Journal of Genetics and Genomics最新文献

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Functional characterization of OsLT9 in regulating rice leaf thickness. OsLT9调控水稻叶片厚度的功能研究
IF 7.1 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-29 DOI: 10.1016/j.jgg.2025.07.010
Jian Wang, Dagang Chen, Haifei Hu, Yamei Ma, Tifeng Yang, Jie Guo, Ke Chen, Chanjuan Ye, Juan Liu, Xinqiao Zhou, Chuanguang Liu, Junliang Zhao
{"title":"Functional characterization of OsLT9 in regulating rice leaf thickness.","authors":"Jian Wang, Dagang Chen, Haifei Hu, Yamei Ma, Tifeng Yang, Jie Guo, Ke Chen, Chanjuan Ye, Juan Liu, Xinqiao Zhou, Chuanguang Liu, Junliang Zhao","doi":"10.1016/j.jgg.2025.07.010","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.07.010","url":null,"abstract":"<p><p>Leaf thickness in rice critically influences photosynthetic efficiency and yield, yet its genetic basis remains poorly understood, with few functional genes previously characterized. In this study, we employ a pangenome-wide association study (Pan-GWAS) on 302 diverse rice accessions from southern China, identifying 49 quantitative trait loci (QTLs) associated with leaf thickness. The most significant locus, qLT9, is fine-mapped to a 79 kb region on chromosome 9. Transcriptomic and genomic sequence analyses identify LOC_Os09g33480, which encodes a protein belonging to Multiple Organellar RNA Editing Factor (MORF) family, as the key candidate gene. Overexpression and complementation transgenic experiments confirm LOC_Os09g33480 (OsLT9) as the functional gene underlying qLT9, demonstrating a 24-bp Indel in its promoter correlates with the expression levels and leaf thickness. Notably, OsLT9 overexpression lines show not only thicker leaf, but also significantly enhanced photosynthetic efficiency and grain yield, establishing a link between leaf thickness modulation and yield enhancement. Population genomic analyses indicate strong selection for OsLT9 during domestication and breeding, with modern cultivars favoring thick leaf haplotype of OsLT9. This study establishes OsLT9 as a key regulator controlling leaf thickness in rice, and provides a valuable genetic resource for molecular breeding of high-yielding rice through optimization of plant architecture.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":7.1,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762348","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
Massively parallel characterization of non-coding de novo mutations in autism spectrum disorder. 自闭症谱系障碍中非编码新生突变的大规模平行表征。
IF 7.1 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-28 DOI: 10.1016/j.jgg.2025.07.008
Congcong Chen, Songwei Guo, Yanan Shi, Xinyu Gu, Ziye Xu, Yingjia Chen, Yayun Gu, Na Qin, Yue Jiang, Juncheng Dai, Yuanlin He, Xiao Han, Yan Liu, Zhibin Hu, Xiaoyan Ke, Cheng Wang
{"title":"Massively parallel characterization of non-coding de novo mutations in autism spectrum disorder.","authors":"Congcong Chen, Songwei Guo, Yanan Shi, Xinyu Gu, Ziye Xu, Yingjia Chen, Yayun Gu, Na Qin, Yue Jiang, Juncheng Dai, Yuanlin He, Xiao Han, Yan Liu, Zhibin Hu, Xiaoyan Ke, Cheng Wang","doi":"10.1016/j.jgg.2025.07.008","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.07.008","url":null,"abstract":"<p><p>Autism spectrum disorder (ASD) is a neurodevelopmental disorder where de novo mutations play a significant role. Although coding mutations in ASD have been extensively characterized, the impact of non-coding de novo mutations (ncDNMs) remains less understood. Here, we integrate cortex cell-specific cis-regulatory element annotations, a deep learning-based variant prediction model, and massively parallel reporter assays to systematically evaluate the functional impact of 227,878 ncDNMs from Simons Simplex Collection (SSC) and Autism Speaks MSSNG resource (MSSNG) cohorts. Our analysis identifies 238 ncDNMs with confirmed functional regulatory effects, including 137 down-regulated regulatory mutations (DrMuts) and 101 up-regulated regulatory mutations (UrMuts). Subsequent association analyses reveal that only DrMuts regulating loss-of-function (LoF) intolerant genes rather than other ncDNMs are significantly associated with the risk of ASD (Odds ratio = 4.34; P = 0.001). A total of 42 potential ASD-risk DrMuts across 41 candidate ASD-susceptibility genes are identified, including 12 recognized and 29 unreported genes. Interestingly, these noncoding disruptive mutations tend to be observed in genes extremely intolerant to LoF mutations. Our study introduces an optimized approach for elucidating the functional roles of ncDNMs, thereby expanding the spectrum of pathogenic variants and deepening our understanding of the complex molecular mechanisms underlying ASD.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":7.1,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755163","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
Universal single-copy ortholog benchmark gene set for bryophytes. 苔藓植物通用单拷贝同源基准基因集。
IF 7.1 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-26 DOI: 10.1016/j.jgg.2025.07.009
Xuping Zhou, Tao Peng, Jin Yu, Shanshan Dong, Yang Liu
{"title":"Universal single-copy ortholog benchmark gene set for bryophytes.","authors":"Xuping Zhou, Tao Peng, Jin Yu, Shanshan Dong, Yang Liu","doi":"10.1016/j.jgg.2025.07.009","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.07.009","url":null,"abstract":"","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":7.1,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144735459","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
Postnatal critical-period brain plasticity and neurodevelopmental disorders: revisited circuit mechanisms. 产后关键期脑可塑性和神经发育障碍:重新审视回路机制。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-19 DOI: 10.1016/j.jgg.2025.07.006
Ziwei Shang, Xiaohui Zhang
{"title":"Postnatal critical-period brain plasticity and neurodevelopmental disorders: revisited circuit mechanisms.","authors":"Ziwei Shang, Xiaohui Zhang","doi":"10.1016/j.jgg.2025.07.006","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.07.006","url":null,"abstract":"<p><p>Critical periods (CPs) are defined as postnatal developmental windows during which brain circuits exhibit heightened sensitivity to altered experiences or sensory inputs, particularly during brain development in humans and animals. During the CP, experience-induced refinements of neural connections are crucial for establishing adaptive and mature brain functions, and aberrant CPs are often accompanied by many neurodevelopmental disorders (NDDs), including autism spectrum disorders and schizophrenia. Understanding neural mechanisms underlying the CP regulation is key to delineating the etiology of NDDs caused by abnormal postnatal neurodevelopment. Recent evidence from studies using innovative experimental tools has continuously revisited the inhibition-gating theory of CP to systematically elucidate the differential roles of distinct inhibitory circuits. Here, we provide a comprehensive review of classical experimental findings and emerging inhibitory-circuit regulation mechanisms of the CP, and further discuss how aberrant CP plasticity is associated with NDDs.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683615","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
Jasmonate signaling: integrating stress responses with developmental regulation in plants. 茉莉酸信号传导:植物逆境响应与发育调控的整合。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-19 DOI: 10.1016/j.jgg.2025.07.007
Yanbing Li, Fangming Wu, Chuanyou Li
{"title":"Jasmonate signaling: integrating stress responses with developmental regulation in plants.","authors":"Yanbing Li, Fangming Wu, Chuanyou Li","doi":"10.1016/j.jgg.2025.07.007","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.07.007","url":null,"abstract":"<p><p>Jasmonates (JAs) are essential phytohormones that coordinate plant defense and development in response to unpredictable environments. Recent scientific advances have highlighted the SCF<sup>COI1</sup>-JAZ-MYC2-MED25 module as a central hub for JA signaling, orchestrating transcriptional repression, derepression, activation, amplification, and feedback termination. This review summarizes current insights into the roles of JA in the regulation of biotic and abiotic stress responses and agronomic traits, including root development, regeneration, fertility, flowering, leaf senescence, and seed development, with a particular emphasis on the crosstalk between JA and a wound-induced peptide hormone, systemin, which mediates systemic wound responses. A deeper understanding of the JA regulatory mechanisms will provide valuable strategies for engineering crops with enhanced stress resilience and improved yields. We further propose JA-based strategies as a promising avenue for crop improvement.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683614","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
Receptor-like protein 51 regulates brassinosteroid signaling by promoting the abundances of BRI1 and BAK1. 受体样蛋白51通过促进BRI1和BAK1的丰度调节油菜素内酯信号。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-18 DOI: 10.1016/j.jgg.2025.07.005
Yuan Fang, Pengcheng Li, Bingqing Tao, Yujun Wu, Beibei Liu, Chengbin Xiao, Jia Li, Kai He
{"title":"Receptor-like protein 51 regulates brassinosteroid signaling by promoting the abundances of BRI1 and BAK1.","authors":"Yuan Fang, Pengcheng Li, Bingqing Tao, Yujun Wu, Beibei Liu, Chengbin Xiao, Jia Li, Kai He","doi":"10.1016/j.jgg.2025.07.005","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.07.005","url":null,"abstract":"<p><p>Brassinosteroids (BRs) are essential phytohormones that broadly regulate plant growth, development, and adaptation to biotic and abiotic stresses. In Arabidopsis, apoplastic BR molecules are perceived by a plasma membrane-localized receptor complex comprising the ligand-binding receptor BRI1 and the co-receptor BAK1. While negative regulators of the BR receptor complex, such as BKI1, BIR3, and PUB12/13, have been well characterized, how BRI1 and BAK1 are positively modulated in the BR pathway remains largely unknown. In this study, a genetic screen involving overexpression of RLP genes in the bak1-3 bkk1-1 double mutant reveals that enhanced RLP51 expression partially suppresses the BR-deficient phenotypes of bak1-3 bkk1-1. RLP51 overexpression also partially rescues the weak bri1 mutant allele, bri1-301. Although the rlp51 single mutant exhibits wild-type-like phenotypes, it enhances BR-defective phenotypes in bri1-301 and bak1 serk1 mutants. RLP51 is next found to interact with both BRI1 and BAK1 without affecting BRI1-BAK1 interaction. Critically, co-expression of RLP51 with BRI1 or BAK1 significantly increases BRI1 and BAK1 protein abundances. RLP51 appears to promote protein synthesis rather than stabilize BRI1 and BAK1 proteins. Thus, our study identifies RLP51 as a positive regulator of BR signaling that enhances the protein levels of BRI1 and BAK1.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676626","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
Whole-genome sequencing provides insights into the evolutionary adaptation and conservation of gibbons. 全基因组测序为长臂猿的进化适应和保护提供了见解。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-18 DOI: 10.1016/j.jgg.2025.07.004
Wang Guiqiang, Wu Yajiang, Wang Song, Jia Ting, Yang Peng, Xu Zhongshi, Niu Wenhui, Shan Fen, Wang Chen, Chen Wu, Sun Ting
{"title":"Whole-genome sequencing provides insights into the evolutionary adaptation and conservation of gibbons.","authors":"Wang Guiqiang, Wu Yajiang, Wang Song, Jia Ting, Yang Peng, Xu Zhongshi, Niu Wenhui, Shan Fen, Wang Chen, Chen Wu, Sun Ting","doi":"10.1016/j.jgg.2025.07.004","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.07.004","url":null,"abstract":"<p><p>Gibbons are small, arboreal apes that play a critical role in tropical biodiversity and ecosystem ecology. However, nearly all species of gibbons are threatened by habitat loss, illegal trade, hunting, and other human activities. Long-term poor understanding of their genetics and evolution undermines effective conservation efforts. In this study, we analyse comparative population genomic data of four Nomascus species. Our results reveal strong genetic differentiation among these species as well as gene flow among Nomascus species. Additionally, we identify genomic features that are potentially related to natural selection linked to vocalization, fructose metabolism, motor balance, and body size, consistent with the unique phenotype and adaptability of gibbons. Inbreeding coupled with population declines due to climate change and historical human activities leads to reduced genetic diversity and the accumulation of deleterious variation that likely affects cardiovascular disease and the reproductive potential of gibbons and further reduces their fitness, highlighting the urgent need for effective conservation strategies.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676627","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
Genetic landscape of hereditary cardiomyopathies and arrhythmias in China. 中国遗传性心肌病和心律失常的遗传景观。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-11 DOI: 10.1016/j.jgg.2025.07.003
Yang Lu, Zeyuan Wang, Shuyuan Zhang, Yaping Liu, Ye Jin, Zhuang Tian, Shuyang Zhang
{"title":"Genetic landscape of hereditary cardiomyopathies and arrhythmias in China.","authors":"Yang Lu, Zeyuan Wang, Shuyuan Zhang, Yaping Liu, Ye Jin, Zhuang Tian, Shuyang Zhang","doi":"10.1016/j.jgg.2025.07.003","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.07.003","url":null,"abstract":"<p><p>Hereditary cardiomyopathies and arrhythmias are major contributors to cardiovascular morbidity and mortality. The advent of next-generation sequencing (NGS) has made genetic testing more accessible, which is crucial for precise diagnosis and targeted therapeutic strategies. The aim of this study is to explore the landscape of genetic variants, the relationship between specific variants and clinical phenotypes, and the impact on clinical decision-making in China. A total of 1,536 probands (median age, 37 years; 1,025 males [66.7%]) with suspected hereditary cardiomyopathy or arrhythmia (covering 15 clinical phenotypes) are recruited from 146 hospitals across 30 provinces and cities in China. Positive results are confirmed in 390 of 1536 probands, leading to a diagnostic yield of 25.4%. Forty-two and three tenths percent (n = 169) of family members carry the same variants as positive probands. Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the predominant phenotypes, with MYBPC3 variants having the highest frequency in HCM and TTN variants in DCM. In 76.9% of the positive probands, the identified variants are helpful in clinical management, family screening and fertility. This large-scale study provides significant insights into the genetic landscape of hereditary cardiomyopathies and arrhythmias in China.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144627789","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
PHYTOCHROME-INTERACTING FACTOR3 (PIF3) orthologs orchestrate stem elongation and wood formation in Populus. 光敏色素相互作用因子3 (PIF3)同源物调控着杨树的茎伸长和木材形成。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-07 DOI: 10.1016/j.jgg.2025.07.002
Xingyue Xiao, Hongli Cheng, Jianghai Mo, Fan Sun, Qin Song, Chengshan Zhang, Pan Yang, Keming Luo, Hongbin Wei
{"title":"PHYTOCHROME-INTERACTING FACTOR3 (PIF3) orthologs orchestrate stem elongation and wood formation in Populus.","authors":"Xingyue Xiao, Hongli Cheng, Jianghai Mo, Fan Sun, Qin Song, Chengshan Zhang, Pan Yang, Keming Luo, Hongbin Wei","doi":"10.1016/j.jgg.2025.07.002","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.07.002","url":null,"abstract":"<p><p>Phytochrome-interacting factors (PIFs) have been established as negative regulators of vascular patterning and xylem differentiation in the herbaceous plant Arabidopsis thaliana, however, PIFs' regulatory role in secondary growth in woody species remains unclear. Here, we examined the expression patterns and involvement of PtoPIF3.1 and PtoPIF3.2 during stem growth and secondary xylem development in Populus tomentosa. Overexpression of either PtoPIF3.1 or PtoPIF3.2 significantly enhances both longitudinal stem growth and radial wood development. Conversely, CRISPR-generated Ptopif3.1 and Ptopif3.2 mutants exhibit reciprocal phenotypic defects. Exogenous auxin application partially restores the phenotypes of Ptopif3.1 and Ptopif3.2 mutants, and the auxin biosynthesis-deficient mutant Ptoyuc8 exhibits developmental abnormalities similar to those observed in Ptopif3 mutants. Further analysis revealed that PtoPIF3s directly bind to and activate expression of PtoYUC8 and cell expansion-related genes PtoEXPA1.1/1.2, while modulating cambial division and secondary xylem development marker genes (PtoWOX4, PtoANT, PtoCYCD3s, and PtoHB7/8) through auxin-mediated signaling. Together, our findings establish PtoPIF3.1/3.2 as key regulators that coordinate stem elongation and secondary growth in Populus, highlighting the functional divergence of PIF homologs between herbaceous and woody species.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602279","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
USP21 deubiquitinates DPYSL2 and enhances its centrosomal abundance to promote cilium formation. USP21去泛素化DPYSL2,增强其中心体丰度,促进纤毛形成。
IF 6.6 2区 生物学
Journal of Genetics and Genomics Pub Date : 2025-07-04 DOI: 10.1016/j.jgg.2025.06.006
Ting Song, Peng Zhou, Fengguo Zhang, Chunli Liu, Xueqing Han, Yiyang Yue, Mingzheng Hu, Shaodong Yan, Qingchao Li, Min Liu, Jun Zhou, Huijie Zhao
{"title":"USP21 deubiquitinates DPYSL2 and enhances its centrosomal abundance to promote cilium formation.","authors":"Ting Song, Peng Zhou, Fengguo Zhang, Chunli Liu, Xueqing Han, Yiyang Yue, Mingzheng Hu, Shaodong Yan, Qingchao Li, Min Liu, Jun Zhou, Huijie Zhao","doi":"10.1016/j.jgg.2025.06.006","DOIUrl":"https://doi.org/10.1016/j.jgg.2025.06.006","url":null,"abstract":"<p><p>Cilia are microtubule-based organelles projecting from the cell surface with important sensory and motility functions. Ciliary defects are associated with diverse diseases collectively known as ciliopathies. However, the molecular mechanisms that govern ciliogenesis remain not fully understood. Herein, we demonstrate that ubiquitin-specific protease 21 (USP21) is indispensable for cilium formation through its deubiquitinating activity. Usp21 knockout mice exhibit ciliary defects in multiple organs, such as the kidney, liver, and trachea. Our data also reveal a constant localization of USP21 at the centrosome and basal body during ciliogenesis. Mechanistically, USP21 interacts with dihydropyrimidinase-like 2 (DYPSL2) at the centrosome and removes lysine 48-linked ubiquitination from DYPSL2. Loss of USP21 leads to the proteasomal degradation of DPYSL2 and causes a significant reduction in its centrosome abundance, ultimately resulting in ciliary defects. These findings thus identify a critical role for the USP21-DPYSL2 axis in ciliogenesis and have important implications for health and disease.</p>","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576989","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
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