Journal of Genetics and Genomics最新文献_第2页

ccdc141 is required for left-right axis development by regulating cilia formation in the Kupffer's vesicle of zebrafish. ccdc141通过调节斑马鱼库氏囊中纤毛的形成，是左右轴发育所必需的。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-01 Epub Date: 2024-07-22 DOI: 10.1016/j.jgg.2024.07.014

Pengcheng Wang, Wenxiang Shi, Sijie Liu, Yunjing Shi, Xuechao Jiang, Fen Li, Sun Chen, Kun Sun, Rang Xu

{"title":"ccdc141 is required for left-right axis development by regulating cilia formation in the Kupffer's vesicle of zebrafish.","authors":"Pengcheng Wang, Wenxiang Shi, Sijie Liu, Yunjing Shi, Xuechao Jiang, Fen Li, Sun Chen, Kun Sun, Rang Xu","doi":"10.1016/j.jgg.2024.07.014","DOIUrl":"10.1016/j.jgg.2024.07.014","url":null,"abstract":"Laterality is a crucial physiological process intricately linked to the cilium-centrosome complex during embryo development. Defects in the process can result in severe organ mispositioning. Coiled-coil domain containing 141 (CCDC141) has been previously known as a centrosome-related gene, but its role in left-right (LR) asymmetry has not been characterized. In this study, we utilize the zebrafish model and human exome analysis to elucidate the function of ccdc141 in laterality defects. The knockdown of ccdc141 in zebrafish disrupts early LR signaling pathways, cilia function, and Kupffer's vesicle formation. Unlike ccdc141-knockdown embryos exhibiting aberrant LR patterns, ccdc141-null mutants show no apparent abnormality, suggesting a genetic compensation response effect. In parallel, we observe a marked reduction in α-tubulin acetylation levels in the ccdc141 crispants. The treatment with histone deacetylase (HDAC) inhibitors, particularly the HDAC6 inhibitor, rescues the ccdc141 crispant phenotypes. Furthermore, exome analysis of 70 patients with laterality defects reveals an increased burden of CCDC141 mutations, with in-vivo studies verifying the pathogenicity of the patient mutation CCDC141-R123G. Our findings highlight the critical role of ccdc141 in ciliogenesis and demonstrate that CCDC141 mutations lead to abnormal LR patterns, identifying it as a candidate gene for laterality defects.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141762719","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

PDGFRB mutation causes intracranial aneurysm. PDGFRB 突变导致颅内动脉瘤。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-01 Epub Date: 2024-07-22 DOI: 10.1016/j.jgg.2024.07.011

Junyu Liu, Chunling Wang, Enyu Huang, Luming Wang, Chengchao Wu, Weixi Jiang, Mei Wu, Xiuru Zhang, Junxia Yan, Yeqi Wang, Jingjing Zhang

引用次数: 0

Establishment and transcriptome analysis of single blastomere-derived cell lines from zebrafish. 斑马鱼单胚层衍生细胞系的建立和转录组分析。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-01 Epub Date: 2024-08-02 DOI: 10.1016/j.jgg.2024.07.018

Jia Xu, Siqi Liu, Yirui Ai, Yunbin Zhang, Shifeng Li, Yiping Li

引用次数: 0

COL: a method for identifying putatively functional circular RNAs. COL：一种识别可能具有功能的环状 RNA 的方法。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-08-30 DOI: 10.1016/j.jgg.2024.08.007

Zheng Li, Bandhan Sarker, Fengyu Zhao, Tianjiao Zhou, Jianzhi Zhang, Chuan Xu

引用次数: 0

Migration and proliferation of ductal cells promote pancreatic repair after trauma. 导管细胞的迁移和增殖可促进创伤后的胰腺修复。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-08-28 DOI: 10.1016/j.jgg.2024.08.004

Chaoqing Cheng, Jinzi Chen, Liqi Zhang, Bangzhuo Huang, Jianlong Ma, Lingfei Luo, Yun Yang

引用次数: 0

HMG-3 contributes to meiotic chromosome maintenance and inhibits reproductive aging in C. elegans. HMG-3有助于减数分裂染色体的维持并抑制优雅小鼠的生殖衰老。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-08-28 DOI: 10.1016/j.jgg.2024.08.005

Fengguo Zhang, Yuanyuan Liu, Yanmei Li, Xiuxiu Liu, Yingchun Zhang, Guohai Su

引用次数: 0

Ectopic expression of Myomaker and Myomixer in slow muscle cells induces slow muscle fusion and myofiber death. 慢肌细胞中Myomaker和Myomixer的异位表达可诱导慢肌融合和肌纤维死亡。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-08-27 DOI: 10.1016/j.jgg.2024.08.006

Pengzheng Yong, Zhanxiong Zhang, Shaojun Du

{"title":"Ectopic expression of Myomaker and Myomixer in slow muscle cells induces slow muscle fusion and myofiber death.","authors":"Pengzheng Yong, Zhanxiong Zhang, Shaojun Du","doi":"10.1016/j.jgg.2024.08.006","DOIUrl":"https://doi.org/10.1016/j.jgg.2024.08.006","url":null,"abstract":"Zebrafish embryos possess two major types of myofibers, the slow and fast fibers, with distinct patterns of cell fusion. The fast muscle cells can fuse, while the slow muscle cells cannot. Here, we show that myomaker is expressed in both slow and fast muscle precursors, while myomixer is exclusive to fast muscle cells. The loss of Prdm1a, a regulator of slow muscle differentiation, results in strong myomaker and myomixer expression and slow muscle cell fusion. This abnormal fusion is further confirmed by the direct ectopic expression of myomaker or myomixer in slow muscle cells of transgenic models. Using the transgenic models, we show that the heterologous fusion between slow and fast muscle cells can alter slow muscle cell migration and gene expression. Furthermore, the overexpression of myomaker and myomixer also disrupts membrane integrity, resulting in muscle cell death. Collectively, this study identifies that the fiber-type-specific expression of fusogenic proteins is critical for preventing inappropriate fusion between slow and fast fibers in fish embryos, highlighting the need for precise regulation of fusogenic gene expression to maintain muscle fiber integrity and specificity.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114903","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

Overexpression of CRYPTOCHROME 2 enhances shoot growth and wood formation in poplar under growth-restrictive short days. 在生长受限的短日照条件下，过量表达 CRYPTOCHROME 2 可促进杨树的嫩枝生长和木材形成。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-08-19 DOI: 10.1016/j.jgg.2024.08.003

Hongbin Wei, Fan Sun, Jianghai Mo, Bingrui Hu, Keming Luo

引用次数: 0

Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling. NTNG2的复合杂合突变通过抑制CaMKII信号传导导致智力残疾。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-08-14 DOI: 10.1016/j.jgg.2024.08.001

Yaoting Chen, Jiang Chen, Lili Liang, Weiqian Dai, Nan Li, Shuangshuang Dong, Yongkun Zhan, Guiquan Chen, Yongguo Yu

{"title":"Compound heterozygous mutations of NTNG2 cause intellectual disability via inhibition of the CaMKII signaling.","authors":"Yaoting Chen, Jiang Chen, Lili Liang, Weiqian Dai, Nan Li, Shuangshuang Dong, Yongkun Zhan, Guiquan Chen, Yongguo Yu","doi":"10.1016/j.jgg.2024.08.001","DOIUrl":"https://doi.org/10.1016/j.jgg.2024.08.001","url":null,"abstract":"Netrin-G2 is a membrane-anchored protein and is known to play critical roles in neuronal circuit development and synaptic organization. In this study, we identify compound heterozygous mutations of c.547delC, p.(Arg183Alafs*186) and c.605G>A, p.(Trp202*) in NTNG2 causing a syndrome exhibiting developmental delay, intellectual disability, hypotonia, and facial dysmorphism. To elucidate the underlying cellular and molecular mechanisms, CRISPR-Cas9 technology is employed to generate a knock-in mouse model expressing the R183Afs and W202X mutations. We report that the Ntng2R183Afs/W202X mice exhibit hypotonia and impaired learning and memory. We find that levels of CaMKII and p-GluA1Ser831 are decreased and excitatory postsynaptic transmission and long-term potentiation are impaired. To increase the activity of CaMKII, the mutant mice have received intraperitoneal injections of DCP-LA, a CaMKII agonist, and show improved cognitive function. Together, our findings reveal molecular mechanisms of how NTNG2 deficiency leads to impairments of cognitive ability and synaptic plasticity.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996960","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

Insights into left-right asymmetric development of chicken ovary at the single-cell level. 在单细胞水平上揭示鸡卵巢左右不对称的发育过程

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-08-13 DOI: 10.1016/j.jgg.2024.08.002

Tao Wang, Dong Leng, Zhongkun Cai, Binlong Chen, Jing Li, Hua Kui, Diyan Li, Zhuanjian Li

{"title":"Insights into left-right asymmetric development of chicken ovary at the single-cell level.","authors":"Tao Wang, Dong Leng, Zhongkun Cai, Binlong Chen, Jing Li, Hua Kui, Diyan Li, Zhuanjian Li","doi":"10.1016/j.jgg.2024.08.002","DOIUrl":"https://doi.org/10.1016/j.jgg.2024.08.002","url":null,"abstract":"Avian ovaries develop asymmetrically apart from prey birds, with only the left ovary growing more towards functional organs. Here, we analyze over 135,000 cells from chick's left and right ovaries at six distinct embryonic developmental stages utilizing single-cell transcriptome sequencing. We delineate gene expression patterns across 15 cell types within these embryo ovaries, revealing side-specific development. The left ovaries exhibit cortex cells, zygotene germ cells, and transcriptional changes unique to the left side. Differential gene expression analysis further identifies specific markers and pathways active in these cell types, highlighting the asymmetry in ovarian development. A fine-scale analysis of the germ cell meiotic transcriptome reveals seven distinct clusters with gene expression patterns specific to various meiotic stages. The study also identifies signaling pathways and intercellular communications, particularly between pre-granulosa and germ cells. Spatial transcriptome analysis shows the asymmetry, demonstrating cortex cells exclusively in the left ovary, modulating neighboring cell types through putative secreted signaling molecules. Overall, this single-cell analysis provides insights into the molecular mechanisms of the asymmetric development of avian ovaries, particularly the significant role of cortex cells in the left ovary.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989584","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