A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). |
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| Authors: | E N Vithana L Abu-Safieh M J Allen A Carey M Papaioannou C Chakarova M Al-Maghtheh N D Ebenezer C Willis A T Moore A C Bird D M Hunt S S Bhattacharya |
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| Institution: | Department of Molecular Genetics, Institute of Ophthalmology, University College London, ECIV 9EL, London, United Kingdom. |
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| 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. |
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