Sarin L Peter, Leidel Sebastian A
a Max Planck Institute for Molecular Biomedicine ; Münster , Germany.
RNA Biol. 2014;11(12):1555-67. doi: 10.4161/15476286.2014.992279.
Chemical RNA modifications are present in all kingdoms of life and many of these post-transcriptional modifications are conserved throughout evolution. However, most of the research has been performed on single cell organisms, whereas little is known about how RNA modifications contribute to the development of metazoans. In recent years, the identification of RNA modification genes in genome wide association studies (GWAS) has sparked new interest in previously neglected genes. In this review, we summarize recent findings that connect RNA modification defects and phenotypes in higher eukaryotes. Furthermore, we discuss the implications of aberrant tRNA modification in various human diseases including metabolic defects, mitochondrial dysfunctions, neurological disorders, and cancer. As the molecular mechanisms of these diseases are being elucidated, we will gain first insights into the functions of RNA modifications in higher eukaryotes and finally understand their roles during development.
化学RNA修饰存在于所有生命王国中，其中许多转录后修饰在整个进化过程中都是保守的。然而，大多数研究是在单细胞生物上进行的，而对于RNA修饰如何促进后生动物的发育却知之甚少。近年来，在全基因组关联研究（GWAS）中对RNA修饰基因的鉴定引发了对先前被忽视基因的新兴趣。在这篇综述中，我们总结了将RNA修饰缺陷与高等真核生物中的表型联系起来的最新发现。此外，我们讨论了异常tRNA修饰在各种人类疾病中的影响，包括代谢缺陷、线粒体功能障碍、神经疾病和癌症。随着这些疾病的分子机制被阐明，我们将首次深入了解RNA修饰在高等真核生物中的功能，并最终了解它们在发育过程中的作用。
