Genetic variations of the AHR gene encoding aryl hydrocarbon receptor in a Japanese population.
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.
Fukushima-Uesaka
Hiromi
H
Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan.
Sai
Kimie
K
Maekawa
Keiko
K
Koyano
Satoru
S
Kaniwa
Nahoko
N
Ozawa
Shogo
S
Kawamoto
Manabu
M
Kamatani
Naoyuki
N
Komamura
Kazuo
K
Kamakura
Shiro
S
Kitakaze
Masafumi
M
Tomoike
Hitonobu
H
Ueno
Kazuyuki
K
Minami
Hironobu
H
Ohtsu
Atsushi
A
Shirao
Kuniaki
K
Yoshida
Teruhiko
T
Saijo
Nagahiro
N
Saito
Yoshiro
Y
Sawada
Jun-ichi
J
D044466:Asian People / Q000235:genetics*; D051792:Basic Helix-Loop-Helix Proteins; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D018336:Receptors, Aryl Hydrocarbon / Q000235:genetics*
D051792:Basic Helix-Loop-Helix Proteins; D018336:Receptors, Aryl Hydrocarbon; C111235:AHR protein, human