Article Text

other Versions

PDF
Gene of the month: PRPF31
  1. Anna M Rose1,2,
  2. Rong Luo2,
  3. Utsav K Radia2,
  4. Shomi S Bhattacharya1
  1. 1Department of Genetics, UCL Institute of Ophthalmology, London, UK
  2. 2Department of Medicine, Imperial College, London, UK
  1. Correspondence to Dr Anna M Rose, Department of Genetics, UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK; anna.rose{at}ucl.ac.uk

Abstract

Pre-mRNA splicing is an essential process in eukaryotic cells where the transcribed intronic sequences are removed, prior to translation into protein. PRPF31 is a ubiquitously expressed splicing factor, which aids in the assembly of the macromolecular spliceosome. Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa (adRP), a form of retinal degeneration that causes progressive visual impairment. Interestingly, mutations in PRPF31 are non-penetrant, with some mutation carriers being phenotypically unaffected. In this review, the gene organisation, protein structure and biological function of PRPF31 are discussed, and the mechanisms of non-penetrance in PRPF31-associated adRP are discussed.

  • genetics
  • general
  • neurodegeneration

Statistics from Altmetric.com

Footnotes

  • Handling editor Runjan Chetty.

  • Contributors The manuscript was written and edited by AMR, RL, UR and SSB.

  • Competing interests None declared.

  • Provenance and peer review Commissioned; internally peer reviewed.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.