ArticleNature structural & molecular biology2007
prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.
Article in Nature structural & molecular biology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
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Who cites it
68 citing papers in PubMed, 104 citations in OpenAlex.
- Neurochondrin promotes U5 snRNP maturation by regulating AAR2 release from PRPF8.Nucleic acids research · 2026Article
- Retinitis pigmentosa-linked mutations impair the snRNA unwinding activity of SNRNP200 and reduce pre-mRNA binding of PRPF8.Cellular and molecular life sciences : CMLS · 2025Article
- Structure of the human 20S U5 snRNP.Nature structural & molecular biology · 2024Article
- Structural basis of human U5 snRNP late biogenesis and recycling.Nature structural & molecular biology · 2024Article
- Co-translational binding of importins to nascent proteins.Nature communications · 2023Article
- Pre-mRNA splicing-associated diseases and therapies.RNA biology · 2023Review
- Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8.Acta crystallographica. Section D, Structural biology · 2022Article
- The intrinsically disordered TSSC4 protein acts as a helicase inhibitor, placeholder and multi-interaction coordinator during snRNP assembly and recycling.Nucleic acids research · 2022Article
- Review
- TSSC4 is a component of U5 snRNP that promotes tri-snRNP formation.Nature communications · 2021Article
- Ecd promotes U5 snRNP maturation and Prp8 stability.Nucleic acids research · 2021Article
- Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.Frontiers in cell and developmental biology · 2021Review
- The Role of the U5 snRNP in Genetic Disorders and Cancer.Frontiers in genetics · 2021Review
- Loss of the RNA trimethylguanosine cap is compatible with nuclear accumulation of spliceosomal snRNAs but not pre-mRNA splicing or snRNA processing during animal development.PLoS genetics · 2020Article
- Spliceosomopathies: Diseases and mechanisms.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Review
- ADisease models & mechanisms · 2020Article
- A Snu114-GTP-Prp8 module forms a relay station for efficient splicing in yeast.Nucleic acids research · 2020Article
- The Arabidopsis lncRNA ASCO modulates the transcriptome through interaction with splicing factors.EMBO reports · 2020Article
- Early splicing functions of fission yeast Prp16 and its unexpected requirement for gene Silencing is governed by intronic features.RNA biology · 2019Article
- Functional Assessment of Patient-Derived Retinal Pigment Epithelial Cells Edited by CRISPR/Cas9.International journal of molecular sciences · 2018Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
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 lacks the mature U5 snRNP component Brr2p and depends on a nuclear localization signal in Prp8p for its efficient nuclear import. The association of Brr2p with the U5 snRNP occurs within the nucleus. RP mutations in Prp8p in yeast result in nuclear accumulation of the precursor U5 snRNP, apparently as a consequence of disrupting the interaction of Prp8p with Brr2p. We therefore propose a novel assembly pathway for U5 snRNP complexes that is disrupted by mutations that cause human RP.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.