Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond
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, PRPF31, PAP1 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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