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Review
Gene of the month: PRPF31
  1. Anna M Rose1,2,
  2. Rong Luo2,
  3. Utsav K Radia2,
  4. Shomi S Bhattacharya1
  1. 1 Department of Genetics, UCL Institute of Ophthalmology, London, UK
  2. 2 Department 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

https://doi.org/10.1136/jclinpath-2016-203971

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    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.