RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases

Ophthalmic Genet. 2007 Mar;28(1):31-7. doi: 10.1080/13816810701202052.

Abstract

Many genes from retinoid metabolism cause retinitis pigmentosa. Peropsin, an opsin-like protein with unknown function, is specifically expressed in apical retinal pigment epithelium microvilli. Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to screen for the peropsin gene RRH in 331 patients (288 with retinitis pigmentosa and 82 with other retinal dystrophies). We found 13 nonpathogenic variants only, among which a c.730_731delATinsG that truncates the last two transmembrane-spanning fragments and the Lys284 required for retinol binding, but does not segregate with the disease phenotype. We conclude that RRH is not a frequent gene in retinitis pigmentosa.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Case-Control Studies
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics*
  • Retinal Degeneration / genetics*
  • Retinitis Pigmentosa / genetics*
  • Rhodopsin / genetics*
  • Sequence Homology, Nucleic Acid

Substances

  • RRH protein, human
  • Rhodopsin