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RETRACTED: Zhao et al. Analysis of the Molecular Mechanism of Energy Metabolism in the Sex Differentiation of Chickens Based on Transcriptome Sequencing. Genes 2024, 15, 1035. 撤稿:Zhao et al.。基于转录组测序的鸡性别分化中能量代谢的分子机制分析。基因工程学报,2017,15,1035。
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-27 DOI: 10.3390/genes16070750
Ziduo Zhao, Zongyi Zhao, Fufu Cheng, Zhe Wang, Qingqing Geng, Yingjie Wang, Yingjie Niu, Qisheng Zuo, Yani Zhang
{"title":"RETRACTED: Zhao et al. Analysis of the Molecular Mechanism of Energy Metabolism in the Sex Differentiation of Chickens Based on Transcriptome Sequencing. <i>Genes</i> 2024, <i>15</i>, 1035.","authors":"Ziduo Zhao, Zongyi Zhao, Fufu Cheng, Zhe Wang, Qingqing Geng, Yingjie Wang, Yingjie Niu, Qisheng Zuo, Yani Zhang","doi":"10.3390/genes16070750","DOIUrl":"10.3390/genes16070750","url":null,"abstract":"<p><p>The journal retracts the article \"Analysis of the Molecular Mechanism of Energy Metabolism in the Sex Differentiation of Chickens Based on Transcriptome Sequencing\" [...].</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 7","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144505528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","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 Identification of a New Gene KRTAP 6-3 in Capra hircus and Its Potential for the Diameter Improvement of Cashmere Fibers. 山羊绒新基因KRTAP 6-3的鉴定及其在羊绒纤维增径中的应用前景。
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-19 DOI: 10.3390/genes16060721
Jian Cao, Zhanzhao Chen, Jianmin Zhang, Liang Cao, Shaobin Li
{"title":"The Identification of a New Gene <i>KRTAP 6-3</i> in <i>Capra hircus</i> and Its Potential for the Diameter Improvement of Cashmere Fibers.","authors":"Jian Cao, Zhanzhao Chen, Jianmin Zhang, Liang Cao, Shaobin Li","doi":"10.3390/genes16060721","DOIUrl":"10.3390/genes16060721","url":null,"abstract":"<p><strong>Background: </strong>Cashmere is one of the important economic products of goats, and the KRTAP gene family, as an important family of regulatory genes in the growth process of cashmere fiber, largely affects the quality of cashmere.</p><p><strong>Methods: </strong>In this study, the <i>KRTAP6-3</i> gene was identified and located on goat chromosome 1 using a goat genome homology search combined with a phylogenetic tree approach. The Longdong cashmere goat <i>KRTAP6-3</i> gene variation and its effect on cashmere quality were explored by using the polymerase chain reaction single-stranded conformation polymorphism (PCR-SSCP) technique, in situ hybridization, and the allele presence/absence model.</p><p><strong>Results: </strong>The results identified a total of six SNPs in <i>KRTAP6-3</i>, three of which were located in the coding region and two of which were synonymous mutations, in addition to 45- bp deletion sequences detected in alleles C and F. Moreover, the <i>KRTAP6-3</i> mRNA showed a strong expression signal in the cortical layer of the primary and secondary follicles in the inner root sheaths, as well as in the cells of the hair papillae and the matrices during the anagen phase, and signaling at the sites described above is attenuated during the telogen phase. The presence of allele C was associated with increased MFD (mean fiber diameter) (<i>p</i> < 0.01). The MFD of goats with allele C genotype (genotype AC) was significantly higher (<i>p</i> < 0.05) than that of goats without allele C genotype (genotypes AA and AB).</p><p><strong>Conclusions: </strong>This indicates that genetic variation in the <i>KRTAP6-3</i> gene in goats is significantly associated with cashmere traits and can serve as a candidate gene for molecular markers of cashmere traits.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bioinformatics-Driven Identification of Ferroptosis-Related Gene Signatures Distinguishing Active and Latent Tuberculosis. 生物信息学驱动的鉴别活动性和潜伏性结核的铁中毒相关基因特征。
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-18 DOI: 10.3390/genes16060716
Rakesh Arya, Hemlata Shakya, Viplov Kumar Biswas, Gyanendra Kumar, Sumendra Yogarayan, Harish Kumar Shakya, Jong-Joo Kim
{"title":"Bioinformatics-Driven Identification of Ferroptosis-Related Gene Signatures Distinguishing Active and Latent Tuberculosis.","authors":"Rakesh Arya, Hemlata Shakya, Viplov Kumar Biswas, Gyanendra Kumar, Sumendra Yogarayan, Harish Kumar Shakya, Jong-Joo Kim","doi":"10.3390/genes16060716","DOIUrl":"10.3390/genes16060716","url":null,"abstract":"<p><strong>Background: </strong>Tuberculosis (TB) remains a major global public health challenge, and diagnosing it can be difficult due to issues such as distinguishing active TB from latent TB infection (LTBI), as well as the sample collection process, which is often time-consuming and lacks sensitivity and specificity. Ferroptosis is emerging as an important factor in TB pathogenesis; however, its underlying molecular mechanisms are not fully understood. Thus, there is a critical need to establish ferroptosis-related diagnostic biomarkers for tuberculosis (TB).</p><p><strong>Methods: </strong>This study aimed to identify and validate potential ferroptosis-related genes in TB infection while enhancing clinical diagnostic accuracy through bioinformatics-driven gene identification. The microarray expression profile dataset GSE28623 from the Gene Expression Omnibus (GEO) database was used to identify ferroptosis-related differentially expressed genes (FR-DEGs) associated with TB. Subsequently, these genes were used for immune cell infiltration, Gene Set Enrichment Analysis (GSEA), functional enrichment and correlation analyses. Hub genes were identified using Weighted Gene Co-expression Network Analysis (WGCNA) and validated in independent datasets GSE37250, GSE39940, GSE19437, and GSE31348.</p><p><strong>Results: </strong>A total of 21 FR-DEGs were identified. Among them, four hub genes (<i>ACSL1</i>, <i>PARP9</i>, <i>TLR4</i>, and <i>ATG3</i>) were identified as diagnostic biomarkers. These biomarkers were enriched in immune-response related pathways and were validated. Immune cell infiltration, GSEA, functional enrichment and correlation analyses revealed that multiple immune cell types could be activated by FR-DEGs. Throughout anti-TB therapy, the expression of the four hub gene signatures significantly decreased in patients cured of TB.</p><p><strong>Conclusions: </strong>In conclusion, ferroptosis plays a key role in TB pathogenesis. These four hub gene signatures are linked with TB treatment effectiveness and show promise as biomarkers for differentiating TB from LTBI.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of Gene Expression Biomarkers Predictive of Latent Tuberculosis Infection Using Machine Learning Approaches. 使用机器学习方法识别预测潜伏性结核感染的基因表达生物标志物。
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-18 DOI: 10.3390/genes16060715
Youssra Boumait, Boutaina Ettetuani, Manal Chrairi, Afaf Lamzouri, Rajaa Chahboune
{"title":"Identification of Gene Expression Biomarkers Predictive of Latent Tuberculosis Infection Using Machine Learning Approaches.","authors":"Youssra Boumait, Boutaina Ettetuani, Manal Chrairi, Afaf Lamzouri, Rajaa Chahboune","doi":"10.3390/genes16060715","DOIUrl":"10.3390/genes16060715","url":null,"abstract":"<p><p>Latent tuberculosis infection (LTBi) affects nearly a quarter of the global population, yet current diagnostic methods are limited by low sensitivity and specificity. This study applied an integrative bioinformatics framework, incorporating machine learning techniques, to identify robust gene expression biomarkers associated with LTBi. We analyzed four publicly available transcriptomic datasets from peripheral blood mononuclear cells (PBMCs), representing latent, active, and healthy states. Differentially expressed genes (DEGs) were identified, followed by gene ontology (GO) enrichment, functional clustering, and miRNA interaction analysis. Semantic similarity, unsupervised clustering, and pathway enrichment were applied to refine the gene list. Key biomarkers were prioritized using receiver operating characteristic (ROC) curve analysis, with CCL2 and CXCL10 emerging as top candidates (AUC > 0.85). This multi-step approach demonstrates the potential of combining transcriptomic profiling with established machine learning and bioinformatics tools to uncover candidate biomarkers for improved LTBi detection, and it also provides a foundation for future experimental validation.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dopaminergic Modulation of Conscientiousness: DRD2 rs1799732 and Personality Traits in Elite Mixed Martial Arts Athletes. 优秀综合武术运动员责任心的多巴胺能调节:DRD2 rs1799732与人格特质。
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-18 DOI: 10.3390/genes16060720
Milena Lachowicz, Remigiusz Recław, Krzysztof Chmielowiec, Jolanta Chmielowiec, Kinga Łosińska, Aleksandra Suchanecka, Jolanta Masiak, Anna Grzywacz
{"title":"Dopaminergic Modulation of Conscientiousness: <i>DRD2</i> rs1799732 and Personality Traits in Elite Mixed Martial Arts Athletes.","authors":"Milena Lachowicz, Remigiusz Recław, Krzysztof Chmielowiec, Jolanta Chmielowiec, Kinga Łosińska, Aleksandra Suchanecka, Jolanta Masiak, Anna Grzywacz","doi":"10.3390/genes16060720","DOIUrl":"10.3390/genes16060720","url":null,"abstract":"<p><strong>Background: </strong>Personality traits, particularly Conscientiousness, are recognised as crucial psychological factors contributing to success in elite-level athletes. Emerging evidence suggests that individual differences in these traits are influenced by environmental exposure and genetic variation, especially within the dopaminergic system. The <i>DRD2</i> promoter polymorphism rs1799732, which affects dopamine D2 receptor expression, may modulate goal-directed behaviour and self-regulation traits.</p><p><strong>Methods: </strong>This study included 323 participants (141 elite mixed martial arts (MMA) athletes and 182 non-athlete controls). Participants completed the NEO Five-Factor Inventory (NEO-FFI). Genotyping for the <i>DRD2</i> rs1799732 polymorphism was conducted using real-time PCR. Group comparisons and two-way ANOVA were used to assess genotype-phenotype associations and gene × environment interactions.</p><p><strong>Results: </strong>Athletes scored significantly higher on Conscientiousness than controls. A significant main effect of the DRD2 rs1799732 genotype and a genotype × group interaction were observed for Conscientiousness. Specifically, athletes with the ins/ins genotype exhibited the highest levels of Conscientiousness, whereas individuals with the del/del genotype showed the lowest scores. No significant associations were found for other personality traits.</p><p><strong>Conclusions: </strong>These findings suggest that the DRD2 promoter polymorphism rs1799732 moderates the expression of Conscientiousness, particularly under the structured and demanding conditions experienced by elite athletes. Our results support a gene × environment interaction model, highlighting the importance of considering genetic predispositions in high-performance environments. These insights may inform personalised psychological support strategies tailored to athletes' genetic profiles, enhancing motivation, self-regulation and long-term athletic development.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular Characterization of CnHd3a and Spatial Expression of Its Alternative Splicing Forms Associated with Flowering Transition and Flower Development in Coconut Palm (Cocos nucifera L.). CnHd3a的分子特征及其与椰树开花转变和花发育相关的剪接形式的空间表达
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-18 DOI: 10.3390/genes16060718
Pariya Maneeprasert, Siriwan Thaisakun, Theerachai Thanananta, Narumol Thanananta, Noppamart Lokkamlue, Chareerat Mongkolsiriwatana
{"title":"Molecular Characterization of <i>CnHd3a</i> and Spatial Expression of Its Alternative Splicing Forms Associated with Flowering Transition and Flower Development in Coconut Palm (<i>Cocos nucifera</i> L.).","authors":"Pariya Maneeprasert, Siriwan Thaisakun, Theerachai Thanananta, Narumol Thanananta, Noppamart Lokkamlue, Chareerat Mongkolsiriwatana","doi":"10.3390/genes16060718","DOIUrl":"10.3390/genes16060718","url":null,"abstract":"<p><strong>Background: </strong>The flowering transition is a critical process determining the onset of reproductive development and fruit production. The molecular mechanisms underlying this process in coconuts are poorly understood; however, recent studies have identified <i>CnHd3a</i> as a potential regulator of the floral transition in coconuts.</p><p><strong>Methods: </strong>In this study, we characterized the molecular structure of <i>CnHd3a</i> and analyzed its alternative splicing forms in tall and dwarf varieties of coconut palms during the flowering transition. We used qRT-PCR to measure the expression levels of <i>CnHd3a</i> at different developmental stages.</p><p><strong>Results: </strong><i>CnHd3a</i> was expressed in leaves and the shoot apical meristem (SAM) during the flowering transition in both coconut varieties and flower tissues during flower development. Interestingly, the expression levels of complex isoforms of <i>CnHd3a</i> were higher in the leaves of dwarf coconuts than in those of tall coconuts, suggesting their involvement in shortening the vegetative growth phase of dwarf coconuts. The gene structure of <i>CnHd3a</i> was found to be conserved across different plant species, indicating the evolutionary conservation of the floral transition process.</p><p><strong>Conclusions: </strong>Our findings provide insight into the molecular mechanisms underlying the floral transition and flower development processes in coconut palm. The tissue-specific expression patterns of <i>CnHd3a</i> isoforms show their potential roles in growth and development. Further investigations focusing on the functional characterization of <i>CnHd3a</i> isoforms will have practical implications for coconut breeding and cultivation strategies.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193392/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Navigating the Genetic Landscape: Investigating the Opportunities and Risks of Cross-Species SNP Array Application in Catfish. 导航遗传景观:调查鲶鱼跨物种SNP阵列应用的机会和风险。
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-18 DOI: 10.3390/genes16060717
Bettina Hegedűs, Zoltán Bagi, Szilvia Kusza
{"title":"Navigating the Genetic Landscape: Investigating the Opportunities and Risks of Cross-Species SNP Array Application in Catfish.","authors":"Bettina Hegedűs, Zoltán Bagi, Szilvia Kusza","doi":"10.3390/genes16060717","DOIUrl":"10.3390/genes16060717","url":null,"abstract":"<p><p>Aquaculture has become a crucial component of global food production, yet catfish (10.8% of global finfish production) breeding programs often lack sufficient genetic data to fully utilize their production potential. In the last 15 years, there have been improvements in this field as two high-density (HD) single nucleotide polymorphism (SNP) arrays (250K and 690K) and low-density panels have been developed for North American channel catfish (<i>Ictalurus punctatus</i>) and blue catfish (<i>Ictalurus furcatus</i>). This lack of genomic tools hinders genetic improvement efforts in other commercially relevant catfish species besides them. Therefore, this review investigated the reason behind the lack of SNP chip usage in genetic-based selections in most catfish breeding programs and the cross-species applicability of the already existing high-density SNP arrays for genotyping members of the <i>Clariidae</i>, African catfish (<i>Clarias gariepinu</i>), and <i>Siluridae</i>, European catfish (<i>Silurus glanis</i>), families. This paper systematically reviews the literature of more than 16 SNP arrays, with 66 non-target species, and assesses the possibility of adapting catfish SNP arrays to the catfish families of interest. With lowered filtering (e.g., MAF > 0) thresholds, the Affymetrix Axiom 250K and Axiom Catfish 690K Genotyping Array could potentially be used on important market species like African and European catfishes. In the long term, chip development would be the solution for these species, but, until then, cross-application is a viable alternative. Despite low polymorphic SNPs (~1%) and call rates (~0%), this SNP array could aid researchers and breeders, improving catfish aquaculture and management.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12193288/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular-Marker-Based Design for Breeding Indica-Japonica Hybrid Rice with Bacterial Blight Resistance. 基于分子标记的抗白叶枯病籼粳杂交稻选育设计。
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-18 DOI: 10.3390/genes16060719
Junjie Dong, Xinyue Zhang, Youfa Li, Haowei Fu
{"title":"Molecular-Marker-Based Design for Breeding Indica-Japonica Hybrid Rice with Bacterial Blight Resistance.","authors":"Junjie Dong, Xinyue Zhang, Youfa Li, Haowei Fu","doi":"10.3390/genes16060719","DOIUrl":"10.3390/genes16060719","url":null,"abstract":"<p><p><b>Background/Objectives</b>: To overcome the limitations imposed by bacterial blight on widely adopted indica-japonica hybrid rice, this study employed molecular design breeding strategies to develop a resistant germplasm. <b>Methods</b>: Through conventional backcross breeding combined with molecular-marker-assisted selection, the <i>Xa23</i>-carrying material XR39 was hybridized with the wide-compatibility restorer line R5315 harboring the <i>S5n</i> gene. Progeny selection integrated evaluations of agronomic traits, disease resistance identification, and test-crossing with sterile lines. <b>Results:</b> Five wide-compatibility restorer lines simultaneously incorporating the <i>Xa23</i> and <i>S5n</i> genes were successfully developed, demonstrating outstanding bacterial blight resistance and restoration ability. The selected hybrid combinations, A3/RP1, A1/RP4, and A4/RP4, exhibited yield increases of 2.6-8.6% compared to the control. <b>Conclusions</b>: This study not only established a novel germplasm for developing bacterial blight-resistant indica-japonica hybrid rice varieties, but also established a model for gene design breeding for rice improvement.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192601/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Results of Chromosomal Microarray Need to Always Be Checked by (Molecular) Cytogenetics-Even If They Seem to Be Simple Deletions. 染色体微阵列的结果总是需要(分子)细胞遗传学检查-即使他们似乎是简单的缺失。
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-17 DOI: 10.3390/genes16060714
Thomas Liehr, Sylke Singer, Ulrike Mau-Holzmann, Stefanie Kankel, Niklas Padutsch, Luisa Person, Eva Daumiller, Uwe Kornak
{"title":"Results of Chromosomal Microarray Need to Always Be Checked by (Molecular) Cytogenetics-Even If They Seem to Be Simple Deletions.","authors":"Thomas Liehr, Sylke Singer, Ulrike Mau-Holzmann, Stefanie Kankel, Niklas Padutsch, Luisa Person, Eva Daumiller, Uwe Kornak","doi":"10.3390/genes16060714","DOIUrl":"10.3390/genes16060714","url":null,"abstract":"<p><p><b>Background/Objectives:</b> Chromosome microarrays (CMAs) tend to be used as the first line test or as a test that does not require confirmation or verification by a second test. However, to understand the implications of a duplication or deletion for a family seeking genetic counseling, it is crucial to know the nature of the underlying chromosomal rearrangement. Here, we present seven cases with apparent isolated copy number loss, five of which showed unexpected complexity. <b>Methods:</b> Seven cases were investigated by CMA due to intellectual disability and/or dysmorphic features. Isolated deletions ranging in size from ~0.6 to ~21 Mb were found and referred for further characterization of the underlying chromosomal rearrangement. To elucidate the cases, fluorescence in situ hybridization was performed using locus-specific, whole and partial chromosome painting and/or multicolor banding. <b>Results:</b> Among the seven selected cases, there were five with unexpected complexity. Isolated deletions were actually evidence of chromoanasynthesis, ring chromosome formation, unbalanced translocation, or unbalanced insertion. <b>Conclusions:</b> These results clearly underscore that it seems reasonable to examine every case with a copy number variant-even if it appears to be \"only\" a simple partial deletion-using banding and/or molecular cytogenetic testing in order to make a qualified assessment of the situation and, on this basis, ensure sound genetic counseling.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 6","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12192749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","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 Single Nucleotide Substitution T → A rs2072580 Damages the CREB1 Binding Site in the Bidirectional SART3/ISCU Promoter. 单核苷酸取代T→A rs2072580破坏双向SART3/ISCU启动子中CREB1结合位点
IF 2.8 3区 生物学
Genes Pub Date : 2025-06-17 DOI: 10.3390/genes16060713
Arina Degtyareva, Elena Antontseva, Anastasia Evseenko, Konstantin Orishchenko, Tatiana Merkulova
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