Gene Symbol: prpf31
Description: PRP31 pre-mRNA processing factor 31 homolog (yeast)
Alias: zgc:66177, U4/U6 small nuclear ribonucleoprotein Prp31, pre-mRNA-processing factor 31
Linder B, Dill H, Hirmer A, Brocher J, Lee G, Mathavan S, et al
. Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa. Hum Mol Genet. 2011;20:368-77 pubmed publisher
..We have modeled the disease in zebrafish by silencing the RP-associated splicing factor Prpf31 and observed detrimental effects on visual function and photoreceptor morphology...
Trede N, Medenbach J, Damianov A, Hung L, Weber G, Paw B, et al
. Network of coregulated spliceosome components revealed by zebrafish mutant in recycling factor p110. Proc Natl Acad Sci U S A. 2007;104:6608-13 pubmed
..Together, our data demonstrate that a mutation in a general splicing factor can lead to distinct defects in organ development and cause disease. ..
Yin J, Brocher J, Fischer U, Winkler C. Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa. Mol Neurodegener. 2011;6:56 pubmed publisher
..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 ..
Chen X, Liu Y, Sheng X, Tam P, Zhao K, Chen X, et al
. PRPF4 mutations cause autosomal dominant retinitis pigmentosa. Hum Mol Genet. 2014;23:2926-39 pubmed publisher
..We conclude that mutations of PRPF4 cause RP via haploinsufficiency and dominant-negative effects, and establish PRPF4 as a new U4/U6-U5 snRNP component associated with adRP. ..
Liu Y, Chen X, Qin B, Zhao K, Zhao Q, Staley J, et al
. Knocking Down Snrnp200 Initiates Demorphogenesis of Rod Photoreceptors in Zebrafish. J Ophthalmol. 2015;2015:816329 pubmed publisher
..Conclusions. We conclude that knocking down Snrnp200 in zebrafish could alter regular splicing and expression of a panel of genes, which may eventually trigger rod defects. ..