[关键词]
[摘要]
剪接因子(SFs)是一种蛋白质，是剪接体的动态复合体的一部分。剪接体就像“剪刀”一样，能够精确地加工真核生物中前mRNA(pre-mRNA)，形成多种mRNA序列，该过程对于基因调控和蛋白质表达十分重要。前mRNA加工因子31(PRPF31)是在生物组织中广泛表达的一种SFs，PRPF31突变会特异性地导致常染色体显性视网膜色素变性(adRP)，称为PRPF31-RP。目前PRPF31-RP的发病机制尚不清晰。文章从PRPF31突变或缺失导致组织和生物学过程受损的角度对PRPF31在adRP发生发展分子机制及该病治疗的研究进展做一综述，以期为PRPF31-RP的发病机制与防治的研究提供新的思路。
[Key word]
[Abstract]
Splicing factors(SFs)are a type of protein that serves as an integral component of the dynamic spliceosome complex. The spliceosome, similar to “scissors”, has the ability to accurately process precursor RNA(pre-mRNA)in eukaryotes and generate a diverse range of mRNA sequences. This process is important for gene regulation and protein expression. Pre-mRNA processing factor 31(PRPF31)is a widely expressed SFs in various biological tissues. However, mutations in PRPF31 are specifically linked to the development of autosomal dominant retinitis pigmentosa(adRP), known as PRPF31-RP. Currently, the pathogenesis of PRPF31-RP is still unclear. This article reviews the research progress on the molecular mechanism of PRPF31 in the development of adRP and the progress in PRPF31-RP treatment from the perspective of tissue damage and impairment of biological processes caused by PRPF31 mutation or deletion, in order to provide new ideas on the pathogenesis and treatment of PRPF31-RP.
[中图分类号]
[基金项目]
山东省医药卫生科技项目(No.202307021729)
