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    Genome Res. 2002 Dec;12(12):1885-8.

    A nonsense mutation in the FMO3 gene underlies fishy off-flavor in cow's milk.

    Lundén A, Marklund S, Gustafsson V, Andersson L.

    Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.

    Fish-odor syndrome or Trimethylaminuria (OMIM #602079) in humans is an inborn error of metabolism associated with a characteristic fishy body odor due to elevated levels of trimethylamine (TMA) in body fluids. It is caused by loss-of-function mutations in FMO3 encoding flavin-containing mono-oxygenase 3. A fishy off-flavor is occasionally observed in cow's milk and it has been established recently that this phenotype is due to elevated TMA levels. Here, we report that fishy off-flavor in cow's milk is caused by a nonsense mutation (R238X) in the bovine FMO3 ortholog. RT-PCR analysis indicated that the mutant transcript is present in a very low amount. The mutation was found to be surprisingly common (q = 0.155) in one breed of cattle.

    PMID: 12466292 [PubMed - indexed for MEDLINE]

    PMCID: 187563

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