Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.

@article{Ito1993PossibleIO,
  title={Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.},
  author={Mitsuaki Ito and Yutaka Oiso and Toshio Murase and Kazunari Kondo and Hirohisa Saito and Tadanobu Chinzei and Milvia Luisa Racchi and Mark O. Lively},
  journal={The Journal of clinical investigation},
  year={1993},
  volume={91 6},
  pages={2565-71}
}
A transition of G to A at nucleotide position 279 in exon 1 of the vasopressin gene has been identified in patients with familial central diabetes insipidus. The mutation predicts an amino acid substitution of Thr (ACG) for Ala (GCG) at the COOH terminus of the signal peptide in preprovasopression (preproVP). Translation in vitro of wild-type and mutant mRNAs produced 19-kD preproVPs. When translated in the presence of canine pancreatic rough microsomes, wild-type preproVP was converted to a 21… CONTINUE READING

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