title: Exon-skipping variant of RGR opsin in human retina and pigment epithelium.
abstract: An extraneous exon-skipping mRNA encodes an altered form of a light-absorbing opsin in human retina and pigment epithelium (RPE). The predicted protein variant differs from full-length RPE-retinal G protein-coupled receptor (RGR) by having an in-frame deletion of exon 6, which contains the entire sixth transmembrane domain. To verify that the exon 6-deleted RGR protein (RGR-d) exists in human retinas, we have produced RGR-d antibody probes. In Western blot assays, the RGR-d protein was detected in retinas of a large proportion ( approximately 53%) of individual donors, including patients with age-related macular degeneration (AMD). The relative abundance of RGR-d varied significantly between individuals. The altered protein is expressed in RPE cells and has a more basal subcellular localization that is remarkably different from that of normal RGR opsin. The presence of this exon-skipping variant of RGR in humans may contribute to the progressive derangement of the RPE.
authors.affiliation: Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA. hfong@usc.edu
authors.forename: Henry K W
authors.initials: HK
authors.lastname: Fong
authors.forename: Meng-Yin
authors.initials: MY
authors.lastname: Lin
authors.forename: Sujay
authors.initials: S
authors.lastname: Pandey
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000906:Antibodies / Q000276:immunology; D015153:Blotting, Western / Q000379:methods; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000032:analysis* / Q000235:genetics / Q000276:immunology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008268:Macular Degeneration / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D010857:Pigment Epithelium of Eye / Q000737:chemistry* / Q000276:immunology; D012326:RNA Splicing / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D043562:Receptors, G-Protein-Coupled / Q000032:analysis* / Q000235:genetics / Q000276:immunology; D011994:Recombinant Proteins / Q000032:analysis / Q000235:genetics / Q000276:immunology; D012160:Retina / Q000737:chemistry* / Q000276:immunology; D017299:Rod Opsins / Q000032:analysis* / Q000235:genetics / Q000276:immunology
chemical_list: D000906:Antibodies; D005136:Eye Proteins; C089754:G protein-coupled receptor RGR; D012333:RNA, Messenger; D043562:Receptors, G-Protein-Coupled; D011994:Recombinant Proteins; D017299:Rod Opsins