Document Detail

Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein.
MedLine Citation:
PMID:  10506174     Owner:  NLM     Status:  MEDLINE    
Mice homozygous for the retinal degeneration slow (rds) mutation completely lack photoreceptor outer segments. The rds gene encodes rds/peripherin (rds), a membrane glycoprotein in the rims of rod and cone outer segment discs. rds is present as a complex with the related protein, rom1. Here, we generated transgenic mice that express a chimeric protein (rom/D2) containing the intradiscal D2 loop of rds in the context of rom1. rom/D2 was N-glycosylated, formed covalent homodimers, and interacted non-covalently with itself, rds, and rom1. The rds.rom/D2 interaction was significantly more stable than the non-covalent interaction between rds and rom1 by detergent/urea titration. Analysis of mice expressing rom/D2 revealed that rds is 2.5-fold more abundant than rom1, interacts non-covalently with itself and rom1 via the D2 loop, and forms a high order complex that may extend the entire circumference of the disc. Expression of rom/D2 fully rescued the ultrastructural phenotype in rds+/- mutant mice, but it had no effect on the phenotype in rds-/- mutants. Together, these observations explain the striking differences in null phenotypes and frequencies of disease-causing mutations between the RDS and ROM1 genes.
W Kedzierski; J Weng; G H Travis
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  The Journal of biological chemistry     Volume:  274     ISSN:  0021-9258     ISO Abbreviation:  J. Biol. Chem.     Publication Date:  1999 Oct 
Date Detail:
Created Date:  1999-11-09     Completed Date:  1999-11-09     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  2985121R     Medline TA:  J Biol Chem     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  29181-7     Citation Subset:  IM    
Center for Basic Neuroscience, Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9111, USA.
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MeSH Terms
Amino Acid Sequence
Eye Proteins / chemistry,  genetics,  metabolism*
Intermediate Filament Proteins / metabolism*
Membrane Glycoproteins*
Membrane Proteins / chemistry,  metabolism*
Mice, Transgenic
Microscopy, Electron
Molecular Sequence Data
Nerve Tissue Proteins / metabolism*
Photoreceptor Cells, Vertebrate / chemistry*
Precipitin Tests
Protein Binding
Protein Processing, Post-Translational
RNA, Messenger / metabolism
Recombinant Fusion Proteins / genetics*
Retina / ultrastructure
Sequence Alignment
Reg. No./Substance:
0/Eye Proteins; 0/Intermediate Filament Proteins; 0/Membrane Glycoproteins; 0/Membrane Proteins; 0/Nerve Tissue Proteins; 0/RNA, Messenger; 0/Recombinant Fusion Proteins; 0/Rom1 protein, mouse; 0/peripherin

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