PT  - JOURNAL ARTICLE
AU  - Anna M Rose
AU  - Rong Luo
AU  - Utsav K Radia
AU  - Shomi S Bhattacharya
TI  - Gene of the month: <em>PRPF31</em>
AID  - 10.1136/jclinpath-2016-203971
DP  - 2017 Sep 01
TA  - Journal of Clinical Pathology
PG  - 729--732
VI  - 70
IP  - 9
4099  - http://jcp.bmj.com/content/70/9/729.short
4100  - http://jcp.bmj.com/content/70/9/729.full
SO  - J Clin Pathol2017 Sep 01; 70
AB  - 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.