These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus.
    Author: Yokoyama K, Yamauchi A, Izumi M, Itoh T, Ando A, Imai E, Kamada T, Ueda N.
    Journal: J Am Soc Nephrol; 1996 Mar; 7(3):410-4. PubMed ID: 8704106.
    Abstract:
    In this study, a mutation in vasopressin Type 2 receptor (V2R) in a patient with hereditary nephrogenic diabetes insipidus (NDI) has been identified and characterized. The sequencing of the V2R gene from the patient revealed that there was a missense mutation (TAT to TGT) resulting in the substitution of 205Tyr for Cys in the putative third extracellular domain. The expression analysis in COS cells showed that the binding affinity of the mutant receptor (KD = 19.8 nM) for arginine vasopressin was much lower than that of the wild-type receptor (KD = 1.8 nM) so that intracellular cAMP production stimulated by arginine vasopressin was impaired in cells with the mutant V2R. From these results, it was concluded that the single amino-acid substitution of V2R is responsible for this familial disease.
    [Abstract] [Full Text] [Related] [New Search]