酵母前体mRNA剪接基因PRP31的一个人类同源基因，是19号染色体q13.4区域常染色体显性视网膜色素变性（RP11）的致病基础。

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).

作者信息

Vithana E N, Abu-Safieh L, Allen M J, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer N D, Willis C, Moore A T, Bird A C, Hunt D M, Bhattacharya S S

机构信息

Department of Molecular Genetics, Institute of Ophthalmology, University College London, ECIV 9EL, London, United Kingdom.

出版信息

Mol Cell. 2001 Aug;8(2):375-81. doi: 10.1016/s1097-2765(01)00305-7.

DOI:10.1016/s1097-2765(01)00305-7

PMID:11545739

Abstract

We report mutations in a gene (PRPF31) homologous to Saccharomyces cerevisiae pre-mRNA splicing gene PRP31 in families with autosomal dominant retinitis pigmentosa linked to chromosome 19q13.4 (RP11; MIM 600138). A positional cloning approach supported by bioinformatics identified PRPF31 comprising 14 exons and encoding a protein of 499 amino acids. The level of sequence identity to the yeast PRP31 gene indicates that PRPF31 is also likely to be involved in pre-mRNA splicing. Mutations that include missense substitutions, deletions, and insertions have been identified in four RP11-linked families and three sporadic RP cases. The identification of mutations in a pre-mRNA splicing gene implicates defects in the splicing process as a novel mechanism of photoreceptor degeneration.

摘要

我们报告了与酿酒酵母前体mRNA剪接基因PRP31同源的一个基因（PRPF31）中的突变，这些突变存在于与19q13.4染色体连锁的常染色体显性遗传性视网膜色素变性（RP11；MIM 600138）家族中。一种由生物信息学支持的定位克隆方法鉴定出PRPF31由14个外显子组成，编码一个含499个氨基酸的蛋白质。与酵母PRP31基因的序列同一性水平表明PRPF31也可能参与前体mRNA剪接。在四个与RP11连锁的家族和三个散发性视网膜色素变性病例中鉴定出了包括错义替换、缺失和插入在内的突变。在前体mRNA剪接基因中发现突变表明剪接过程中的缺陷是光感受器退化的一种新机制。