Journal of Genetics and Genomics最新文献_第6页

High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China. 下一代测序预防地中海贫血的高效率：中国两个中心的真实世界队列研究。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-05 DOI: 10.1016/j.jgg.2025.04.018

Jinman Zhang, Wenqian Zhang, Haoqing Zhang, Aiqi Cai, Caiyun Li, Ling Liu, Jufang Tan, Yang Yang, Wen Yuan, Jing He, Shiping Chen, Yingli Cao, Yan Zhang, Jie Zhang, Rui Zhou, Shuai Hou, Dongqun Huang, Danjing Chen, Zhiyu Peng, Dongzhu Lei, Baosheng Zhu

{"title":"High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.","authors":"Jinman Zhang, Wenqian Zhang, Haoqing Zhang, Aiqi Cai, Caiyun Li, Ling Liu, Jufang Tan, Yang Yang, Wen Yuan, Jing He, Shiping Chen, Yingli Cao, Yan Zhang, Jie Zhang, Rui Zhou, Shuai Hou, Dongqun Huang, Danjing Chen, Zhiyu Peng, Dongzhu Lei, Baosheng Zhu","doi":"10.1016/j.jgg.2025.04.018","DOIUrl":"10.1016/j.jgg.2025.04.018","url":null,"abstract":"The occurrence of severe thalassemia, an inherited blood disorder that is either blood-transfusion-dependent or fatal, can be mitigated through carrier screening. Here, we aim to evaluate the effectiveness and outcomes of pre-conceptional and early pregnancy screening initiatives for severe thalassemia prevention in a diverse population of 28,043 women. Using next-generation sequencing (NGS), we identify 4,226 (15.07%) thalassemia carriers across 29 ethnic groups and categorize them into high- (0.75%), low- (25.86%), and unknown-risk (69.19%) groups based on their spouses' screening results. Post-screening follow-up reveals 59 fetuses with severe thalassemia exclusively in high-risk couples, underscoring the efficacy of risk classification. Among 25,053 live births over 6 months of age, two severe thalassemia infants were born to unknown-risk couples, which was attributed to incomplete screening and late NGS-based testing for a rare variant. Notably, 64 rare variants are identified in 287 individuals, highlighting the genetic heterogeneity of thalassemia. We also observe that migrant flow significantly impacts carrier rates, with 93.90% of migrants to Chenzhou originating from high-prevalence regions in southern China. Our study demonstrates that NGS-based screening during pre-conception and early pregnancy is effective for severe thalassemia prevention, emphasizing the need for continuous screening efforts in areas with high and underestimated prevalence.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045459","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

Evolutionary divergence on the Qinghai-Tibet Plateau: How life-history traits shape the diversity of plateau zokor and pika populations. 青藏高原的进化分化：生活史特征如何塑造高原鼢鼠和鼠兔种群的多样性。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-05 DOI: 10.1016/j.jgg.2025.04.019

Yunyang Wei, Tao Zhang, Zifeng Li, Qinyang Hua, Liduo Yin, Menglong Lei, Shilei Zhao, Shanshan Gu, Xin Zhang, Hao He, Xuemei Lu

{"title":"Evolutionary divergence on the Qinghai-Tibet Plateau: How life-history traits shape the diversity of plateau zokor and pika populations.","authors":"Yunyang Wei, Tao Zhang, Zifeng Li, Qinyang Hua, Liduo Yin, Menglong Lei, Shilei Zhao, Shanshan Gu, Xin Zhang, Hao He, Xuemei Lu","doi":"10.1016/j.jgg.2025.04.019","DOIUrl":"10.1016/j.jgg.2025.04.019","url":null,"abstract":"Understanding how species diverge and adapt is fundamental to unraveling biodiversity. While environmental impacts on species evolution are well-documented, the roles of intrinsic life-history traits remain underexplored. The Qinghai-Tibet Plateau, with its harsh conditions and unique biodiversity, offers a natural laboratory for such investigations. Here, we examined two sympatric small mammals-the solitary, low-dispersal plateau zokor (Eospalax baileyi) and the social, high-dispersal plateau pika (Ochotona curzoniae)-to elucidate how life-history traits shape population structures and adaptive strategies. Through whole-genome sequencing and cardiac-blood phenotype analyses, we reveal striking differences in their evolutionary trajectories. Despite enduring similar environmental pressures, plateau zokor populations exhibit pronounced genetic subdivisions, high inbreeding, and distinct local adaptations. In contrast, plateau pika populations display genetic panmixia, widespread diversity, and adaptive uniformity. Demographic inference highlights plateau zokors experienced severe population bottlenecks and restricted gene flow during glacial periods, underscoring the impact of dispersal capacity on evolutionary outcomes. Our findings demonstrate that intrinsic biological traits, particularly dispersal ability, fundamentally influence genetic architecture, population connectivity, and local adaptation. This study not only provides empirical evidence of how life-history traits shape evolutionary dynamics but also offers a framework for integrating intrinsic and extrinsic factors in understanding biodiversity formation.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026842","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

Corrigendum to "PI3K/Akt/mTOR signaling orchestrates the phenotypic transition and chemo-resistance of small cell lung cancer" [J. Genet. Genom. (2021) 48, 640-651]. “PI3K/Akt/mTOR信号调控小细胞肺癌的表型转变和化疗耐药性”的更正[j].遗传与基因组学杂志（2021）48,640-651。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-03 DOI: 10.1016/j.jgg.2025.04.021

Xuefeng Li, Cheng Li, Chenchen Guo, Qiqi Zhao, Jiayu Cao, Hsin-Yi Huang, Meiting Yue, Yun Xue, Yujuan Jin, Liang Hu, Hongbin Ji

引用次数: 0

Oncogenic Ras, Yki and Notch signals converge to confer clone competitiveness through Upd2. 致癌的Ras、Yki和Notch信号通过Upd2汇聚，赋予克隆竞争力。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-02 DOI: 10.1016/j.jgg.2025.04.017

Ying Wang, Rui Huang, Minfeng Deng, Jingjing He, Mingxi Deng, Toyotaka Ishibashi, Cong Yu, Zongzhao Zhai, Yan Yan

{"title":"Oncogenic Ras, Yki and Notch signals converge to confer clone competitiveness through Upd2.","authors":"Ying Wang, Rui Huang, Minfeng Deng, Jingjing He, Mingxi Deng, Toyotaka Ishibashi, Cong Yu, Zongzhao Zhai, Yan Yan","doi":"10.1016/j.jgg.2025.04.017","DOIUrl":"10.1016/j.jgg.2025.04.017","url":null,"abstract":"Cell competition is an evolutionarily ancient mechanism that functions to remove unfit or dangerous clonal cells in a multicellular community. A classical model is the removal of polarity-deficient clones, such as the precancerous scribble (scrib) mutant clones, in Drosophila imaginal discs. The activation of Ras, Yki, or Notch signaling robustly reverses the scrib mutant clonal fate from elimination to tumorous growth. Whether these signals converge to adopt a common mechanism to overcome the elimination pressure posed by cell competition remains unclear. Using single-cell transcriptomics, we find that a critical converging point downstream of Ras, Yki, and Notch signals is the upregulation of Upd2, an IL-6 family cytokine. Overexpression of Upd2 is sufficient to rescue the scrib mutant clones from elimination. Depletion of Upd2 blocks the growth of the scrib mutant clones with active Ras, Yki, and Notch signals. Moreover, Upd2 overexpression promotes robust intestinal stem cell (ISC) proliferation, while Upd2 is intrinsically required in ISCs for the growth of the adult intestine. Together, these results identify Upd2 as a crucial cell fitness factor that sustains tissue growth but can potentiate tumorigenesis when deregulated.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":""},"PeriodicalIF":6.6,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006426","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

Near-gapless telomere-to-telomere reference nuclear genome and variable mitochondrial genome of Amborella trichopoda. 近无间隙端粒-端粒参考核基因组和可变线粒体基因组。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-02 DOI: 10.1016/j.jgg.2025.04.016

Zhonglong Guo, Jing-Fang Guo, Zhi-Yan Wei, Ren-Gang Zhang, Scott McMahan, Shuai Nie, Xue-Mei Yan, Shan-Shan Zhou, Quan-Zheng Yun, Jia-Yi Wu, Jing Ge, Yong Yang, Jia-Yu Xue, Jian-Feng Mao

引用次数: 0

IGF-1-mediated upregulation of gut Blautia correlates with inflammatory markers in growth hormone-secreting pituitary adenomas. igf -1介导的肠道Blautia上调与激素分泌垂体腺瘤中的炎症标志物相关。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-02 DOI: 10.1016/j.jgg.2025.04.015

Zekun Deng, Siyu Chen, Yong She, Yunzhi Zou, Zeming Yan, Jintong Cheng, Guanghao Yue, Depei Li, Qi Zhao, Xia Zhao, Xiaobing Jiang

引用次数: 0

The Cys2/His2 type zinc finger protein TaZFP21 functions as a repressor of drought response in wheat. Cys2/His2型锌指蛋白TaZFP21在小麦干旱响应中起抑制作用。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-01 Epub Date: 2025-03-18 DOI: 10.1016/j.jgg.2025.03.007

Yongliang Li, Zhenbing Ma, Ming Yu, Qiannan Wang, You Li, Shunxing Ye, Wenjun Xiao, Shuai Jiang, Xiaoxiao Zou, Hude Mao, Xinhong Guo

引用次数: 0

Znf706 regulates germ plasm assembly and primordial germ cell development in zebrafish. Znf706调控斑马鱼生殖质的组装和原始生殖细胞的发育。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-01 Epub Date: 2024-11-20 DOI: 10.1016/j.jgg.2024.11.007

Weiying Zhang, Yaqi Li, Han Li, Xin Liu, Tao Zheng, Guangyuan Li, Boqi Liu, Tong Lv, Zihang Wei, Cencan Xing, Shunji Jia, Anming Meng, Xiaotong Wu

{"title":"Znf706 regulates germ plasm assembly and primordial germ cell development in zebrafish.","authors":"Weiying Zhang, Yaqi Li, Han Li, Xin Liu, Tao Zheng, Guangyuan Li, Boqi Liu, Tong Lv, Zihang Wei, Cencan Xing, Shunji Jia, Anming Meng, Xiaotong Wu","doi":"10.1016/j.jgg.2024.11.007","DOIUrl":"10.1016/j.jgg.2024.11.007","url":null,"abstract":"The cell fate of primordial germ cell (PGC) in zebrafish is pre-determined by maternally deposited germ plasm, which is packaged into ribonucleoprotein complex in oocytes and inherited into PGC-fated cells in embryos. However, the maternal factors regulating the assembly of germ plasm and PGC development remain poorly understood. In this study, we report that the maternal transcription factor Znf706 regulates the assembly of germ plasm factors into a granule-like structure localized perinuclearly in PGC during migration. Maternal and zygotic mutants of znf706 exhibit deficient germ plasm scattering at the early embryonic stage, decreased PGC numbers with some mislocation during PGC migration, and a lower female ratio in adulthood. Notably, the implementation of Znf706 CUT&Tag and RNA-seq on immature oocytes uncovers that Znf706 in stage I oocytes may promote transcription of several mitochondrial genes in addition to other functions. Hence, we propose that Znf706 is implicated in germ plasm assembly and PGC development in zebrafish.","PeriodicalId":54825,"journal":{"name":"Journal of Genetics and Genomics","volume":" ","pages":"666-679"},"PeriodicalIF":6.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689698","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

Identification and functional characterization of pathogenic FOXI3 variants in craniofacial microsomia. 颅面小畸形致病性FOXI3变异的鉴定和功能特征。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-01 Epub Date: 2025-03-01 DOI: 10.1016/j.jgg.2025.02.010

Xin Chen, Ying Chen, Chenlong Li, Run Yang, Yiyuan Chen, Tianyu Zhang, Yaying Zhu, Jing Ma

引用次数: 0

A critical evaluation of deep-learning based phylogenetic inference programs using simulated datasets. 使用模拟数据集对基于深度学习的系统发育推断程序进行关键评估。

IF 6.6 2区生物学

Journal of Genetics and Genomics Pub Date : 2025-05-01 Epub Date: 2025-01-15 DOI: 10.1016/j.jgg.2025.01.006

Yixiao Zhu, Yonglin Li, Chuhao Li, Xing-Xing Shen, Xiaofan Zhou

引用次数: 0