title: Missense and nonsense mutations of the flavin-containing monooxygenase 3 gene in a Japanese cohort.
abstract: We sequenced all exons and exon-intron junctions of the flavin-containing monooxygenase 3 (FMO3) gene from 3 Japanese individuals and their family members, who were case subjects that showed low FMO3 metabolic capacity among a population of self-reported trimethylaminuria Japanese volunteers (n=50). We found three novel single nucleotide polymorphisms (SNPs) (g. 20752 A>G, g. 27400 G>A, and g. 30308 C>T) causing an amino acid substitution and stop codons, Asn114Ser in exon 4, Trp388Stop in exon 7, and Gln470Stop in exon 9, respectively. The Trp388Stop and Gln470Stop also presented together with known SNPs, Val257Met and Glu158Lys, respectively, in the same alleles of the FMO3 gene to form novel haplotypes. These sequences are as follows: 1) SNP, 060825Shimizu004; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5'-TATCCAGTGTAAA/GTAAACATCCTGA-3'. 2) SNP, 060825Shimizu005; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5'-CCAGTCCCGCTGG/AGCAGCACAAGTA-3'. 3) SNP, 060825Shimizu006; GENE NAME, FMO3; ACCESSION NUMBER, AL021026; LENGTH, 25 base; 5'-TGTAGTCCCTACC/TAGTTTAGGCTGG-3'.
authors.affiliation: Laboratory of Drug Metabolism and Pharmacokinetics, Showa Pharmaceutical University, Tokyo, Japan.
authors.forename: Makiko
authors.initials: M
authors.lastname: Shimizu
authors.forename: Sachiko
authors.initials: S
authors.lastname: Tomioka
authors.forename: Norie
authors.initials: N
authors.lastname: Murayama
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yamazaki
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D015331:Cohort Studies; D005091:Exons; D006801:Humans; D007438:Introns; D007564:Japan; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010105:Oxygenases / Q000235:genetics*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D010105:Oxygenases; C020066:dimethylaniline monooxygenase (N-oxide forming)