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

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


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Animals
  • Chromosomes, Human, Pair 19
  • Cloning, Molecular
  • Computational Biology
  • Fungal Proteins / chemistry
  • Fungal Proteins / genetics*
  • Fungal Proteins / metabolism*
  • Fungal Proteins / physiology
  • Genetic Linkage
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics
  • Pedigree
  • Physical Chromosome Mapping
  • RNA Splicing / genetics*
  • Retinitis Pigmentosa / genetics*
  • Saccharomyces cerevisiae / genetics*
  • Saccharomyces cerevisiae Proteins*
  • Sequence Alignment
  • Spliceosomes


  • Fungal Proteins
  • PRP31 protein, S cerevisiae
  • Saccharomyces cerevisiae Proteins

Associated data

  • GENBANK/AC009968
  • GENBANK/AC012314
  • GENBANK/AF069627
  • GENBANK/AL050369
  • GENBANK/T00269