Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population.

Yamazaki, Hiroshi; Fujita, Haruka; Gunji, Takaaki; Zhang, Jun; Kamataki, Tetsuya; Cashman, John R.; Shimizu, Makiko

Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population.

Yamazaki, Hiroshi; Fujita, Haruka; Gunji, Takaaki et al.

Molecular Genetics and Metabolism, 2007, 90(1), 58-63

Permalink : https://hdl.handle.net/2115/17244

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アクセス権	open access
URI	https://hdl.handle.net/2115/17244
タイトル	Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population.
著者	Yamazaki, Hiroshi ; Fujita, Haruka ; Gunji, Takaaki ; Zhang, Jun ; Kamataki, Tetsuya ; Cashman, John R. ; Shimizu, Makiko
著者名 Yamazaki, Hiroshi
著者名 Fujita, Haruka
著者名 Gunji, Takaaki
著者名 Zhang, Jun
著者名 Kamataki, Tetsuya
著者名 Cashman, John R.
著者名 Shimizu, Makiko
言語	英語
キーワード	Flavin-containing monooxygenase
	Fish-like odor syndrome
	Trimethylamine
	Truncated FMO3
	Japanese
	Trimethylaminuria
発行日	2007-01
出版者	Elsevier Inc.
収録物名	Molecular Genetics and Metabolism
巻(号)	90(1)
ページ	58-63
抄録	The reduced capacity of flavin-containing monooxygenase 3 (FMO3) to N-oxidize trimethylamine (TMA) is believed to cause a metabolic disorder. The aim of this study was to investigate the inter-individual variations of FMO3. Genomic DNA of case subjects that showed only 10–20% of FMO3 metabolic capacity among self-reported trimethylaminuria Japanese volunteers was sequenced. Functional analysis of recombinant FMO3 proteins was also performed. One homozygote for a novel single nucleotide substitution causing a stop codon at Arg500 was observed. The biological parents of this Proband A were heterozygous and showed >90% TMA N-oxygenation metabolic capacity. Another Proband B had the Arg500Stop and Cys197Stop codons. The TMA N-oxygenation metabolic capacities of the father and brother of this Proband B were apparently observed by possessing Arg205Cys mutant that coded for decreased TMA N-oxygenase. Recombinant Arg500Stop FMO3 cDNA expressed in Escherichia coli membranes and a series of highly purified truncation mutants at different positions of the C-terminus of FMO3 showed no detectable functional activity toward typical FMO3 substrates. The results suggest that individuals homozygous for either of the nonsense mutations, Arg500Stop and/or Cys197Stop alleles, in the FMO3 gene can possess abnormal TMA N-oxygenation.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
PISSN	1096-7192
EISSN	1096-7206
関連情報	PMID 16996766
関連情報	URI http://www.sciencedirect.com/science/journal/10967192
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1016/j.ymgme.2006.08.008