The role of splicing factors in retinitis pigmentosa: links to cilia

Biochem Soc Trans. 2021 Jun 30;49(3):1221-1231. doi: 10.1042/BST20200798.


Cilia are critical to numerous biological functions, both in development and everyday homeostatic processes. Diseases arising from genetic mutations that cause cilia dysfunction are termed ciliopathies. Several ubiquitously expressed splicing factors have been implicated in the condition Retinitis Pigmentosa (RP), a group of diseases characterised by the progressive degeneration of the retina. In many types of RP the disease affects the modified primary cilium of the photoreceptor cells and thus, these types of RP are considered ciliopathies. Here, we discuss sequence variants found within a number of these splicing factors, the resulting phenotypes, and the mechanisms underpinning disease pathology. Additionally, we discuss recent evidence investigating why RP patients with mutations in globally expressed splicing factors present with retina-specific phenotypes.

Keywords: U4/U6.U5 tri-snRNP; cilia; point mutations; retinitis pigmentosa; splicing factors.

Publication types

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

MeSH terms

  • Animals
  • Cilia / genetics*
  • Cilia / metabolism
  • Cilia / pathology
  • Ciliopathies / genetics*
  • Ciliopathies / metabolism
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Mutation*
  • RNA Precursors / genetics
  • RNA Precursors / metabolism
  • RNA Splicing
  • RNA Splicing Factors / genetics*
  • RNA Splicing Factors / metabolism
  • Retina / metabolism
  • Retina / pathology
  • Retinitis Pigmentosa / genetics*
  • Retinitis Pigmentosa / metabolism
  • Spliceosomes / genetics
  • Spliceosomes / metabolism


  • RNA Precursors
  • RNA Splicing Factors