2 NOVEL MUTATIONS IN THE VASOPRESSIN V2 RECEPTOR GENE IN PATIENTS WITH CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS

被引:26
作者
OKSCHE, A
DICKSON, J
SCHULEIN, R
SEYBERTH, HW
MULLER, M
RASCHER, W
BIRNBAUMER, M
ROSENTHAL, W
机构
[1] UNIV GIESSEN,RUDOLF BUCHHEIM INST PHARMAKOL,D-35392 GIESSEN,GERMANY
[2] PEDIAT PRACTICE,D-33602 BIELEFELD,GERMANY
[3] UNIV MARBURG,ZENTRUM KINDERHEILKUNDE,D-35037 MARBURG,GERMANY
[4] UNIV GIESSEN,ZENTRUM KINDERHEILKUNDE,D-35392 GIESSEN,GERMANY
[5] UNIV CALIF LOS ANGELES,SCH MED,DEPT ANESTHESIOL,LOS ANGELES,CA 93324
关键词
D O I
10.1006/bbrc.1994.2700
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Families with congenital nephrogenic diabetes insipidus were analyzed with regard to mutations in the vasopressin V2 receptor gene. Family 1 shows an X-chromosomal recessive inheritance of the disease over 4 generations. A patient from this family was found to have a T-->A transversion at nucleotide 1095, predictive for a substitution of serine 167 (which is highly conserved among G-protein-coupled receptors), by threonine. Both the mutant and the normal allele were detected in the maternal genome. The patient's healthy brother was homozygous for the normal allele. The patient fi om family 2 showed a T-->C transition at nucleotide 727, predictive for a substitution of leucine 44 by proline. Analysis of the maternal genome revealed homozygosity for the normal allele. Thus a de novo mutation seems to have occurred. The nature and site of the mutation in family 2 suggest that it is responsible for the patient's disease. (C) 1994 Academic Press, Inc.
引用
收藏
页码:552 / 557
页数:6
相关论文
共 18 条
[1]   THE PROBABLE ARRANGEMENT OF THE HELICES IN G-PROTEIN-COUPLED RECEPTORS [J].
BALDWIN, JM .
EMBO JOURNAL, 1993, 12 (04) :1693-1703
[2]   X-LINKED NEPHROGENIC DIABETES-INSIPIDUS MUTATIONS IN NORTH-AMERICA AND THE HOPEWELL HYPOTHESIS [J].
BICHET, DG ;
ARTHUS, MF ;
LONERGAN, M ;
HENDY, GN ;
PARADIS, AJ ;
FUJIWARA, TM ;
MORGAN, K ;
GREGORY, MC ;
ROSENTHAL, W ;
DIDWANIA, A ;
ANTARAMIAN, A ;
BIRNBAUMER, M .
JOURNAL OF CLINICAL INVESTIGATION, 1993, 92 (03) :1262-1268
[3]  
BICHET DG, 1994, AM J HUM GENET, V55, P278
[4]  
BICHET DG, 1992, OXFORD TXB CLIN NEPH, P789
[5]   AN EXTRACELLULAR CONGENITAL NEPHROGENIC DIABETES-INSIPIDUS MUTATION OF THE VASOPRESSIN RECEPTOR REDUCES CELL-SURFACE EXPRESSION, AFFINITY FOR LIGAND, AND COUPLING TO THE G(S)/ADENYLYL CYCLASE SYSTEM [J].
BIRNBAUMER, M ;
GILBERT, S ;
ROSENTHAL, W .
MOLECULAR ENDOCRINOLOGY, 1994, 8 (07) :886-894
[6]   MOLECULAR-CLONING OF THE RECEPTOR FOR HUMAN ANTIDIURETIC-HORMONE [J].
BIRNBAUMER, M ;
SEIBOLD, A ;
GILBERT, S ;
ISHIDO, M ;
BARBERIS, C ;
ANTARAMIAN, A ;
BRABET, P ;
ROSENTHAL, W .
NATURE, 1992, 357 (6376) :333-335
[7]   HORMONAL SIGNALING AND REGULATION OF SALT AND WATER TRANSPORT IN THE COLLECTING DUCT [J].
BREYER, MD ;
ANDO, Y .
ANNUAL REVIEW OF PHYSIOLOGY, 1994, 56 :711-739
[8]   REQUIREMENT OF HUMAN RENAL WATER CHANNEL AQUAPORIN-2 FOR VASOPRESSIN-DEPENDENT CONCENTRATION OF URINE [J].
DEEN, PMT ;
VERDIJK, MAJ ;
KNOERS, NVAM ;
WIERINGA, B ;
MONNENS, LAH ;
VANOS, CH ;
VANOOST, BA .
SCIENCE, 1994, 264 (5155) :92-95
[9]   ANALYSIS OF ACCURACY AND IMPLICATIONS OF SIMPLE METHODS FOR PREDICTING SECONDARY STRUCTURE OF GLOBULAR PROTEINS [J].
GARNIER, J ;
OSGUTHORPE, DJ ;
ROBSON, B .
JOURNAL OF MOLECULAR BIOLOGY, 1978, 120 (01) :97-120
[10]   INHERITANCE OF MUTATIONS IN THE V-2 RECEPTOR GENE IN 13 FAMILIES WITH NEPHROGENIC DIABETES-INSIPIDUS [J].
KNOERS, NVAM ;
VANDENOUWELAND, AMW ;
VERDIJK, M ;
MONNENS, LAH ;
VANOOST, BA .
KIDNEY INTERNATIONAL, 1994, 46 (01) :170-176