Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa
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.
Paola Benaglio, Terri L. McGee, Leonardo P. Capelli, Shyana Harper, Eliot L. Berson, Carlo Rivolta |Human Mutation: Mutation in Brief | Vol. 32 | 2246–E2258 | 2011 Feb 8
The gene SNRNP200 is composed of 45 exons and encodes a protein essential for pre- mRNA splicing, the 200 kDa helicase hBrr2. Two mutations in SNRNP200 have recently been associated with autosomal dominant retinitis pigmentosa (adRP), a retinal degenerative disease, in two families from China. In this work we analyzed the entire 35-Kb SNRNP200 genomic region in a cohort of 96 unrelated North American patients with adRP.
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