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Article

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.

Nature structural & molecular biology - 1 Nov 2007

Boon Kum-Loong, Grainger Richard J, Ehsani Parastoo, Barrass J David, Auchynnikava Tatsiana, Inglehearn Chris F, Beggs Jean D

Abstract excerpt

Prp8 protein (Prp8p) is a highly conserved pre-mRNA splicing factor and a component of spliceosomal U5 small nuclear ribonucleoproteins (snRNPs). Although it is ubiquitously expressed, mutations in the C terminus of human Prp8p cause the retina-specific disease retinitis pigmentosa (RP). The biogenesis of U5 snRNPs is poorly characterized. We present evidence for a cytoplasmic precursor U5 snRNP in yeast that...

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Identifiers

PMID: 17934474
DOI: 10.1038/nsmb1303
PMCID: PMC2584834

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prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.PMID 17934474Read ↗

Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.Semantic proximity Read ↗

Prp8 retinitis pigmentosa mutants cause defects in the transition between the catalytic steps of splicing.Semantic proximity Read ↗

Structural basis of Brr2-Prp8 interactions and implications for U5 snRNP biogenesis and the spliceosome active site.Semantic proximity Read ↗

Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.Semantic proximity Read ↗

Mechanism for Aar2p function as a U5 snRNP assembly factor.Semantic proximity Read ↗

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.Semantic proximity Read ↗

A suppressor of a yeast splicing mutation (prp8-1) encodes a putative ATP-dependent RNA helicase.Semantic proximity Read ↗

Mutations within the yeast U4/U6 snRNP protein Prp4 affect a late stage of spliceosome assembly.Semantic proximity Read ↗

Retinitis pigmentosa-linked mutations impair the snRNA unwinding activity of SNRNP200 and reduce pre-mRNA binding of PRPF8.Semantic proximity Read ↗

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and BeyondSemantic proximity Read ↗

Interactions between PRP9 and SPP91 splicing factors identify a protein complex required in prespliceosome assembly.Semantic proximity Read ↗

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