title: Genetic variations of the AHR gene encoding aryl hydrocarbon receptor in a Japanese population.
abstract: Aryl hydrocarbon receptor (AhR), encoded by the AHR gene, is a transcriptional factor that induces various drug metabolizing enzymes in response to diverse endogenous and exogenous ligands. In order to identify genetic variations of the AHR gene, genomic DNA from 242 Japanese individuals was sequenced. We identified 32 single nucleotide variations, including 25 novel ones [7 were in the coding exons, 7 in the introns, 1 in the 5'-untranslated region (UTR), 5 in the 3'-UTR, 2 in the 5'-flanking region, and 3 in the 3'-flanking region] and a GGGGC repeat polymorphism (a novel microsatellite marker) in the promoter region. The novel nonsynonymous variations were 50A>C (Lys17Thr), 1202A>G (Lys401Arg), 1459A>G (Asn487Asp), and 1541T>C (Ile514Thr). The allele frequencies were 0.010 for 1459A>G (Asn487Asp) and 0.002 for the other 3 variations. Also detected in this analysis was the known nonsynonymous single nucleotide polymorphism 1661G>A (Arg554Lys) at a 0.444 frequency.
authors.affiliation: Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
authors.forename: Hiromi
authors.initials: H
authors.lastname: Fukushima-Uesaka
authors.forename: Kimie
authors.initials: K
authors.lastname: Sai
authors.forename: Keiko
authors.initials: K
authors.lastname: Maekawa
authors.forename: Satoru
authors.initials: S
authors.lastname: Koyano
authors.forename: Nahoko
authors.initials: N
authors.lastname: Kaniwa
authors.forename: Shogo
authors.initials: S
authors.lastname: Ozawa
authors.forename: Manabu
authors.initials: M
authors.lastname: Kawamoto
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Kamatani
authors.forename: Kazuo
authors.initials: K
authors.lastname: Komamura
authors.forename: Shiro
authors.initials: S
authors.lastname: Kamakura
authors.forename: Masafumi
authors.initials: M
authors.lastname: Kitakaze
authors.forename: Hitonobu
authors.initials: H
authors.lastname: Tomoike
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Ueno
authors.forename: Hironobu
authors.initials: H
authors.lastname: Minami
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ohtsu
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Shirao
authors.forename: Teruhiko
authors.initials: T
authors.lastname: Yoshida
authors.forename: Nagahiro
authors.initials: N
authors.lastname: Saijo
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Saito
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Sawada
mesh_terms: D044466:Asian People / Q000235:genetics*; D051792:Basic Helix-Loop-Helix Proteins; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D018336:Receptors, Aryl Hydrocarbon / Q000235:genetics*
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D018336:Receptors, Aryl Hydrocarbon; C111235:AHR protein, human