Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus
N Beuret, J Rutishauser, MD Bider, M Spiess - Journal of Biological …, 1999 - ASBMB
Autosomal dominant neurohypophyseal diabetes insipidus is caused by mutations in the
gene encoding the vasopressin precursor protein, prepro-vasopressin-neurophysin II. We
analyzed the molecular consequences of a mutation (ΔG227) recently identified in a Swiss
kindred that destroys the translation initiation codon. In COS-7 cells transfected with the
mutant cDNA, translation was found to initiate at an alternative ATG, producing a truncated
signal sequence that was functional for targeting and translocation but was not cleaved by …
gene encoding the vasopressin precursor protein, prepro-vasopressin-neurophysin II. We
analyzed the molecular consequences of a mutation (ΔG227) recently identified in a Swiss
kindred that destroys the translation initiation codon. In COS-7 cells transfected with the
mutant cDNA, translation was found to initiate at an alternative ATG, producing a truncated
signal sequence that was functional for targeting and translocation but was not cleaved by …
