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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

Item Type:Article
Title:Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus
Creators Name:Rosenthal, W. and Seibold, A. and Antaramian, A. and Lonergan, M. and Arthus, M.F. and Hendy, G.N. and Birnbaumer, M. and Bichet, D.G.
Abstract:Antidiuretic hormone (arginine vasopressin) binds to and activates V2 receptors in renal collecting tubule cells. Subsequent stimulation of the Gs/adenylyl cyclase system promotes insertion of water pores into the luminal membrane and thereby reabsorption of fluid. In congenital nephrogenic diabetes insipidus (CNDI), an X-linked recessive disorder, the kidney fails to respond to arginine vasopressin. Here we report that an affected male of a family with CNDI has a deletion in the open reading frame of the V2 receptor gene, causing a frame shift and premature termination of translation in the third intracellular loop of the receptor protein. A normal receptor gene was found in the patient's brother. Both the normal and the mutant allele were detected in his mother. A different mutation, causing a codon change in the third transmembrane domain of the V2 receptor, was found in the open reading frame of an affected male but not in the unaffected brother belonging to another family suffering from CNDI.
Keywords:Amino Acid Sequence, Base Sequence, Diabetes Insipidus, Frameshift Mutation, Molecular Sequence Data, Open Reading Frames, Pedigree, Polymerase Chain Reaction, Restriction Fragment Length Polymorphism, Angiotensin Receptors, Vasopressin Receptors, Vasopressins, X Chromosome
Source:Nature
ISSN:0028-0836
Publisher:Nature Publishing Group (U.K.)
Volume:359
Number:6392
Page Range:233-235
Date:17 September 1992
Official Publication:https://doi.org/10.1038/359233a0
PubMed:View item in PubMed

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