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

TAZ inhibits SCLC metastasis through GALNT18-mediated O-glycosylation. TAZ通过GALNT18介导的O-糖基化抑制SCLC转移。

IF 5.9 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-09 DOI: 10.1016/j.jgg.2024.09.001

Zhiwei Zhang,Zhijue Xu,Xinyi Qian,Yanxu Chen,Duo Li,Zhen Qin,Luonan Chen,Yan Zhang,Yujuan Jin,Hongbin Ji

引用次数: 0

Whole-Genome Sequencing Identifies Functional Genes for Environmental Adaptation in Chinese Sheep. 全基因组测序发现中国绵羊适应环境的功能基因

IF 5.9 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-09 DOI: 10.1016/j.jgg.2024.08.011

Yinan Niu,Yefang Li,Yuhetian Zhao,Xiaohong He,Qianjun Zhao,Yabin Pu,Yuehui Ma,Lin Jiang

{"title":"Whole-Genome Sequencing Identifies Functional Genes for Environmental Adaptation in Chinese Sheep.","authors":"Yinan Niu,Yefang Li,Yuhetian Zhao,Xiaohong He,Qianjun Zhao,Yabin Pu,Yuehui Ma,Lin Jiang","doi":"10.1016/j.jgg.2024.08.011","DOIUrl":"https://doi.org/10.1016/j.jgg.2024.08.011","url":null,"abstract":"Sheep (Ovis aries), among the first domesticated species, are now globally widespread and exhibit remarkable adaptability to diverse environments. In this study, we perform whole-genome sequencing of 266 animals from 18 distinct Chinese sheep populations, each displaying unique phenotypes indicative of adaptation to varying environmental conditions. Integrating 131 environmental factors with single nucleotide polymorphism variations, we conduct a comprehensive genetic-environmental association analysis. This analysis identifies 35 key genes likely integral to the environmental adaptation of sheep. The functions of these genes include fat tail formation (HOXA10, HOXA11, JAZF1), wool characteristics (FER, FGF5, MITF, PDE4B), horn phenotypes (RXFP2), reproduction (HIBADH, TRIM71, C6H4orf22) and growth traits (ADGRL3, TRHDE). Notably, we observe a significant correlation between the frequency of missense mutations in the PAPSS2 and RXFP2 genes and variations in altitude. Our study reveals candidate genes for adaptive variation in sheep and demonstrates the diversity in the ways sheep adapt to their environment.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":5.9,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142196492","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

Nicotine-induced transcriptional changes and mitochondrial dysfunction in the ventral tegmental area revealed by single-nucleus transcriptomics. 单核转录组学揭示尼古丁诱导的腹侧被盖区转录变化和线粒体功能障碍

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-05 DOI: 10.1016/j.jgg.2024.08.009

Lei Fan, Boxin Liu, Ru Yao, Xia Gao, Hongjuan Wang, Sanjie Jiang, Xiaomin Zheng, Huan Chen, Hongwei Hou, Yong Liu, Qingyuan Hu

{"title":"Nicotine-induced transcriptional changes and mitochondrial dysfunction in the ventral tegmental area revealed by single-nucleus transcriptomics.","authors":"Lei Fan, Boxin Liu, Ru Yao, Xia Gao, Hongjuan Wang, Sanjie Jiang, Xiaomin Zheng, Huan Chen, Hongwei Hou, Yong Liu, Qingyuan Hu","doi":"10.1016/j.jgg.2024.08.009","DOIUrl":"10.1016/j.jgg.2024.08.009","url":null,"abstract":"Nicotine is widely recognized as the primary contributor to tobacco dependence. Previous studies have indicated that molecular and behavioral responses to nicotine are primarily mediated by ventral tegmental area (VTA) neurons, and accumulating evidence suggests that glia play prominent roles in nicotine addiction. However, VTA neurons and glia have yet to be characterized at the transcriptional level during the progression of nicotine self-administration. Here, a male mouse model of nicotine self-administration was established and the timing of three critical phases (pre-addiction, addicting, and post-addiction phase) was characterized. Single-nucleus RNA sequencing (snRNA-seq) in the VTA at each phase was performed to comprehensively classify specific cell subtypes. Adaptive changes occurred during the addicting and post-addiction phases, with the addicting phase displaying highly dynamic neuroplasticity that profoundly impacted the transcription in each cell subtype. Furthermore, significant transcriptional changes in energy metabolism-related genes were observed, accompanied by notable structural alterations in neuronal mitochondria during the progression of nicotine self-administration. The results provide insights into mechanisms underlying the progression of nicotine addiction, serving as important resource for identifying potential molecular targets for nicotine cessation.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142146844","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

PPR21 is involved in the splicing of nad2 introns via interacting with PPR-small MutS-related 1 and small PPR protein 2 and is essential to maize seed development. PPR21 通过与 PPR-SMR1 和 SPR2 相互作用参与 nad2 内含子的剪接，对玉米种子的发育至关重要。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-04 DOI: 10.1016/j.jgg.2024.08.010

Yan-Zhuo Yang, Xin-Yuan Liu, Song Gao, Shu-Guang Zhang, Bao-Cai Tan

{"title":"PPR21 is involved in the splicing of nad2 introns via interacting with PPR-small MutS-related 1 and small PPR protein 2 and is essential to maize seed development.","authors":"Yan-Zhuo Yang, Xin-Yuan Liu, Song Gao, Shu-Guang Zhang, Bao-Cai Tan","doi":"10.1016/j.jgg.2024.08.010","DOIUrl":"10.1016/j.jgg.2024.08.010","url":null,"abstract":"Pentatricopeptide repeat (PPR) proteins are a large group of eukaryote-specific RNA-binding proteins that play pivotal roles in plant organelle gene expression. Here, we report the function of PPR21 in mitochondrial intron splicing and its role in maize kernel development. PPR21 is a typical P-type PPR protein targeted to mitochondria. The ppr21 mutants are arrested in embryogenesis and endosperm development, leading to embryo lethality. Null mutations of PPR21 reduce the splicing efficiency of nad2 intron 1, 2, and 4 and impair the assembly and activity of mitochondrial complex I. Previous studies show that the P-type PPR protein EMP12 is required for the splicing of identical introns. However, our protein interaction analyses reveal that PPR21 does not interact with EMP12. Instead, both PPR21 and EMP12 interact with the small MutS-related (SMR) domain-containing PPR protein 1 (PPR-SMR1) and the short P-type PPR protein 2 (SPR2). PPR-SMR1 interacts with SPR2, and both proteins are required for the splicing of many introns in mitochondria, including nad2 intron 1, 2, and 4. These results suggest that a PPR21-(PPR-SMR1/SPR2)-EMP12 complex is involved in the splicing of nad2 introns in maize mitochondria.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142146845","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

Sex chromosome turnover and biodiversity in fishes. 鱼类性染色体的更替和生物多样性。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-02 DOI: 10.1016/j.jgg.2024.08.008

Jingrong Wang, Wenjing Tao, Thomas D Kocher, Deshou Wang

{"title":"Sex chromosome turnover and biodiversity in fishes.","authors":"Jingrong Wang, Wenjing Tao, Thomas D Kocher, Deshou Wang","doi":"10.1016/j.jgg.2024.08.008","DOIUrl":"10.1016/j.jgg.2024.08.008","url":null,"abstract":"The impact of sex chromosomes and their turnover in speciation remains a subject of ongoing debate in the field of evolutionary biology. Fishes are the largest group of vertebrates, and they exhibit unparalleled sexual plasticity, as well as diverse sex-determining (SD) genes, sex chromosomes, and sex-determination mechanisms. This diversity is hypothesized to be associated with the frequent turnover of sex chromosomes in fishes. Although it is evident that amh and amhr2 are repeatedly and independently recruited as SD genes, their relationship with the rapid turnover of sex chromosomes and the biodiversity of fishes remains unknown. We summarize the canonical models of sex chromosome turnover and highlight the vital roles of gene mutation and hybridization with empirical evidence. We revisit Haldane's rule and the large X-effect and propose the hypothesis that sex chromosomes accelerate speciation by multiplying genotypes via hybridization. By integrating recent findings on the turnover of SD genes, sex chromosomes, and sex-determination systems in fish species, this review provides insights into the relationship between sex chromosome evolution and biodiversity in fishes.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":null,"pages":null},"PeriodicalIF":6.6,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134520","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

Assessing the efficacy and safety of gemcitabine-induced thrombocytopenia/neutropenia and thrombocytopenia interventions in zebrafish. 评估吉西他滨诱导的斑马鱼血小板减少症/中性粒细胞减少症和血小板减少症干预措施的有效性和安全性。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-01 Epub Date: 2024-06-24 DOI: 10.1016/j.jgg.2024.06.009

Jialong Deng, Ziyuan Zhou, Wangjun Liao, Qing Lin, Yiyue Zhang

引用次数: 0

Permissive role of CTCF-Hoxb7a-Cdkn2a/b axis in the emergence of hematopoietic stem and progenitor cells during zebrafish embryogenesis. 在斑马鱼胚胎发育过程中，CTCF-Hoxb7a-Cdkn2a/b 轴在造血干细胞和祖细胞的出现中起着促进作用。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-01 Epub Date: 2024-06-08 DOI: 10.1016/j.jgg.2024.06.001

Wenjuan Zhang, Xiaofen Liu, Wenzhi Xue, Lei Gao, Dantong Li, Changbin Jing, Jian Zhao, Weijun Pan

引用次数: 0

A zebrafish tufm mutant model for the COXPD4 syndrome of aberrant mitochondrial function. 线粒体功能异常 COXPD4 综合征的斑马鱼 tufm 突变模型。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-01 Epub Date: 2024-05-31 DOI: 10.1016/j.jgg.2024.05.009

Ting Li, Tursunjan Aziz, Guangyuan Li, Lin Zhang, Jihua Yao, Shunji Jia

{"title":"A zebrafish tufm mutant model for the COXPD4 syndrome of aberrant mitochondrial function.","authors":"Ting Li, Tursunjan Aziz, Guangyuan Li, Lin Zhang, Jihua Yao, Shunji Jia","doi":"10.1016/j.jgg.2024.05.009","DOIUrl":"10.1016/j.jgg.2024.05.009","url":null,"abstract":"Mitochondrial dysfunction is a critical factor leading to a wide range of clinically heterogeneous and often severe disorders due to its central role in generating cellular energy. Mutations in the TUFM gene are known to cause combined oxidative phosphorylation deficiency 4 (COXPD4), a rare mitochondrial disorder characterized by a comprehensive quantitative deficiency in mitochondrial respiratory chain (MRC) complexes. The development of a reliable animal model for COXPD4 is crucial for elucidating the roles and mechanisms of TUFM in disease pathogenesis and benefiting its medical management. In this study, we construct a zebrafish tufm-/- mutant that closely resembles the COXPD4 syndrome, exhibiting compromised mitochondrial protein translation, dysfunctional mitochondria with oxidative phosphorylation defects, and significant metabolic suppression of the tricarboxylic acid cycle. Leveraging this COXPD4 zebrafish model, we comprehensively validate the clinical relevance of TUFM mutations and identify probucol as a promising therapeutic approach for managing COXPD4. Our data offer valuable insights for understanding mitochondrial diseases and developing effective treatments.","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":"141201484","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

Interplay of RNA-binding proteins controls germ cell development in zebrafish. RNA 结合蛋白的相互作用控制着斑马鱼生殖细胞的发育。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-09-01 Epub Date: 2024-07-04 DOI: 10.1016/j.jgg.2024.06.020

De-Li Shi

{"title":"Interplay of RNA-binding proteins controls germ cell development in zebrafish.","authors":"De-Li Shi","doi":"10.1016/j.jgg.2024.06.020","DOIUrl":"10.1016/j.jgg.2024.06.020","url":null,"abstract":"The specification of germ cells in zebrafish mostly relies on an inherited mechanism by which localized maternal determinants, called germ plasm, confer germline fate in the early embryo. Extensive studies have partially allowed the identification of key regulators governing germ plasm formation and subsequent germ cell development. RNA-binding proteins, acting in concert with other germ plasm components, play essential roles in the organization of the germ plasm and the specification, migration, maintenance, and differentiation of primordial germ cells. The loss of their functions impairs germ cell formation and causes sterility or sexual conversion. Evidence is emerging that they instruct germline development through differential regulation of mRNA fates in somatic and germ cells. However, the challenge remains to decipher the complex interplay of maternal germ plasm components in germ plasm compartmentalization and germ cell specification. Because failure to control the developmental outcome of germ cells disrupts the formation of gametes, it is important to gain a complete picture of regulatory mechanisms operating in the germ cell lineage. This review sheds light on the contributions of RNA-binding proteins to germ cell development in zebrafish and highlights intriguing questions that remain open for future investigation.","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":"141538952","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

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