癌症中的剪接因子突变

Splicing factor mutations in cancer

前体mRNA剪接是真核生物基因表达的关键步骤,剪接调控是一个高度复杂的过程。通过选择性剪接,单个基因能够产生多个不同功能的RNA和蛋白质亚型。RNA剪接调控具有重要的生物学功能,剪接异常是导致人类遗传疾病的主要原因之一。越来越多的研究表明,剪接异常与肿瘤发生发展及治疗紧密关联,已成为肿瘤生物学及肿瘤遗传领域的研究热点。本综述简要介绍了RNA剪接调控机制、剪接异常与癌症的关联,重点总结了癌症中高频率突变剪接因子的研究进展,并探讨了靶向RNA剪接异常的癌症治疗策略。

Pre-mRNA splicing is a key step in eukaryotic gene expression.Splicing regulation is a highly complex and dynamic process.Via alternative splicing,a single gene can produce multiple RNA and protein isoforms with different functions.RNA splicing regulation has significant biological functions,and aberrant splicing is one of the main causes of human genetic diseases.A rapidly growing number of studies have revealed that aberrant splicing is closely associated with tumor development,progression and treatment,and thus emerging as a new research direction in the field of cancer biology and cancer genetics.In this review,we briefly introduced the regulatory mechanism of RNA splicing and the association between the aberrant splicing and cancer,and emphasized the research progress of frequently mutated splicing factors in cancer.We also discussed the strategies of targeting aberrant RNA splicing for cancer treatment.