PRPF31

Disease Category: autosomal dominant

Patient Population: 

Active Clinical Trials: 1 recruiting

Treatment Options: 

Strategies to Preserve Eye Health: 

Institution(s) Conducting Research: Oslo University Hospital

A FACE OF RP

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IN THE NEWS

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa

Daniel Mordes, Liya Yuan, Lili Xu, Mariko Kawada, Robert S. Molday, Jane Y. Wu |National Library of Medicine | 2007 March 9 | Vol. 26, Issue 2 | 291–300 | doi:10.1016/j.nbd.2006.08.026

PRPF31 mutations cause photoreceptor loss and retinal degeneration. This finding prompted us to test the hypothesis that PRPF31 may play a critical role for pre-mRNA splicing of retina-specific genes. . . . Among the potential target genes identified by this approach are a number of retina-specific genes involved in phototransduction, the visual cycle, photoreceptor structure, transcription factors and other genes important for photoreceptor survival and function (Table 1). [Table 1 lists SNRNP.]

Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa

Jun Yin, Jan Brocher, Utz Fischer, Christoph Winkler 

| Molecular Neurodegeneration | Vol. 6, Issue 56 | 2011 | doi.org/10.1186/1750-1326-6-56

RP mutations have also been identified in a group of housekeeping genes that are involved in pre-mRNA splicing and represent the second-largest contribution to RP after mutations in rhodopsin. These genes include PRPF3, PRPF8, PRPF31PAP1 and SNRN200. All these genes encode core components of the U4/U6.U5 tri-snRNP complex which constitutes a major building block of the pre-mRNA processing spliceosome.

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