RNA-guided pseudouridylation, a widespread post-transcriptional RNA modification, has recently gained recognition for its role in cellular processes such as pre-mRNA splicing and the modulation of premature termination codon (PTC) readthrough. This review provides insights into its mechanisms, functions, and potential therapeutic applications. It examines the mechanisms governing RNA-guided pseudouridylation, emphasizing the roles of guide RNAs and pseudouridine synthases in catalyzing uridine-to-pseudouridine conversion. A key focus is the impact of RNA-guided pseudouridylation of U2 small nuclear RNA on pre-mRNA splicing, encompassing its influence on branch site recognition and spliceosome assembly. Additionally, the review discusses the emerging role of RNA-guided pseudouridylation in regulating PTC readthrough, impacting translation termination and genetic disorders. Finally, it explores the therapeutic potential of pseudouridine modifications, offering insights into potential treatments for genetic diseases and cancer and the development of mRNA vaccine.

中文翻译：

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假尿苷化介导的基因表达调节

RNA 引导的假尿苷化是一种广泛的转录后 RNA 修饰，最近因其在前 mRNA 剪接和过早终止密码子 (PTC) 通读调节等细胞过程中的作用而得到认可。这篇综述提供了对其机制、功能和潜在治疗应用的见解。它研究了 RNA 引导的假尿苷化的机制，强调了引导 RNA 和假尿苷合酶在催化尿苷到假尿苷转化中的作用。重点关注 U2 小核 RNA 的 RNA 引导的假尿苷化对前 mRNA 剪接的影响，包括其对分支位点识别和剪接体组装的影响。此外，该综述还讨论了 RNA 引导的假尿苷化在调节 PTC 通读、影响翻译终止和遗传性疾病方面的新作用。最后，它探讨了假尿苷修饰的治疗潜力，为遗传性疾病和癌症的潜在治疗以及 mRNA 疫苗的开发提供了见解。