Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications.
Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications.
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DOI：
10.1111/febs.15736
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发表时间：
2021-12
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
--
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TRNA分子被tRNA修饰酶转录后修饰。尽管由不同的化学成分组成，但人类tRNA修饰的40多种类型通过调节tRNA的结构和稳定性以及解码mRNA上的遗传信息在蛋白质合成中发挥关键作用。许多tRNA修饰在所有三个生命王国中都是保守的，各种人类tRNA修饰酶的异常会导致危及生命的疾病。这里，我们将tRNA修饰中的异常引起的疾病和障碍描述为tRNA modopathies(TRNA Modopathies)。超过50种tRNA修饰酶的异常与tRNA病态有关，最常见的表现为脑和/或肾脏功能障碍、线粒体疾病和癌症。然而，将tRNA异常修饰与人类疾病联系起来的分子机制在很大程度上是未知的。本文对人类tRNA修饰功能、tRNA修饰酶基因和tRNA病态进行了综述，并对几种tRNA病态的致病机制进行了综述。我们还将讨论需要解决的重要问题，以了解tRNA病态的分子发病机制。人类tRNA被40多种化学修饰(tRNA修饰)装饰，这些修饰是由70多种已识别的酶合成的。TRNA修饰在蛋白质翻译中起着关键作用，50多种修饰酶的异常会导致疾病，这里统称为tRNA病态。这篇综述提供了人类tRNA修饰、酶和tRNA病态的综合清单，并讨论了需要解决的重要问题，以了解分子发病机制。
tRNA molecules are post‐transcriptionally modified by tRNA modification enzymes. Although composed of different chemistries, more than 40 types of human tRNA modifications play pivotal roles in protein synthesis by regulating tRNA structure and stability as well as decoding genetic information on mRNA. Many tRNA modifications are conserved among all three kingdoms of life, and aberrations in various human tRNA modification enzymes cause life‐threatening diseases. Here, we describe the class of diseases and disorders caused by aberrations in tRNA modifications as ‘tRNA modopathies’. Aberrations in over 50 tRNA modification enzymes are associated with tRNA modopathies, which most frequently manifest as dysfunctions of the brain and/or kidney, mitochondrial diseases, and cancer. However, the molecular mechanisms that link aberrant tRNA modifications to human diseases are largely unknown. In this review, we provide a comprehensive compilation of human tRNA modification functions, tRNA modification enzyme genes, and tRNA modopathies, and we summarize the elucidated pathogenic mechanisms underlying several tRNA modopathies. We will also discuss important questions that need to be addressed in order to understand the molecular pathogenesis of tRNA modopathies. Human tRNAs are decorated with over 40 chemical modifications (tRNA modifications), which are synthesized by more than 70 identified enzymes. tRNA modifications play pivotal roles in protein translation, and aberration of over 50 modification enzymes causes diseases, collectively termed here as ‘tRNA modopathies’. This review provides comprehensive lists of human tRNA modifications, enzymes, and tRNA modopathies, and discusses important questions that need to be addressed to understand molecular pathogenesis.
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影响因子：
14.9
作者：
Chan PP;Lowe TM
通讯作者：
Lowe TM
DOI：
10.1261/rna.056259.116
发表时间：
2016-09
期刊：
RNA (New York, N.Y.)
影响因子：
--
作者：
Arimbasseri AG;Iben J;Wei FY;Rijal K;Tomizawa K;Hafner M;Maraia RJ
通讯作者：
Maraia RJ
影响因子：
9.8
作者：
Bar-Yaacov D;Frumkin I;Yashiro Y;Chujo T;Ishigami Y;Chemla Y;Blumberg A;Schlesinger O;Bieri P;Greber B;Ban N;Zarivach R;Alfonta L;Pilpel Y;Suzuki T;Mishmar D
通讯作者：
Mishmar D
影响因子：
16
作者：
Begley, Ulrike;Dyavaiah, Madhu;Begley, Thomas J.
通讯作者：
Begley, Thomas J.
影响因子：
9.8
作者：
Bykhovskaya, Y;Casas, K;Fischel-Ghodsian, N
通讯作者：
Fischel-Ghodsian, N