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.
journal_name
Exp Eye Resjournal_title
Experimental eye researchauthors
Fong HK,Lin MY,Pandey Sdoi
10.1016/j.exer.2005.11.013keywords:
subject
Has Abstractpub_date
2006-07-01 00:00:00pages
133-40issue
1eissn
0014-4835issn
1096-0007pii
S0014-4835(06)00072-8journal_volume
83pub_type
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