Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa
Molecular Neurodegeneration（2011）
Abstract
Retinitis pigmentosa (RP) is an inherited eye disease characterized by the progressive degeneration of rod photoreceptor cells. Mutations in pre-mRNA splicing factors including PRPF31 have been identified as cause for RP, raising the question how mutations in general factors lead to tissue specific defects.
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Key words
Retinitis pigmentosa (RP),PRPF31,AD5 mutation,SP117 mutation,haploinsufficiency,dominant-negative,rod degeneration,apoptosis,splicing defect
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