首页 > 最新文献

Gene最新文献

英文 中文
The rye photoreceptor ScphyB integrates light signals to control development and architecture in Arabidopsis thaliana. 黑麦光感受器ScphyB整合光信号来控制拟南芥的发育和结构。
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2026-01-14 DOI: 10.1016/j.gene.2026.150009
Mengdan Ning, Yankun Li, Luhao Yang, Yongtao Li, Yirong Yu, Yu Zhang, Yanpei Zhang, Tao Mu, Maciren Ni, Qiang Qin, Shaowei Li, Junxi Wu, Jianping Yang, Yong Shi

As an important food and feed crop, cultivated rye (Secale cereale L.) exhibits excellent resistance to biotic and abiotic stresses, making it a valuable genetic resource for wheat improvement. However, the functions of phytochromes in rye remain poorly characterized. Here, we cloned and characterized PhyB from the Weining rye variety (ScPhyB). The predicted protein contains conserved phytochrome domains-PAS, GAF, PHY, and HATPase-and phylogenetic analysis revealed that ScPhyB is most closely related to wheat TaPhyB, with both belonging to the monocot clade. Promoter analysis identified multiple cis-acting elements related to hormone response, meristem expression, low temperature responsiveness, light response, and MYB binding. Heterologous expression of ScPhyB in Arabidopsis enhanced photomorphogenesis under white light (WL), red light (R), and blue light (B). Furthermore, ScPhyB attenuated shade avoidance responses to 70 % and 90 % of wildtype seedlings measured by hypocotyl length by perceiving high and low R/FR red to far-red (R/FR) light ratio, respectively. ScPhyB also modulated plant architecture and delayed flowering (6-7d) by repressing FT expression. Yeast two-hybrid (Y2H) assays and split-luciferase (LUC) assay confirmed that ScPhyB interacts with both ScPIF3 and ScCOP1, indicating functional conservation within the PIF signaling pathway and the COP1-SPA1 complex. Our findings provide insight into the role of ScPhyB in light signaling and suggest its potential utility for improving crop traits.

作为重要的粮食和饲料作物,栽培黑麦对生物和非生物胁迫表现出优异的抗性,是小麦改良的宝贵遗传资源。然而,对裸麦光敏色素的功能研究尚不充分。本文从威宁黑麦品种(ScPhyB)中克隆并鉴定了PhyB。预测的蛋白含有保守的光敏色素结构域pas、GAF、PHY和hatpase,系统发育分析显示,ScPhyB与小麦的TaPhyB关系最为密切,都属于单子枝分支。启动子分析发现了多个与激素响应、分生组织表达、低温响应、光响应和MYB结合相关的顺式作用元件。在白光(WL)、红光(R)和蓝光(B)下,ScPhyB在拟南芥中的异源表达增强了光形态发生。此外,ScPhyB通过感知高R/FR和低R/FR远红(R/FR)光比,分别减弱了70% %和90% %的野生型幼苗下胚轴长度的避荫反应。ScPhyB还通过抑制FT表达调节植株结构和延迟开花(6-7d)。酵母双杂交(Y2H)实验和分裂荧光素酶(LUC)实验证实,ScPhyB与ScPIF3和ScCOP1相互作用,表明在PIF信号通路和COP1-SPA1复合物中具有功能保守性。我们的研究结果揭示了ScPhyB在光信号传导中的作用,并提出了其在改善作物性状方面的潜在用途。
{"title":"The rye photoreceptor ScphyB integrates light signals to control development and architecture in Arabidopsis thaliana.","authors":"Mengdan Ning, Yankun Li, Luhao Yang, Yongtao Li, Yirong Yu, Yu Zhang, Yanpei Zhang, Tao Mu, Maciren Ni, Qiang Qin, Shaowei Li, Junxi Wu, Jianping Yang, Yong Shi","doi":"10.1016/j.gene.2026.150009","DOIUrl":"https://doi.org/10.1016/j.gene.2026.150009","url":null,"abstract":"<p><p>As an important food and feed crop, cultivated rye (Secale cereale L.) exhibits excellent resistance to biotic and abiotic stresses, making it a valuable genetic resource for wheat improvement. However, the functions of phytochromes in rye remain poorly characterized. Here, we cloned and characterized PhyB from the Weining rye variety (ScPhyB). The predicted protein contains conserved phytochrome domains-PAS, GAF, PHY, and HATPase-and phylogenetic analysis revealed that ScPhyB is most closely related to wheat TaPhyB, with both belonging to the monocot clade. Promoter analysis identified multiple cis-acting elements related to hormone response, meristem expression, low temperature responsiveness, light response, and MYB binding. Heterologous expression of ScPhyB in Arabidopsis enhanced photomorphogenesis under white light (WL), red light (R), and blue light (B). Furthermore, ScPhyB attenuated shade avoidance responses to 70 % and 90 % of wildtype seedlings measured by hypocotyl length by perceiving high and low R/FR red to far-red (R/FR) light ratio, respectively. ScPhyB also modulated plant architecture and delayed flowering (6-7d) by repressing FT expression. Yeast two-hybrid (Y2H) assays and split-luciferase (LUC) assay confirmed that ScPhyB interacts with both ScPIF3 and ScCOP1, indicating functional conservation within the PIF signaling pathway and the COP1-SPA1 complex. Our findings provide insight into the role of ScPhyB in light signaling and suggest its potential utility for improving crop traits.</p>","PeriodicalId":12499,"journal":{"name":"Gene","volume":" ","pages":"150009"},"PeriodicalIF":2.4,"publicationDate":"2026-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145988950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification and functional analysis of biallelic loss-of-function variants of WNT7B in a Chinese family affected with PDAC syndrome 中国PDAC综合征家族WNT7B双等位基因功能缺失变异的鉴定和功能分析
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2026-01-14 DOI: 10.1016/j.gene.2026.150012
Liyan Qiu , Caisheng Xu , Renhua Lu , Shaobin Lin , Fang Yang
WNT7B-related pulmonary hypoplasia, diaphragmatic anomalies, anophthalmia/microphthalmia, and cardiac defects (PDAC) syndrome is rarely reported. To date, only two each nonsense and missense variants of WNT7B were identified in five pedigrees affected with a PDAC spectrum from two independent studies. Additionally, the gene-disease association between WNT7B and PDAC syndrome is not yet clarified in OMIM database. Here, the whole exome sequencing was used to identify biallelic novel loss-of-function (LoF) variants c.324C > G (p.Tyr108*) and c.668_669dup (p.Val224Argfs*6) of WNT7B in a fetus affected with a typical PDAC spectrum, including pulmonary hypoplasia/agenesis, bilateral microphthalmia, and absence of pulmonary arteries and veins, from a Chinese family. Subsequent functional analysis revealed that the two LoF variants decreased the RNA and protein expression levels of WNT7B, and significantly impaired the canonical WNT-β-Catenin signaling pathway, which is essential for regulation of human lung development. We broaden the variant spectrum of WNT7B, and provide genetic and experimental evidence to confirm the association between WNT7B pathogenic variants and PDAC spectrum.
wnt7b相关的肺发育不全、膈异常、眼无/小眼和心脏缺陷(PDAC)综合征很少报道。迄今为止,只有两个无义和错义的WNT7B变体被鉴定在5个家谱受影响的PDAC从两个独立的研究。此外,在OMIM数据库中,WNT7B与PDAC综合征之间的基因-疾病关联尚未明确。本研究利用全外显子组测序技术,鉴定了来自一个中国家庭的WNT7B双等位基因新型功能缺失(LoF)变异c.324C > G (p.Tyr108*)和c.668_669dup (p.Val224Argfs*6),这些变异具有典型的PDAC谱系,包括肺发育不全/发育不全、双侧小眼和肺动脉静脉缺失。随后的功能分析显示,这两个LoF变异降低了WNT7B的RNA和蛋白表达水平,并显著损害了典型的WNT-β-Catenin信号通路,该信号通路是调节人类肺发育所必需的。我们拓宽了WNT7B的变异谱,并提供了遗传和实验证据来证实WNT7B致病变异与PDAC谱之间的关联。
{"title":"Identification and functional analysis of biallelic loss-of-function variants of WNT7B in a Chinese family affected with PDAC syndrome","authors":"Liyan Qiu ,&nbsp;Caisheng Xu ,&nbsp;Renhua Lu ,&nbsp;Shaobin Lin ,&nbsp;Fang Yang","doi":"10.1016/j.gene.2026.150012","DOIUrl":"10.1016/j.gene.2026.150012","url":null,"abstract":"<div><div><em>WNT7B</em>-related pulmonary hypoplasia, diaphragmatic anomalies, anophthalmia/microphthalmia, and cardiac defects (PDAC) syndrome is rarely reported. To date, only two each nonsense and missense variants of <em>WNT7B</em> were identified in five pedigrees affected with a PDAC spectrum from two independent studies. Additionally, the gene-disease association between <em>WNT7B</em> and PDAC syndrome is not yet clarified in OMIM database. Here, the whole exome sequencing was used to identify biallelic novel loss-of-function (LoF) variants c.324C &gt; G (p.Tyr108*) and c.668_669dup (p.Val224Argfs*6) of <em>WNT7B</em> in a fetus affected with a typical PDAC spectrum, including pulmonary hypoplasia/agenesis, bilateral microphthalmia, and absence of pulmonary arteries and veins, from a Chinese family. Subsequent functional analysis revealed that the two LoF variants decreased the RNA and protein expression levels of <em>WNT7B</em>, and significantly impaired the canonical WNT-β-Catenin signaling pathway, which is essential for regulation of human lung development. We broaden the variant spectrum of <em>WNT7B</em>, and provide genetic and experimental evidence to confirm the association between <em>WNT7B</em> pathogenic variants and PDAC spectrum.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"985 ","pages":"Article 150012"},"PeriodicalIF":2.4,"publicationDate":"2026-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145975950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Next-generation sequencing as an applicable method: from technical basis to use in medical diagnosis. 新一代测序作为一种适用方法:从技术基础到医学诊断应用。
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2026-01-08 DOI: 10.1016/j.gene.2026.150002
Arman Moradi, Mina Mousavi, Majid Maleki, Seyedeh Zoha Tabatabaei, Mahshid Malakootian

Next-generation sequencing (NGS) is a high-throughput technology capable of determining the sequence of nucleotides in the genome. Over the past few years, the advent of NGS-based methods has provided timely and economical approaches for diagnosing and screening genetic conditions throughout an individual's lifespan, and prenatal period. Prenatal screening for congenital abnormalities has opened the door to reducing the incidence of genetic disorders. Early detection of genetic diseases using NGS-based methods enables better management of these conditions, thereby improving the quality of life for patients. NGS has also played a pivotal role in pharmacogenetics and drug delivery, facilitating a more personalized approach to medicine. NGS-based methods are increasingly being utilized in genome editing to provide essential information that enhances the precision and effectiveness of editing techniques. This review presents information on how various NGS-based methods function from a technical perspective. Furthermore, we will explore the applications and benefits of these methods in the fields of diagnosis, screening, pharmacogenetics, and genome editing.

下一代测序(NGS)是一种高通量技术,能够确定基因组中的核苷酸序列。在过去的几年中,基于ngs的方法的出现为诊断和筛查整个个体生命周期和产前期间的遗传状况提供了及时和经济的方法。产前筛查先天性异常为减少遗传疾病的发病率打开了大门。使用基于ngs的方法早期发现遗传病,可以更好地管理这些疾病,从而改善患者的生活质量。NGS还在药物遗传学和给药方面发挥了关键作用,促进了更个性化的药物治疗方法。基于ngs的方法越来越多地用于基因组编辑,以提供必要的信息,提高编辑技术的准确性和有效性。这篇综述从技术角度介绍了各种基于ngs的方法如何发挥作用。此外,我们将探讨这些方法在诊断、筛查、药物遗传学和基因组编辑等领域的应用和益处。
{"title":"Next-generation sequencing as an applicable method: from technical basis to use in medical diagnosis.","authors":"Arman Moradi, Mina Mousavi, Majid Maleki, Seyedeh Zoha Tabatabaei, Mahshid Malakootian","doi":"10.1016/j.gene.2026.150002","DOIUrl":"https://doi.org/10.1016/j.gene.2026.150002","url":null,"abstract":"<p><p>Next-generation sequencing (NGS) is a high-throughput technology capable of determining the sequence of nucleotides in the genome. Over the past few years, the advent of NGS-based methods has provided timely and economical approaches for diagnosing and screening genetic conditions throughout an individual's lifespan, and prenatal period. Prenatal screening for congenital abnormalities has opened the door to reducing the incidence of genetic disorders. Early detection of genetic diseases using NGS-based methods enables better management of these conditions, thereby improving the quality of life for patients. NGS has also played a pivotal role in pharmacogenetics and drug delivery, facilitating a more personalized approach to medicine. NGS-based methods are increasingly being utilized in genome editing to provide essential information that enhances the precision and effectiveness of editing techniques. This review presents information on how various NGS-based methods function from a technical perspective. Furthermore, we will explore the applications and benefits of these methods in the fields of diagnosis, screening, pharmacogenetics, and genome editing.</p>","PeriodicalId":12499,"journal":{"name":"Gene","volume":" ","pages":"150002"},"PeriodicalIF":2.4,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145948717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic diversity and genome-wide association mapping for salt stress tolerance in diverse parental lines of hybrid rice 杂交稻不同亲本耐盐性遗传多样性及全基因组关联图谱研究。
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2026-01-08 DOI: 10.1016/j.gene.2026.150003
Md. Ruhul Quddus , M. Akhlasur Rahman , Mehfuz Hasan , Md. Golam Rasul , Md. Abdul Mannan , Md. Jamil Hasan
Salinity, exacerbated by climate change, is a major threat to rice production. Seedling biomass under salt stress is one of the key indicators of salinity tolerance. This is the first study that involved 276 diverse hybrid rice parental lines to analyze GWAS on critical trait seedling biomass under 12 dS/m salt stress. Genetic diversity analysis using UPGMA clustering separated the genotypes into three major and three small distinct groups. Path analysis among 25 traits revealed that root biomass was important determinant for maintaining seedling biomass under salt stress. Genome-wide association analysis (GWAS) for seedling biomass traits under salt stress detected seven significant SNP markers on chromosomes 2, 4, 6, 7, 10, and 11. We report three novel candidate genes associated with seedling biomass maintenance under salt stress: LOC_Os02g55630.1 (chloroplast activity), LOC_Os07g04240.1 (mitochondrial function), and the uncharacterized LOC_Os04g06520.1. In conclusion, a robust root system is vital for seedling biomass retention under salt stress, and identified genetic markers will be useful for the development of salt-resilient hybrid and inbred rice.
气候变化加剧的盐碱化是水稻生产的主要威胁。盐胁迫下幼苗生物量是耐盐性的重要指标之一。本研究首次利用276个不同杂交稻亲本,分析了12 dS/m盐胁迫下幼苗生物量的GWAS变化。遗传多样性分析采用UPGMA聚类法将基因型划分为3个大群和3个小群。25个性状的通径分析表明,根系生物量是盐胁迫下维持幼苗生物量的重要决定因素。对盐胁迫下幼苗生物量性状进行全基因组关联分析(GWAS),在第2、4、6、7、10和11号染色体上检测到7个显著SNP标记。我们报道了三个与盐胁迫下幼苗生物量维持相关的新候选基因:LOC_Os02g55630.1(叶绿体活性)、LOC_Os07g04240.1(线粒体功能)和未鉴定的LOC_Os04g06520.1。综上所述,一个强健的根系对盐胁迫下幼苗生物量的保持至关重要,鉴定出的遗传标记将为耐盐杂交和自交系水稻的培育提供参考。
{"title":"Genetic diversity and genome-wide association mapping for salt stress tolerance in diverse parental lines of hybrid rice","authors":"Md. Ruhul Quddus ,&nbsp;M. Akhlasur Rahman ,&nbsp;Mehfuz Hasan ,&nbsp;Md. Golam Rasul ,&nbsp;Md. Abdul Mannan ,&nbsp;Md. Jamil Hasan","doi":"10.1016/j.gene.2026.150003","DOIUrl":"10.1016/j.gene.2026.150003","url":null,"abstract":"<div><div>Salinity, exacerbated by climate change, is a major threat to rice production. Seedling biomass under salt stress is one of the key indicators of salinity tolerance. This is the first study that involved 276 diverse hybrid rice parental lines to analyze GWAS on critical trait seedling biomass under 12 dS/m salt stress. Genetic diversity analysis using UPGMA clustering separated the genotypes into three major and three small distinct groups. Path analysis among 25 traits revealed that root biomass was important determinant for maintaining seedling biomass under salt stress. Genome-wide association analysis (GWAS) for seedling biomass traits under salt stress detected seven significant SNP markers on chromosomes 2, 4, 6, 7, 10, and 11. We report three novel candidate genes associated with seedling biomass maintenance under salt stress: <em>LOC_Os02g55630.1</em> (chloroplast activity), <em>LOC_Os07g04240.1</em> (mitochondrial function), and the uncharacterized <em>LOC_Os04g06520.1</em>. In conclusion, a robust root system is vital for seedling biomass retention under salt stress, and identified genetic markers will be useful for the development of salt-resilient hybrid and inbred rice.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"984 ","pages":"Article 150003"},"PeriodicalIF":2.4,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145948726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Computational epitope discovery and in silico design of a bispecific antibody model (COMED hook) to block Plasmodium invasion into erythrocytes 阻断疟原虫侵入红细胞的双特异性抗体模型(COMED hook)的计算表位发现和计算机设计
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2026-01-05 DOI: 10.1016/j.gene.2026.149999
Ahmet Efe Köseoğlu , Nadir Gül , Tuğçe Duran , Cenk Öztürk , Nezih Hekim
Malaria remains a major global health threat, with Plasmodium species, especially P. falciparum, increasingly resistant to drugs and vaccines. Novel strategies are needed to address antigenic diversity and the parasite’s intracellular immune evasion. This study aimed to identify conserved and immunogenic B-cell epitopes in P. falciparum and human erythrocytes to design a bispecific antibody model, COMED hook, capable of blocking erythrocyte invasion. Surface and secretory proteins of P. falciparum and erythrocytes were retrieved from public databases. B-cell epitopes were predicted and filtered based on antigenicity, allergenicity, and toxicity. Conservancy was assessed via BLAST. Selected epitopes were structurally modeled, docked to B-cell receptors, and used for antibody design via DiffAb. A total of 123 antigenic P. falciparum B-cell epitopes were identified, with 58 conserved across species. Additionally, 92 non-conserved human erythrocyte B-cell epitopes were discovered, of which 12 were selected as host-targeting domains. Two highly conserved Plasmodium epitopes (KHVETWTQRVQNM, LHSNFYIKRF) were predicted to have favorable Fab binding. Designed antibodies likewise exhibited computationally suggested sequence and docking profiles compatible with COMED hook construction. Overall, this study presents an in silico computational design framework for a bispecific antibody model targeting both Plasmodium and host erythrocytes, generating testable predictions for future work. The predicted interactions and the proposed COMED hook concept will require experimental validation to assess biological feasibility.
疟疾仍然是一个主要的全球健康威胁,各种疟原虫,特别是恶性疟原虫,对药物和疫苗的耐药性日益增强。需要新的策略来解决抗原多样性和寄生虫的细胞内免疫逃避。本研究旨在鉴定恶性疟原虫和人红细胞中保守的免疫原性b细胞表位,设计一种能够阻断红细胞侵袭的双特异性抗体模型COMED hook。从公共数据库中检索恶性疟原虫和红细胞的表面和分泌蛋白。根据抗原性、过敏原性和毒性对b细胞表位进行预测和筛选。通过BLAST对保护进行评估。选择的表位进行结构建模,与b细胞受体对接,并通过DiffAb进行抗体设计。共鉴定出123个抗原恶性疟原虫b细胞表位,其中58个在物种间保守。此外,还发现了92个非保守的人红细胞b细胞表位,其中12个被选为宿主靶向结构域。两个高度保守的疟原虫表位(KHVETWTQRVQNM, LHSNFYIKRF)预计具有有利的Fab结合。设计的抗体同样显示出计算建议的序列和对接轮廓,与COMED钩子结构兼容。总的来说,这项研究提出了一个针对疟原虫和宿主红细胞的双特异性抗体模型的计算机计算设计框架,为未来的工作产生了可测试的预测。预测的相互作用和提出的COMED钩子概念将需要实验验证来评估生物学可行性。
{"title":"Computational epitope discovery and in silico design of a bispecific antibody model (COMED hook) to block Plasmodium invasion into erythrocytes","authors":"Ahmet Efe Köseoğlu ,&nbsp;Nadir Gül ,&nbsp;Tuğçe Duran ,&nbsp;Cenk Öztürk ,&nbsp;Nezih Hekim","doi":"10.1016/j.gene.2026.149999","DOIUrl":"10.1016/j.gene.2026.149999","url":null,"abstract":"<div><div>Malaria remains a major global health threat, with <em>Plasmodium</em> species, especially <em>P. falciparum</em>, increasingly resistant to drugs and vaccines. Novel strategies are needed to address antigenic diversity and the parasite’s intracellular immune evasion. This study aimed to identify conserved and immunogenic B-cell epitopes in <em>P. falciparum</em> and human erythrocytes to design a bispecific antibody model, COMED hook, capable of blocking erythrocyte invasion. Surface and secretory proteins of <em>P. falciparum</em> and erythrocytes were retrieved from public databases. B-cell epitopes were predicted and filtered based on antigenicity, allergenicity, and toxicity. Conservancy was assessed via BLAST. Selected epitopes were structurally modeled, docked to B-cell receptors, and used for antibody design via DiffAb. A total of 123 antigenic <em>P. falciparum</em> B-cell epitopes were identified, with 58 conserved across species. Additionally, 92 non-conserved human erythrocyte B-cell epitopes were discovered, of which 12 were selected as host-targeting domains. Two highly conserved <em>Plasmodium</em> epitopes (KHVETWTQRVQNM, LHSNFYIKRF) were predicted to have favorable Fab binding. Designed antibodies likewise exhibited computationally suggested sequence and docking profiles compatible with COMED hook construction. Overall, this study presents an <em>in silico</em> computational design framework for a bispecific antibody model targeting both <em>Plasmodium</em> and host erythrocytes, generating testable predictions for future work. The predicted interactions and the proposed COMED hook concept will require experimental validation to assess biological feasibility.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"984 ","pages":"Article 149999"},"PeriodicalIF":2.4,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145908830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
cGAS-STING activation in Parkinson's Disease: From mechanisms to Disease-Modifying therapeutic strategies. cGAS-STING在帕金森病中的激活:从机制到疾病改善治疗策略
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2026-01-05 DOI: 10.1016/j.gene.2026.150000
Jemimol Solomon, Snehashis Mandal, Khadga Raj Aran

Parkinson's disease (PD) is a progressive degenerative neuronal disorder that involves the selective loss of dopaminergic neurons in the substantia nigra, resulting in severe motor and non-motor impairments. Key pathological hallmarks include the accumulation of misfolded α-synuclein and mitochondrial dysfunction. Emerging evidence indicates that innate immune signalling, particularly the cGAS-STING pathway, contributes to PD pathogenesis. It acts as a cytosolic DNA sensor; cGAS can recognise genomic instability or mitochondrial damage by generating an IFN-I response through STING activation. Persistent stimulation of the cGAS-STING pathway in microglia promotes chronic neuroinflammation and contributes to dopaminergic neuronal loss. Mitochondrial dysfunction, impaired DNA repair, and α-Synuclein aggregation may converge to sustain pathway activation, establishing a self-reinforcing cycle of inflammation and neurodegeneration. Understanding the interaction of cGAS-STING signalling, mitochondrial integrity, and protein aggregation offers important mechanistic insights into PD pathology. It suggests meaningful targets for disease-modifying therapeutic approaches for PD that address neuroinflammation and neuronal survival.

帕金森病(PD)是一种进行性退行性神经元疾病,涉及黑质多巴胺能神经元的选择性丧失,导致严重的运动和非运动损伤。关键的病理标志包括α-突触核蛋白错误折叠的积累和线粒体功能障碍。新出现的证据表明,先天免疫信号,特别是cGAS-STING通路,参与PD的发病机制。它充当细胞质DNA传感器;cGAS可以通过STING激活产生IFN-I反应来识别基因组不稳定或线粒体损伤。持续刺激小胶质细胞中的cGAS-STING通路可促进慢性神经炎症并导致多巴胺能神经元丢失。线粒体功能障碍、DNA修复受损和α-突触核蛋白聚集可能会聚在一起维持通路激活,建立炎症和神经变性的自我强化循环。了解cGAS-STING信号传导、线粒体完整性和蛋白质聚集的相互作用,为帕金森病的病理机制提供了重要的见解。这为PD的疾病改善治疗方法提供了有意义的靶点,可以解决神经炎症和神经元存活问题。
{"title":"cGAS-STING activation in Parkinson's Disease: From mechanisms to Disease-Modifying therapeutic strategies.","authors":"Jemimol Solomon, Snehashis Mandal, Khadga Raj Aran","doi":"10.1016/j.gene.2026.150000","DOIUrl":"https://doi.org/10.1016/j.gene.2026.150000","url":null,"abstract":"<p><p>Parkinson's disease (PD) is a progressive degenerative neuronal disorder that involves the selective loss of dopaminergic neurons in the substantia nigra, resulting in severe motor and non-motor impairments. Key pathological hallmarks include the accumulation of misfolded α-synuclein and mitochondrial dysfunction. Emerging evidence indicates that innate immune signalling, particularly the cGAS-STING pathway, contributes to PD pathogenesis. It acts as a cytosolic DNA sensor; cGAS can recognise genomic instability or mitochondrial damage by generating an IFN-I response through STING activation. Persistent stimulation of the cGAS-STING pathway in microglia promotes chronic neuroinflammation and contributes to dopaminergic neuronal loss. Mitochondrial dysfunction, impaired DNA repair, and α-Synuclein aggregation may converge to sustain pathway activation, establishing a self-reinforcing cycle of inflammation and neurodegeneration. Understanding the interaction of cGAS-STING signalling, mitochondrial integrity, and protein aggregation offers important mechanistic insights into PD pathology. It suggests meaningful targets for disease-modifying therapeutic approaches for PD that address neuroinflammation and neuronal survival.</p>","PeriodicalId":12499,"journal":{"name":"Gene","volume":" ","pages":"150000"},"PeriodicalIF":2.4,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145917539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson’s disease 没有证据表明LRRK2 p.L1795F变异在意大利南部帕金森病患者中存在。
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2026-01-05 DOI: 10.1016/j.gene.2026.150001
Monica Gagliardi , Radha Procopio , Alessia Felicetti , Andrea Quattrone , Gennarina Arabia , Maurizio Morelli , Antonio Gambardella , Grazia Annesi , Aldo Quattrone

Background

Pathogenic variants in the LRRK2 gene are among the most common genetic causes of autosomal dominant Parkinson’s disease (PD). A recent study provided strong genetic and functional evidence supporting the pathogenicity of the rare missense variant p.L1795F (c.5385G > T), identified exclusively in individuals of European ancestry. However, its prevalence in Southern European populations remains unknown.

Objective

The aim of the study was to evaluate the frequency of the p.L1795F variant in a cohort of PD patients from Southern Italy.

Methods

We screened 300 unrelated PD patients using Sanger sequencing to detect the presence of the p.L1795F (c.5385G > T) variant in the LRRK2 gene.

Results

No carriers of the p.L1795F variant were identified in our Southern Italian cohort.

Conclusion

These findings suggest that the p.L1795F variant may have very low or undetectable frequency in the Southern Italian population. Our results highlight the importance of including underrepresented geographic regions in genetic screening efforts for PD to better understand the population-specific distribution of pathogenic variants.
背景:LRRK2基因的致病性变异是常染色体显性帕金森病(PD)最常见的遗传原因之一。最近的一项研究提供了强有力的遗传和功能证据,支持罕见的错义变异p.L1795F (c.5385G > T)的致病性,该变异仅在欧洲血统的个体中发现。然而,其在南欧人群中的流行程度尚不清楚。目的:该研究的目的是评估p.L1795F变异在意大利南部PD患者队列中的频率。方法:我们使用Sanger测序技术筛选了300名不相关的PD患者,检测LRRK2基因中p.L1795F (c.5385G > T)变体的存在。结果:在我们的意大利南部队列中未发现p.L1795F变异携带者。结论:这些发现表明p.L1795F变异在意大利南部人群中的频率可能非常低或无法检测到。我们的研究结果强调了将代表性不足的地理区域纳入PD遗传筛查工作的重要性,以更好地了解致病变异的人群特异性分布。
{"title":"No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson’s disease","authors":"Monica Gagliardi ,&nbsp;Radha Procopio ,&nbsp;Alessia Felicetti ,&nbsp;Andrea Quattrone ,&nbsp;Gennarina Arabia ,&nbsp;Maurizio Morelli ,&nbsp;Antonio Gambardella ,&nbsp;Grazia Annesi ,&nbsp;Aldo Quattrone","doi":"10.1016/j.gene.2026.150001","DOIUrl":"10.1016/j.gene.2026.150001","url":null,"abstract":"<div><h3>Background</h3><div>Pathogenic variants in the <em>LRRK2</em> gene are among the most common genetic causes of autosomal dominant Parkinson’s disease (PD). A recent study provided strong genetic and functional evidence supporting the pathogenicity of the rare missense variant p.L1795F (c.5385G &gt; T), identified exclusively in individuals of European ancestry. However, its prevalence in Southern European populations remains unknown.</div></div><div><h3>Objective</h3><div>The aim of the study was to evaluate the frequency of the p.L1795F variant in a cohort of PD patients from Southern Italy.</div></div><div><h3>Methods</h3><div>We screened 300 unrelated PD patients using Sanger sequencing to detect the presence of the p.L1795F (c.5385G &gt; T) variant in the <em>LRRK2</em> gene.</div></div><div><h3>Results</h3><div>No carriers of the p.L1795F variant were identified in our Southern Italian cohort.</div></div><div><h3>Conclusion</h3><div>These findings suggest that the p.L1795F variant may have very low or undetectable frequency in the Southern Italian population. Our results highlight the importance of including underrepresented geographic regions in genetic screening efforts for PD to better understand the population-specific distribution of pathogenic variants.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"984 ","pages":"Article 150001"},"PeriodicalIF":2.4,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145916451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Revealing the dual mechanisms of Wuwei Wentong Chubi Capsule in alleviating rheumatoid arthritis: synergistic anti-inflammatory and anti-coagulant effects 揭示五味温通除痹胶囊缓解类风湿关节炎的双重机制:协同抗炎和抗凝血作用。
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-31 DOI: 10.1016/j.gene.2025.149991
Fanfan Wang , Jian Liu , Yanyan Fang , Yang Li , Xueni Cheng , Shengfeng Liu

Background

Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by synovial hyperplasia and multi-organ damage. While existing therapies alleviate symptoms, they are accompanied by significant adverse effects. Fibroblast-like synoviocytes (FLS) drive RA progression through inflammation-coagulation interactions, necessitating safer multitarget drugs. Jianpi Wenyang Tongluo Prescription-Wuwei Wentong Chubi Capsule (WWT), a traditional Chinese medicine formula targeting the “cold-dampness obstruction syndrome” in RA, has demonstrated clinical efficacy, yet its mechanism remains unclear.

Aim of the study

To investigate the therapeutic effects of WWT on adjuvant-induced arthritis (AA) rats with cold-dampness syndrome and explore its underlying mechanisms in regulating inflammation-coagulation balance and organ protection.

Materials and methods

AA rats with cold-dampness syndrome were established using Freund’s complete adjuvant (FCA) and a climate chamber, and treated with WWT (low/medium/high doses). Synovial pathology, organ function, inflammatory, and coagulation parameters were evaluated. Molecular docking, protein–protein interaction (PPI) networks, and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis were employed to identify key targets, with Western blot (WB) and immunofluorescence used to validate JAK2/STAT3 pathway activation. A coculture model of peripheral blood mononuclear cells (PBMCs) and FLS from RA patients was constructed for in vitro validation.

Results

In AA rats, WWT dose-dependently decreased pro-inflammatory cytokines (IL-6, IL-17) and pro-coagulant factors (PAF, FDP), while increasing anti-inflammatory cytokine IL-10 and anticoagulant factor PGI2 (P < 0.01). WWT reversed synovial mitochondrial vacuolation and protected liver and kidney function. Bioinformatics analysis and molecular docking revealed JAK2/STAT3 as the core target, with wogonin and icariin stably binding to JAK2 (ΔG = -8.2/-7.7 kcal/mol) and STAT3 (ΔG = -7.9/-9.9 kcal/mol). WWT rescued inflammation and hypercoagulation induced by the JAK2/STAT3 activator coumermycin A1. In vitro, WWT-containing serum inhibited the proliferation of cocultured RA-PBMCs and FLS and the secretion of pro-inflammatory and pro-coagulant factors by blocking JAK2/STAT3 and STAT3 nuclear translocation.

Conclusions

WWT alleviates RA progression by restoring inflammation-coagulation balance and protecting multi-organ function through inhibition of the JAK2/STAT3 pathway. This study integrates traditional Chinese medicine theory with molecular pathological mechanisms, providing a scientific basis for WWT as a multitarget therapeutic for RA.
背景:类风湿性关节炎(RA)是一种以滑膜增生和多器官损害为特征的慢性自身免疫性疾病。虽然现有的治疗方法减轻了症状,但它们伴随着显著的不良反应。纤维母细胞样滑膜细胞(FLS)通过炎症-凝血相互作用驱动RA进展,需要更安全的多靶点药物。健脾温阳通络方-武味温通除痹胶囊是一种治疗类风湿痹证的中药方剂,临床疗效较好,但其作用机制尚不清楚。研究目的:观察水灵汤对佐剂性关节炎(AA)大鼠寒湿证的治疗作用,并探讨其调节炎症-凝血平衡和器官保护的机制。材料和方法:采用弗氏完全佐剂(FCA)和气候室建立寒湿证AA大鼠,并给予低/中/高剂量WWT治疗。评估滑膜病理、器官功能、炎症和凝血参数。利用分子对接、蛋白-蛋白相互作用(PPI)网络和京都基因与基因组百科全书(KEGG)富集分析确定关键靶点,利用Western blot (WB)和免疫荧光验证JAK2/STAT3通路的激活。建立RA患者外周血单个核细胞(PBMCs)与FLS共培养模型进行体外验证。结果:在AA大鼠中,WWT剂量依赖性地降低了促炎因子(IL-6、IL-17)和促凝因子(PAF、FDP),同时增加了抗炎因子IL-10和抗凝因子PGI2 (P )。结论:WWT通过抑制JAK2/STAT3通路,恢复了炎症-凝平衡,保护了多器官功能,从而减轻了RA的进展。本研究将中医理论与分子病理机制相结合,为WWT多靶点治疗类风湿性关节炎提供科学依据。
{"title":"Revealing the dual mechanisms of Wuwei Wentong Chubi Capsule in alleviating rheumatoid arthritis: synergistic anti-inflammatory and anti-coagulant effects","authors":"Fanfan Wang ,&nbsp;Jian Liu ,&nbsp;Yanyan Fang ,&nbsp;Yang Li ,&nbsp;Xueni Cheng ,&nbsp;Shengfeng Liu","doi":"10.1016/j.gene.2025.149991","DOIUrl":"10.1016/j.gene.2025.149991","url":null,"abstract":"<div><h3>Background</h3><div>Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by synovial hyperplasia and multi-organ damage. While existing therapies alleviate symptoms, they are accompanied by significant adverse effects. Fibroblast-like synoviocytes (FLS) drive RA progression through inflammation-coagulation interactions, necessitating safer multitarget drugs. Jianpi Wenyang Tongluo Prescription-Wuwei Wentong Chubi Capsule (WWT), a traditional Chinese medicine formula targeting the “cold-dampness obstruction syndrome” in RA, has demonstrated clinical efficacy, yet its mechanism remains unclear.</div></div><div><h3>Aim of the study</h3><div>To investigate the therapeutic effects of WWT on adjuvant-induced arthritis (AA) rats with cold-dampness syndrome and explore its underlying mechanisms in regulating inflammation-coagulation balance and organ protection.</div></div><div><h3>Materials and methods</h3><div>AA rats with cold-dampness syndrome were established using Freund’s complete adjuvant (FCA) and a climate chamber, and treated with WWT (low/medium/high doses). Synovial pathology, organ function, inflammatory, and coagulation parameters were evaluated. Molecular docking, protein–protein interaction (PPI) networks, and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis were employed to identify key targets, with Western blot (WB) and immunofluorescence used to validate JAK2/STAT3 pathway activation. A coculture model of peripheral blood mononuclear cells (PBMCs) and FLS from RA patients was constructed for in vitro validation.</div></div><div><h3>Results</h3><div>In AA rats, WWT dose-dependently decreased pro-inflammatory cytokines (IL-6, IL-17) and pro-coagulant factors (PAF, FDP), while increasing anti-inflammatory cytokine IL-10 and anticoagulant factor PGI2 (P &lt; 0.01). WWT reversed synovial mitochondrial vacuolation and protected liver and kidney function. Bioinformatics analysis and molecular docking revealed JAK2/STAT3 as the core target, with wogonin and icariin stably binding to JAK2 (ΔG = -8.2/-7.7 kcal/mol) and STAT3 (ΔG = -7.9/-9.9 kcal/mol). WWT rescued inflammation and hypercoagulation induced by the JAK2/STAT3 activator coumermycin A1. In vitro, WWT-containing serum inhibited the proliferation of cocultured RA-PBMCs and FLS and the secretion of pro-inflammatory and pro-coagulant factors by blocking JAK2/STAT3 and STAT3 nuclear translocation.</div></div><div><h3>Conclusions</h3><div>WWT alleviates RA progression by restoring inflammation-coagulation balance and protecting multi-organ function through inhibition of the JAK2/STAT3 pathway. This study integrates traditional Chinese medicine theory with molecular pathological mechanisms, providing a scientific basis for WWT as a multitarget therapeutic for RA.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"983 ","pages":"Article 149991"},"PeriodicalIF":2.4,"publicationDate":"2025-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145892233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deubiquitinating enzymes in endometrial cancer and cervical cancer 去泛素酶在子宫内膜癌和宫颈癌中的作用。
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-30 DOI: 10.1016/j.gene.2025.149988
Chenlu Tang, Xiaofeng Jin
Endometrial cancer (EC) is one of the three most common malignancies of the female reproductive system, with its global incidence and disease-related mortality continuing to rise. Cervical cancer (CC), also known as uterine cervical cancer, refers to cancer occurring in the cervix. Despite the development of various therapeutic strategies, patient prognosis and survival rates remain poor due to high rates of metastasis and recurrence. Ubiquitination denotes the process by which ubiquitin is covalently attached to target proteins, while deubiquitinases (DUBs) catalyze the reverse process. Accumulating evidence indicates that dysregulation of deubiquitination plays significant roles in the pathogenesis and progression of both EC and CC. This review systematically summarizes recent research advances in DUBs, outlining their intrinsic characteristics, classification, catalytic mechanisms, and modes of activity regulation. Furthermore, it explores the potential mechanisms by which DUB dysregulation contributes to endometrial and cervical carcinogenesis. Additionally, we present the successful application of DUB inhibitors in the treatment of malignancies and provide an analysis of the current research status regarding targeted therapies for EC and CC.
子宫内膜癌(EC)是女性生殖系统最常见的三种恶性肿瘤之一,其全球发病率和与疾病相关的死亡率持续上升。宫颈癌(CC),也称为子宫癌,是指发生在子宫颈的癌症。尽管发展了各种治疗策略,但由于转移和复发率高,患者预后和生存率仍然很差。泛素化是指泛素与靶蛋白共价结合的过程,而去泛素酶(DUBs)则催化相反的过程。越来越多的证据表明,去泛素化失调在EC和CC的发病和发展中都起着重要的作用。本文系统地综述了DUBs的研究进展,概述了它们的内在特征、分类、催化机制和活性调节模式。此外,它还探讨了DUB失调导致子宫内膜癌和宫颈癌发生的潜在机制。此外,我们介绍了DUB抑制剂在恶性肿瘤治疗中的成功应用,并分析了目前针对EC和CC的靶向治疗的研究现状。
{"title":"Deubiquitinating enzymes in endometrial cancer and cervical cancer","authors":"Chenlu Tang,&nbsp;Xiaofeng Jin","doi":"10.1016/j.gene.2025.149988","DOIUrl":"10.1016/j.gene.2025.149988","url":null,"abstract":"<div><div>Endometrial cancer (EC) is one of the three most common malignancies of the female reproductive system, with its global incidence and disease-related mortality continuing to rise. Cervical cancer (CC), also known as uterine cervical cancer, refers to cancer occurring in the cervix. Despite the development of various therapeutic strategies, patient prognosis and survival rates remain poor due to high rates of metastasis and recurrence. Ubiquitination denotes the process by which ubiquitin is covalently attached to target proteins, while deubiquitinases (DUBs) catalyze the reverse process. Accumulating evidence indicates that dysregulation of deubiquitination plays significant roles in the pathogenesis and progression of both EC and CC. This review systematically summarizes recent research advances in DUBs, outlining their intrinsic characteristics, classification, catalytic mechanisms, and modes of activity regulation. Furthermore, it explores the potential mechanisms by which DUB dysregulation contributes to endometrial and cervical carcinogenesis. Additionally, we present the successful application of DUB inhibitors in the treatment of malignancies and provide an analysis of the current research status regarding targeted therapies for EC and CC.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"983 ","pages":"Article 149988"},"PeriodicalIF":2.4,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145888947","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The R2R3-MYB transcription factor GhMYB35 governs anther development and pollen viability in upland cotton R2R3-MYB转录因子GhMYB35控制着陆地棉的花药发育和花粉活力。
IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Pub Date : 2025-12-30 DOI: 10.1016/j.gene.2025.149990
Qiyue Ma , Ningna Wang , Kaikai Qiao , Kun Luo , Chenglong Zhao , Jiaxuan Yan , Shuli Fan , Junkang Rong , Qifeng Ma
Male reproductive development is fundamental to the life cycle of flowering plants, culminating in seed production. Aberrations in anther development frequently lead to male sterility, yet the underlying molecular mechanisms in upland cotton (Gossypium hirsutum) remain largely uncharacterized. The R2R3-MYB family of transcription factors are known key regulators of diverse developmental processes, including male fertility in several model species. Here, we identify and functionally characterize GhMYB35, an R2R3-MYB transcription factor that plays an essential role in cotton anther development. CRISPR/Cas9-mediated knockout of GhMYB35 resulted in complete male sterility, with mutants (ghmyb35) exhibiting indehiscent anthers, shorter filaments, and a total absence of viable pollen. Expression analyses reveal that GhMYB35 is predominantly expressed in anthers, with peak expression of its A- and D-subgenome homoeologs occurring at developmental stage 7. Subcellular localization results show that both GhMYB35_A and GhMYB35_D are nuclear-localized transcription factors. Furthermore, the total absence of GhMYB35 leads to pollen abortion and subsequent anther collapse without dehiscence. Collectively, our findings establish GhMYB35 as a critical regulator of anther maturation, thereby elucidating a key component of the molecular network governing male fertility in cotton.
雄性生殖发育是开花植物生命周期的基础,在种子生产中达到高潮。花药发育的异常经常导致雄性不育,然而陆地棉(棉)潜在的分子机制在很大程度上仍然不清楚。已知R2R3-MYB转录因子家族是多种发育过程的关键调节因子,包括几种模式物种的雄性生殖能力。在此,我们鉴定并功能表征了在棉花花药发育中起重要作用的R2R3-MYB转录因子GhMYB35。CRISPR/ cas9介导的敲除GhMYB35导致雄性完全不育,突变体(GhMYB35)花药不开裂,花丝较短,完全没有活花粉。表达分析表明,GhMYB35主要在花药中表达,其A和d亚基因组同源物在发育第7阶段达到表达高峰。亚细胞定位结果显示,ghmyb35_a&ghmyb35_dare均为核定位转录因子。此外,GhMYB35基因的完全缺失导致花粉败育和随后的花药塌陷而不开裂。总之,我们的研究结果确定GhMYB35是花药成熟的关键调节因子,从而阐明了控制棉花雄性生育力的分子网络的关键组成部分。
{"title":"The R2R3-MYB transcription factor GhMYB35 governs anther development and pollen viability in upland cotton","authors":"Qiyue Ma ,&nbsp;Ningna Wang ,&nbsp;Kaikai Qiao ,&nbsp;Kun Luo ,&nbsp;Chenglong Zhao ,&nbsp;Jiaxuan Yan ,&nbsp;Shuli Fan ,&nbsp;Junkang Rong ,&nbsp;Qifeng Ma","doi":"10.1016/j.gene.2025.149990","DOIUrl":"10.1016/j.gene.2025.149990","url":null,"abstract":"<div><div>Male reproductive development is fundamental to the life cycle of flowering plants, culminating in seed production. Aberrations in anther development frequently lead to male sterility, yet the underlying molecular mechanisms in upland cotton (<em>Gossypium hirsutum</em>) remain largely uncharacterized. The R2R3-MYB family of transcription factors are known key regulators of diverse developmental processes, including male fertility in several model species. Here, we identify and functionally characterize <em>GhMYB35</em>, an R2R3-MYB transcription factor that plays an essential role in cotton anther development. CRISPR/Cas9-mediated knockout of <em>GhMYB35</em> resulted in complete male sterility, with mutants (<em>ghmyb35</em>) exhibiting indehiscent anthers, shorter filaments, and a total absence of viable pollen. Expression analyses reveal that <em>GhMYB35</em> is predominantly expressed in anthers, with peak expression of its A- and D-subgenome homoeologs occurring at developmental stage 7. Subcellular localization results show that both<!--> <em>GhMYB35_A</em> <!-->and<!--> <em>GhMYB35_D</em> <!-->are nuclear-localized transcription factors. Furthermore, the total absence of GhMYB35 leads to pollen abortion and subsequent anther collapse without dehiscence. Collectively, our findings establish <em>GhMYB35</em> as a critical regulator of anther maturation, thereby elucidating a key component of the molecular network governing male fertility in cotton.</div></div>","PeriodicalId":12499,"journal":{"name":"Gene","volume":"984 ","pages":"Article 149990"},"PeriodicalIF":2.4,"publicationDate":"2025-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145889022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Gene
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1