《生命科学》 2014, 26(10): 1032-1037

tRNA转录后修饰的功能及其与人类疾病的关系

周　觅1，2，刘如娟1*，王恩多1，3*

(1 中国科学院上海生命科学研究院，生物化学与细胞生物学研究所，分子生物学国家重点
    实验室，上海 200031；2 中国科学院大学，北京 100049；3 上海科技大学，上海 200031)

摘　要：摘　要：转移核糖核酸(tRNA) 的转录后修饰对tRNA 正常行使生物学功能具有重要意义，这些功能包括tRNA 的正确折叠和维持其稳定性、在核糖体上正确解码。虽然tRNA 转录后大部分核苷酸修饰形式在20世纪70 年代已被鉴定出，但最近才在大肠杆菌及酵母中鉴定出催化这些tRNA 核苷酸修饰的酶的绝大部分基因。这些修饰酶基因的鉴定为研究tRNA 转录后修饰的生物功能开启了新的大门。人胞质tRNA 和线粒体tRNA(mt tRNA) 都存在大量核苷酸修饰，这些修饰的缺陷常常与多种人类疾病相关。因此，研究tRNA核苷酸修饰有助于我们了解相关疾病的发病机理。

Function of posttranscriptional modifications of transfer RNAs and its relationship with human diseases    

ZHOU Mi1，2， LIU Ru-Juan1*， WANG En-Duo1，2*

(1 State Key Laboratory of Molecular Biology， Institute of Biochemistry and Cell Biology， Shanghai Institutes for Biological Sciences， Chinese Academy of Sciences， Shanghai 200031， China; 2 University of Chinese Acadeny of Sciences， Beijing 100049， China; 3 Shanghai Tech Universtiy， Shanghai 200031， China)

Abstract: Abstract: The posttranscriptional modifications of transfer RNA (tRNA) are critical for tRNA biological functions，including tRNA folding， stability and decoding. Most tRNA posttranscriptional modifications were discovered in the 1970s， however， the discovery of genes encoding the proteins for these tRNA posttranscriptional modifications has lagged behind. Until recently， the near complete map of tRNA modification enzymes genes was identified in both model organisms Saccharomyces cerevisiae and Escherichia coli. The discovery of these genes opens a new window for studying the biological functions of tRNA posttranscriptional modifications. There are a wide variety of posttranscriptional modifications in human cytoplasmic and mitochondrial tRNAs， and the defect of these modifications is often associated with human diseases. Therefore， the study of tRNA posttranscriptional modifications helps in understanding the pathogenesis of related human diseases.