An X-linked NDI mutation reveals a requirement for cell surface V2R expression

Molecular Endocrinology
H SadeghiM Birnbaumer

Abstract

Function and biochemical properties of the V2 vasopressin receptor (V2R) mutant R337ter, identified in patients suffering from X-linked recessive nephrogenic diabetes insipidus, were investigated by expression in COS.M6 or HEK293 cells. Binding assays and measurements of adenylyl cyclase activity failed to detect function for the truncated receptor, although metabolic labeling demonstrated normal levels of protein synthesis. ELISA assays performed on cells expressing the receptors tagged at the amino terminus with the HA epitope failed to detect V2R R337ter on the plasma membrane. Treatment with endoglycosidase H revealed that the receptor was present only as a precursor form because the mature R337ter V2R, resistant to endoglycosidase H treatment, was not detected. The precursor of V2R-R337ter had a longer half-life than that of the wild type V2R, suggesting that arrested maturation may slow the degradation of the precursor. Unrelated experiments had demonstrated that V2R-G345ter, containing eight additional amino acids, was expressed on the plasma membrane and functioned normally. Receptor truncations longer than 337ter revealed that four of the eight amino acids identified initially provided the minimum length required for t...Continue Reading

References

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Citations

Apr 28, 2007·Circulation Research·Sudha K Shenoy
Mar 9, 2013·Molecular Endocrinology·Verónica Alonso, Peter A Friedman
Nov 7, 2014·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Takashi DaitsuYukihiro Hasegawa
Nov 28, 2017·Case Reports in Nephrology and Dialysis·Shivani JoshiJane Hvarregaard Christensen
May 5, 2000·Experimental Physiology·W G North
Jul 11, 2006·American Journal of Physiology. Renal Physiology·Joris H RobbenPeter M T Deen
Nov 6, 2004·The Journal of Biological Chemistry·Jessica RobertMaria Angeles Ventura

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