RNA修饰与人类疾病研究进展  

Research progress of RNA modification and its association with human diseases

作　　者：高纯纯 管敏鑫[2] 何晓[2] 金昊 金勇丰[5] 刘君 罗慧 曲慧儒 谢珊珊 杨运桂 张锐 张薪泞 张艺凡 周天华[3] GAO ChunChun;GUAN MinXin;HE Xiao;JIN Hao;JIN YongFeng;LIU Jun;LUO Hui;QU HuiRu;XIE ShanShan;YANG YunGui;ZHANG Rui;ZHANG XinNing;ZHANG YiFan&ZHOU TianHua(Beijing Institute of Genomics,Chinese Academy of Sciences,China National Center for Bioinformation,Beijing 100101,China;Zhejiang Provincial Key Laboratory of Genetic&Developmental Disorders,Center for Mitochondrial Biomedicine,the Fourth Affiliated Hospital,Zhejiang University School of Medicine,Institute of Genetics,School of Medicine,Zhejiang University,Hangzhou 310058,China;Zhejiang University School of Medicine,Hangzhou 310058,China;School of Life Science,Sun Yat-sen University,Guangzhou 510275,China;National Key Laboratory of Advanced Drug Delivery and Release Systems,College of Life Science,Zhejiang University,Hangzhou 310058,China;State Key Laboratory of Protein and Plant Gene Research,School of Life Sciences,Peking-Tsinghua Center for Life Sciences,Peking University,Beijing 100871,China)

机构地区：[1]中国科学院北京基因组研究所(国家生物信息中心),北京100101 [2]浙江大学医学院第四附属医院线粒体生物医学研究中心,浙江大学医学院遗传学研究所,浙江省遗传与发育障碍重点实验室,杭州310058 [3]浙江大学医学院,杭州310058 [4]中山大学生命科学学院,广州510275 [5]浙江大学生命科学学院,先进药物递释系统全国重点实验室,杭州310058 [6]北京大学生命科学学院,北大-清华生命联合中心,蛋白质与植物基因研究国家重点实验室,北京10087

出　　处：《中国科学：生命科学》2023年第11期1502-1526,共25页Scientia Sinica(Vitae)

基　　金：国家重点研发计划(批准号:2021YFE0114900);浙江大学上海高等研究院繁星科学基金(批准号:SN-ZJU-SIAS-009)资助。

摘　　要：转录后修饰广泛存在于各种RNA分子中.这种化学修饰可通过调控RNA剪接、翻译、运输、定位、稳定性等多种方式发挥生物学功能.近年来,高通量测序技术及化学生物学检测等技术的快速发展使多种RNA修饰(如m^(6)A,m^(5)C,m^(1)A)的准确鉴定和定位问题取得突破.RNA修饰与编辑作为一类新的表观转录生物标志物,在肿瘤、神经系统疾病、免疫性疾病等多种疾病的诊断和治疗中受到广泛关注.本文主要综述了RNA修饰与编辑的生物学功能以及参与蛋白调控的分子机制,并重点回顾了其在疾病诊疗中的应用进展.Post-transcriptional chemical modifications are prevalent in various RNA molecules and play a profound role in biological functions,including the regulation of RNA splicing,translation,transport,localization,and stability.Recent advancements in high-throughput sequencing and chemical modification detection technologies have facilitated significant breakthroughs in accurately identifying and localizing different RNA modifications,such as m^(6)A,m^(5)C,and m^(1)A.As a novel category of epigenetic transcriptional biomarkers,RNA modifications have garnered considerable attention in the diagnosis and treatment of numerous diseases,including tumors,neurological diseases and immunological diseases.This review aims to provide a comprehensive overview of the biological roles of RNA modification and editing,the underlying molecular mechanisms regulating protein expression and further highlight the progress in the application of RNA modification in disease diagnosis and treatment.

关 键 词：RNA修饰 RNA编辑 表观遗传学 疾病 生物标记物 

分 类 号：R363[医药卫生—病理学]