前体mRNA剪接因子基因突变与视网膜色素变性的研究进展  

Advances on mutations of pre-mRNA splicing factors and retinitis pigmentosa

作　　者：汪晓晨 邴子钰[1] 孔珺 WANG Xiaochen;BING Ziyu;KONG Jun(Department of Ophthalmology,the Fourth Affiliated Hospital of China Medical University,Shenyang 110005,China;Department of Ophthalmology,the Second Affiliated Hospital of Dalian Medical University,Dalian 116023,China)

机构地区：[1]中国医科大学附属第四医院眼科,辽宁沈阳110005 [2]大连医科大学附属第二医院眼科,辽宁大连116023

出　　处：《医学研究与教育》2023年第1期10-21,共12页Medical Research and Education

基　　金：辽宁省光复眼病防治基金会横向课题(2900020001)。

摘　　要：视网膜色素变性(retinitis pigmentosa,RP)是一种遗传性进行性视细胞损伤性疾病,具有基因型和表型异质性。目前已鉴定的RP致病基因达到103个,其中有一类基因(PRPF3、PRPF4、PRPF6、PRPF8、PRPF31、SNRNP200、RP9和DHX38)与前体mRNA剪接相关,该类基因全身广泛表达,但其突变后引起RP这种组织特异性表型疾病的机制目前尚不清楚。现汇总近年来国内外研究进展,介绍前体mRNA的剪接过程、前体mRNA剪接因子在剪接过程中的作用及前体mRNA剪接因子导致RP的疾病模型,并探讨前体mRNA剪接因子突变导致RP的致病机制。Retinitis pigmentosa(RP)is an inherited disease of progressive damage to visual cells with genotypic and phenotypic heterogeneity.Up to now,103 RP pathogenic genes have been identified,among which there is a type of genes(PRPF3,PRPF4,PRPF6,PRPF8,PRPF31,SNRNP200,RP9,and DHX38)that is related to pre-mRNA splicing.This type of genes is widely expressed throughout the body,but its mutation,the mechanism behind the disease that causes this tissue-specific phenotype of RP is currently unclear.This paper summarized the research progress in recent years,introduced the splicing process of pre-mRNA,the role of pre-mRNA splicing factors in the splicing process,and the disease model of RP caused by pre-mRNA splicing factors,and discussed the mutations of pre-mRNA splicing factors contribute to the pathogenic mechanism of RP.

关 键 词：视网膜色素变性 前体mRNA剪接因子 疾病模型 致病机制 

分 类 号：R774.1[医药卫生—眼科]