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| MOLECULAR-IDENTIFICATION OF THE GENE RESPONSIBLE FOR CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS |
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| Author(s): ROSENTHAL W, SEIBOLD A, ANTARAMIAN A, LONERGAN M, ARTHUS MF, HENDY GN, BIRNBAUMER M, BICHET DG |
| Source: NATURE Volume: 359 Issue: 6392 Pages: 233-235 Published: SEP 17 1992 |
| Times Cited: 194 References: 22 |
| Abstract: ANTIDIURETIC hormone (arginine vasopressin) binds to and activates V2 receptors in renal collecting tubule cells. Subsequent stimulation of the G(s)/adenylyl cyclase system promotes insertion of water pores into the luminal membrane and thereby reabsorption of fluid. In congenital nephrogenic diabetes insipidus (CNDI)1, an X-linked recessive disorder, the kidney fails to respond to arginine vasopressin. Here we report that an affected male of a family with CNDI2,3 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. |
| Document Type: Article |
| Language: English |
Addresses:
1. BAYLOR COLL MED, DEPT CELL BIOL, HOUSTON, TX 77030 USA
2. HOP SACRE COEUR, CTR RECH, SERV NEPHROL, MONTREAL H4J 1C5, QUEBEC CANADA
3. UNIV MONTREAL, DEPT MED, MONTREAL H3C 3J7, QUEBEC CANADA |
| Publisher: MACMILLAN MAGAZINES LTD, PORTERS SOUTH, 4 CRINAN ST, LONDON, ENGLAND N1 9XW |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: JN944 |
| ISSN: 0028-0836 |
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