Towards understanding CRUMBS function in retinal dystrophies

Hum Mol Genet. 2006 Oct 15:15 Spec No 2:R235-43. doi: 10.1093/hmg/ddl195.

Abstract

Mutations in the Crumbs homologue 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (arRP) and autosomal Leber congenital amaurosis (arLCA). The crumbs (crb) gene was originally identified in Drosophila and encodes a large transmembrane protein required for maintenance of apico-basal cell polarity and adherens junction in embryonic epithelia. Human CRB1 and its two paralogues, CRB2 and CRB3, are highly conserved throughout the animal kingdom. Both in Drosophila and in vertebrates, the short intracellular domain of Crb/CRB organizes an evolutionary conserved protein scaffold. Several lines of evidence, obtained both in Drosophila and in mouse, show that loss-of-function of crb/CRB1 or some of its intracellular interactors lead to morphological defects and light-induced degeneration of photoreceptor cells, features comparable to those observed in patients lacking CRB1 function. In this review, we describe how understanding Crb complex function in fly and vertebrate retina enhances our knowledge of basic cell biological processes and might lead to new therapeutic approaches for patients affected with retinal dystrophies caused by mutations in the CRB1 gene.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Drosophila Proteins / genetics
  • Evolution, Molecular
  • Eye Diseases, Hereditary / genetics
  • Eye Proteins / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Optic Atrophy, Hereditary, Leber / genetics
  • Phylogeny
  • Retinal Degeneration / genetics*
  • Retinitis Pigmentosa / genetics
  • Sequence Homology, Amino Acid
  • Species Specificity

Substances

  • CRB1 protein, human
  • Crb1 protein, mouse
  • Drosophila Proteins
  • Eye Proteins
  • Membrane Proteins
  • Nerve Tissue Proteins
  • crb protein, Drosophila