Missense and nonsense mutations of the flavin-containing monooxygenase 3 gene in a Japanese cohort

被引：12

作者：

Shimizu, Makiko ^{[1
]}

Tomioka, Sachiko ^{[1
]}

Murayama, Norie ^{[1
]}

Yamazaki, Hiroshi ^{[1
]}

机构：

[1] Showa Pharmaceut Univ, Lab Drug Met & Pharmacokinet, Tokyo 1948543, Japan

来源：

DRUG METABOLISM AND PHARMACOKINETICS | 2007年 / 22卷 / 01期

关键词：

FMO3; trimethylaminuria; fish-like odor syndrome; genetic polymorphism; Japanese;

D O I：

10.2133/dmpk.22.61

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

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, Asn(114)Ser in exon 4, Trp(388)Stop in exon 7, Gln(470)Stop in exon 9, respectively. The Trp(388)Stop and Gln(470)Stop also presented together with known SNPs, Val(257)Met and Glu(158)Lys, respectively, in the same alleles of the FMO3 gene to form novel haplotypes.

引用

页码：61 / 64

页数：4

共 40 条

[11] A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria
Allerston, C. K.
Vetti, H. H.
Houge, G.
Phillips, I. R.
Shephard, E. A.
MOLECULAR GENETICS AND METABOLISM, 2009, 98 (1-2) : 198 - 202
[12] Human flavin-containing monooxygenase (form 3): polymorphisms and variations in chemical metabolism
Cashman, JR
PHARMACOGENOMICS, 2002, 3 (03) : 325 - 339
[13] Benzydamine metabolism in vivo is impaired in patients with deficiency of flavin-containing monooxygenase 3
Mayatepek, E
Flock, B
Zschocke, J
PHARMACOGENETICS, 2004, 14 (11): : 775 - 777
[14] Inter-individual Variation in Flavin-containing Monooxygenase 3 in Livers from Japanese: Correlation with Hepatic Transcription Factors
Nagashima, Satomi
Shimizu, Makiko
Yano, Hiroshi
Murayama, Norie
Kumai, Toshio
Kobayashi, Shinichi
Guengerich, F. Peter
Yamazaki, Hiroshi
DRUG METABOLISM AND PHARMACOKINETICS, 2009, 24 (03) : 218 - 225
[15] Human flavin-containing monooxygenase 3: Structural mapping of gene polymorphisms and insights into molecular basis of drug binding
Gao, Chongliang
Catucci, Gianluca
Di Nardo, Giovanna
Gilardi, Gianfranco
Sadeghi, Sheila J.
GENE, 2016, 593 (01) : 91 - 99
[16] Potential for drug interactions mediated by polymorphic flavin-containing monooxygenase 3 in human livers
Shimizu, Makiko
Shiraishi, Arisa
Sato, Ayumi
Nagashima, Satomi
Yamazaki, Hiroshi
DRUG METABOLISM AND PHARMACOKINETICS, 2015, 30 (01) : 70 - 74
[17] Variants of Flavin-Containing Monooxygenase 3 Found in Subjects in an Updated Database of Genome Resources
Makiguchi, Miaki
Shimizu, Makiko
Yokota, Yuka
Shimamura, Erika
Hishinuma, Eiji
Saito, Sakae
Hiratsuka, Masahiro
Yamazaki, Hiroshi
DRUG METABOLISM AND DISPOSITION, 2023, 51 (07) : 884 - 891
[18] A series of simple detection systems for genetic variants of flavin-containing monooxygenase 3 (FMO3) with impaired function in Japanese subjects
Shimizu, Makiko
Mizugaki, Ami
Koibuchi, Natsumi
Sango, Haruna
Uenuma, Yumi
Yamazaki, Hiroshi
DRUG METABOLISM AND PHARMACOKINETICS, 2021, 41
[19] Individual Differences of Drug-metabolizing Enzymes as Determinants for the Metabolic Fate of Chemicals-A Study of Trimethylamine and Flavin-containing Monooxygenase 3
Shimizu, Makiko
YAKUGAKU ZASSHI-JOURNAL OF THE PHARMACEUTICAL SOCIETY OF JAPAN, 2009, 129 (11): : 1351 - 1356
[20] Genetic polymorphism of the flavin-containing monooxygenase 3 (FMO3) associated with trimethylaminuria (fish odor syndrome):: Observations from Japanese patients
Yamazaki, Hiroshi
Shimizu, Makiko
CURRENT DRUG METABOLISM, 2007, 8 (05) : 487 - 491

← 1 2 3 4 →