OMIA 002268-10141 : Vitamin C deficiency in Cavia porcellus

In other species: pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 240400 (trait)

Mendelian trait/disorder: yes

Considered a defect: no

Key variant known: no

Species-specific name: Guinea pigs are unable to synthesize L-ascorbic acid; thus they require vitamin C in their diet to prevent scurvy (Burns et al., 1956).

Molecular basis: Nishikimi et al. (1992): "the guinea pig homologue of the L-gulono-gamma-lactone oxidase gene exists as a pseudogene that randomly accumulated a large number of mutations without functional constraint since the gene ceased to be active during evolution."

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
1992 Nishikimi, M., Kawai, T., Yagi, K. :
Guinea pigs possess a highly mutated gene for L-gulono-gamma-lactone oxidase, the key enzyme for L-ascorbic acid biosynthesis missing in this species. J Biol Chem 267:21967-72, 1992. Pubmed reference: 1400507.
1957 BURNS, J.J. :
Missing step in man, monkey and guinea pig required for the biosynthesis of L-ascorbic acid. Nature 180:553, 1957. Pubmed reference: 13477232. DOI: 10.1038/180553a0.
1956 BURNS, J.J., MOLTZ, A., PEYSER, P. :
Missing step in guinea pigs required for the biosynthesis of L-ascorbic acid. Science 124:1148-9, 1956. Pubmed reference: 13380431. DOI: 10.1126/science.124.3232.1148-a.

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  • Created by Imke Tammen2 on 17 Sep 2022