Journal of Genetics and Genomics最新文献_第9页

Age-dependent genetic architectures of chicken body weight explored by multidimensional GWAS and molQTL analyses. 通过多维 GWAS 和 molQTL 分析探索鸡体重随年龄变化的遗传结构。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-12-01 Epub Date: 2024-09-19 DOI: 10.1016/j.jgg.2024.09.003

Conghao Zhong, Xiaochang Li, Dailu Guan, Boxuan Zhang, Xiqiong Wang, Liang Qu, Huaijun Zhou, Lingzhao Fang, Congjiao Sun, Ning Yang

{"title":"Age-dependent genetic architectures of chicken body weight explored by multidimensional GWAS and molQTL analyses.","authors":"Conghao Zhong, Xiaochang Li, Dailu Guan, Boxuan Zhang, Xiqiong Wang, Liang Qu, Huaijun Zhou, Lingzhao Fang, Congjiao Sun, Ning Yang","doi":"10.1016/j.jgg.2024.09.003","DOIUrl":"10.1016/j.jgg.2024.09.003","url":null,"abstract":"Chicken body weight (BW) is a critical trait in breeding. Although genetic variants associated with BW have been investigated by genome-wide association studies (GWAS), the contributions of causal variants and their molecular mechanisms remain largely unclear in chickens. In this study, we construct a comprehensive genetic atlas of chicken BW by integrative analysis of 30 age points and 5 quantitative trait loci (QTL) across 27 tissues. We find that chicken growth is a cumulative non-linear process, which can be divided into three distinct stages. Our GWAS analysis reveals that BW-related genetic variations show ordered patterns in these three stages. Genetic variations in chromosome 1 may regulate the overall growth process, likely by modulating the hypothalamus-specific expression of SLC25A30 and retina-specific expression of NEK3. Moreover, genetic variations in chromosome 4 and chromosome 27 may play dominant roles in regulating BW during Stage 2 (8-22 weeks) and Stage 3 (23-72 weeks), respectively. In summary, our study presents a comprehensive genetic atlas regulating developmental stage-specific changes in chicken BW, thus providing important resources for genomic selection in breeding programs.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1423-1434"},"PeriodicalIF":6.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301286","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 single-nucleotide polymorphism in PvPW1 encoding β-1,3-glucanase 9 is associated with pod width in Phaseolus vulgaris L. 编码 β-1,3-葡聚糖酶 9 的 PvPW1 的单核苷酸多态性与荚果宽度有关。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-12-01 Epub Date: 2024-10-09 DOI: 10.1016/j.jgg.2024.09.020

Kun Xu, Jinlong Zhu, Hong Zhai, Qiang Yang, Keqin Zhou, Qijian Song, Jing Wu, Dajun Liu, Yanhua Li, Zhengjun Xia

{"title":"A single-nucleotide polymorphism in PvPW1 encoding β-1,3-glucanase 9 is associated with pod width in Phaseolus vulgaris L.","authors":"Kun Xu, Jinlong Zhu, Hong Zhai, Qiang Yang, Keqin Zhou, Qijian Song, Jing Wu, Dajun Liu, Yanhua Li, Zhengjun Xia","doi":"10.1016/j.jgg.2024.09.020","DOIUrl":"10.1016/j.jgg.2024.09.020","url":null,"abstract":"Pod width influences pod size, shape, yield, and consumer preference in snap beans (Phaseolus vulgaris L.). In this study, we map PvPW1, a quantitative trait locus associated with pod width in snap beans, through genotyping and phenotyping of recombinant plants. We identify Phvul.006G072800, encoding the β-1,3-glucanase 9 protein, as the causal gene for PvPW1. The PvPW1G3555 allele is found to positively regulate pod width, as revealed by an association analysis between pod width phenotype and the PvPW1G3555C genotype across 17 bi-parental F2 populations. In total, 97.7% of the 133 wide pod accessions carry PvPW1G3555, while 82.1% of the 78 narrow pod accessions carry PvPW1C3555, indicating strong selection pressure on PvPW1 during common bean breeding. Re-sequencing data from 59 common bean cultivars identify an 8-bp deletion in the intron linked to PvPW1C3555, leading to the development of the InDel marker of PvM436. Genotyping 317 common bean accessions with PvM436 demonstrated that accessions with PvM436247 and PvM436227 alleles have wider pods compared to those with PvM436219 allele, establishing PvM436 as a reliable marker for molecular breeding in snap beans. These findings highlight PvPW1 as a critical gene regulating pod width and underscore the utility of PvM436 in marker-assisted selection for snap bean breeding.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1413-1422"},"PeriodicalIF":6.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142402025","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

Synchronized lineage tracing of cell membranes and nuclei by dual recombinases and dual fluorescent. 利用双重组酶和双荧光对细胞膜和细胞核进行同步系谱追踪。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-12-01 Epub Date: 2024-07-10 DOI: 10.1016/j.jgg.2024.07.006

Xueying Yang, Shun He, Xufeng Li, Zhihou Guo, Haichang Wang, Zhuonan Zhang, Xin Song, Ke Jia, Lingjuan He, Bin Zhou

{"title":"Synchronized lineage tracing of cell membranes and nuclei by dual recombinases and dual fluorescent.","authors":"Xueying Yang, Shun He, Xufeng Li, Zhihou Guo, Haichang Wang, Zhuonan Zhang, Xin Song, Ke Jia, Lingjuan He, Bin Zhou","doi":"10.1016/j.jgg.2024.07.006","DOIUrl":"10.1016/j.jgg.2024.07.006","url":null,"abstract":"Genetic lineage tracing has been widely employed to investigate cell lineages and fate. However, conventional reporting systems often label the entire cytoplasm, making it challenging to discern cell boundaries. Additionally, single Cre-loxP recombination systems have limitations in tracing specific cell populations. This study proposes three reporting systems utilizing Cre, Dre, and Dre+Cre mediated recombination. These systems incorporate tdTomato expression on the cell membrane and PhiYFP expression within the nucleus, allowing for clear observation of the nucleus and membrane. The efficacy of these systems is successfully demonstrated by labeling cardiomyocytes and hepatocytes. The potential for dynamic visualization of the cell membrane is showcased using intravital imaging microscopy or three-dimensional imaging. Furthermore, by combining this dual recombinase system with the ProTracer system, hepatocyte proliferation is traced with enhanced precision. This reporting system holds significant importance for advancing the understanding of cell fate studies in development, homeostasis, and diseases.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1474-1484"},"PeriodicalIF":6.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141602196","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

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model. 在斑马鱼模型中揭示的 RFC2 可能是威廉姆斯综合征的致病因素之一。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-12-01 Epub Date: 2024-10-04 DOI: 10.1016/j.jgg.2024.09.016

Ji-Won Park, Tae-Ik Choi, Tae-Yoon Kim, Yu-Ri Lee, Dilan Wellalage Don, Jaya K George-Abraham, Laurie A Robak, Cristina C Trandafir, Pengfei Liu, Jill A Rosenfeld, Tae Hyeong Kim, Florence Petit, Yoo-Mi Kim, Chong Kun Cheon, Yoonsung Lee, Cheol-Hee Kim

{"title":"RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.","authors":"Ji-Won Park, Tae-Ik Choi, Tae-Yoon Kim, Yu-Ri Lee, Dilan Wellalage Don, Jaya K George-Abraham, Laurie A Robak, Cristina C Trandafir, Pengfei Liu, Jill A Rosenfeld, Tae Hyeong Kim, Florence Petit, Yoo-Mi Kim, Chong Kun Cheon, Yoonsung Lee, Cheol-Hee Kim","doi":"10.1016/j.jgg.2024.09.016","DOIUrl":"10.1016/j.jgg.2024.09.016","url":null,"abstract":"Williams syndrome (WS) is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23, characterized by intellectual disability, distinctive craniofacial and dental features, and cardiovascular problems. Previous studies have explored the roles of individual genes within these microdeletions in contributing to WS phenotypes. Here, we report five patients with WS with 1.4 Mb-1.5 Mb microdeletions that include RFC2, as well as one patient with a 167-kb microdeletion involving RFC2 and six patients with intragenic variants within RFC2. To investigate the potential involvement of RFC2 in WS pathogenicity, we generate a rfc2 knockout (KO) zebrafish using CRISPR-Cas9 technology. Additionally, we generate a KO zebrafish of its paralog gene, rfc5, to better understand the functions of these RFC genes in development and disease. Both rfc2 and rfc5 KO zebrafish exhibit similar phenotypes reminiscent of WS, including small head and brain, jaw and dental defects, and vascular problems. RNA-seq analysis reveals that genes associated with neural cell survival and differentiation are specifically affected in rfc2 KO zebrafish. In addition, heterozygous rfc2 KO adult zebrafish demonstrate an anxiety-like behavior with increased social cohesion. These results suggest that RFC2 may contribute to the pathogenicity of WS, as evidenced by the zebrafish model.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1389-1403"},"PeriodicalIF":6.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11624490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ATN-161 alleviates caerulein-induced pancreatitis. ATN-161 可减轻钙调磷酸酶诱发的胰腺炎。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-12-01 Epub Date: 2024-10-11 DOI: 10.1016/j.jgg.2024.10.002

Rong-Rong Gao, Lan-Yue Ma, Jian-Wei Chen, Yu-Xiang Wang, Yu-Yan Li, Zi-Yuan Zhou, Zhao-Hua Deng, Jing Zhong, Ya-Hai Shu, Yang Liu, Qi Chen

{"title":"ATN-161 alleviates caerulein-induced pancreatitis.","authors":"Rong-Rong Gao, Lan-Yue Ma, Jian-Wei Chen, Yu-Xiang Wang, Yu-Yan Li, Zi-Yuan Zhou, Zhao-Hua Deng, Jing Zhong, Ya-Hai Shu, Yang Liu, Qi Chen","doi":"10.1016/j.jgg.2024.10.002","DOIUrl":"10.1016/j.jgg.2024.10.002","url":null,"abstract":"Pancreatitis is a common gastrointestinal disorder that causes hospitalization with significant morbidity and mortality. The mechanistic pathophysiology of pancreatitis is complicated, limiting the discovery of pharmacological intervention methods. Here, we show that the administration of ATN-161, an antagonist of Integrin-α5, significantly mitigates the pathological condition of acute pancreatitis induced by caerulein. We find that CK19-positive pancreatic ductal cells align parallel to blood vessels in the pancreas. In the caerulein-induced acute pancreatitis model, the newly emergent CK19-positive cells are highly vascularized, with a significant increase in vascular density and endothelial cell number. Single-cell RNA sequencing analysis shows that ductal and endothelial cells are intimate interacting partners, suggesting the existence of a ductal-endothelial interface in the pancreas. Pancreatitis dramatically reduces the crosstalk in the ductal-endothelial interface but promotes the Spp-1/Integrin-α5 signaling. Blocking this signaling with ATN-161 significantly reduces acinar-to-ductal metaplasia, pathological angiogenesis, and restores other abnormal defects induced by caerulein. Our work reveals the therapeutic potential of ATN-161 as an uncharacterized pharmacological method to alleviate the symptoms of pancreatitis.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1447-1458"},"PeriodicalIF":6.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481277","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

bmp10 maintains cardiac function by regulating iron homeostasis. bmp10 通过调节铁平衡维持心脏功能

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-12-01 Epub Date: 2024-10-14 DOI: 10.1016/j.jgg.2024.10.003

Ruiqin Hu, Genfang Li, Peng Hu, Hongbo Niu, Wenhao Li, Shouwen Jiang, Guijun Guan, Qianghua Xu, Mingli Liu, Liangbiao Chen

{"title":"bmp10 maintains cardiac function by regulating iron homeostasis.","authors":"Ruiqin Hu, Genfang Li, Peng Hu, Hongbo Niu, Wenhao Li, Shouwen Jiang, Guijun Guan, Qianghua Xu, Mingli Liu, Liangbiao Chen","doi":"10.1016/j.jgg.2024.10.003","DOIUrl":"10.1016/j.jgg.2024.10.003","url":null,"abstract":"Heart disease remains the leading cause of death worldwide. Iron imbalance, whether deficiency or overload, contributes to heart failure. However, the molecular mechanisms governing iron homeostasis in the heart are poorly understood. Here, we demonstrate that mutation of bmp10, a heart-born morphogen crucial for embryonic heart development, results in severe anemia and cardiac hypertrophy in zebrafish. Initially, bmp10 deficiency causes cardiac iron deficiency, which later progresses to iron overload due to the dysregulated hepcidin/ferroportin axis in cardiac cells, leading to ferroptosis and heart failure. Early iron supplementation in bmp10-/- mutants rescues erythropoiesis, while iron chelation in juvenile fishes significantly alleviates cardiac hypertrophy. We further demonstrate that the interplay between HIF1α-driven hypoxic signaling and the IL6/p-STAT3 inflammatory pathways is critical for regulating cardiac iron metabolism. Our findings reveal BMP10 as a key regulator of iron homeostasis in the vertebrate heart and highlight the potential of targeting the BMP10-hepcidin-iron axis as a therapeutic strategy for iron-related cardiomyopathy.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1459-1473"},"PeriodicalIF":6.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481278","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-to-G/C/T and C-to-T/G/A dual-function base editor for creating multi-nucleotide variants. A 到 G/C/T 和 C 到 T/G/A 双功能碱基编辑器，用于创建多核苷酸变体。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-12-01 Epub Date: 2024-10-25 DOI: 10.1016/j.jgg.2024.10.001

Bingxiu Ma, Han Wu, Shixue Gou, Meng Lian, Cong Xia, Kaiming Yang, Long Jin, Junyuan Liu, Yunlin Wu, Yahai Shu, Haizhao Yan, Zhanjun Li, Liangxue Lai, Yong Fan

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 : 2024-12-01 Epub 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":" ","pages":"1351-1360"},"PeriodicalIF":6.6,"publicationDate":"2024-12-01","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

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 : 2024-12-01 Epub 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

CtIP regulates G2/M transition and bipolar spindle assembly during mouse oocyte meiosis. CtIP调节小鼠卵母细胞减数分裂过程中的G2/M转换和双极纺锤体组装。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2024-12-01 Epub Date: 2024-09-12 DOI: 10.1016/j.jgg.2024.09.005

Wei Yue, Hong-Yong Zhang, Heide Schatten, Tie-Gang Meng, Qing-Yuan Sun

{"title":"CtIP regulates G2/M transition and bipolar spindle assembly during mouse oocyte meiosis.","authors":"Wei Yue, Hong-Yong Zhang, Heide Schatten, Tie-Gang Meng, Qing-Yuan Sun","doi":"10.1016/j.jgg.2024.09.005","DOIUrl":"10.1016/j.jgg.2024.09.005","url":null,"abstract":"CtBP-interacting protein (CtIP) is known for its multifaceted roles in DNA repair and genomic stability, directing the homologous recombination-mediated DNA double-stranded break repair pathway via DNA end resection, an essential error-free repair process vital for genome stability. Mammalian oocytes are highly prone to DNA damage accumulation due to prolonged G2/prophase arrest. Here, we explore the functions of CtIP in meiotic cell cycle regulation via a mouse oocyte model. Depletion of CtIP by siRNA injection results in delayed germinal vesicle breakdown and failed polar body extrusion. Mechanistically, CtIP deficiency increases DNA damage and decreases the expression and nuclear entry of CCNB1, resulting in marked impairment of meiotic resumption, which can be rescued by exogenous CCNB1 overexpression. Furthermore, depletion of CtIP disrupts microtubule-organizing centers coalescence at spindle poles as indicated by failed accumulation of γ-tubulin, p-Aurora kinase A, Kif2A, and TPX2, leading to abnormal spindle assembly and prometaphase arrest. These results provide valuable insights into the important roles of CtIP in the G2/M checkpoint and spindle assembly in mouse oocyte meiotic cell cycle regulation.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"1435-1446"},"PeriodicalIF":6.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301288","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