TY  - JOUR
A1  - Lundén, Anne
A1  - Marklund, Stefan
A1  - Gustafsson, Victoria
A1  - Andersson, Leif
T1  - A Nonsense Mutation in the FMO3 Gene Underlies Fishy Off-Flavor in Cow's Milk
Y1  - 2002/12/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1885 
EP  - 1888 
DO  - 10.1101/gr.240202 
VL  - 12 
IS  - 12 
UR  - http://genome.cshlp.org/content/12/12/1885.abstract 
N2  - 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 FMO3encoding 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.[The sequence data described in this paper have been submitted to GenBank with accession nos.AF488417–AF488422. The following individuals kindly provided reagents, samples, or unpublished information as indicated in the paper: K. Sandberg and I. Hansson.] 
ER  -