Vavilovskii Zhurnal Genetiki i Selektsii最新文献

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Mitochondrial DNA data allow distinguishing the subpopulations in the widespread Demoiselle crane (Anthropoides virgo). 线粒体DNA数据允许在广泛分布的野鹤(Anthropoides virgo)中区分亚种群。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-07-01 DOI: 10.18699/vjgb-25-60
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
{"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}
引用次数: 0
Optimization of technology steps for obtaining white cabbage DH-plants. 白甘蓝dh植株制备工艺步骤的优化。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-07-01 DOI: 10.18699/vjgb-25-55
A I Mineykina, K S Stebnitskaia, M G Fomicheva, L L Bondareva, A S Domblides, E A Domblides
{"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}
引用次数: 0
Unconventional animal models to study the role of telomeres in aging and longevity. 非常规的动物模型来研究端粒在衰老和长寿中的作用。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-07-01 DOI: 10.18699/vjgb-25-53
E V Simoroz, J Vasilevska, N A Arakelyan, A D Manakhov, E I Rogaev
{"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}
引用次数: 0
Expression analysis of microRNA and lncRNA in visceral adipose tissue of obese and non-obese individuals. 肥胖者和非肥胖者内脏脂肪组织中microRNA和lncRNA的表达分析。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-06-01 DOI: 10.18699/vjgb-25-48
А Бейркдар, Д Е Иванощук, О В Тузовская, Н С Широкова, Е В Каштанова, Я В Полонская, Ю И Рагино, Е В Шахтшнейдер
{"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}
引用次数: 0
Variability of carotenoid synthesis and degradation genes in Russian durum wheat cultivars. 俄罗斯硬粒小麦品种类胡萝卜素合成和降解基因的变异。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-06-01 DOI: 10.18699/vjgb-25-40
A A Trifonova, K V Boris, L V Dedova, P N Malchikov, A M Kudryavtsev
{"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}
引用次数: 0
The effects of Non3 mutations on chromatin organization in Drosophila melanogaster. 非3突变对黑腹果蝇染色质组织的影响。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-06-01 DOI: 10.18699/vjgb-25-43
A A Yushkova, A A Ogienko, E N Andreyeva, A V Pindyurin, A E Letiagina, E S Omelina
{"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}
引用次数: 0
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. 利用CRISPR/Cas9技术,通过纠正患者特异性诱导多能干细胞MYH7中的p.Met659Ile (c.1977G>A)变异,生成ICGi019-B-1和ICGi019-B-2细胞系。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-06-01 DOI: 10.18699/vjgb-25-38
A E Shulgina, S V Pavlova, J M Minina, S M Zakian, E V Dementyeva
{"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}
引用次数: 0
Anthocyanins and phenolic compounds in colored wheat grain. 有色小麦籽粒中的花青素和酚类化合物。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-06-01 DOI: 10.18699/vjgb-25-42
E V Chumanova, T T Efremova, K V Sobolev, E A Kosyaeva
{"title":"Anthocyanins and phenolic compounds in colored wheat grain.","authors":"E V Chumanova, T T Efremova, K V Sobolev, E A Kosyaeva","doi":"10.18699/vjgb-25-42","DOIUrl":"https://doi.org/10.18699/vjgb-25-42","url":null,"abstract":"<p><p>Wheat is an extremely important and preferred source of human nutrition in many regions of the world. The production of biofortified colored-grain wheat varieties, which are known to contain a range of biologically active compounds, including anthocyanins, phenolic compounds, vitamins and minerals, reflects a worldwide trend toward increasing dietary diversity and improving diet quality through the development and introduction of diverse functional foods. The present work describes the genetic systems that regulate the biosynthesis and accumulation of anthocyanins in the pericarp and aleurone layer, the presence of which imparts purple, blue and black grain color. The review is devoted to the systematization of available information on the peculiarities of qualitative and quantitative content of anthocyanins, soluble and insoluble phenolic acids in wheat grain of different color, as well as on indicators of antioxidant activity of alcoholic extracts of grain depending on the content of anthocyanins and phenolic compounds. A huge number of studies have confirmed that these compounds are antioxidants, have anti-inflammatory activity and their consumption makes an important contribution to the prevention of a number of socially significant human diseases. Consumption of colored cereal grain products may contribute to an additional enrichment of bioactive compounds in human diet along with the usual sources of antioxidants. Special attention in the review is paid to the description of achievements of Russia's breeders in developing promising varieties and lines with colored grain, which will be a key factor in expanding the opportunities of the domestic and international grain market.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 3","pages":"392-400"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144498333","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}
引用次数: 0
From cytogenetics to proteogenomics: new horizons in the study of aneuploidies. 从细胞遗传学到蛋白质基因组学:非整倍体研究的新视野。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-06-01 DOI: 10.18699/vjgb-25-37
K S Zadesenets, N B Rubtsov
{"title":"From cytogenetics to proteogenomics: new horizons in the study of aneuploidies.","authors":"K S Zadesenets, N B Rubtsov","doi":"10.18699/vjgb-25-37","DOIUrl":"https://doi.org/10.18699/vjgb-25-37","url":null,"abstract":"<p><p>Aneuploidy is defined as the loss or gain of a whole chromosome or its region. Even at early stages of development, it usually leads to fatal consequences, including developmental defects/abnormalities and death. For a long time, it was believed that the disruption of gene balance results in pronounced effects at both the cellular and organismal levels, adversely affecting organism formation. It has been shown that the gene imbalance resulting from aneuploidy leads to proteotoxic and metabolic stress within the cell, reduced cell proliferation, genomic instability, oxidative stress, etc. However, some organisms have exhibited tolerance to aneuploidies, which may even confer adaptive advantages, such as antibiotic resistance in pathogenic fungal strains. A significant factor likely lies in the complexity of the tissue and organ organization of specific species. Polyploid organisms are generally more tolerant of aneuploidy, particularly those that have recently undergone whole-genome duplication. This review places special emphasis on the examination of sex chromosome aneuploidies in humans. In addition to primary effects, or cis effects (changes in the quantity of the transcripts of genes located on the aneuploid chromosome), aneuploidy can induce secondary or trans effects (changes in the expression levels of genes located on other chromosomes). The results of recent studies have prompted a reevaluation of the impact of aneuploidy on the structural-functional organization of the genome, transcriptome, and proteome of both the cell and the entire organism. Despite the fact that, in the cases of aneuploidy, the expression levels for most genes correlate with their altered copy numbers in the cell, there have been instances of dosage compensation, where the transcript levels of genes located on the aneuploid chromosome remained unchanged. The review presents findings from recent studies focused on compensatory mechanisms of dosage compensation that modify gene product quantities at post-transcriptional and post-translational levels, alleviating the negative effects of aneuploidy on cellular homeostasis. It also discusses the influence of extrachromosomal elements on the spatial organization of the genome and the changes in gene expression patterns resulting from their presence. Additionally, the review specifically examines cases of segmental aneuploidy and changes in copy number variants (CNVs) in the genome. Not only the implications of their composition are considered, but also their localization within the chromosome and in various compartments of the interphase nucleus. Addressing these questions could significantly contribute to enhancing cytogenomic diagnostics and establishing a necessary database for accurate interpretation of identified cases of segmental aneuploidy and CNVs in the genome.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 3","pages":"335-348"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12183558/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144486522","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}
引用次数: 0
Methylation index of the DLK1 and MKRN3 genes in precocious puberty. 性早熟患者DLK1和MKRN3基因的甲基化指数。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-06-01 DOI: 10.18699/vjgb-25-47
E A Sazhenova, O Yu Vasilyeva, D A Fedotov, M B Kankanam Pathiranage, A D Lobanov, A Yu Sambyalova, E E Khramova, L V Rychkova, S A Vasilyev, I N Lebedev
{"title":"Methylation index of the DLK1 and MKRN3 genes in precocious puberty.","authors":"E A Sazhenova, O Yu Vasilyeva, D A Fedotov, M B Kankanam Pathiranage, A D Lobanov, A Yu Sambyalova, E E Khramova, L V Rychkova, S A Vasilyev, I N Lebedev","doi":"10.18699/vjgb-25-47","DOIUrl":"https://doi.org/10.18699/vjgb-25-47","url":null,"abstract":"<p><p>Precocious puberty (PP, OMIM 176400, 615346) is an autosomal dominant disorder caused by the premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, epigenetic, and environmental factors play a decisive role in determining the timing of puberty. In recent years, genetic variants in the KISS1, KISS1R, MKRN3, and DLK1 genes have been identified as genetic causes of PP. The MKRN3 and DLK1 genes are imprinted, and therefore epigenetic modifications, such as DNA methylation, which alter the expression of these genes, can also contribute to the development of PP. The aim of this study is to determine the methylation index of the imprinting centers of the DLK1 and MKRN3 genes in girls with a clinical presentation of PP. The methylation index of the imprinting centers of the DLK1 and MKRN3 genes was analyzed in a group of 45 girls (age 7.2 ± 1.9 years) with a clinical presentation of PP and a normal karyotype using targeted massive parallel sequencing after sodium bisulfite treatment of DNA. The control group consisted of girls without PP (n = 15, age 7.9 ± 1.6 years). No significant age differences were observed between the groups (p > 0.8). Analysis of the methylation index of the imprinting centers of the DLK1 and MKRN3 genes revealed no significant differences between patients with PP and the control group. However, in the group of patients with isolated adrenarche, an increased methylation index of the imprinting center of the MKRN3 gene was observed (72 ± 7.84 vs 56.92 ± 9.44 %, p = 0.005). In the group of patients with central PP, 3.8 % of patients showed a decreased methylation index of the imprinting center of the DLK1 gene, and 11.5 % of probands had a decreased methylation index of the imprinting center of the MKRN3 gene. Thus, this study demonstrates that not only genetic variants but also alterations in the methylation index of the imprinting centers of the DLK1 and MKRN3 genes can contribute to the development of PP.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 3","pages":"440-447"},"PeriodicalIF":0.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12183559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144486526","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}
引用次数: 0
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