PMID: 8945633Nov 1, 1996Paper

Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus

DNA and Cell Biology
G OliasH Schmale

Abstract

Familial hypothalamic diabetes insipidus is an autosomal dominant disorder characterized by deficient vasopressin synthesis. Different point mutations in the vasopressin-neurophysin (VP-NP) precursor gene have been found in affected families. In a Dutch kindred, a single G to T transversion in the NP-encoding exon B of one allele converts the highly conserved glycine 17 to a valine residue. In order to examine whether this point mutation affects the processing and transport of the VP-NP precursor, the normal (HV2) and mutant (MT6) vasopressin cDNAs were stably expressed in the mouse pituitary cell line AtT20. The normal precursor was correctly glycosylated and processed, and NP was detected in the culture medium. Secretion of NP was stimulated by 8-bromo-cAMP, indicating that the normal precursor was targeted to the regulated secretory pathway. In contrast, the mutant precursor was synthesized, but processing and secretion were dramatically reduced. The mutant precursor was core-glycosylated but remained endoglycosidase H-sensitive, suggesting that the protein did not reach the trans-Golgi network. These results were supported by immunocytochemical studies. In HV2 cells, NP derived from the precursor was concentrated in the tip...Continue Reading

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Citations

Jun 10, 2000·Journal of Neuroendocrinology·D A EvansJ P Burbach
May 5, 2000·Experimental Physiology·F D Grant
May 23, 2006·Seminars in Nephrology·Jane H Christensen, Søren Rittig
May 11, 2006·The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry·Mark W Fleck
Jan 27, 2009·Arquivos brasileiros de endocrinologia e metabologia·Maria Edna de MeloMirta Knoepfelmacher
Mar 21, 1998·Nature Genetics·A StrobelA D Strosberg
Jun 8, 2001·The Journal of Biological Chemistry·S EubanksE Breslow
Mar 5, 2004·The Journal of Biological Chemistry·Michael A FribergJonas Rutishauser
Apr 9, 2004·The Journal of Clinical Endocrinology and Metabolism·Justin T WahlstromWilliam J Kovacs

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