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PMID: 8140421 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Science (New York, N.Y.) ·Vol. 264 ·No. 5155 ·1994-04-01 ·Pages 92-5

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

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.

MeSH Terms

Amino Acid Sequence Animals Aquaporin 2 Aquaporin 6 Aquaporins Base Sequence Cloning, Molecular Deamino Arginine Vasopressin/pharmacology Diabetes Insipidus/genetics,physiopathology Female Genes, Recessive Heterozygote Humans Kidney/metabolism,physiology Kidney Concentrating Ability Male Membrane Proteins/chemistry,genetics,physiology Molecular Sequence Data Oocytes Pedigree Point Mutation Protein Structure, Secondary RNA, Complementary/genetics Water/metabolism Xenopus laevis

Chemicals

AQP2 protein, human Aquaporin 2 Aquaporin 6 Aquaporins Membrane Proteins RNA, Complementary Water Deamino Arginine Vasopressin

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Deen P M

Department of Cell Physiology, University of Nijmegen, Netherlands.

Verdijk M A

Knoers N V

Wieringa B

Monnens L A

van Os C H

van Oost B A

Article Info

Journal

Science (New York, N.Y.)

Abbr.

Science

ISSN

0036-8075

DOI

10.1126/science.8140421

Published

1994-04-01

Pages

92-5

Language

English

Region

United States

NLM ID

0404511

Subset

Databases

GENBANK

Z29491

External Links

PubMed source DOI: 10.1126/science.8140421 View journal details

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

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