Vavilovskii Zhurnal Genetiki i Selektsii最新文献

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Identification of fungal diseases in strawberry by analysis of hyperspectral images using machine learning methods. 利用机器学习方法分析高光谱图像识别草莓真菌病害。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-04-01 DOI: 10.18699/vjgb-25-34
A F Cheshkova
{"title":"Identification of fungal diseases in strawberry by analysis of hyperspectral images using machine learning methods.","authors":"A F Cheshkova","doi":"10.18699/vjgb-25-34","DOIUrl":"https://doi.org/10.18699/vjgb-25-34","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 2","pages":"310-319"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019567","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
Cystic fibrosis therapy: from symptoms to the cause of the disease. 囊性纤维化治疗:从症状到病因。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-04-01 DOI: 10.18699/vjgb-25-31
T N Kireeva, D I Zhigalina, N A Skryabin
{"title":"Cystic fibrosis therapy: from symptoms to the cause of the disease.","authors":"T N Kireeva, D I Zhigalina, N A Skryabin","doi":"10.18699/vjgb-25-31","DOIUrl":"https://doi.org/10.18699/vjgb-25-31","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 2","pages":"279-289"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12036567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057379","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
CropGene: a software package for the analysis of genomic and transcriptomic data of agricultural plants. CropGene:用于分析农业植物基因组和转录组数据的软件包。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-04-01 DOI: 10.18699/vjgb-25-35
A Yu Pronozin, D I Karetnikov, N A Shmakov, M E Bocharnikova, S D Afonnikova, D A Afonnikov, N A Kolchanov
{"title":"CropGene: a software package for the analysis of genomic and transcriptomic data of agricultural plants.","authors":"A Yu Pronozin, D I Karetnikov, N A Shmakov, M E Bocharnikova, S D Afonnikova, D A Afonnikov, N A Kolchanov","doi":"10.18699/vjgb-25-35","DOIUrl":"https://doi.org/10.18699/vjgb-25-35","url":null,"abstract":"<p><p>Currently, the breeding of agricultural plants is increasingly based on the use of molecular biological data on genetic sequences, which makes it possible to significantly accelerate the breeding process, create new plant varieties through genomic editing. These data have a large volume, variety and require a large amount of resources, both labor and computing, to analyze the costs. Data analysis of such volume and complexity can be effective only when using modern bioinformatics methods, which include algorithms for identifying genes, predicting their function, and evaluating the effect of mutation on plant phenotype. Such an analysis has recently become impossible without the use of integrated software systems that solve problems of different levels by executing computational pipelines. The paper describes the CropGene software package developed for the comprehensive analysis of genomic and transcriptomic data of agricultural plants. CropGene includes several blocks of bioinformatic analysis, such as analysis of gene variations, assembly of genomes and transcriptomes, as well as annotation of genes and proteins. CropGene implements new methods for analyzing long non-coding RNAs, protein domains, searching and analyzing polymorphisms, and genome-wide association research. CropGene has a user-friendly interface and supports working with various types of data, which greatly simplifies its use for researchers who do not have deep knowledge in the field of bioinformatics. The paper provides examples of the use of CropGene for the analysis of agricultural organisms such as Solanum tuberosum and Zea mays. With CropGene, genetic markers have been identified that explain up to 50 % of the variability in seed color parameters; potential genes that may become promising material for producing potato varieties; more than 100 thousand new long non-coding RNAs. Orthogroups were also found, the domain structure of which shows a marked similarity with the domain architecture of characteristic secreted A2 phospholipases. Thus, CropGene is an important tool for scientists and practitioners working in the field of agrobiotechnology and plant genetics.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 2","pages":"320-329"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12011622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144049552","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 role of retroelements in Parkinson's disease development. 逆转录因子在帕金森病发展中的作用。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-04-01 DOI: 10.18699/vjgb-25-32
R N Mustafin
{"title":"The role of retroelements in Parkinson's disease development.","authors":"R N Mustafin","doi":"10.18699/vjgb-25-32","DOIUrl":"https://doi.org/10.18699/vjgb-25-32","url":null,"abstract":"<p><p>Parkinson's disease is the second most common neurodegenerative disease characterized by accumulation of alpha-synuclein and Lewy bodies in the brain's substantia nigra. Genetic studies indicate an association of various SNPs, many of which are located in intergenic and intronic regions, where retrotransposons and non-coding RNA genes derived from them reside, with this disease. Therefore, we hypothesize the influence of SNPs in retroelement genes on Parkinson's disease development. A susceptibility factor is retrotransposons activation with age, since the disease is associated with aging. We hypothesized that alpha-synuclein accumulates in the brain due to its interaction with transcripts of activated retroelements. As a result of a defective antiviral response and a large number of RNA targets for this protein, its aggregates form Lewy bodies in neurons with inflammation and neurodegeneration development in the substantia nigra. As evidence, data are presented on the role of alpha-synuclein in the antiviral response with binding to RNA viruses, which are characterized by the ability to activate retroelements that have evolved from exogenous viruses integrated into the human genome. Activation of LINE1s in the brain, endogenous retroviruses, and LINE1s in the blood serum of Parkinson's disease patients was detected. An additional mechanism contributing to the progression of the disease is mitochondrial dysfunction due to insertions of Alu elements into their genomes using LINE1 enzymes. Mechanisms of activated retrotransposons' influence on microRNAs that evolved from them are described. Analysis of the scientific literature allowed us to identify 35 such microRNAs (miR-1246, -1249, -1271, -1273, -1303, -151, -211, -28, -31, -320b, -320d, -330, -335, - 342, -374a, -374b, -421, -4293, -4317, -450b, -466, -487b, -493, -495, -5095, -520d, -576, -585, -6088, -619, -625, -626, -769, -885, -95) associated with Parkinson's disease, which may become promising targets for its treatment and diagnosis.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 2","pages":"290-300"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12015615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144020091","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
Correction of GenBank's taxonomic entry error raises a new issue regarding intergeneric relationships among salangid fishes (Osmeriformes: Salangidae). 对GenBank分类输入错误的更正提出了一个关于Salangidae (osmeriforma: Salangidae)间属间关系的新问题。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-04-01 DOI: 10.18699/vjgb-25-29
E S Balakirev
{"title":"Correction of GenBank's taxonomic entry error raises a new issue regarding intergeneric relationships among salangid fishes (Osmeriformes: Salangidae).","authors":"E S Balakirev","doi":"10.18699/vjgb-25-29","DOIUrl":"https://doi.org/10.18699/vjgb-25-29","url":null,"abstract":"<p><p>The GenBank database of publicly available nucleotide sequences is the largest genetic repository providing vitally important resources for downstream applications in biology and medicine. The concern raised about reliability of GenBank data necessitates monitoring of possible taxonomic entry errors. A case of mitochondrial genome (or mitogenome) misidentification for a salangid fish belonging to the genus Neosalanx (Osmeriformes, Salangidae) is considered in this report. The GenBank database contains four complete mitogenome sequences of N. taihuensis with the accession numbers JX524196, KP170510, MH348204, and MW291630. The overall mean p-distance for these sequences is quite high (7.01 ± 0.14 %) but becomes 29-fold lower (0.24 ± 0.05 %) after excluding the MW291630 mitogenome. An analysis of all available nucleotide sequences of salangids has shown that the observed inconsistency in the level of divergence between N. taihuensis mitogenomes is due to species misidentification. It has turned out that the mitogenome MW291630 available in GenBank does not belong to N. taihuensis, but is, in fact, a mitogenome of N. jordani misidentified as N. taihuensis. The resolved taxonomic identity of the MW291630 mitogenome, as well as an extended sample of species with investigated single-marker sequences, has raised some new issues regarding intergeneric relationships in salangid fishes. In particular, the obtained data do not support synonymization of the genus Neosalanx with Protosalanx, as was suggested in the last revision of the salangid classification. As the comparative analysis of interspecific and intergeneric divergences shows, Protosalanx is not an all-inclusive clade that includes all Neosalanx species. Instead, it consists of (at least) two evolutionary distinct lineages with the level of genetic divergence between them matching well the mean value of divergence between the other salangid genera. Further analysis using nuclear genome-wide data is required to have new insights into the evolution of salangid fishes.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 2","pages":"259-267"},"PeriodicalIF":0.9,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144041234","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
Heat shock proteins in protein folding and reactivation. 热休克蛋白在蛋白质折叠和再激活中的作用。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-02-01 DOI: 10.18699/vjgb-25-02
D Malkeyeva, E V Kiseleva, S A Fedorova
{"title":"Heat shock proteins in protein folding and reactivation.","authors":"D Malkeyeva, E V Kiseleva, S A Fedorova","doi":"10.18699/vjgb-25-02","DOIUrl":"https://doi.org/10.18699/vjgb-25-02","url":null,"abstract":"<p><p>Throughout their lives, cells synthesise new and dispose of the old, denatured proteins and insoluble protein aggregates. An important role in maintaining proteostasis is played by chaperones, which fold various proteins and promote degradation of denatured or misfolded proteins via proteasomes or autophagy. Despite protein folding being an accurate process, as organisms age and experience stress, errors accumulate, which leads to the formation of protein aggregates that can result in pathological changes. In addition, stress factors such as elevated temperature and altered pH can promote protein denaturation that can result in the proteins not only losing their native functions, but also gaining novel cytotoxic properties. With the increase of human average lifespan, more and more cases of proteinopathies - diseases caused by disruptions in proteostasis, e. g. Alzheimer's disease, Huntington's disease etc. - emerge. Therefore, identification of mechanisms preventing the formation of cytotoxic protein aggregates and promoting their clearance is of high importance. Heat shock proteins (HSPs) are the molecular chaperones involved in folding nascent proteins and refolding the denatured ones, leading to their reactivation. Heat shock proteins vary in structure and functions and are found in all prokaryotes and eukaryotes discovered to date. HSPs are constantly synthesised in cells under normal conditions, and a multitude of them are dramatically up-regulated during stress, which includes heat shock (which earned them their name) and metabolic stress caused by the increased numbers of misfolded proteins. In this review, we describe mechanisms of action and functions of members of five heat shock protein families.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 1","pages":"7-14"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933894/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721896","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
Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the SLC26A4 gene in patients with hearing loss from the Tyva Republic (Southern Siberia). 西伯利亚南部Tyva共和国听力损失患者SLC26A4基因携带致病变异c.1545T>G、c.2027T>A和c.919-2A>G的单倍型比较分析
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-02-01 DOI: 10.18699/vjgb-25-17
V Yu Danilchenko, M V Zytsar, E A Panina, K E Orishchenko, O L Posukh
{"title":"Comparative analysis of haplotypes carrying pathogenic variants c.1545T>G, c.2027T>A and c.919-2A>G of the SLC26A4 gene in patients with hearing loss from the Tyva Republic (Southern Siberia).","authors":"V Yu Danilchenko, M V Zytsar, E A Panina, K E Orishchenko, O L Posukh","doi":"10.18699/vjgb-25-17","DOIUrl":"https://doi.org/10.18699/vjgb-25-17","url":null,"abstract":"<p><p>Pathogenic variants in the SLC26A4 gene (OMIM #605646), leading to non-syndromic recessive hearing loss type 4 (DFNB4) and Pendred syndrome, significantly contribute to the etiology of hearing loss in many populations of the world. The spectrum and prevalence of different pathogenic SLC26A4 variants are characterized by wide ethnogeographical variability. A high frequency of some of them in certain regions of the world may indicate either their independent origin or be a consequence of the founder effect. The proportion of SLC26A4-associated hearing loss in Tuvinian patients (the Tyva Republic, Southern Siberia) is one of the highest in the world (28.2 %) and the vast majority of mutant SLC26A4 alleles are represented by three pathogenic variants c.919-2A>G, c.2027T>A and c.1545T>G (69.3, 17.5 and 8.0 %, respectively). Their overall carrier frequency in the Tuvinian population reaches 7.1 %. The accumulation of these variants in Tuvinian patients suggests a role of the founder effect in their prevalence in Tuva, which can be confirmed by the common genetic background (haplotypes) for each of them. For reconstruction of haplotypes in the carriers of variants c.1545T>G and c.2027T>A, the genotyping data of a panel of polymorphic genetic markers were used: five STRs (four of them flank the SLC26A4 gene at different distances and one is intragenic) and nine intragenic SNPs. Comparative analysis of the reconstructed haplotypes for c.1545T>G and c.2027T>A with previously obtained data on haplotypes for the c.919-2A>G variant showed that each of the analyzed variants has a specific (similar for all carriers of a particular variant) genetic background, apparently inherited from different \"founder ancestors\". These data confirm the cumulative founder effect in the prevalence of pathogenic variants c.1545T>G, c.2027T>A, and c.919- 2A>G of the SLC26A4 gene in the indigenous population of the Tyva Republic. The obtained data are relevant both for predicting the prevalence of SLC26A4-caused hearing loss and for development of region-specific DNA diagnostics of inherited hearing loss in the Tyva Republic.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 1","pages":"144-152"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721879","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
Computer reconstruction of gene networks controlling anxiety levels in humans and laboratory mice. 控制人类和实验室小鼠焦虑水平的基因网络的计算机重建。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-02-01 DOI: 10.18699/vjgb-25-19
E G Vergunov, V A Savostyanov, A A Makarova, E I Nikolaeva, A N Savostyanov
{"title":"Computer reconstruction of gene networks controlling anxiety levels in humans and laboratory mice.","authors":"E G Vergunov, V A Savostyanov, A A Makarova, E I Nikolaeva, A N Savostyanov","doi":"10.18699/vjgb-25-19","DOIUrl":"https://doi.org/10.18699/vjgb-25-19","url":null,"abstract":"<p><p>Anxiety is a normotypic human condition, and like any other emotion has an adaptive value. But excessively high or low anxiety has negative consequences for adaptation, which primarily determines the importance of studying these two extreme conditions. At the same time, it is known that the perception of aversive stimuli associated with anxiety leads to changes in the activity of the brain's cingulate cortex. The advantage of animals as models in studying the genetic bases of anxiety in humans is in the ability to subtly control the external conditions of formation of a certain state, the availability of brain tissues, and the ability to create and study transgenic models, including through the use of differentially expressed genes of small laboratory animals from the family Muridae with low and high anxiety. Within the framework of the translational approach, a three-domain potential gene network, which is associated with generalized anxiety in humans, was reconstructed using mouse models with different levels of anxiety by automatically analyzing the texts of scientific articles. One domain is associated with reduced anxiety in humans, the second with increased anxiety, and the third is a dispatcher who activates one of the two domains depending on the status of the organism (genetic, epigenetic, physiological). Stages of work: (I) A list of genes expressed in the cingulate cortex of the wild type CD-1 mouse line from the NCBI GEO database (experiment GSE29014). Using the tools of this database, differences in gene expression levels were revealed in groups of mice with low and high (relatively normal) anxiety. (II) Search for orthologs of DEG in humans and mice associated with anxiety in the OMA Orthology database. (III) Computer reconstruction using the ANDSystem cognitive system based on (a) human orthologous genes from stage (III), (b) human genes from the MalaCards database associated with human anxiety. The proven methods of the translational approach for the reconstruction of gene networks for behavior regulation can be used to identify molecular genetic markers of human personality traits, propensity to psychopathology.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 1","pages":"162-170"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11937012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721880","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 role of SELE gene polymorphism in ST-elevation myocardial infarction. SELE基因多态性在st段抬高型心肌梗死中的作用。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-02-01 DOI: 10.18699/vjgb-25-16
N P Babushkina, A M Nikolaeva, A D Dolbnya, V E Shavrak, V V Ryabov
{"title":"The role of SELE gene polymorphism in ST-elevation myocardial infarction.","authors":"N P Babushkina, A M Nikolaeva, A D Dolbnya, V E Shavrak, V V Ryabov","doi":"10.18699/vjgb-25-16","DOIUrl":"https://doi.org/10.18699/vjgb-25-16","url":null,"abstract":"<p><p>Ischemic heart disease (IHD) is an important medical and social problem. ST-elevation myocardial infarction (STEMI) is the most severe form of IHD, affecting all layers of the heart muscle. One of the diagnostic criteria for endothelial dysfunction in myocardial infarction is the level of sE-selectin, a cell adhesion molecule that recruits neutrophils and induces neutrophil inflammation. The aim of this study is to investigate intronic polymorphisms rs5353, rs3917412 and rs1534904 of the E-selectin coding gene SELE in patients with STEMI. We have analyzed a group of patients with STEMI (n = 74) and a population sample of Tomsk (n = 136) as the control group. The frequencies of the rs5353 genotypes in the SELE gene have shown statistically significant differences between patients and the control sample (p = 0.004). The CC genotype is a predisposing factor to STEMI (OR = 6.93, CI:95 % (1.84-26.04), χ2 = 8.69, p = 0.002). The analyzed markers were not studied previously in cardiovascular diseases (CVDs) and were rarely involved in association studies at all; there is no information on these SNPs in the leading databases. At the same time, all three variants, according to the RegulomeDB classification, belong to the functional class 1f, and are highly likely to have regulatory potential relative not only to the SELE gene, but also to other genes in the nearby region. The analysis of the functional significance of the studied markers has shown the presence of a region more extensive than one gene, which is co-regulated by the studied nucleotide substitutions. The association of rs5353 with STEMI identified in this study once again confirms the involvement of the SELE gene in the pathogenesis of CVDs. It is possible that this entire region of the genome may be involved indirectly in the pathogenesis of CVD through the systems of inflammation, immune response and DNA repair.</p>","PeriodicalId":44339,"journal":{"name":"Vavilovskii Zhurnal Genetiki i Selektsii","volume":"29 1","pages":"135-143"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11937004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721631","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
Analysis of similarities and differences of accessions belonging to Prunus domestica L. and P. insititia L. using endocarp dimensions and shape variations. 利用内果皮尺寸和形状变化分析家李和野李材料的异同。
IF 0.9
Vavilovskii Zhurnal Genetiki i Selektsii Pub Date : 2025-02-01 DOI: 10.18699/vjgb-25-06
T Milošević, N Milošević
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