Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa

J Biol Chem. 2005 Jan 14;280(2):1284-91. doi: 10.1074/jbc.M406448200. Epub 2004 Oct 27.

Abstract

Autosomal dominant retinitis pigmentosa (ADRP) has been linked to mutations in the gene encoding rhodopsin. Most RP-linked rhodopsin mutants are unable to fold correctly in the endoplasmic reticulum, are degraded by the ubiquitin proteasome system, and are highly prone to forming detergent-insoluble high molecular weight aggregates. Here we have reported that coexpression of folding-deficient, but not folding-proficient, ADRP-linked rhodopsin mutants impairs delivery of the wild-type protein to the plasma membrane. Fluorescence resonance energy transfer and co-precipitation studies revealed that mutant and wild-type rhodopsins form a high molecular weight, detergent-insoluble complex in which the two proteins are in close (<70 A) proximity. Co-expression of ARDP-linked rhodopsin folding-deficient mutants resulted in enhanced proteasome-mediated degradation and steady-state ubiquitination of the wild-type protein. These data suggested a dominant negative effect on conformational maturation that may underlie the dominant inheritance of ARDP.

Publication types

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

MeSH terms

  • Cell Line
  • Genes, Dominant / genetics*
  • Glycosylation
  • Humans
  • Mutation / genetics*
  • Proteasome Endopeptidase Complex / metabolism
  • Protein Binding
  • Protein Processing, Post-Translational
  • Protein Transport
  • Retinitis Pigmentosa / enzymology
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / metabolism
  • Rhodopsin / genetics*
  • Rhodopsin / metabolism*
  • Ubiquitin / metabolism

Substances

  • Ubiquitin
  • Rhodopsin
  • Proteasome Endopeptidase Complex