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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2006-6-5
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0014-4835
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
83
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
133-40
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:16530760-Aged,
pubmed-meshheading:16530760-Aged, 80 and over,
pubmed-meshheading:16530760-Antibodies,
pubmed-meshheading:16530760-Blotting, Western,
pubmed-meshheading:16530760-Exons,
pubmed-meshheading:16530760-Eye Proteins,
pubmed-meshheading:16530760-Female,
pubmed-meshheading:16530760-Gene Deletion,
pubmed-meshheading:16530760-Humans,
pubmed-meshheading:16530760-Immunohistochemistry,
pubmed-meshheading:16530760-Macular Degeneration,
pubmed-meshheading:16530760-Male,
pubmed-meshheading:16530760-Middle Aged,
pubmed-meshheading:16530760-Pigment Epithelium of Eye,
pubmed-meshheading:16530760-RNA, Messenger,
pubmed-meshheading:16530760-RNA Splicing,
pubmed-meshheading:16530760-Receptors, G-Protein-Coupled,
pubmed-meshheading:16530760-Recombinant Proteins,
pubmed-meshheading:16530760-Retina,
pubmed-meshheading:16530760-Rod Opsins
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pubmed:year |
2006
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pubmed:articleTitle |
Exon-skipping variant of RGR opsin in human retina and pigment epithelium.
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pubmed:affiliation |
Department of Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA. hfong@usc.edu
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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