{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:12:12Z","timestamp":1790183532704,"version":"4.1.0"},"reference-count":82,"publisher":"The Company of Biologists","issue":"1","license":[{"start":{"date-parts":[[2021,3,23]],"date-time":"2021-03-23T00:00:00Z","timestamp":1616457600000},"content-version":"vor","delay-in-days":67,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,15]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Retinitis pigmentosa (RP) is a clinically heterogeneous disease affecting 1.6 million people worldwide. The second-largest group of genes causing autosomal dominant RP in human encodes regulators of the splicing machinery. Yet, how defects in splicing factor genes are linked to the aetiology of the disease remains largely elusive. To explore possible mechanisms underlying retinal degeneration caused by mutations in regulators of the splicing machinery, we induced mutations in Drosophila Prp31, the orthologue of human PRPF31, mutations in which are associated with RP11. Flies heterozygous mutant for Prp31 are viable and develop normal eyes and retina. However, photoreceptors degenerate under light stress, thus resembling the human disease phenotype. Degeneration is associated with increased accumulation of the visual pigment rhodopsin 1 and increased mRNA levels of twinfilin, a gene associated with rhodopsin trafficking. Reducing rhodopsin levels by raising animals in a carotenoid-free medium not only attenuates rhodopsin accumulation, but also retinal degeneration. Given a similar importance of proper rhodopsin trafficking for photoreceptor homeostasis in human, results obtained in flies presented here will also contribute to further unravel molecular mechanisms underlying the human disease.<\/jats:p>\n                  <jats:p>This paper has an associated First Person interview with the co-first authors of the article.<\/jats:p>","DOI":"10.1242\/bio.052332","type":"journal-article","created":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T08:16:23Z","timestamp":1611562583000},"source":"Crossref","is-referenced-by-count":10,"title":["Mutations in the splicing regulator Prp31 lead to retinal degeneration in\n                    <i>Drosophila<\/i>"],"prefix":"10.1242","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9425-9413","authenticated-orcid":false,"given":"Sarita","family":"Hebbar","sequence":"first","affiliation":[{"name":"Max-Planck-Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malte","family":"Lehmann","sequence":"additional","affiliation":[{"name":"Max-Planck-Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Behrens","sequence":"additional","affiliation":[{"name":"Max-Planck-Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catrin","family":"H\u00e4lsig","sequence":"additional","affiliation":[{"name":"Max-Planck-Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weihua","family":"Leng","sequence":"additional","affiliation":[{"name":"Max-Planck-Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Yuan","sequence":"additional","affiliation":[{"name":"Max-Planck-Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylke","family":"Winkler","sequence":"additional","affiliation":[{"name":"Max-Planck-Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2732-9135","authenticated-orcid":false,"given":"Elisabeth","family":"Knust","sequence":"additional","affiliation":[{"name":"Max-Planck-Institute of Molecular Cell Biology and Genetics, Pfotenhauerstrasse 108, 01307 Dresden, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2021,1,25]]},"reference":[{"key":"2021042701060529000_BIO052332C1","doi-asserted-by":"publisher","first-page":"Unit7 20","DOI":"10.1002\/0471142905.hg0720s76","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","volume":"Chapter 7","author":"Adzhubei","year":"2013","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"2021042701060529000_BIO052332C2","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1007\/s13205-017-0878-3","article-title":"Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario","volume":"7","author":"Ali","year":"2017","journal-title":"3 Biotech"},{"key":"2021042701060529000_BIO052332C3","doi-asserted-by":"publisher","first-page":"6775","DOI":"10.1002\/jcb.26871","article-title":"Human organotypic retinal flat-mount culture (HORFC) as a model for retinitis pigmentosa11","volume":"119","author":"Azizzadeh Pormehr","year":"2018","journal-title":"J. Cell. Biochem."},{"key":"2021042701060529000_BIO052332C4","doi-asserted-by":"publisher","first-page":"5927","DOI":"10.1167\/iovs.08-3275","article-title":"Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP)","volume":"50","author":"Bujakowska","year":"2009","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042701060529000_BIO052332C5","doi-asserted-by":"publisher","first-page":"3915","DOI":"10.1091\/mbc.e09-10-0917","article-title":"Antagonistic functions of two Stardust isoforms in Drosophila photoreceptor cells","volume":"21","author":"Bulgakova","year":"2010","journal-title":"Mol. Biol. Cell"},{"key":"2021042701060529000_BIO052332C6","doi-asserted-by":"publisher","first-page":"4234","DOI":"10.1038\/s41467-018-06448-y","article-title":"Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa","volume":"9","author":"Buskin","year":"2018","journal-title":"Nat. Commun."},{"key":"2021042701060529000_BIO052332C7","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1083\/jcb.201203083","article-title":"Crumbs limits oxidase-dependent signaling to maintain epithelial integrity and prevent photoreceptor cell death","volume":"198","author":"Chartier","year":"2012","journal-title":"J. Cell Biol."},{"key":"2021042701060529000_BIO052332C8","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1038\/s41514-017-0019-6","article-title":"Cytochrome b5 protects photoreceptors from light stress-induced lipid peroxidation and retinal degeneration","volume":"3","author":"Chen","year":"2017","journal-title":"NPJ Aging Mech. Dis."},{"key":"2021042701060529000_BIO052332C9","doi-asserted-by":"publisher","first-page":"e1000377","DOI":"10.1371\/journal.pgen.1000377","article-title":"Accumulation of rhodopsin in late endosomes triggers photoreceptor cell degeneration","volume":"5","author":"Chinchore","year":"2009","journal-title":"PLoS Genet."},{"key":"2021042701060529000_BIO052332C10","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1016\/0092-8674(91)90177-Z","article-title":"The cyclophilin homolog ninaA is required in the secretory pathway","volume":"67","author":"Colley","year":"1991","journal-title":"Cell"},{"key":"2021042701060529000_BIO052332C11","doi-asserted-by":"publisher","first-page":"3070","DOI":"10.1073\/pnas.92.7.3070","article-title":"Defective intracellular transport is the molecular basis of rhodopsin-dependent dominant retinal degeneration","volume":"92","author":"Colley","year":"1995","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2021042701060529000_BIO052332C12","doi-asserted-by":"publisher","first-page":"jcs216697","DOI":"10.1242\/jcs.216697","article-title":"Neurodegeneration and locomotor dysfunction in Drosophila scarlet mutants","volume":"131","author":"Cunningham","year":"2018","journal-title":"J. Cell Sci."},{"key":"2021042701060529000_BIO052332C13","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1111\/cge.12203","article-title":"Genes and mutations causing retinitis pigmentosa","volume":"84","author":"Daiger","year":"2013","journal-title":"Clin. Genet."},{"key":"2021042701060529000_BIO052332C14","doi-asserted-by":"publisher","first-page":"a017129","DOI":"10.1101\/cshperspect.a017129","article-title":"Genes and mutations causing autosomal dominant retinitis pigmentosa","volume":"5","author":"Daiger","year":"2014","journal-title":"Cold Spring Harb. Perspect Med."},{"key":"2021042701060529000_BIO052332C15","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1038\/nature19356","article-title":"High-throughput discovery of novel developmental phenotypes","volume":"537","author":"Dickinson","year":"2016","journal-title":"Nature"},{"key":"2021042701060529000_BIO052332C16","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1038\/nature05954","article-title":"A genome-wide transgenic RNAi library for conditional gene inactivation in Drosophila","volume":"448","author":"Dietzl","year":"2007","journal-title":"Nature"},{"key":"2021042701060529000_BIO052332C17","doi-asserted-by":"publisher","first-page":"2641","DOI":"10.1016\/j.ajpath.2014.06.026","article-title":"Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium","volume":"184","author":"Farkas","year":"2014","journal-title":"Am. J. Pathol."},{"key":"2021042701060529000_BIO052332C18","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1167\/iovs.10-5194","article-title":"Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration","volume":"52","author":"Graziotto","year":"2011","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021042701060529000_BIO052332C19","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1007\/978-3-030-27378-1_37","article-title":"Retinal pigment epithelial cells: the unveiled component in the etiology of Prpf splicing factor-associated retinitis pigmentosa","volume":"1185","author":"Hamieh","year":"2019","journal-title":"Adv. Exp. Med. Biol."},{"key":"2021042701060529000_BIO052332C20","doi-asserted-by":"publisher","first-page":"10963","DOI":"10.1093\/nar\/gkv1011","article-title":"Assembly and dynamics of the U4\/U6 di-snRNP by single-molecule FRET","volume":"43","author":"Hardin","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"2021042701060529000_BIO052332C21","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1113\/jphysiol.1976.sp011331","article-title":"Genetic dissection of the photoreceptor system in the compound eye of Drosophila melanogaster","volume":"256","author":"Harris","year":"1976","journal-title":"J. Physiol."},{"key":"2021042701060529000_BIO052332C22","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1242\/dev.120.8.2121","article-title":"Expression of baculovirus P35 prevents cell death in Drosophila","volume":"120","author":"Hay","year":"1994","journal-title":"Development"},{"key":"2021042701060529000_BIO052332C82","doi-asserted-by":"publisher","author":"Hebbar","year":"2020","DOI":"10.1083\/jcb.201911100"},{"key":"2021042701060529000_BIO052332C23","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/B978-0-12-394304-0.00006-3","article-title":"Defective trafficking of rhodopsin and its role in retinal degenerations","volume":"293","author":"Hollingsworth","year":"2012","journal-title":"Int. Rev. Cell Mol. Biol."},{"key":"2021042701060529000_BIO052332C24","doi-asserted-by":"publisher","first-page":"e1005828","DOI":"10.1371\/journal.pgen.1005828","article-title":"Rab6 is required for multiple apical transport pathways but not the basolateral transport pathway in Drosophila photoreceptors","volume":"12","author":"Iwanami","year":"2016","journal-title":"PLoS Genet."},{"key":"2021042701060529000_BIO052332C25","doi-asserted-by":"publisher","first-page":"1675","DOI":"10.1016\/S0960-9822(02)01180-6","article-title":"Drosophila Crumbs is required to inhibit light-induced photoreceptor degeneration","volume":"12","author":"Johnson","year":"2002","journal-title":"Curr. Biol."},{"key":"2021042701060529000_BIO052332C26","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1111\/febs.14522","article-title":"ER stress and unfolded protein response in ocular health and disease","volume":"286","author":"Kroeger","year":"2018","journal-title":"FEBS J."},{"key":"2021042701060529000_BIO052332C27","doi-asserted-by":"crossref","first-page":"4359","DOI":"10.1242\/dev.121.12.4359","article-title":"Rhodopsin plays an essential structural role in Drosophila photoreceptor development","volume":"121","author":"Kumar","year":"1995","journal-title":"Development"},{"key":"2021042701060529000_BIO052332C28","doi-asserted-by":"publisher","first-page":"4007","DOI":"10.1534\/g3.119.400635","article-title":"Identification of genes required for apical protein trafficking in Drosophila photoreceptor cells","volume":"9","author":"Laffafian","year":"2019","journal-title":"G3 (Bethesda)"},{"key":"2021042701060529000_BIO052332C29","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/S1046-2023(03)00051-3","article-title":"Making a better RNAi vector for Drosophila: use of intron spacers","volume":"30","author":"Lee","year":"2003","journal-title":"Methods"},{"key":"2021042701060529000_BIO052332C30","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1093\/hmg\/ddq473","article-title":"Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa","volume":"20","author":"Linder","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"2021042701060529000_BIO052332C31","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1111\/cge.12181","article-title":"Alternative splicing and retinal degeneration","volume":"84","author":"Liu","year":"2013","journal-title":"Clin. Genet."},{"key":"2021042701060529000_BIO052332C32","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1126\/science.1137924","article-title":"Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP","volume":"316","author":"Liu","year":"2007","journal-title":"Science"},{"key":"2021042701060529000_BIO052332C33","doi-asserted-by":"publisher","first-page":"3359","DOI":"10.1093\/bioinformatics\/btv362","article-title":"IBS: an illustrator for the presentation and visualization of biological sequences","volume":"31","author":"Liu","year":"2015","journal-title":"Bioinformatics"},{"key":"2021042701060529000_BIO052332C34","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1016\/j.yexcr.2004.07.029","article-title":"PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor","volume":"300","author":"Maita","year":"2004","journal-title":"Exp. Cell Res."},{"key":"2021042701060529000_BIO052332C35","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1007\/978-1-4939-8669-9_22","article-title":"Analysis of the Drosophila compound eye with light and electron microscopy","volume":"1834","author":"Mishra","year":"2019","journal-title":"Methods Mol. Biol."},{"key":"2021042701060529000_BIO052332C36","first-page":"3224","article-title":"Characterization of two dominant alleles of the major rhodopsin-encoding gene ninaE in Drosophila","volume":"17","author":"Mitra","year":"2011","journal-title":"Mol. Vis."},{"key":"2021042701060529000_BIO052332C37","first-page":"1259","article-title":"Pre-mRNA splicing and retinitis pigmentosa","volume":"12","author":"Mordes","year":"2006","journal-title":"Mol. Vis."},{"key":"2021042701060529000_BIO052332C38","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/bs.pmbts.2015.02.007","article-title":"Rhodopsin Trafficking and Mistrafficking: Signals, Molecular Components, and Mechanisms","volume":"132","author":"Nemet","year":"2015","journal-title":"Prog. Mol. Biol. Transl. Sci."},{"key":"2021042701060529000_BIO052332C39","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1038\/nature14548","article-title":"The architecture of the spliceosomal U4\/U6.U5 tri-snRNP","volume":"523","author":"Nguyen","year":"2015","journal-title":"Nature"},{"key":"2021042701060529000_BIO052332C40","doi-asserted-by":"publisher","first-page":"3141","DOI":"10.1242\/jcs.03052","article-title":"An essential role for endocytosis of rhodopsin through interaction of visual arrestin with the AP-2 adaptor","volume":"119","author":"Orem","year":"2006","journal-title":"J. Cell Sci."},{"key":"2021042701060529000_BIO052332C41","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1016\/S0006-291X(74)80073-2","article-title":"Drosophila rhodopsin: photochemistry, extraction and differences in the norp AP12 phototransduction mutant","volume":"59","author":"Ostroy","year":"1974","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2021042701060529000_BIO052332C42","doi-asserted-by":"publisher","first-page":"1113","DOI":"10.1016\/0896-6273(93)90059-Z","article-title":"Maturation of major Drosophila rhodopsin, ninaE, requires chromophore 3-hydroxyretinal","volume":"10","author":"Ozaki","year":"1993","journal-title":"Neuron"},{"key":"2021042701060529000_BIO052332C43","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1038\/ng1312","article-title":"Systematic generation of high-resolution deletion coverage of the Drosophila melanogaster genome","volume":"36","author":"Parks","year":"2004","journal-title":"Nat. Genet."},{"key":"2021042701060529000_BIO052332C44","doi-asserted-by":"publisher","first-page":"6482","DOI":"10.1093\/nar\/gkn658","article-title":"The assembly of a spliceosomal small nuclear ribonucleoprotein particle","volume":"36","author":"Patel","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"2021042701060529000_BIO052332C45","doi-asserted-by":"publisher","first-page":"827","DOI":"10.1083\/jcb.201105144","article-title":"Crumbs regulates rhodopsin transport by interacting with and stabilizing myosin V","volume":"195","author":"Pocha","year":"2011","journal-title":"J. Cell Biol."},{"key":"2021042701060529000_BIO052332C46","doi-asserted-by":"publisher","first-page":"a000778","DOI":"10.1101\/cshperspect.a000778","article-title":"Developments in RNA splicing and disease","volume":"3","author":"Poulos","year":"2011","journal-title":"Cold Spring Harb. Perspect Biol."},{"key":"2021042701060529000_BIO052332C47","doi-asserted-by":"publisher","first-page":"e49889","DOI":"10.1371\/journal.pone.0049889","article-title":"Rhodopsin gene expression determines rod outer segment size and rod cell resistance to a dominant-negative neurodegeneration mutant","volume":"7","author":"Price","year":"2012","journal-title":"PLoS ONE"},{"key":"2021042701060529000_BIO052332C48","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1007\/s13238-010-0035-9","article-title":"The splicing factor Prp31 is essential for photoreceptor development in Drosophila","volume":"1","author":"Ray","year":"2010","journal-title":"Protein Cell"},{"key":"2021042701060529000_BIO052332C49","doi-asserted-by":"publisher","first-page":"3154","DOI":"10.1093\/hmg\/ddn212","article-title":"Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations","volume":"17","author":"Rio Frio","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"2021042701060529000_BIO052332C50","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1111\/cge.12758","article-title":"Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa","volume":"90","author":"Rose","year":"2016","journal-title":"Clin. Genet."},{"key":"2021042701060529000_BIO052332C51","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/15476286.2016.1191735","article-title":"Mutations in spliceosomal proteins and retina degeneration","volume":"14","author":"Ruzickova","year":"2016","journal-title":"RNA Biol."},{"key":"2021042701060529000_BIO052332C52","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1534\/genetics.107.076216","article-title":"The DrosDel deletion collection: a Drosophila genomewide chromosomal deficiency resource","volume":"177","author":"Ryder","year":"2007","journal-title":"Genetics"},{"key":"2021042701060529000_BIO052332C53","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/0014-4835(91)90147-7","article-title":"Carotenoid replacement therapy in Drosophila: recovery of membrane, opsin and visual pigment","volume":"53","author":"Sapp","year":"1991","journal-title":"Exp. Eye Res."},{"key":"2021042701060529000_BIO052332C54","doi-asserted-by":"publisher","first-page":"1722","DOI":"10.1016\/j.cub.2005.08.064","article-title":"Arrestin1 mediates light-dependent rhodopsin endocytosis and cell survival","volume":"15","author":"Satoh","year":"2005","journal-title":"Curr. Biol."},{"key":"2021042701060529000_BIO052332C55","doi-asserted-by":"crossref","first-page":"2943","DOI":"10.1242\/jcs.110.23.2943","article-title":"In situ inhibition of vesicle transport and protein processing in the dominant negative Rab1 mutant of Drosophila","volume":"110","author":"Satoh","year":"1997","journal-title":"J. Cell Sci."},{"key":"2021042701060529000_BIO052332C56","doi-asserted-by":"publisher","first-page":"651","DOI":"10.2108\/zsj.15.651","article-title":"Rhodopsin transport and Rab expression in the carotenoid-deprived Drosophila melanogaster","volume":"15","author":"Satoh","year":"1998","journal-title":"Zoolog. Sci."},{"key":"2021042701060529000_BIO052332C81","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01704","article-title":"Rab11 mediates post-Golgi trafficking of rhodopsin to the photosensitive apical membrane of Drosophila photoreceptors","author":"Satoh","year":"2005"},{"key":"2021042701060529000_BIO052332C57","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"2021042701060529000_BIO052332C58","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1369\/0022155419859870","article-title":"Immunocytochemical Labeling of Rhabdomeric Proteins in Drosophila Photoreceptor Cells Is Compromised by a Light-dependent Technical Artifact","volume":"67","author":"Schopf","year":"2019","journal-title":"J. Histochem. Cytochem."},{"key":"2021042701060529000_BIO052332C59","doi-asserted-by":"publisher","first-page":"28278","DOI":"10.1074\/jbc.M603350200","article-title":"RNA structural requirements for the association of the spliceosomal hPrp31 protein with the U4 and U4atac small nuclear ribonucleoproteins","volume":"281","author":"Schultz","year":"2006","journal-title":"J. Biol. Chem."},{"key":"2021042701060529000_BIO052332C60","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1038\/nrg.2015.3","article-title":"RNA mis-splicing in disease","volume":"17","author":"Scotti","year":"2016","journal-title":"Nat. Rev. Genetics"},{"key":"2021042701060529000_BIO052332C61","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1242\/bio.020040","article-title":"The Crumbs_C isoform of Drosophila shows tissue- and stage-specific expression and prevents light-dependent retinal degeneration","volume":"6","author":"Spannl","year":"2017","journal-title":"Biol. Open"},{"key":"2021042701060529000_BIO052332C62","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.3109\/02713688409000840","article-title":"Blue and ultraviolet light induced damage to the Drosophila retina: ultrastructure","volume":"3","author":"Stark","year":"1984","journal-title":"Curr. Eye Res."},{"key":"2021042701060529000_BIO052332C63","doi-asserted-by":"publisher","first-page":"2116","DOI":"10.1093\/hmg\/ddr094","article-title":"PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa","volume":"20","author":"Tanackovic","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"2021042701060529000_BIO052332C64","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s10020-019-0124-z","article-title":"Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins","volume":"26","author":"Valdes-Sanchez","year":"2019","journal-title":"Mol. Med."},{"key":"2021042701060529000_BIO052332C65","doi-asserted-by":"publisher","first-page":"e1003040","DOI":"10.1371\/journal.pgen.1003040","article-title":"CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance","volume":"8","author":"Venturini","year":"2012","journal-title":"PLoS Genet."},{"key":"2021042701060529000_BIO052332C66","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog. Retin. Eye Res."},{"key":"2021042701060529000_BIO052332C67","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1016\/S1097-2765(01)00305-7","article-title":"A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)","volume":"8","author":"Vithana","year":"2001","journal-title":"Mol. Cell"},{"key":"2021042701060529000_BIO052332C68","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1016\/j.tibs.2010.01.005","article-title":"The biochemical and structural basis for trans-to-cis isomerization of retinoids in the chemistry of vision","volume":"35","author":"von Lintig","year":"2010","journal-title":"Trends Biochem. Sci."},{"key":"2021042701060529000_BIO052332C69","doi-asserted-by":"publisher","first-page":"e1001847","DOI":"10.1371\/journal.pbio.1001847","article-title":"The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration","volume":"12","author":"Wang","year":"2014","journal-title":"PLoS Biol."},{"key":"2021042701060529000_BIO052332C70","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1016\/j.bpj.2008.10.016","article-title":"Overexpression of rhodopsin alters the structure and photoresponse of rod photoreceptors","volume":"96","author":"Wen","year":"2009","journal-title":"Biophys. J."},{"key":"2021042701060529000_BIO052332C71","doi-asserted-by":"publisher","first-page":"107950","DOI":"10.1016\/j.exer.2020.107950","article-title":"Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy","volume":"192","author":"Wheway","year":"2020","journal-title":"Exp. Eye Res."},{"key":"2021042701060529000_BIO052332C72","doi-asserted-by":"publisher","first-page":"a003707","DOI":"10.1101\/cshperspect.a003707","article-title":"Spliceosome structure and function","volume":"3","author":"Will","year":"2011","journal-title":"Cold Spring Harb. Perspect Biol."},{"key":"2021042701060529000_BIO052332C73","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1101\/gr.3721805","article-title":"Target-selected mutant screen by TILLING in Drosophila","volume":"15","author":"Winkler","year":"2005","journal-title":"Genome Res."},{"key":"2021042701060529000_BIO052332C74","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1007\/978-1-61779-210-6_19","article-title":"Mutant generation in vertebrate model organisms by TILLING","volume":"770","author":"Winkler","year":"2011","journal-title":"Methods Mol. Biol."},{"key":"2021042701060529000_BIO052332C75","doi-asserted-by":"publisher","first-page":"652","DOI":"10.1016\/j.tins.2013.08.003","article-title":"Rhodopsin homeostasis and retinal degeneration: lessons from the fly","volume":"36","author":"Xiong","year":"2013","journal-title":"Trends Neurosci."},{"key":"2021042701060529000_BIO052332C76","doi-asserted-by":"publisher","first-page":"e1001438","DOI":"10.1371\/journal.pbio.1001438","article-title":"Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells","volume":"10","author":"Xiong","year":"2012","journal-title":"PLoS Biol."},{"key":"2021042701060529000_BIO052332C77","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1186\/1750-1326-6-56","article-title":"Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa","volume":"6","author":"Yin","year":"2011","journal-title":"Mol. Neurodegener"},{"key":"2021042701060529000_BIO052332C78","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1523\/JNEUROSCI.2399-04.2005","article-title":"Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells","volume":"25","author":"Yuan","year":"2005","journal-title":"J. Neurosci."},{"key":"2021042701060529000_BIO052332C79","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/j.exer.2014.04.015","article-title":"Endoplasmic reticulum stress and the unfolded protein responses in retinal degeneration","volume":"125","author":"Zhang","year":"2014","journal-title":"Exp. Eye Res."},{"key":"2021042701060529000_BIO052332C80","doi-asserted-by":"publisher","first-page":"617","DOI":"10.1016\/j.ajhg.2009.09.020","article-title":"Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4\/U6 snRNAs","volume":"85","author":"Zhao","year":"2009","journal-title":"Am. J. Hum. Genet."}],"container-title":["Biology Open"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.logists.com\/bio\/bio\/article-pdf\/doi\/10.1242\/bio.052332\/1820114\/bio052332.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/journals.logists.com\/bio\/bio\/article-pdf\/doi\/10.1242\/bio.052332\/1820114\/bio052332.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,26]],"date-time":"2021-04-26T22:48:07Z","timestamp":1619477287000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/bio\/article\/10\/1\/bio052332\/237243\/Mutations-in-the-splicing-regulator-Prp31-lead-to"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,15]]},"references-count":82,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1,15]]}},"URL":"https:\/\/doi.org\/10.1242\/bio.052332","relation":{},"ISSN":["2046-6390"],"issn-type":[{"value":"2046-6390","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,15]]},"article-number":"bio052332"}}