbate). Ascorbate is an organic water-soluble compound, which performs many functions in plant cell metabolism, including as one of an effective antioxidant in plant cell responses to biotic and abiotic stress factors. Ascorbate metabolism includes biosynthesis (mainly the L-galactose pathway) and recycling (reduction of oxidized forms to ascorbate). The gene networks that determine ascorbate metabolism in leek plants are poorly understood. In this work, crosses of leek varieties/lines were carried out. Accessions of F1 hybrids were characterized for seed germination rate, ascorbate content and expression of ascorbate biosynthesis (PGI, PMI, PMM, VTC1b, GME1, GME2, VTC2, GPP, GalDH, GalLDH) and recycling (APX1, APX2, MDHAR1, MDHAR4, MDHAR5, DHAR2, GR) genes in seedlings, as well as green leaves and bleached stem parts of the adult plant. A search for correlations between the level of expression of ascorbate metabolism genes and the amount of vitamin C in leeks was also carried out. It was shown that the studied hybrids are characterized by high (89-100 %) seed germination, with the exception of the hybrid from the 74 × Alligator cross (55 %). An increased level of expression of the VTC2, MDHAR1, MDHAR4 and/ or MDHAR5 genes was detected in the seedlings and green leaves of nine F1 hybrids, which allowed us to consider these samples promising in terms of possible stress resistance. Four hybrids that were characterized by the lowest (33 × 30, 74 × Alligator) and highest (81 × 95, 36 × 38) ascorbate content in seedlings were selected for a further detailed analysis of adult plants for the content of soluble sugars and ascorbate, gene expression and morphological characteristics (length, thickness and weight of the false stem). It was confirmed that green leaves of the 36 × 38 and 81 × 95 hybrids contain significantly more ascorbate than the 33 × 30 and 74 × Alligator hybrids. In all four hybrids, the ascorbate content was significantly lower in the bleached stems than in the green leaves. Accessions 36 × 38 and 81 × 95 were also characterized by the highest amount of soluble sugars in the bleached part of the false stem used for food. In addition, the false stem formed by the 81 × 95 hybrid was larger and heavier than the stems of the other three hybrids. A direct dependence of ascorbate content on the transcript level of ascorbate recycling genes (APX2, MDHAR1, MDHAR4) in green leaves was revealed, which can be used in the breeding of stress-resistant leek hybrids with a high content of vitamin C.

Precocious puberty (PP, E30.1, Е22.8, Е30.9 according to ICD 10, MIM 176400, 615346) in children is a disorder in which secondary sexual characteristics appear earlier than the age norm. The timing of puberty is regulated by a complex interaction of genetic and epigenetic factors, as well as environmental and nutritional factors. This study aimed to search for pathogenic, likely pathogenic variants or variants of uncertain significance (VUS) in the KISS1, GPR54, DLK1, and MKRN3 genes in patients with the clinical picture of PP and normal karyotype by massive parallel sequencing. All identified genetic variants were confirmed by Sanger sequencing. The pathogenicity of identified genetic variants and the functional significance of the protein synthesized by them were analyzed according to recommendations for interpretation of NGS analysis results using online algorithms for pathogenicity prediction (Variant Effect Predictor, Franklin, Varsome, and PolyPhen2). Clinically significant genetic variants were detected in the heterozygous state in the KISS1R, DLK1, and MKRN3 genes in 5 of 52 probands (9.6 %) with PP, including 3 of 33 (9.1 %) in the group with central PP and 2 of 19 (10.5 %) in the group with gonadotropin-independent PP. Two children with gonadotropin-independent PP had VUS in the KISS1R gene (c.191T>C, p.Ile64Thr and c.233A>G, p.Asn78Ser), one of which was inherited from the father and the second, from the mother. The remaining patients with central PP had likely pathogenic genetic variants: DLK1:c.373delC(p.Gln125fs) de novo and DLK1:c.480delT(p.Gly161Alafs*49) of paternal origin. The third proband had a VUS variant in the MKRN3 gene (c.1487A>G, p.His496Arg), inherited from the father. All identified genetic variants were described for the first time in PP. Thus, in the present study, genetic variants in the KISS1R, DLK1, and MKRN3 genes in girls with PP were characterized.

Familial hypercholesterolaemia is a common monogenic disorder characterized by high plasma cholesterol levels leading to chronic cardiovascular disease with high risk and often early manifestation due to atherosclerotic lesions of the blood vessels. The atherosclerotic lesions in familial hypercholesterolaemia are mainly caused by pathogenic variants of the low-density lipoprotein receptor (LDLR) gene, which plays an important role in cholesterol metabolism. Normally, cholesterol-laden low-density lipoproteins bind to the LDLR receptor on the surface of liver cells to be removed from the bloodstream by internalisation with hepatocytes. In familial hypercholesterolaemia, the function of the receptor is impaired and the uptake of low-density lipoproteins is significantly reduced. As a result, cholesterol accumulates in the subendothelial space on the inner wall of blood vessels, triggering atherogenesis, the formation of atherosclerotic plaques. At present, there are no effective and universal approaches to the diagnosis and treatment of familial hypercholesterolaemia. A relevant approach to study the molecular genetic mechanisms of the disease and to obtain systems for screening chemical compounds as potential drugs is the generation of cellular models based on patient-specific induced pluripotent stem cells. The aim of our work was to derive an isogenic genetically modified induced pluripotent stem cell line by correcting the pathogenic allelic variant c.530C of the LDLR gene in the original iPSC previously obtained from a compound heterozygote patient with familial hypercholesterolaemia. The resulting isogenic iPSC line differs from the original by only one corrected nucleotide substitution, allowing us to study the direct effect of this pathogenic genetic variant on physiological changes in relevant differentiated cells. CRISPR/Cas-mediated base editing was used to correct the single nucleotide substitution. The resulting genetically modified iPSC line has pluripotency traits, a normal karyotype, a set of short tandem repeats identical to that in the original line and can be used to obtain differentiated derivatives necessary for the elaboration of relevant cell models.

Mosquitoes in the subgenus Stegomyia of the genus Aedes are vectors of a number of vertebrate viruses, including human arboviral fevers. Of particular interest is the study of the genetic characteristics of invasive populations of species in this group. We obtained, annotated and described the mitochondrial genomes of three Stegomyia mosquito species of the genus Aedes: Ae. albopictus, Ae. flavopictus and Ae. sibiricus. The mitochondrial genomes of Ae. flavopictus and Ae. sibiricus were obtained from mosquitoes from synanthropic populations in the Russian Far East. The mitochondrial genome of Ae. sibiricus is presented for the first time. The mitochondrial genome of Ae. albopictus was obtained for the C6/36 cell line. We selected three primer sets, for each mosquito species, that amplify the entire mitochondrial genome except for the control region and sequenced the genomes using the Sanger method. All three new genomes have an identical gene order. We identified 13 canonical protein-coding genes, 2 ribosomal RNA genes, and 22 transport RNA genes. Protein-coding genes have canonical start and stop codons with two exceptions. The canonical stop codon "TAA" is incomplete in the cox1 and cox2 genes. The cox1 gene lacks the canonical start codon for methionine. Nucleotide variability is mainly represented by point nucleotide substitutions. A phylogenetic analysis of the nucleotide sequences of complete mitochondrial genomes of all known mosquitoes species in the subgenus Stegomyia of the genus Aedes was performed. The data obtained made it possible to measure the ratio of synonymous to non-synonymous substitutions (Ka/Ks) in specific protein-coding genes.

The environmental conditions of cold sulfur springs favor the growth and development of abundant and diverse microbial communities with many unique sulfur cycle bacteria. In this work, the taxonomic diversity of microbial communities of three different biotopes (microbial mat, bottom sediment, and water) in the cold sulfur spring Bezymyanny located on the shore of Lake Baikal (Pribaikalsky district, Republic of Buryatia) was studied using high-throughput sequencing of the 16S rRNA gene. By sequencing the microbial mat, bottom sediment, and water samples, 76,972 sequences assigned to 1,714 ASVs (ASV, amplicon sequence variant) were obtained. Analysis of the ASV distribution by biotopes revealed a high percentage (66-93 %) of uniqueness in the three communities studied. An estimate of the alpha diversity index showed that bottom sediment community had higher indices, while microbial mat community was characterized by a lowest diversity. Bacteria of the phyla Pseudomonadota, Bacteroidota, Campylobacterota, Actinomycetota, Desulfobacterota dominated in different proportions in the studied communities. The features of the community structure of the studied biotopes were established. The microbial mat community was represented mainly by Thiothrix (43.2 %). The bottom sediment community was based on Sulfurovum (11.2 %) and co-dominated by unclassified taxa (3.2-1 %). Sequences assigned to the genera Novosphingobium, Nocardioides, Legionella, Brevundimonas, Sphingomonas, Bacillus, Mycobacterium, Sphingopyxis, Bradyrhizobium and Thiomicrorhabdus were found only in the water microbial community. Sulfur-oxidizing bacteria (SOB) and sulfate-reducing bacteria (SRB) were identified in all the communities studied, which indicates the ongoing processes of the sulfur cycle in the Bezymyanny spring ecosystem. It should be noted that sequences of unclassified and uncultivated sulfur cycle bacteria were present in all communities and a significant proportion of sequences (20.3-53.9 %) were not classified.

Miscanthus sinensis Andersson (Poaceae) grows in monsoon climate. For this reason, when cultured under the conditions of a short growing season of Western Siberia, full-fledged seeds do not have time to form. We have studied a large number of specimens of this species from Primorsky Krai in the collection of the Central Siberian Botanical Garden, SB RAS. Using these samples, it was possible for the first time to select forms that produce high-quality mature seeds in local conditions during a short growing season, possibly due to spontaneous hybridization of early flowering forms. We obtained the first and second (G1 and G2) generations from these seeds and checked for hybrids. The aim of this study is selection, biomorphological characterization of early flowering ornamental forms of M. sinensis and analysis of genetic polymorphism of the selected forms (S1, S2) and the obtained G1 and G2 generations using ISSR markers. Under the conditions of introduction, the selected samples of M. sinensis were characterized by complex resistance, high decorativeness, reached the ontogenetic state of mature generative plants and differed from other samples in the collection by early flowering and the formation of full-fledged seeds. Thus, the forms of M. sinensis we selected are promising for landscape design and breeding. When studying the genetic structure of G1, G2 and two generations of the sample using ISSR markers, three effective stable unique PCR fragments were identified. A study of the genetic variability of the resulting G1 generation showed complete uniformity of genotypes. In the G2 generation, variability was observed, and we found five sets of genotypes, which were also confirmed in the dendrogram. As a result, unique molecular polymorphic fragments were identified. Their length was 300-3000 bp, and the genetic formula for certification of M. sinensis was compiled.

Over the past few years, a revolution has occurred in cytogenetics, driven by the emergence and spread of methods for obtaining high-quality chromosome-level genome assemblies. In fact, this has led to a new tool for studying chromosomes and chromosomal rearrangements, and this tool is thousands of times more powerful than light microscopy. This tool has revolutionized the cytogenetics of many groups of insects for which previously karyotype information, if available at all, was limited to the chromosome number. Even more impressive are the achievements of the genomic approach for studying the general patterns of chromosome organization and evolution in insects. Thus, it has been shown that rapid transformations of chromosomal numbers, which are often found in the order Lepidoptera, are most often carried out in the most parsimonious way, as a result of simple fusions and fissions of chromosomes. It has been established that these fusions and fissions are not random and occur independently in different phylogenetic lineages due to the reuse of the same ancestral chromosomal breakpoints. It has been shown that the tendency for chromosome fissions is correlated with the presence in chromosomes of the so-called interstitial telomeres, i. e. telomere-like structures located not at the ends of chromosomes, but inside them. It has been revealed that, in most insects, telomeric DNA is not just a set of short repeats, but a very long sequence consisting of (TTAGG)n (or other telomeric motifs), regularly and specifically interrupted by retrotransposons, and the telomeric motifs are diverse in terms of their length and nucleotide composition. The number of high-quality chromosome-level genome assemblies available for insects in the GenBank database is growing exponentially and now exceeds a thousand species. Therefore, the exceptional prospects for using genomic data for karyotype analysis are beyond doubt.

Leaf spot, leaf scorch and phomopsis leaf blight are the most common fungal diseases of strawberry in Western Siberia, which significantly reduce its yield and quality. Accurate, fast and non-invasive diagnosis of these diseases is important for strawberry production. This article explores the ability of hyperspectral imaging to detect and differentiate symptoms caused to strawberry leaves by pathogenic fungi Ramularia tulasnei Sacc., Marssonina potentillae Desm. and Dendrophoma obscurans Anders. The reflection spectrum of leaves was acquired with a Photonfocus MV1-D2048x1088-HS05-96-G2-10 hyperspectral camera under laboratory conditions using the line scanning method. Five machine learning methods were considered to differentiate between healthy and diseased leaf areas: Support Vector Machine (SVM), K-Nearest Neighbors (KNN), Linear Discriminant Analysis (LDA), Partial Least Squares Discriminant Analysis (PLS-DA), and Random Forest (RF). In order to reduce the high dimensionality of the extracted spectral data and to increase the speed of their processing, several subsets of optimal wavelengths were selected. The following dimensionality reduction methods were explored: ROC curve analysis method, derivative analysis method, PLS-DA method, and ReliefF method. In addition, 16 vegetation indices were used as features. The support vector machine method demonstrated the highest classification accuracy of 89.9 % on the full range spectral data. When using vegetation indices and optimal wavelengths, the overall classification accuracy of all methods decreased slightly compared to the classification on the full range spectral data. The results of the study confirm the potential of using hyperspectral imaging methods in combination with machine learning for differentiating fungal diseases of strawberries.

Cystic fibrosis (CF) is a disease with a broad clinical and genetic spectrum of manifestations, significantly impacting the quality and duration of life of patients. At present, a diagnosis of CF enables the disease to be identified at the earliest stages of its development. The accelerated advancement of scientific knowledge and contemporary research techniques has transformed the methodology employed in the treatment of CF, encompassing a spectrum of approaches from symptomatic management to pathogenetic therapies. Pathogenetic therapy represents an approach to treatment that aims to identify methods of restoring the function of the CFTR gene. The objective of this review was to analyse and summarize the available scientific data on the pathogenetic therapy of CF. This paper considers various approaches to the pathogenetic therapy of CF that are based on the use of targeted drugs known as CFTR modulators. The article presents studies employing gene therapy techniques for CF, which are based on the targeted delivery of a normal copy of the CFTR gene cDNA to the respiratory tract via viral or non-viral vectors. Some studies have demonstrated the efficacy of RNA therapeutic interventions in restoring splicing, promoting the production of mature RNA, and increasing the functional expression of the CFTR protein. The review also analyzes literature data that consider methods of etiotropic therapy for CF, which consists of targeted correction of the CFTR gene using artificial restriction enzymes, the CRISPR/Cas9 system and a complex of peptide-nucleic acids. In a prospective plan, the use of cell therapy methods in the treatment of lung damage in CF is considered.