Pre-mRNA splicing and retinitis pigmentosa

Mol Vis. 2006 Oct 26;12:1259-71.


Retinitis pigmentosa (RP) is a group of genetically and clinically heterogeneous retinal diseases and a common cause of blindness. Among the 12 autosomal dominant RP (adRP) genes identified, four encode ubiquitously expressed proteins involved in pre-mRNA splicing, demonstrating the important role that pre-mRNA splicing plays in the pathogenesis of retinal degeneration. This review focuses on recent progress in identifying adRP mutations in genes encoding pre-mRNA splicing factors and the potential underlying molecular mechanisms.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Humans
  • Neurodegenerative Diseases / genetics
  • RNA Precursors*
  • RNA Splicing*
  • Retinal Degeneration / genetics
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / pathology
  • Retinitis Pigmentosa / physiopathology


  • RNA Precursors