Molecular basis for the deficiency in humans of gulonolactone oxidase, a key enzyme for ascorbic acid biosynthesis

Am J Clin Nutr. 1991 Dec;54(6 Suppl):1203S-1208S. doi: 10.1093/ajcn/54.6.1203s.

Abstract

The inability of humans to synthesize L-ascorbic acid is known to be due to a lack of L-gulono-gamma-lactone oxidase, an enzyme that is required for the biosynthesis of this vitamin. Isolation of a cDNA for rat L-gulono-gamma-lactone oxidase allowed us to study the basic defect underlying this deficiency at the gene level and led to isolation of a human genomic clone related to L-gulono-gamma-lactone oxidase as well as three overlapping clones covering the entire coding region of the rat L-gulono-gamma-lactone oxidase cDNA. Sequence analysis study indicated that the human L-gulono-gamma-lactone oxidase gene has accumulated a large number of mutations since it stopped being active and that it now exists as a pseudogene in the human genome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Ascorbic Acid / biosynthesis*
  • Base Sequence
  • Cloning, Molecular
  • DNA / genetics
  • Genes
  • Humans
  • L-Gulonolactone Oxidase
  • Molecular Biology
  • Molecular Sequence Data
  • Sugar Alcohol Dehydrogenases / deficiency*
  • Sugar Alcohol Dehydrogenases / genetics
  • Sugar Alcohol Dehydrogenases / metabolism

Substances

  • DNA
  • Sugar Alcohol Dehydrogenases
  • L-Gulonolactone Oxidase
  • Ascorbic Acid