Journal of Genetics and Genomics最新文献_第5页

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review. 肌萎缩性侧索硬化症的遗传结构：一个全面的回顾。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-28 DOI: 10.1016/j.jgg.2025.05.008

Lamei Yuan, Yuewen Yang, Yi Guo, Hao Deng

{"title":"Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.","authors":"Lamei Yuan, Yuewen Yang, Yi Guo, Hao Deng","doi":"10.1016/j.jgg.2025.05.008","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.05.008","url":null,"abstract":"Amyotrophic lateral sclerosis (ALS), one of the most prevalent neurodegenerative disorders, is pathologically characterized by the progressive degeneration of both upper and lower motor neurons, leading to muscle weakness, paralysis, and death within 2-4 years post-diagnosis. ALS is categorized into familial ALS (FALS) and sporadic ALS, with FALS accounting for approximately 10% of ALS cases. As a genetically heterogeneous disease, ALS exhibits diverse inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked transmission, and genetic factors play pivotal roles in disease pathogenesis. To date, at least 34 disease-causing loci and 32 genes for ALS have been identified. The investigations of mutant protein products and the establishment of animal models have unraveled potential pathogenic pathways, offering insights into the mechanisms of neurodegeneration in ALS. This review focuses on ALS clinical characteristics, neuropathological features, causative loci/genes, genetic susceptibility factors, animal models, and pathogenic mechanisms, with particular attention to recent advances in genetic findings and pathogenic pathways of ALS. Elucidation of the genetic basis of ALS could provide the scientific foundation for personalized treatments to address this recalcitrant disease.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144188492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Xgr is involved in body size control in Drosophila through promoting glucose uptake in the Malpighian tubules. Xgr通过促进马氏小管的葡萄糖摄取参与果蝇的体型控制。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-27 DOI: 10.1016/j.jgg.2025.05.007

Zhiwei Lin, Zihao He, Jianfeng Guo, Xiaofang Ji, Ze Hu, Yingsen Tang, Chuanxian Wei, Jiyong Liu, Wenqi Wu, Jun Ma, Renjie Jiao

{"title":"Xgr is involved in body size control in Drosophila through promoting glucose uptake in the Malpighian tubules.","authors":"Zhiwei Lin, Zihao He, Jianfeng Guo, Xiaofang Ji, Ze Hu, Yingsen Tang, Chuanxian Wei, Jiyong Liu, Wenqi Wu, Jun Ma, Renjie Jiao","doi":"10.1016/j.jgg.2025.05.007","DOIUrl":"10.1016/j.jgg.2025.05.007","url":null,"abstract":"Body size control is fundamental to development and requires proper energy engagement. One of the key energy sensing factors is AMP-activated protein kinase (AMPK), which regulates glucose uptake to ensure ATP production and nutrition supply during development. Here, we identify that the mutation of xgr, a gene encoding an ATPase, results in a reduced body size in Drosophila. Xgr is primarily expressed in the epithelial cells of the Malpighian tubules and the midguts. Loss of xgr leads to the inactivation of the AMPK signaling due to an increased ATP level. Glucose reabsorption in the Malpighian tubules is significantly reduced, as the Glut1 translocation to the plasma membrane is significantly disrupted in the absence of Xgr function. Our results suggest that Xgr function in the Malpighian tubules is essential to systemic glucose supply and energy homeostasis at the organismal level, thereby impacting body size. Our findings provide a mechanistic connection between energy homeostasis and animal size control during development.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144182910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

ADGAP: A user-friendly online ancient DNA database and genome analysis platform. ADGAP：一个用户友好的在线古代DNA数据库和基因组分析平台。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-16 DOI: 10.1016/j.jgg.2025.05.006

Yanwei Chen, Yu Xu, Kongyang Zhu, Chuan-Chao Wang

引用次数: 0

Decoding the complexity of coding and non-coding RNAs across maize anther development at the isoform level. 在同工异构体水平上解码玉米花药发育过程中编码和非编码rna的复杂性。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-16 DOI: 10.1016/j.jgg.2025.05.005

Ge Yan, Xuxu Ma, Wei Huang, Chunyu Wang, Yingjia Han, Shufang Wang, Han Liu, Mei Zhang

{"title":"Decoding the complexity of coding and non-coding RNAs across maize anther development at the isoform level.","authors":"Ge Yan, Xuxu Ma, Wei Huang, Chunyu Wang, Yingjia Han, Shufang Wang, Han Liu, Mei Zhang","doi":"10.1016/j.jgg.2025.05.005","DOIUrl":"10.1016/j.jgg.2025.05.005","url":null,"abstract":"Anther is a key male reproductive organ that is essential for the plant life cycle, from the sporophyte to the gametophyte generation. To explore the isoform-level transcriptional landscape of developing anthers in maize (Zea mays L.), we analyzed Iso-Seq data from anthers collected at 10 developmental stages, together with strand-specific RNA-seq, CAGE-seq, and PAS-seq data. Of the 152,026 high-confidence full-length isoforms identified, 68.8% have not been described; these include 22,365 isoforms that originate from previously unannotated loci and 82,167 novel isoforms that originate from annotated protein-coding genes. Using our newly developed strategy to detect dynamic expression patterns of isoforms, we identified 13,899 differentially variable regions (DVRs); surprisingly, 1275 genes contain more than two DVRs, revealing highly efficient utilization of limited genic regions. We identified 7876 long non-coding RNAs (lncRNAs) from 4098 loci, most of which were preferentially expressed during cell differentiation and meiosis. We also detected 371 long-range interactions involving intergenic lncRNAs (lincRNAs); interestingly, 243 were lincRNA-gene ones, and the interacting genes were highly expressed in anthers, suggesting that many potential lncRNA regulators of key genes are required for anther development. This study provides valuable resources and fundamental information for studying the essential transcripts of key genes during anther development.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Two-pore-domain potassium channel Sandman regulates intestinal stem cell homeostasis and tumorigenesis in Drosophila melanogaster. 双孔结构域钾通道Sandman调控黑腹果蝇肠道干细胞稳态和肿瘤发生。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-15 DOI: 10.1016/j.jgg.2025.05.003

Chen Zheng, Jiadong Zheng, Xin Wang, Yue Zhang, Xianjue Ma, Li He

{"title":"Two-pore-domain potassium channel Sandman regulates intestinal stem cell homeostasis and tumorigenesis in Drosophila melanogaster.","authors":"Chen Zheng, Jiadong Zheng, Xin Wang, Yue Zhang, Xianjue Ma, Li He","doi":"10.1016/j.jgg.2025.05.003","DOIUrl":"10.1016/j.jgg.2025.05.003","url":null,"abstract":"Potassium channels regulate diverse biological processes, ranging from cell proliferation to immune responses. However, the functions of potassium homeostasis and its regulatory mechanisms in adult stem cells and tumors remain poorly characterized. Here, we identify Sandman (Sand), a two-pore-domain potassium channel in Drosophilamelanogaster, as an essential regulator for the proliferation of intestinal stem cells and malignant tumors, while dispensable for the normal development processes. Mechanistically, loss of sand elevates intracellular K+ concentration, leading to growth inhibition. This phenotype is rescued by pharmacological reduction of intracellular K+ levels using the K+ ionophore. Conversely, overexpression of sand triggers stem cell death in most regions of the midgut, inhibits tumor growth, and induces a Notch loss-of-function phenotype in the posterior midgut. These effects are mediated predominantly via the induction of endoplasmic reticulum (ER) stress, as demonstrated by the complete rescue of phenotypes through the co-expression of Ire1 or Xbp1s. Additionally, human homologues of Sand demonstrated similar ER stress-inducing capabilities, suggesting an evolutionarily conserved relationship between this channel and ER stress. Together, our findings identify Sand as a shared regulatory node that governs Drosophila adult stem cell dynamics and tumorigenesis through bioelectric homeostasis, and reveal a link between the two-pore potassium channel and ER stress signaling.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

A gap-free and haplotype-resolved genome of an early-season indica variety provides insights into rice thermotolerance and grain quality. 一个早季籼稻品种的无间隙和单倍型解决基因组提供了水稻耐热性和籽粒品质的见解。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-15 DOI: 10.1016/j.jgg.2025.04.020

Wenjing Tao, Leilei Qiu, Jingsheng Zheng, Liangrong Jiang, Qiwen Xu, Shaowei Xu, Shiting Song, Zhibiao Fan, Qixin Zheng, Qinqin Wu, Jiupan Han, Rui Li, Jingxian Wang, Yuchao Cui, Xi Huang, Changlin Zheng, Hai Zhang, Rongyu Huang, Xinhao Ouyang

引用次数: 0

The Magnaporthe oryzae effector MoCHT1 targets and stabilizes rice OsLLB to suppress jasmonic acid synthesis and enhance infection. Magnaporthe oryzae效应物MoCHT1靶向并稳定水稻OsLLB，抑制茉莉酸合成，增强感染。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-15 DOI: 10.1016/j.jgg.2025.05.004

Ningning Shen, Chuner Lu, Yanhong Wen, Boqian Deng, Yu Dong, Xiaojun Gong, Yuhao Liu, Chengyu Liu, Zixuan Liu, Xianya Deng, Li-Bo Han, Dingzhong Tang, Yuan-Bao Li

{"title":"The Magnaporthe oryzae effector MoCHT1 targets and stabilizes rice OsLLB to suppress jasmonic acid synthesis and enhance infection.","authors":"Ningning Shen, Chuner Lu, Yanhong Wen, Boqian Deng, Yu Dong, Xiaojun Gong, Yuhao Liu, Chengyu Liu, Zixuan Liu, Xianya Deng, Li-Bo Han, Dingzhong Tang, Yuan-Bao Li","doi":"10.1016/j.jgg.2025.05.004","DOIUrl":"10.1016/j.jgg.2025.05.004","url":null,"abstract":"Rice blast disease caused by Magnaporthe oryzae (M. oryzae) poses a serious threat to rice security worldwide. This filamentous pathogen modulates rice defense responses by secreting effectors to facilitate infection. The phytohormone jasmonic acid (JA) plays crucial roles in the response to rice blast fungus. However, how M. oryzae disrupts JA-mediated resistance in rice is not well understood. In this study, we identify a new effector, a chloroplast-targeting protein (MoCHT1), from M. oryzae. Knocking out MoCHT1 decreases virulence, whereas heterologous expression of MoCHT1 in rice compromises disease resistance. MoCHT1 interacts with a rice LESION AND LAMINA BENDING (OsLLB) protein, a negative regulator of JA biosynthesis in the chloroplast. Loss-of-function of OsLLB leads to increased JA accumulation, thereby improving resistance to rice blast. The interaction between MoCHT1 and OsLLB results in the inhibition of OsLLB degradation, consequently reducing JA accumulation, thereby impairing JA content and decreasing plant disease resistance. Overall, this study reveals the molecular mechanism by which M. oryzae utilizes MoCHT1 to subvert rice JA signaling, broadening our understanding of how pathogens circumvent host immune responses by manipulating plant defense hormone biosynthesis.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144095923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

DNA methylation landscapes of in vitro matured oocytes retrieved during endoscopic gynaecological procedures. 内窥镜妇科手术中体外成熟卵母细胞的DNA甲基化景观。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-14 DOI: 10.1016/j.jgg.2025.05.002

Cui-Ling Lu, Xue-Ling Song, Xiao-Ying Zheng, Tian-Shu Song, Xiao-Na Wang, Jie Yan, Rui Yang, Rong Li, Jie Qiao

{"title":"DNA methylation landscapes of in vitro matured oocytes retrieved during endoscopic gynaecological procedures.","authors":"Cui-Ling Lu, Xue-Ling Song, Xiao-Ying Zheng, Tian-Shu Song, Xiao-Na Wang, Jie Yan, Rui Yang, Rong Li, Jie Qiao","doi":"10.1016/j.jgg.2025.05.002","DOIUrl":"10.1016/j.jgg.2025.05.002","url":null,"abstract":"In vitro maturation (IVM) of human oocytes offers cost efficiency and minimal invasiveness, serving as a valuable supplementary tool in assisted reproduction for fertility preservation, ovarian hyperstimulation syndrome prevention, and other reproductive strategies. Despite its availability for three decades, the clinical use of IVM remains limited due to efficacy and safety concerns. This study examines the DNA methylation profile of IVM oocytes collected during laparoscopic/hysteroscopic surgeries compared to in vivo matured oocytes via reduced representation bisulfite sequencing. Results indicate IVM oocytes exhibit a higher global methylation level. Differentially methylated regions (DMR) analysis reveals that the in vitro group displays more hypermethylated and fewer hypomethylated DMRs compared to the in vivo group. Additionally, the in vitro group exhibits a higher level of non-CpG methylation than the in vivo group. However, no significant correlation between methylation levels and transcriptional activity in these oocytes is found, especially for those specific imprinted genes or genes related to embryonic development. These findings shed light on the epigenetic landscape of IVM oocytes, contributing to the ongoing assessment of their clinical feasibility and safety in assisted reproduction.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144087038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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

Enhancing quality traits in staple crops: current advances and future perspectives. 提高主粮作物品质性状：当前进展与未来展望。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-08 DOI: 10.1016/j.jgg.2025.05.001

Changfeng Yang, Lichun Huang, Bai-Chen Wang, Yingxin Zhong, Xiaohui Ma, Changquan Zhang, Qixin Sun, Yongrui Wu, Yingyin Yao, Qiaoquan Liu

引用次数: 0

Unveiling cell-type-specific mode of evolution in comparative single-cell expression data. 在比较单细胞表达数据中揭示细胞类型特异性进化模式。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-07 DOI: 10.1016/j.jgg.2025.04.022

Tian Qin, Hongjiu Zhang, Zhengting Zou

{"title":"Unveiling cell-type-specific mode of evolution in comparative single-cell expression data.","authors":"Tian Qin, Hongjiu Zhang, Zhengting Zou","doi":"10.1016/j.jgg.2025.04.022","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.04.022","url":null,"abstract":"While methodology for determining the mode of evolution in coding sequences has been well established, evaluation of adaptation events in emerging types of phenotype data needs further development. Here we propose an analysis framework (expression variance decomposition, EVaDe) for comparative single-cell expression data based on phenotypic evolution theory. After decomposing the gene expression variance into separate components, we use two strategies to identify genes exhibiting large between-taxon expression divergence and small within-cell-type expression noise in certain cell types, attributing this pattern to putative adaptive evolution. In a dataset of primate prefrontal cortex, we find that such human-specific key genes enrich with neurodevelopment-related functions, while most other genes exhibit neutral evolution patterns. Specific neuron types are found to harbor more of these key genes than other cell types, thus likely to have experienced more extensive adaptation. Reassuringly, at molecular sequence level, the key genes are significantly associated with the rapidly evolving conserved non-coding elements. An additional case analysis comparing the naked mole-rat (NMR) with the mouse suggests that innate-immunity-related genes and cell types have undergone putative expression adaptation in NMR. Overall, the EVaDe framework may effectively probe adaptive evolution mode in single-cell expression data.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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