tRNAs are short noncoding RNAs required for protein translation. The human genome includes more than 600 putative tRNA genes, many of which are considered redundant. tRNA transcripts are subject to tightly controlled, multistep maturation processes that lead to the removal of flanking sequences and the addition of nontemplated nucleotides. Furthermore, tRNAs are highly structured and posttranscriptionally modified. Together, these unique features have impeded the adoption of modern genomics and transcriptomics technologies for tRNA studies. Nevertheless, it has become apparent from human neurogenetic research that many tRNA biogenesis proteins cause brain abnormalities and other neurological disorders when mutated. The cerebral cortex, cerebellum, and peripheral nervous system show defects, impairment, and degeneration upon tRNA misregulation, suggesting that they are particularly sensitive to changes in tRNA expression or function. An integrated approach to identify tRNA species and contextually characterize tRNA function will be imperative to drive future tool development and novel therapeutic design for tRNA-associated disorders.

中文翻译：

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tRNA代谢和神经发育障碍。

tRNA是蛋白质翻译所需的短非编码RNA。人类基因组包括600多个推定的tRNA基因，其中许多被认为是多余的。对tRNA转录物进行严格控制的多步成熟过程，从而导致侧翼序列的去除和非模板核苷酸的添加。此外，tRNA具有高度结构化和转录后修饰。总之，这些独特的功能阻碍了tRNA研究中采用现代基因组学和转录组学技术。然而，从人类神经遗传学研究中可以明显看出，许多tRNA生物发生蛋白在突变时会引起脑部异常和其他神经系统疾病。当tRNA调节异常时，大脑皮层，小脑和周围神经系统会出现缺陷，损伤和变性，提示它们对tRNA表达或功能的变化特别敏感。鉴定tRNA种类并在上下文中表征tRNA功能的综合方法对于推动tRNA相关疾病的未来工具开发和新颖治疗设计必不可少。