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dc.contributor.authorHUMPHRIES, PETER
dc.date.accessioned2009-11-02T17:19:22Z
dc.date.available2009-11-02T17:19:22Z
dc.date.issued2003
dc.date.submitted2003en
dc.identifier.citationBowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, and Sullivan LS `Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosxa 1 (RP1) gene? in Molecular Vision, 24, (9), 2003, pp 129 - 137en
dc.identifier.otherY
dc.identifier.other11866
dc.identifier.otherYen
dc.identifier.urihttp://hdl.handle.net/2262/34476
dc.descriptionPUBLISHEDen
dc.description.abstractPURPOSE: To determine the full-length sequence of a gene with similarity to RP1 and to screen for mutations in this newly characterized gene, named retinitis pigmentosa 1-like 1(RP1L1). Since mutations in the RP1 gene cause autosomal dominant retinitis pigmentosa, it is possible that mutations in RP1's most sequence similar relative, RP1L1, may also be a cause of inherited retinal degeneration. METHODS: A combination of cDNA clone sequencing, RACE, and database analysis were used to determine the RP1L1 mRNA sequence and its genomic organization. PCR analysis, semi-quantitative RT PCR, and in situ hybridization were used to determine the expression pattern of RP1L1. Single-strand conformational analysis and automated sequencing were used to screen probands from 60 adRP families for potential disease-causing mutations in RP1L1. RESULTS: The human RP1L1 gene is encoded in 4 exons, which span 50 kb on chromosome 8p. The length of the RP1L1 mRNA is large, over 7 kb, but its exact length is variable between individuals due to the presence of several length polymorphisms, including a 48 bp repeat. RP1L1 encodes a protein with a minimal length of 2,400 amino acids and a predicted weight of 252 kDa. Expression of RP1L1 is limited to the retina and appears to be specific to photoreceptors. Mutational analysis of 60 autosomal dominant retinitis pigmentosa probands revealed the presence of 38 sequence substitutions in RP1L1. Over half of these substitutions result in alteration of the RP1L1 protein, but none of these substitutions appear to be pathogenic. CONCLUSIONS: The RP1L1 gene encodes a large, highly polymorphic, retinal-specific protein. No RP1L1 disease-causing mutations were identified in any of the samples tested, making it unlikely that mutations in RP1L1 are a frequent cause of autosomal dominant retinitis pigmentosa. Additional experiments will be needed to determine if mutations in RP1L1 cause other forms of inherited retinal degeneration.en
dc.description.sponsorshipThis work was supported by the Foundation Fighting Blindness, the Hermann Eye Fund, Alfred W. Lasher, III, Research to Prevent Blindness, and by grants EYO5235, EY07142, and EY12950 from the National Eye Institute-National Institutes of Health. The work at Trinity College Dublin was supported by the Higher Education Authority, Ireland.en
dc.format.extent129en
dc.format.extent137en
dc.format.extent834287 bytes
dc.format.mimetypeapplication/pdf
dc.language.isoenen
dc.publisherMolecular Visionen
dc.relation.ispartofseriesMolecular Visionen
dc.relation.ispartofseries24en
dc.relation.ispartofseries9en
dc.rightsYen
dc.subjectOphthalmology
dc.titleCharacterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosxa 1 (RP1) geneen
dc.typeJournal Articleen
dc.contributor.sponsorHigher Education Authority
dc.type.supercollectionscholarly_publicationsen
dc.type.supercollectionrefereed_publicationsen
dc.identifier.peoplefinderurlhttp://people.tcd.ie/phumphrs


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