Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus

Journal Article · Mon Aug 01 04:00:00 EDT 1994 · Journal of Clinical Endocrinology and Metabolism

DOI:https://doi.org/10.1210/jc.79.2.361· OSTI ID:54449

Yuasa, Hiromitsu; Ito, Masafumi; Oiso, Yutaka; Kurokawa, Masaei; Saito, Hidehiko ^[1]; Watanabe, Tohru; Oda, Yoshihiko; Ishizuka, Toshie; Tani, Nagayuki; Ito, Seiki; Shibata, Akira ^[2]

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1. Nagoya Univ. School of Medicine, Aichi (Japan)
2. Niigata City General Hospital (Japan)

Novel mutations in the V2 vasopressin receptor gene were identified in two Japanese pedigrees with X-linked congenital nephrogenic diabetes insipidus. The V2 receptor belongs to the family of G-protein-coupled receptors that contain seven distinct transmembrane domains, and the V2 receptor gene is encoded by three exons. The coding regions amplified by polymerase chain reaction were directly sequenced. In a pedigree, one of four consecutive guanine sequences (nucleotides 528-531) in the second exon was deleted (528delG). This deletion mutation results in a frame shift beginning at codon 154 in the second intracellular domain and a premature termination at codon 161. In another pedigree, a missense mutation (A{yields}G) was identified at nucleotide position 310 in the second exon. This point mutation, H80R, changes a histidine at codon 80 in the second transmembrane domain to an arginine that is more positively charged than histidine under the neutral environment. Each mutation cosegregated with the phenotype of diabetes insipidus and supposed to be a cause for resistance to arginine vasopressin. 35 refs., 4 figs., 2 tabs.

• OSTI ID: 54449
• Journal Information: Journal of Clinical Endocrinology and Metabolism, Journal Name: Journal of Clinical Endocrinology and Metabolism Journal Issue: 2 Vol. 79; ISSN JCEMAZ; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMP
DNA SEQUENCING
GENE MUTATIONS
HUMAN X CHROMOSOME
METABOLIC DISEASES
RECEPTORS
VASOPRESSIN