Document Detail


Studies on the very large G protein-coupled receptor: from initial discovery to determining its role in sensorineural deafness in higher animals.
MedLine Citation:
PMID:  21618827     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The very large G protein-coupled receptor 1 (VLGRI), also known as MASS1 or GPR98, is most notable among the family of adhesion-GPCR for its size. Encoded by an 18.9 kb open reading frame, the approximately 700 kDa primary translation product is by far the largest GPCR and additionally, the largest cell surface protein known to date. The large ectodomain of the protein contains several repeated motifs, including some 35 calcium binding, Calx-beta repeats and seven copies of an epitempin repeat thought to be associated with the development of epilepsy. The extreme carboxy-terminus contains a consensus PDZ ligand sequence, suggesting interactions with other cytosolic or cytoskeletal proteins. At least two spontaneous and two targeted mutant mouse lines are currently known. The mutant mice present with sensitivity to audiogenic seizures but also have cochlear defects and significant, progressive hearing impairment. Although its ligand is currently unknown, VLGR1 is one of the few adhesion-GPCR family members in which mutations have been shown to be responsible for a human malady. Mutations in VLGRI in humans result in one form (2C) of Usher syndrome, the most common genetic cause of combined blindness and deafness.
Authors:
D Randy McMillan; Perrin C White
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Advances in experimental medicine and biology     Volume:  706     ISSN:  0065-2598     ISO Abbreviation:  Adv. Exp. Med. Biol.     Publication Date:  2010  
Date Detail:
Created Date:  2011-05-30     Completed Date:  2011-08-01     Revised Date:  2011-08-30    
Medline Journal Info:
Nlm Unique ID:  0121103     Medline TA:  Adv Exp Med Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  76-86     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390-9063, USA. daniel.mcmillan@utsouthwestem.edu
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MeSH Terms
Descriptor/Qualifier:
Alternative Splicing
Animals
Cochlea / metabolism
Hearing Loss, Sensorineural / physiopathology
Humans
Mutation
Protein Conformation
Protein Isoforms / chemistry,  genetics,  metabolism
Receptors, G-Protein-Coupled* / chemistry,  genetics,  metabolism
Retina / metabolism
Usher Syndromes / physiopathology
Chemical
Reg. No./Substance:
0/GPR98 protein, human; 0/Protein Isoforms; 0/Receptors, G-Protein-Coupled

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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