ArticleThe Journal of clinical investigation1995
Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
Article in The Journal of clinical investigation, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 85 citations in OpenAlex.
- Exploring the diversity of AVPR2 in Primates and its evolutionary implications.Genetics and molecular biology · 2023Article
- Refractory Massive Ascites: An Unusual Presentation of Nephrogenic Diabetes Insipidus.Kidney international reports · 2022Article
- A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree.The Journal of international medical research · 2016Article
- Protein traffic disorders: an effective high-throughput fluorescence microscopy pipeline for drug discovery.Scientific reports · 2015Article
- X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy.Balkan journal of medical genetics : BJMG · 2014Article
- Inside job: ligand-receptor pharmacology beneath the plasma membrane.Acta pharmacologica Sinica · 2013Review
- Congenital nephrogenic diabetes insipidus: the current state of affairs.Pediatric nephrology (Berlin, Germany) · 2012Review
- Analysis of a novel AVPR2 mutation in a family with nephrogenic diabetes insipidus.International journal of clinical and experimental medicine · 2011Article
- The nuclear translocation assay for intracellular protein-protein interactions and its application to the Bcr coiled-coil domain.BioTechniques · 2010Article
- Biased agonist pharmacochaperones of the AVP V2 receptor may treat congenital nephrogenic diabetes insipidus.Journal of the American Society of Nephrology : JASN · 2009Article
- Cell surface delivery and structural re-organization by pharmacological chaperones of an oligomerization-defective alpha(1b)-adrenoceptor mutant demonstrates membrane targeting of GPCR oligomers.The Biochemical journal · 2009Article
- Regulation of CB1 cannabinoid receptor trafficking by the adaptor protein AP-3.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2008Article
- Controlling protein compartmentalization to overcome disease.Pharmaceutical research · 2007Review
- Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.The Journal of clinical investigation · 2000Article
- Study of V2 vasopressin receptor hormone binding site using in silico methods.Research in pharmaceutical sciencesArticle
- Effect of mutations in putative hormone binding sites on V2 vasopressin receptor function.Research in pharmaceutical sciencesArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nephrogenic diabetes insipidus (NDI) is most often an X-linked disorder in which urine is not concentrated due to renal resistance to arginine vasopressin. We recently identified four vasopressin type 2 receptor gene mutations in unrelated X-linked NDI families, including R143P, delta V278, R202C, and 804insG. All these mutations reduced ligand binding activity to < 10% of the normal without affecting mRNA accumulation. To elucidate whether the receptors are expressed on the cell surface, we analyzed biosynthesis and localization of tagged or untagged receptors stably expressed in Chinese hamster ovary (CHO) cells, using two antibodies directed against distinct termini. Whole-cell and surface labeling studies revealed that the R202C clone had both surface-localized (50-55 kD) and intracellular proteins (40 and 75 kD), similar to the wild-type AVPR2 clone, whereas the R143P and delta V278 clones lacked the surface receptors, despite relatively increased intracellular components. The 804insG mutant cell produced no proteins despite an adequate mRNA level. Immunofluorescence staining confirmed that the R202C mutant reaches the cell surface, whereas the R143P and delta V278 mutants are retained within the cytoplasmic compartment. Thus, R202C, R143P/delta V278, and 804insG result in three distinct phenotypes, that is, a simple binding impairment at the cell surface, blocked intracellular transport, and ineffective biosynthesis or/and accelerated degradation of the receptor, respectively, and therefore are responsible for NDI. This phenotypic classification will help understanding of molecular pathophysiology of this disorder.
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