Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase

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Item Type:	Article
Title:	Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase
Creators Name:	Rosenthal, W., Antaramian, A., Gilbert, S. and Birnbaumer, M.
Abstract:	The coding region of the human vasopressin type 2 receptor gene bears mutations in the individuals affected with congenital nephrogenic diabetes insipidus, a disease characterized by the inability of the kidney to concentrate urine in response to vasopressin. Although it is assumed that the mutations result in loss of receptor function, proof of this hypothesis is lacking. We introduced one of these naturally occurring point mutations leading to a single amino acid change (Arg137-->His) into wild type cDNA. The mutant protein was expressed, and the functional properties of the receptor were examined. The mutant receptor exhibited an unaltered binding affinity for vasopressin compared to the wild type but failed to stimulate the Gs/adenylyl cyclase system. These data provide biochemical proof that the mutant receptor is the cause of the disease.
Keywords:	Adenylate Cyclase, Amino Acid Sequence, Arginine Vasopressin, Base Sequence, Cultured Cells, DNA, Diabetes Insipidus, Enzyme Activation, Gene Expression, Molecular Sequence Data, Point Mutation, Vasopressin Receptors
Source:	Journal of Biological Chemistry
ISSN:	0021-9258
Publisher:	American Society for Biochemistry and Molecular Biology
Volume:	268
Number:	18
Page Range:	13030-13033
Date:	25 June 1993
Official Publication:	http://www.jbc.org/cgi/content/abstract/268/18/13030
PubMed:	View item in PubMed

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