PDF(Pubmed)
Abstract：
Recent discoveries establish tRNAs as central regulators of mRNA translation dynamics, and therefore cotranslational folding and function of the encoded protein. The tRNA pool, whose composition and abundance change in a cell- and tissue-dependent manner, is the main factor which determines mRNA translation velocity. In this review, we discuss a group of pathogenic mutations, in the coding sequences of either protein-coding genes or in tRNA genes, that alter mRNA translation dynamics. We also summarize advances in tRNA biology that have uncovered how variations in tRNA levels on account of genetic mutations affect protein folding and function, and thereby contribute to phenotypic diversity in clinical manifestations.
摘要：
最近的发现确立了tRNA作为mRNA翻译动力学的中心调节因子，因此，编码蛋白质的共翻译折叠和功能。tRNA池，其组成和丰度以细胞和组织依赖性的方式变化，是决定mRNA翻译速度的主要因素。在这次审查中,我们讨论了一组致病突变，在蛋白质编码基因或tRNA基因的编码序列中，改变mRNA翻译动力学。我们还总结了tRNA生物学的进展，这些进展揭示了由于基因突变而导致的tRNA水平变化如何影响蛋白质折叠和功能。从而有助于临床表现的表型多样性。
