Journal of Genetics and Genomics 2025年第2期(Volume 52, Issue 2, 2025) 在线发表，欢迎大家下载阅读。

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本期封面

Volume 52, Issue 2

On the cover: β-thalassemia is a common monogenic disorder. De-repression of γ-globin to compensate for β-globin deficiency represents a promising genetic therapy for β-thalassemia. Genome-wide association studies have identified transcription factors that drive γ-globin silencing in healthy adults with varying Hb F levels. In this issue, Luo et al. report that a previously unknown SNP, rs7948668, is significantly associated with higher Hb F levels and delays the disease onset (pp. 157–167). The cover image illustrates how the rs7948668 mutation (pink) disrupts the IKAROS binding motif, leading to the dissociation of the PYR Complex (purple). The altered spatial structure of the chromosome (transparent dome) enhances the competition of HBG promoters for locus control regions (red). As a result, γ-globin is activated (gold), ready to synthesize large amounts of fetal hemoglobin.

本期内容简介

Volume 52, Issue 2

Review

Epigenetic control of plant abiotic stress responses

Lijun Ma, Lihe Xing, Zicong Li, Danhua Jiang

https://doi.org/10.1016/j.jgg.2024.09.008

中国科学院遗传与发育生物学研究所姜丹华研究员团队发表综述论文，系统总结近年来表观遗传调控在植物非生物胁迫响应中的研究进展，介绍非生物胁迫诱导的植物表观遗传记忆，并展望未来潜在的研究方向和表观遗传调控在作物改良中的应用价值。

Improving regulatory T cell-based therapy: insights into post-translational modification regulation

Aiting Wang, Yanwen Wang, Rui Liang, Bin Li, Fan Pan

https://doi.org/10.1016/j.jgg.2024.09.014

中国科学院深圳先进技术研究院潘璠教授团队与上海交通大学医学院上海市免疫学研究所李斌研究员团队合作发表综述论文，总结Treg细胞发挥免疫抑制功能的主要机制，系统阐述蛋白质翻译后修饰调控Treg细胞稳定性和功能的研究进展，并讨论其在临床疾病治疗中的应用。通过干预这些翻译后修饰过程来调控Treg细胞的活性，有望为Treg细胞疗法在疾病中的临床应用开辟新方向。

Original Research

Activation of γ-globin expression by a common variant disrupting IKAROS-binding motif in β-thalassemia

Hualei Luo, Jueheng Wang, Lang Qin, Xinhua Zhang, Hailiang Liu, Chao Niu, Mengyang Song, Congwen Shao, Peng Xu, Miao Yu, Haokun Zhang, Yuhua Ye, Xiangmin Xu

https://doi.org/10.1016/j.jgg.2024.10.015

南方医科大学徐湘民教授团队发表研究论文，发现β-珠蛋白基因簇内常见变异rs7948668通过破坏IKAROS结合位点，激活γ-珠蛋白表达，从而有效减轻β-地中海贫血患者的临床表型，为β-地中海贫血治疗提供了新靶点。(封面论文)

OsbZIP27 coordinates with OsHUB1 and OsHUB2 to modulate drought tolerance in rice

Zuntao Xu, Yachun Yang, Fei Zhang, Hao Li, Hui Ma, Wenge Wu, Yong Ding

https://doi.org/10.1016/j.jgg.2024.11.016

中国科学技术大学丁勇教授和安徽省农业科学院功能基因开发团队合作发表研究论文，揭示了转录因子OsbZIP27蛋白协同组蛋白H2B单泛素化修饰因子OsHUB1/2调控水稻干旱耐受的分子机制，为培育耐旱水稻品种提供基因资源和育种思路。

Genome-wide association analysis reveals regulatory genes for the metabolite synthesis of 2-acetyl-1-pyrroline in aromatic coconut (Cocos nucifera L.)

Hao Ding, Xiang Lv, Guangzhen Zhou, Xiaomei Liu, Xiwei Sun, Jing Li, Amjad Iqbal, Yaodong Yang

https://doi.org/10.1016/j.jgg.2024.12.002

中国热带农业科学院椰子研究所杨耀东研究员团队发表研究论文，基于GWAS和单倍型分析鉴定到2AP代谢调控重要候选基因CnASN1，为高香型椰子育种提供了与2AP合成密切相关的分子标记。

TMEM39A and TMEM131 facilitate bulk transport of ECM proteins through large COPII vesicle formation

Jee Young Sung, Ga-Eun Lim, Jarim Goo, Kyung Jin Jung, Jeong Min Chung, Hyun Suk Jung, Yong-Nyun Kim, Jaegal Shim

https://doi.org/10.1016/j.jgg.2024.10.013

韩国国家癌症中心Jaegal Shim团队发表研究论文，揭示TMEM39A与TMEM131在秀丽隐杆线虫角质层形成过程中的重要作用，通过调控大COPII囊泡的形成参与细胞外基质蛋白的分泌，为人类TMEM39相关疾病的致病机制研究提供新见解。

Integrated analysis and systematic characterization of the regulatory network for human germline development

Yashi Gu, Jiayao Chen, Ziqi Wang, Qizhe Shao, Zhekai Li, Yaxuan Ye, Xia Xiao, Yitian Xiao, Wenyang Liu, Sisi Xie, Lingling Tong, Jin Jiang, Xiaoying Xiao, Ya Yu, Min Jin, Yanxing Wei, Robert S. Young, Lei Hou, Di Chen

https://doi.org/10.1016/j.jgg.2024.11.005

浙江大学陈迪研究员团队发表研究论文，构建了一个全面的人类原始生殖细胞数据库hPGCdb，包含RNA-seq、ATAC-seq、ChIP-seq、scRNA-seq等多组学高通量数据，基于体内与体外不同发育阶段的数据整合性分析，揭示了调控PGC发育的关键转录因子和调控网络，并进行有效性验证，为解析人类生殖系相关疾病靶点提供新思路。

Wnt2bb signaling promotes pharyngeal chondrogenic precursor proliferation and chondrocyte maturation by activating Yap expression in zebrafish

Xiaojuan Guo, Liping Yang, Yujie Wang, Mengna Yuan, Wenqing Zhang, Xinyu He, Qiang Wang

https://doi.org/10.1016/j.jgg.2024.11.006

华南理工大学医学院王强教授团队发表研究论文，揭示了Wnt2bb信号在咽部软骨发育过程中的重要作用，咽区外胚层来源的Wnt2bb信号通过经典Wnt/β-catenin通路激活Yap表达，促进咽部软骨前体细胞增殖和软骨细胞成熟。

Integrated analysis reveals that miR-548ab promotes the development of obesity and T2DM

Chongge Pan, Yali Hou, Yanting Hou, Ruizhen Wang, Meiyu Qian, Xue Bai, Maodi Liang, Jingzhou Wang, Jie Liu, Qianqian Wei, Ziyan Pan, Ting Wang, Chenyu Hu, Kun Xiang, Chun Yang, Cuizhe Wang, Hua Chen, Jun Zhang

https://doi.org/10.1016/j.jgg.2024.11.011

石河子大学新疆地方与民族高发病教育部重点实验室张君教授团队发表研究论文，揭示了脂肪组织源性的miR-548ab促进肥胖和T2DM的分子机制，为包含T2DM在内的临床常见葡萄糖代谢紊乱性疾病的预防和治疗提供有效靶标。

Resource

Genomic insights into demographic history, structural variation landscape, and complex traits from 514 Hu sheep genomes

Kaiyu Chen, Yuelang Zhang, Yizhe Pan, Xin Xiang, Chen Peng, Jiayi He, Guiqing Huang, Zhengguang Wang, Pengju Zhao

https://doi.org/10.1016/j.jgg.2024.11.015

浙江大学动物科学学院王争光/赵鹏举团队发表研究论文，解析了湖羊品种的选择信号和种群历史，并鉴定了湖羊结构变异的特征及其与多种复杂性状的关联，为保种和育种工作提供了参考。

PAMPHLET: PAM Prediction HomoLogous-Enhancement Toolkit for precise PAM prediction in CRISPR-Cas systems

Chen Qi, Xuechun Shen, Baitao Li, Chuan Liu, Lei Huang, Hongxia Lan, Donglong Chen, Yuan Jiang, Dan Wang

https://doi.org/10.1016/j.jgg.2024.10.014

北京师范大学-香港浸会大学联合国际学院王丹助理教授团队发表研究论文，开发CRISPR-Cas系统PAM序列预测新工具PAMPHLET (https://github.com/GolshkovQ/PAMPHLET)，该工具通过同源增强方法来扩展间隔子数据集，克服了现有工具处理有限间隔子序列数量时的局限性，从而显著提高PAM预测准确性，减少假阳性结果。

Research Communications

Improved chromosome-level donkey (Equus asinus) genome provides insights into genome and chromosome evolution

Ge Yang, Mian Gong, Qi-Meng Yang, Yi-Dan Li, Jafari Halima, Chu-Zhao Lei, Yu Jiang, Rui-Hua Dang

https://doi.org/10.1016/j.jgg.2024.11.002

西北农林科技大学动物基因组与基因功能团队党瑞华/姜雨团队发表研究论文，利用三代测序技术(PacBio HiFi)、Hi-C测序组装获得高质量染色体水平的家驴基因组，并探讨了驴的基因组和染色体演化，为未来驴功能基因组学和马属动物演化研究提供了重要参考基因组资源。