Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus

The Journal of Clinical Endocrinology and Metabolism
Jane H ChristensenSøren Rittig

Abstract

An unusual mutation in the arginine vasopressin (AVP) gene, predicting a P26L amino acid substitution of the AVP prohormone, is associated with autosomal recessive familial neurohypophyseal diabetes insipidus (FNDI). To investigate whether the cellular handling of the P26L prohormone differed from that of the Y21H prohormone associated with autosomal dominant inheritance of FNDI, the mutations were examined by heterologous expression in cell lines. Immunoprecipitation demonstrated retarded processing and secretion of the Y21H prohormone, whereas the secretion of the P26L prohormone seemed to be unaffected. Confocal laser scanning microscopy showed accumulation of the Y21H prohormone in the endoplasmic reticulum, whereas the P26L prohormone and/or processed products were localized in secretory granules in the cellular processes. RIA analysis showed reduced amounts of immunoreactive Y21H-AVP and P26L-AVP in the cell culture medium. Thus, the recessive mutation does not seem to affect the intracellular trafficking but rather the final processing of the prohormone. Our results provide an important negative control in support of the hypothesis that autosomal dominant inheritance of FNDI is caused by mutations in the AVP gene that al...Continue Reading

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Citations

May 26, 2006·Annual Review of Genomics and Human Genetics·Niels GregersenJane H Christensen
Jul 26, 2015·Journal of Endocrinological Investigation·M IlhanE Tasan
Feb 16, 2008·European Journal of Pharmacology·Elisabeth Frank, Rainer Landgraf
Apr 24, 2012·Annales d'endocrinologie·Daniel G Bichet
May 23, 2006·Seminars in Nephrology·Jane H Christensen, Søren Rittig
Sep 29, 2006·Expert Review of Anticancer Therapy·Shanika Samarasinghe, Tamara Vokes
Apr 25, 2007·Journal of Pediatric Endocrinology & Metabolism : JPEM·Stefano GhirardelloMohamad Maghnie
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Sep 1, 2005·Journal of Pediatric Endocrinology & Metabolism : JPEM·Stefano GhirardelloMohamad Maghnie
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Jan 12, 2021·Chemical Reviews·Jovan DamjanovicYu-Shan Lin
Sep 19, 2014·The Journal of Physical Chemistry. B·Eugene YedvabnyTeresa Head-Gordon

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