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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.

Original publication




Journal article


Journal of clinical pathology

Publication Date





729 - 732


Department of Genetics, UCL Institute of Ophthalmology, London, UK.


Retina, Humans, Retinitis Pigmentosa, Genetic Predisposition to Disease, Eye Proteins, Genetic Markers, Heredity, Phenotype, Penetrance, Mutation, Vision, Ocular