Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa

J Biol Chem. 2001 Jun 22;276(25):22388-96. doi: 10.1074/jbc.M011710200. Epub 2001 Apr 10.

Abstract

Peripherin-2 and Rom-1 are homologous tetraspanning membrane proteins that assemble into noncovalent tetramers and higher order disulfide-linked oligomers implicated in photoreceptor disc morphogenesis. Individuals who coinherit a L185P peripherin-2 mutation and a null or G113E rom-1 mutation are afflicted with retinitis pigmentosa, whereas individuals who inherit only one defective gene are normal. We examined the expression, subunit assembly, and disulfide-mediated oligomerization of L185P and L185A peripherin-2 and L188P Rom-1 by velocity sedimentation, co-immunoprecipitation, and cross-linking. These mutants formed noncovalent dimers under disulfide-reducing conditions but failed to assemble into core tetramers. Under nonreducing conditions, L185P dimers formed disulfide-linked tetramers but not higher order oligomers. L185P coassembled with wild-type peripherin-2 and Rom-1 to form tetramers and higher order disulfide-linked oligomers characteristic of the wild-type proteins. The G113E Rom-1 mutant expressed 20-fold lower than wild-type Rom-1, indicating that it behaves mechanistically as a null allele. We conclude that Leu(185) of peripherin-2 (Leu(188) of Rom-1) is critical for tetramer but not dimer formation and that the core tetramer has 2-fold symmetry. Peripherin-2-containing tetramers are required for higher order disulfide-linked oligomer formation. The level of these oligomers is critical for stable photoreceptor disc formation and the digenic retinitis pigmentosa disease phenotype.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • COS Cells
  • Eye Proteins / genetics
  • Eye Proteins / physiology*
  • Genes, Dominant*
  • Homozygote*
  • Humans
  • Intermediate Filament Proteins / genetics
  • Intermediate Filament Proteins / physiology*
  • Membrane Glycoproteins*
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology*
  • Molecular Weight
  • Mutation*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology*
  • Peripherins
  • Retinitis Pigmentosa / genetics*
  • Tetraspanins

Substances

  • Eye Proteins
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • Peripherins
  • ROM1 protein, human
  • Tetraspanins