Vavilovskii Zhurnal Genetiki i Selektsii最新文献

{"title":"Receptor-like leucine-rich repeat kinases of subfamily III are involved in the recognition of Pectobacterium spp. by Solanaceae plants.","authors":"E V Shrub, N V Kalubaka, P V Vychyk, O A Badalyan, Y A Nikolaichik","doi":"10.18699/vjgb-25-58","DOIUrl":"https://doi.org/10.18699/vjgb-25-58","url":null,"abstract":"<p><p>The genomes of Solanaceae plants contain over 600 receptor-like protein kinase genes with leucine-rich repeats (LRR-RLK), many likely associated with pathogen detection, but very few functionally characterized. Pectobacterium spp. are the major bacterial pathogens of agricultural crops, particularly potatoes and other Solanaceae plants. For relevant potato pathogens from the genus Pectobacterium, specific immune receptors have not been described in Solanaceae. However, in Malus × domestica, four LRR-RLK from the LRRIII subfamily (DIPM1-4) have been characterized as receptors for the related pathogen Erwinia amylovora. DIPMs specifically interact with the effector protein DspE and are involved in E. amylovora recognition. Since the DspE ortholog is also the main effector in Pectobacterium spp., we performed a phylogenetic analysis of LRRIII subfamily receptors in the most relevant Solanaceae representatives together with a much better characterized LRR-RLKIII of Arabidopsis thaliana and identified nine clusters of related RLKs. Clustering followed by analysis of published data allowed us to functionally characterize this RLK family and suggest the most likely candidates for checking interactions with the main effector of pectobacteria, DspE. Testing the kinase domains of representative cluster members in a yeast two-hybrid system revealed four Solanaceae RLKs interacting with the DspE effector from Pectobacterium versatile. Virus-induced silencing of these RLK genes demonstrated their involvement in P. versatile recognition. The RLK6 gene from Solanum bulbocastanum, which is not an ortholog of the DIPM proteins in apple, seems to be the most promising potential resistance gene. This work expands our understanding of LRR-RLKIII subfamily RLKs and their role in plant immunity, providing a foundation for future development of disease-resistant Solanaceae varieties.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 4","pages":"549-558"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12277581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influence of selected rootstock on growth parameters, accumulation of IAA and vitamins in scions of Cucumis sativus L. and Cucumis melo L.","authors":"A Zh Shoibekova, S K Jantassov, A S Jantassova, A T Samatov, T S Sagindykov, A N Karimova, G A Serikbayeva, M R Toishimanov, G T Bari","doi":"10.18699/vjgb-25-59","DOIUrl":"https://doi.org/10.18699/vjgb-25-59","url":null,"abstract":"<p><p>Grafting with resistant rootstocks is one of the most effective methods to prevent soil-borne diseases, and it can influence vegetative growth, flowering, maturation periods, and fruit quality, thereby ensuring high yields. In this study, four species from the family Cucurbitaceae were tested as potential candidates for grafting cucumber and melon: Cucurbita ficifolia Bouché, Cucurbita moschata L., Cucurbita pepo L. and Cucurbita maxima Duch. The study focused on the grafting methods that optimize growth parameters and the accumulation of hormones and vitamins in rootstock. The results indicated that Cucurbita maxima Duch. is the most suitable rootstock material for grafting to Cucumis sativus L. and Cucumis melo L., as it exhibited superior plant and root mass. Among the two grafting methods tested, the tongue approach ('X') demonstrated the best results in terms of growth parameters and the accumulation of indole-3-acetic acid (IAA) and vitamins in the scion leaves. IAA and vitamin concentrations were measured using HPLC in grafted samples at 2, 4 and 6 weeks of age. In the 'X' method, IAA accumulation from the end of the second week was twice as high compared to control plants. This method also showed higher vitamin content, with increased levels of B vitamins and vitamin C at the end of the 4th week (25.2-135.1 and 52.3-67.0 %, respectively), and vitamins A, E, D3 , K starting from the 2nd week (1.5-2 times higher). Conversely, the insertion or slant cut grafting method ('Y') did not show any significant increase in the analyzed parameters and was comparable to the control. The 'X' method for grafting both Cucumis sativus L. and Cucumis melo L. onto Cucurbita maxima Duch. plants demonstrated the best results and is recommended for production.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 4","pages":"559-567"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12277582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytophysiological manifestations of wheat's defense reactions against stem rust induced by the biofungicide Novochizol.","authors":"A B Shcherban, L Ya Plotnikova, V V Knaub, E S Skolotneva, V V Fomenko","doi":"10.18699/vjgb-25-57","DOIUrl":"https://doi.org/10.18699/vjgb-25-57","url":null,"abstract":"<p><p>Biologization is a priority direction of agricultural production. One of the promising approaches to solve the biologization problem is the use of chitosan-based biopreparations to stimulate plant growth and protect plants from a wide range of pathogens. Currently, active work is underway to create and test new chitosan preparations. Novochizol was obtained as a result of intramolecular crosslinking of linear chitosan molecules and has a globular shape. Previously, a Novochizol-stimulating effect on the growth and development of common wheat was demonstrated. However, the induced resistance mechanisms against rust diseases have not been studied before. The reported studies have revealed the dose effect of the preparation on the development of wheat stem rust. The best results of visual estimation of plant reactions were obtained with 0.125 and 0.75 % Novochizol pretreatment four days before rust infection. After pretreatment of susceptible cv. Novosibirsk 29 seedlings, a resistant reaction appeared and the urediniopustule density was decreased. Cytophysiological studies have shown that 0.75 % Novochizol stimulated an intensive accumulation of hydrogen peroxide Н2О2 in the leaves of the infected and healthy plants within 48 hours post inoculation (h p/in). During the period of 48-144 h p/in, H2O2 gradually disappeared from tissues, but its content increased significantly at the sporulation stage around pustules. However, Novochizol did not induce the hypersensitivity reaction in infected plants. The preparation induced an earlier and more intensive (compared with untreated plants) accumulation of phenolic substances with different autofluorescence in the zones around pathogen colonies. Novochizol induced a change in the ratio of phenols with different spectral characteristics towards compounds with an increased content of syringin derivatives. This work is the first stage in the study of Novochizol effects on wheat defense mechanisms against stem rust. The research will be continued using molecular genetics, biochemical and cytophysiological methods.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 4","pages":"539-548"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12277587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mitochondrial DNA data allow distinguishing the subpopulations in the widespread Demoiselle crane (Anthropoides virgo).","authors":"Е А Mudrik, Е I Ilyashenko, P A Kazimirov, K D Kondrakova, T P Archimaeva, L D Bazarov, О А Goroshko, Ts Z Dorzhiev, A N Kuksin, К А Postelnykh, V V Shurkina, V Yu Ilyashenko, A V Shatokhina, D V Politov","doi":"10.18699/vjgb-25-60","DOIUrl":"https://doi.org/10.18699/vjgb-25-60","url":null,"abstract":"<p><p>The polymorphism of the mtDNA cytochrome b (cyt b) gene's partial sequences has been studied in the Demoiselle crane (Anthropoides virgo Linnaeus, 1778) for the first time. Based on cyt b variability, the population genetic structure of the species was characterized within most of its range in Russia. Among 157 individuals we identified 18 haplotypes, nine of which were unique. In the European samples, we observed greater haplotype and nucleotide diversity and stronger genetic differentiation than in the Asian ones. Gene flow between different parts of the Demoiselle crane range is probably mediated by birds breeding in the Trans-Urals. The overall genetic subdivision of the species as estimated by FST was 0.265 (p <0.001). The structure of the gene pool is formed by three main haplotypes, one of which predominates in the Azov-Black Sea region, the second in the Caspian and Volga-Ural regions, and the third is most common in the Asian samples. Based on the correspondence of intraspecific genetic differentiation of the Demoiselle cranes from different parts of the range to their flyways, we propose to distinguish the following subpopulations: (1) Azov-Black Sea/Chadian; (2) Caspian/Sudanese; (3) Trans-Ural/Indian; (4) South Siberian/Indian; (5) Baikal/Indian and (6) Trans-Baikal/Indian. The obtained data create the basis for monitoring the genetic diversity of the Demoiselle crane and developing a scientific background for measures to protect the gene pool of the species as a whole and its subpopulations.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 4","pages":"568-577"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12277586/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimization of technology steps for obtaining white cabbage DH-plants.","authors":"A I Mineykina, K S Stebnitskaia, M G Fomicheva, L L Bondareva, A S Domblides, E A Domblides","doi":"10.18699/vjgb-25-55","DOIUrl":"https://doi.org/10.18699/vjgb-25-55","url":null,"abstract":"<p><p>White cabbage is one of the economically important crops among the representatives of the genus Brassica L. To create highly productive F1 hybrids with improved characteristics, the breeders need genetically diverse breeding material, which takes a long time to produce. It is possible to significantly accelerate this stage of breeding by obtaining doubled haploids (DH-plants). The lack of standardized, efficient and reproducible protocols for in vitro cultivation of different plant species, covering several factors and their interactions, often hinders the practical implementation of the method. Plant material, cultivation conditions and composition of nutrient media are determinants of embryogenesis efficiency. As a result of this study, the protocol for obtaining doubled haploids in in vitro culture of isolated microspores was optimized for late maturing white cabbage. The optimal bud size for introduction into in vitro culture varied from 3.5 to 5.0 mm. For the studied genotypes, the combined effect of high-temperature stress at 32 °C for 48 h and pH 5.8 stimulated the highest embryoid yield. The use of 3.5 g/L phytogel as a gelling agent was not effective. The use of flow cytometry allowed for separation of doubled haploids (69.8 %) from haploids (8.4 %), triploids (1.5 %) and tetraploids (20.3 %) at an early stage of development. Molecular genetic analysis with polymorphic microsatellite loci (SSR-analysis) confirmed the haploid origin of the diploid regenerant plants.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 4","pages":"517-529"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12277580/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unconventional animal models to study the role of telomeres in aging and longevity.","authors":"E V Simoroz, J Vasilevska, N A Arakelyan, A D Manakhov, E I Rogaev","doi":"10.18699/vjgb-25-53","DOIUrl":"https://doi.org/10.18699/vjgb-25-53","url":null,"abstract":"<p><p>The progressive shortening of telomeres is significantly implicated in various cellular processes related to aging, including the limitation of cellular proliferative lifespan through the activation of DNA damage response pathways, ultimately leading to replicative senescence. Telomere shortening is considered an indicator of biological age rather than chronological age. The restoration of telomere length is mediated by the enzyme telomerase; however, it is crucial to maintain a balance in this process, as excessive telomerase activity and overly elongated chromosomes may increase the susceptibility of individuals to cancer. It has been proposed that variations in telomere length among individuals of the same chronological age may be associated with differences in potential lifespan. However, recent studies suggest that telomere length may serve only as a rough estimate of the aging process and is likely not a clinically relevant biomarker for age-related diseases or mortality risk. Furthermore, variations in telomere length are not solely determined by chronological age; rather, they are modulated by a multitude of factors, including genetic predispositions, environmental conditions, and heightened metabolic activities such as reproduction and body weight, which may lead to increased telomere attrition in certain species. It has been argued that traditional animal models, such as the mouse (Mus musculus) and the rat (Rattus norvegicus domestica), are suboptimal for investigating the relationship between telomere length and aging, as their lifespans and telomere lengths do not adequately reflect those of humans. Consequently, it is recommended to use long-lived species as they would provide a more appropriate framework for such research initiatives. This review aims to examine the correlation between telomere length and longevity in various non-traditional long-lived animal models, evaluating their suitability for investigating the molecular mechanisms underlying telomere attrition in the context of aging. Nevertheless, the question of whether telomere length is a causative factor or a consequence of longevity remains an area that necessitates further investigation.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 4","pages":"496-507"},"PeriodicalIF":0.9,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12280224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expression analysis of microRNA and lncRNA in visceral adipose tissue of obese and non-obese individuals.","authors":"А Бейркдар, Д Е Иванощук, О В Тузовская, Н С Широкова, Е В Каштанова, Я В Полонская, Ю И Рагино, Е В Шахтшнейдер","doi":"10.18699/vjgb-25-48","DOIUrl":"https://doi.org/10.18699/vjgb-25-48","url":null,"abstract":"<p><p>Long non-coding RNAs (lncRNAs) and microRNAs (miRNAs) play important roles in all biological processes, including adipogenesis, lipid metabolism, and insulin response. Analyzing expression patterns of lncRNAs and miRNAs in human visceral fat tissue can enhance our understanding of their roles in metabolic disorders. Our research aims to investigate the expression of lncRNAs (ASMER1, SNHG9, P5549, P19461, and GAS5) and miRNAs (miR-26A, miR-222, miR-221, and miR-155) in visceral adipose tissues of individuals with abdominal obesity (n = 70) compared to their levels in non-obese participants (n = 31), using Real-Time PCR. Among the tested miRNAs, only miR-26A was significantly downregulated in the visceral adipose tissue of obese individuals, with no significant change in the expression of miR- 26A in obese people with or without type 2 diabetes. Similarly, of the tested lncRNAs, only GAS5 showed significantly higher expression levels in obese patients with type 2 diabetes (T2D) (n = 10) compared to obese patients without T2D (n = 60). To test possible interactions between the analyzed non-coding RNAs, we used Spearman's bivariate correlation test. GAS5 expression levels showed a weak negative correlation (p < 0.05, rs = 0.25) with miR-155 levels in obese patients only. Conversely, a strong positive correlation (p <0.01, rs = 0.92) between SNHG9 and GAS5 was found in the non-obese group, with a weaker correlation in abdominally obese patients (p < 0.01, rs = 0.67); additionally, miR-26A and miR-155 levels were moderately correlated in the non-obese group (p < 0.05, rs = 0.47) and were found to correlate weakly in obese patients (p < 0.05, rs = 0.26). Our results showed that abdominally obese participants demonstrated higher expression levels of miR-26A in visceral adipose tissue and a significantly lower correlation between GAS5 and SNHG9 expression when compared to non-obese subjects.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 3","pages":"448-457"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12188000/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144498334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Variability of carotenoid synthesis and degradation genes in Russian durum wheat cultivars.","authors":"A A Trifonova, K V Boris, L V Dedova, P N Malchikov, A M Kudryavtsev","doi":"10.18699/vjgb-25-40","DOIUrl":"https://doi.org/10.18699/vjgb-25-40","url":null,"abstract":"<p><p>Yellow index is an important quality parameter of durum wheat cultivars, associated with carotenoid pigment content in grain and the level of carotenoid degradation during processing, and determining the yellow color of products made from durum wheat. Molecular markers of genes that influence carotenoid content can be used for fast identification of valuable genotypes and development of new high-quality durum wheat cultivars. The aim of the study was to investigate the domestic durum wheat gene pool using molecular markers of the yellow pigment synthesis (Psy-A1) and degradation (Lpx-B1) genes. Using two markers of the phytoene synthase Psy- A1 gene (PSY1-A1_STS and YP7A-2) and three markers of the lipoxygenase Lpx-B1 locus (Lpx-B1.1a/1b, Lpx- B1.1c and Lpx- B1.2/1.3), 54 durum wheat cultivars were studied for the first time. For 38 cultivars, yellow pigment content in grain was also assessed. The detected allelic variation of the phytoene synthase Psy-A1 and lipoxygenase Lpx-B1 genes was rather low. The most common Psy-A1 alleles among the studied cultivars were Psy-A1l for the PSY1- A1_STS marker and Psy-A1d for the YP7A-2 marker, identified in 51 cultivars and associated with high carotenoid content. According to the markers of the Lpx-B1 locus, haplotype II, associated with medium lipoxygenase activity, identified in 43 cultivars, was predominant. Haplotype III, associated with low enzyme activity, was identified in only three winter durum wheat cultivars (Donchanka, Gelios and Leucurum 21). Despite the predominance of allelic variants associated with increased carotenoid content and moderate lipoxygenase activity, the studied cultivars had different levels of yellow pigment content in grain, from low to high.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 3","pages":"370-379"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12183556/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144486544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effects of Non3 mutations on chromatin organization in Drosophila melanogaster.","authors":"A A Yushkova, A A Ogienko, E N Andreyeva, A V Pindyurin, A E Letiagina, E S Omelina","doi":"10.18699/vjgb-25-43","DOIUrl":"https://doi.org/10.18699/vjgb-25-43","url":null,"abstract":"<p><p>The nucleolus is a large membraneless subnuclear structure, the main function of which is ribosome biogenesis. However, there is growing evidence that the function of the nucleolus extends beyond this process. While the nucleolus is the most transcriptionally active site in the nucleus, it is also the compartment for the location and regulation of repressive genomic domains and, like the nuclear lamina, is the hub for the organization of inactive heterochromatin. Studies in human and Drosophila cells have shown that a decrease in some nucleolar proteins leads to changes in nucleolar morphology, heterochromatin organization and declustering of centromeres. This work is devoted to the study of the effects of Novel nucleolar protein 3 (Non3) gene mutations in D. melanogaster on the organization of chromatin in the nucleus. Previously, it was shown that partial deletion of the Non3 gene leads to embryonic lethality, and a decrease in NON3 causes an extension of ontogenesis and formation of a Minute-like phenotype in adult flies. In the present work, we have shown that mutations in the Non3 gene suppress the position effect variegation (PEV) and increase the frequency of meiotic recombination. We have analyzed the classical heterochromatin markers in Non3 mutants and shown that the amount of the HP1 protein as well as the modification of the histone H3K9me2 do not change significantly in larval brains and salivary glands compared to the control in Western blot analysis. Immunostaining with antibodies to HP1 and H3K9me2 did not reveal a significant reduction or change in the localization patterns of these proteins in the pericentromeric regions of salivary gland polytene chromosomes either. We analyzed the localization of the HP1 protein in Non3 mutants using DNA adenine methyltransferase identification (DamID) analysis and did not find substantial differences in protein distribution compared to the control. In hemocytes of Non3 mutants, we observed changes in the morphology of the nucleolus and in the size of the region detected by anti-centromere antibodies, but this was not accompanied by declustering of centromeres and their untethering from the nucleolar periphery. Thus, the NON3 protein is important for the formation/function of the nucleolus and is required for the correct chromatin packaging, but the exact mechanism of NON3 involvement in these processes requires further investigations.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 3","pages":"401-413"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187998/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144498336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Generation of the ICGi019-B-1 and ICGi019-B-2 lines via correction of the p.Met659Ile (c.1977G>A) variant in MYH7 of patient-specific induced pluripotent stem cells using CRISPR/Cas9.","authors":"A E Shulgina, S V Pavlova, J M Minina, S M Zakian, E V Dementyeva","doi":"10.18699/vjgb-25-38","DOIUrl":"https://doi.org/10.18699/vjgb-25-38","url":null,"abstract":"<p><p>The problem of interpretation of the genetic data from patients with inherited cardiovascular diseases still remains relevant. To date, the clinical significance of approximately 40 % of variants in genes associated with inherited cardiovascular diseases is uncertain, which requires new approaches to the assessment of their pathogenetic contribution. A combination of the induced pluripotent stem cell (iPSC) technology and editing the iPSC genome with CRISPR/Cas9 is thought to be the most promising tool for clarifying variant pathogenicity. A variant of unknown significance in MYH7, p.Met659Ile (c.1977G>A), was previously identified in several genetic screenings of hypertrophic cardiomyopathy patients. In this study, the single nucleotide substitution was corrected with CRISPR/Cas9 in iPSCs generated from a carrier of the variant. As a result, two iPSC lines (ICGi019-B-1 and ICGi019-B-2) were generated and characterized using a standard set of methods. The iPSC lines with the corrected p.Met659Ile (c.1977G>A) variant in MYH7 possessed a morphology characteristic of human pluripotent cells, expressed markers of the pluripotent state (the OCT4, SOX2, NANOG transcription factors and SSEA-4 surface antigen), were able to give rise to derivatives of three germ layers during spontaneous differentiation, and retained a normal karyotype (46,XY). No CRISPR/Cas9 off-target activity was found in the ICGi019-B-1 and ICGi019-B-2 iPSC lines. The maintenance of the pluripotent state and normal karyotype and the absence of CRISPR/Cas9 off-target activity in the iPSC lines with the corrected p.Met659Ile (c.1977G>A) variant in MYH7 allow using the iPSC lines as an isogenic control for further studies of the variant pathogenicity and its impact on the hypertrophic cardiomyopathy development.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 3","pages":"349-357"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12183560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144486523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}