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RNA修饰与人类疾病研究进展

Research progress of RNA modification and its association with human diseases

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【作者】 高纯纯管敏鑫何晓金昊金勇丰刘君罗慧曲慧儒谢珊珊杨运桂张锐张薪泞张艺凡周天华

【Author】 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 Yi Fan;ZHOU TianHua;Beijing Institute of Genomics,Chinese Academy of Sciences,China National Center for Bioinformation;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;Zhejiang University School of Medicine;National Key Laboratory of Advanced Drug Delivery and Release Systems,College of Life Science,Zhejiang University;State Key Laboratory of Protein and Plant Gene Research,School of Life Sciences,Peking-Tsinghua Center for Life Sciences,Peking University;School of Life Science,Sun Yat-sen University;

【通讯作者】 管敏鑫;金勇丰;刘君;杨运桂;张锐;周天华;

【机构】 中国科学院北京基因组研究所(国家生物信息中心)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浙江大学医学院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中山大学生命科学学院

【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~6A, m~5C, m~1A)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.

【Abstract】 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~6A, m~5C, and m~1A. 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
【Key words】 RNA modificationsRNA editingepigeneticsdiseasebiomarker
【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
  • 【文献出处】 中国科学:生命科学 ,Scientia Sinica(Vitae) , 编辑部邮箱 ,2023年11期
  • 【分类号】R363
  • 【下载频次】65
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