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

abstract

• 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.

authors

• Andersson, Leif

published proceedings

• Genome Res

altmetric score

• 4.25

author list (cited authors)

• Lundn, A., Marklund, S., Gustafsson, V., & Andersson, L.

citation count

• 34

complete list of authors

• Lundén, Anne||Marklund, Stefan||Gustafsson, Victoria||Andersson, Leif

publication date

• December 2002

publisher

• Cold Spring Harbor Laboratory  Publisher

published in

• Genome Research  Journal

keywords

• Amino Acid Substitution
• Animals
• Arginine
• Cattle
• Codon, Nonsense
• Exons
• Female
• Genetic Carrier Screening
• Homozygote
• Humans
• Male
• Metabolism, Inborn Errors
• Methylamines
• Milk
• Molecular Sequence Data
• Oxygenases
• Reverse Transcriptase Polymerase Chain Reaction
• Sequence Analysis, DNA
• Taste

PubMed Central ID

• 12466292

Digital Object Identifier (DOI)

• 10.1101/gr.240202

start page

• 1885

end page

• 1888

volume

• 12

issue

• 12

URL

• http://dx.doi.org/10.1101/gr.240202