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视网膜色素变性(RP)是临床上常见的一组遗传性视网膜变性疾病,并具有显著的遗传异质性.前体mRNA(pre-mRNA)的剪接是指在剪接体的催化作用下,将基因初始mRNA中的内含子去掉并将外显子拼接的过程.在目前已发现的80多个RP致病基因中,有8个(PRPF3、PRPF8、PRPF31、PRPF6、PRPF4、SNRNP200、RP9和DHX38)在全身广泛表达并与前体mRNA剪接相关,然而这些基因突变只引起眼部病变的机制尚不清楚.本文介绍了pre-mRNA的剪接过程,总结了与RP相关的pre-mRNA的基因突变和8种剪接基因在剪接过程中的作用,并探讨相关基因突变仅引起眼部病变的机制.“,”Retinitis pigmentosa (RP),one of the common forms of hereditary retinal dystrophies (HRD),is typified by significant genetic heterogeneities.Executed by the spliceosome,precursor mRNA (pre-mRNA) splicing is a highly regulated process by which introns are removed and exons are ligated together.To date,more than 80 genes have been involved in RP etiology.Specially,8 of these genes (PRPF3,PRPF8,PRPF31,PRPF6,PRPF4,SNRNP200,RP9 and DHX38) encode proteins essential for pre-mRNA splicing and are expressed ubiquitously.However,mutations of these RP causative pre-mRNA splicing genes exclusively result in only retinal phenotypes,and the mechanism remains unknown.In this review,we recapitulate splicing process,summarize the mutations identified in pre-mRNA splicing genes related to RP and discuss conceivable hypothesis explaining for the consequent retinaspecific phenotypes.