Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
XB-ART-21403
Science 1994 Apr 01;2645155:92-5. doi: 10.1126/science.8140421.
Show Gene links Show Anatomy links

Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.

Deen PM , Verdijk MA , Knoers NV , Wieringa B , Monnens LA , van Os CH , van Oost BA .


???displayArticle.abstract???
Concentration of urine in mammals is regulated by the antidiuretic hormone vasopressin. Binding of vasopressin to its V2 receptor leads to the insertion of water channels in apical membranes of principal cells in collecting ducts. In nephrogenic diabetes insipidus (NDI), the kidney fails to concentrate urine in response to vasopressin. A male patient with an autosomal recessive form of NDI was found to be a compound heterozygote for two mutations in the gene encoding aquaporin-2, a water channel. Functional expression studies in Xenopus oocytes revealed that each mutation resulted in nonfunctional water channel proteins. Thus, aquaporin-2 is essential for vasopressin-dependent concentration of urine.

???displayArticle.pubmedLink??? 8140421
???displayArticle.link??? Science


Species referenced: Xenopus laevis
Genes referenced: aqp2 avp