Lundén Anne, Marklund Stefan, Gustafsson Victoria, Andersson Leif
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Genome Res. 2002 Dec;12(12):1885-8. doi: 10.1101/gr.240202.
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.
人类的鱼腥味综合征或三甲胺尿症（OMIM #602079）是一种先天性代谢紊乱疾病，由于体液中三甲胺（TMA）水平升高，患者会散发出特征性的鱼腥味。该疾病由编码含黄素单加氧酶3的FMO3功能丧失性突变引起。牛奶中偶尔会出现鱼腥味，最近已证实这种表型是由于TMA水平升高所致。在此，我们报告牛奶中的鱼腥味是由牛FMO3直系同源基因中的一个无义突变（R238X）引起的。RT-PCR分析表明，突变转录本的含量非常低。令人惊讶的是，在一个牛品种中发现这种突变很常见（q = 0.155）。
