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Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing.
Deen PM, Croes H, van Aubel RA, Ginsel LA, van Os CH.
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Congenital nephrogenic diabetes insipidus is a recessive hereditary disorder characterized by the inability of the kidney to concentrate urine in response to vasopressin. Recently, we reported mutations in the gene encoding the water channel of the collecting duct, aquaporin-2 (AQP-2) causing an autosomal recessive form of nephrogenic diabetes insipidus (NDI). Expression of these mutant AQP-2 proteins (Gly64Arg, Arg187Cys, Ser216Pro) in Xenopus oocytes revealed nonfunctional water channels. Here we report further studies into the inability of these missense AQP-2 proteins to facilitate water transport in Xenopus oocytes. cRNAs encoding the missense AQPs were translated with equal efficiency as cRNAs encoding wild-type AQP-2 and were equally stable. Arg187Cys AQP2 was more stable and Gly6-4Arg and Ser216Pro AQP2 were less stable when compared to wild-type AQP2 protein. On immunoblots, oocytes expressing missense AQP-2 showed, besides the wild-type 29 kDa band, an endoplasmic reticulum-retarded form of AQP-2 of approximately 32 kD. Immunoblots and immunocytochemistry demonstrated only intense labeling of the plasma membranes of oocytes expressing wild-type AQP-2. Therefore, we conclude that in Xenopus oocytes the inability of Gly64-Arg, Arg187Cys or Ser216Pro substituted AQP-2 proteins to facilitate water transport is caused by an impaired routing to the plasma membrane.
Agre,
Aquaporin CHIP: the archetypal molecular water channel.
1993, Pubmed,
Xenbase
Agre,
Aquaporin CHIP: the archetypal molecular water channel.
1993,
Pubmed
,
Xenbase Amara,
Intracellular protein trafficking defects in human disease.
1992,
Pubmed Bonifacino,
Degradation of proteins within the endoplasmic reticulum.
1991,
Pubmed Cheng,
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.
1990,
Pubmed Chomczynski,
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.
1987,
Pubmed Davis,
Brain ankyrin. Purification of a 72,000 Mr spectrin-binding domain.
1984,
Pubmed Deen,
Isolation of a cDNA for rat CHIP28 water channel: high mRNA expression in kidney cortex and inner medulla.
1992,
Pubmed Deen,
Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine.
1994,
Pubmed
,
Xenbase Drumm,
Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes.
1991,
Pubmed
,
Xenbase Feinberg,
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.
1983,
Pubmed Fushimi,
Cloning and expression of apical membrane water channel of rat kidney collecting tubule.
1993,
Pubmed
,
Xenbase Halban,
Sorting and processing of secretory proteins.
1994,
Pubmed Jung,
Molecular structure of the water channel through aquaporin CHIP. The hourglass model.
1994,
Pubmed
,
Xenbase Laemmli,
Cleavage of structural proteins during the assembly of the head of bacteriophage T4.
1970,
Pubmed Langley,
Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus.
1991,
Pubmed Nielsen,
Cellular and subcellular immunolocalization of vasopressin-regulated water channel in rat kidney.
1993,
Pubmed Nishimura,
Kinetics of GLUT1 and GLUT4 glucose transporters expressed in Xenopus oocytes.
1993,
Pubmed
,
Xenbase Pan,
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
1992,
Pubmed Pelham,
Control of protein exit from the endoplasmic reticulum.
1989,
Pubmed Preston,
Appearance of water channels in Xenopus oocytes expressing red cell CHIP28 protein.
1992,
Pubmed
,
Xenbase Preston,
The mercury-sensitive residue at cysteine 189 in the CHIP28 water channel.
1993,
Pubmed
,
Xenbase Preston,
Isolation of the cDNA for erythrocyte integral membrane protein of 28 kilodaltons: member of an ancient channel family.
1991,
Pubmed Rosenthal,
Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus.
1992,
Pubmed Sasaki,
Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct.
1994,
Pubmed
,
Xenbase Scherly,
Identification of the RNA binding segment of human U1 A protein and definition of its binding site on U1 snRNA.
1989,
Pubmed
,
Xenbase Schielen,
The sequence A alpha-(148-160) in fibrin, but not in fibrinogen, is accessible to monoclonal antibodies.
1989,
Pubmed Sigel,
Use of Xenopus oocytes for the functional expression of plasma membrane proteins.
1990,
Pubmed
,
Xenbase van den Ouweland,
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
1992,
Pubmed van Lieburg,
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
1994,
Pubmed
,
Xenbase Wall,
Isolation of plasma membrane complexes from Xenopus oocytes.
1989,
Pubmed
,
Xenbase Ware,
Sequence analysis of 28S ribosomal DNA from the amphibian Xenopus laevis.
1983,
Pubmed
,
Xenbase White,
The insulin signaling system.
1994,
Pubmed
