Structural organization of the human flavin-containing monooxygenase 3 gene (FMO3), the favored candidate for fish-odor syndrome, determined directly from genomic DNA

C T Dolphin, J H Riley, R L Smith, E A Shephard, I R Phillips, Colin Dolphin

Research output: Contribution to journalArticlepeer-review

54 Citations (Scopus)

Abstract

The inherited metabolic disorder trimethylaminuria (fish-odor syndrome) is associated with defective hepatic N-oxidation of dietary-derived trimethylamine catalyzed by flavin-containing monooxygenase (FMO). As FMO3 encodes the major form of FMO expressed in adult human liver, it represents the best candidate gene for the disorder. The structural organization of FMO3 was determined by sequencing the products of exon-to-exon and vectorette PCR, the latter through the use of vectorette libraries constructed directly from genomic DNA. The gene contains one noncoding and eight coding exons. Knowledge of the exon/intron organization of the human FMO3 gene enabled each of the coding exons of the gene, together with their associated flanking intron sequences, to be amplified from genomic DNA and will thus facilitate the identification of mutations in FMO3 in families affected with fish-odor syndrome.
Original languageEnglish
Pages (from-to)260-7
Number of pages8
JournalGenomics
Volume46
Issue number2
DOIs
Publication statusPublished - 1 Dec 1997

Keywords

  • Exons
  • Flavin-Adenine Dinucleotide
  • Humans
  • Introns
  • Metabolism, Inborn Errors
  • Methylamines
  • Molecular Sequence Data
  • NADP
  • Odors
  • Oxygenases
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA

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