title: Eleven novel single nucleotide polymorphisms in the NR1I2 (PXR) gene, four of which induce non-synonymous amino acid alterations.
abstract: Eleven novel single nucleotide polymorphisms (SNPs) were found in the NR1I2 (PXR/SXR) gene from 205 Japanese subjects. The detected SNPs were as follows: 1) SNP, MPJ6_1I2001; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-TTTCTACCTCTAC/TTATTGAAAGGGC-3'. 2) SNP, MPJ6_1I2004; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-AGGCCCAAATGTG/AAGTGATGCATAG-3'. 3) SNP, MPJ6_1I2007; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-TGCCAGGCCTGCC/TGCCTGCGCAAGT-3'. 4) SNP, MPJ6_1I2008; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-GAGTGAGCAGTGG/CGCGCGCGGGCGG-3'. 5) SNP, MPJ6_1I2010; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-CAGAGGAGCAGCG/AGATGATGATCAG-3'. 6) SNP, MPJ6_1I2011; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-CTGGAAGTGGCCA/GGGAGGTTCAAAG-3'. 7) SNP, MPJ6_1I2013; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-TCTTCCTCTCGCC/TCCCAACTTCTGG-3'. 8) SNP, MPJ6_1I2017; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-ATTGAATGCAATC/TGGCCCCAGCCTG-3'. 9) SNP, MPJ6_1I2018; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-GGTGAGCACAGCA/GGGGGGTGAGGAC-3'. 10) SNP, MPJ6_1I2019; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-GAGCTCCGCAGCA/GTCAATGCTCAGC-3'. 11) SNP, MPJ6_1I2021; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-GGTGACACCTCCG/AAGAGGCAGCCAG-3'. The frequencies were 0.0293 for MPJ6_1I2021, 0.0073 for MPJ6_1I2011, and 0.0024 for the other 9 SNPs. All SNPs were found as heterozygous. Among these SNPs, MPJ6_1I2007, MPJ6_1I2010, MPJ6_1I2017 and MPJ6_1I2019 induce non-synonymous amino acid alterations (R98C, R148Q, R381W and I403V, respectively, in PAR1).
authors.affiliation: Project team for Pharmacogenetics, National Institute of Health Sciences, Tokyo, Japan. skoyano@nihs.go.jp
authors.forename: Satoru
authors.initials: S
authors.lastname: Koyano
authors.forename: Kouichi
authors.initials: K
authors.lastname: Kurose
authors.forename: Shogo
authors.initials: S
authors.lastname: Ozawa
authors.forename: Mayumi
authors.initials: M
authors.lastname: Saeki
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Nakajima
authors.forename: Ryuichi
authors.initials: R
authors.lastname: Hasegawa
authors.forename: Kazuo
authors.initials: K
authors.lastname: Komamura
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Ueno
authors.forename: Shiro
authors.initials: S
authors.lastname: Kamakura
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Nakajima
authors.forename: Hirohisa
authors.initials: H
authors.lastname: Saito
authors.forename: Hideo
authors.initials: H
authors.lastname: Kimura
authors.forename: Yu-ichi
authors.initials: Y
authors.lastname: Goto
authors.forename: Osamu
authors.initials: O
authors.lastname: Saitoh
authors.forename: Masaaki
authors.initials: M
authors.lastname: Katoh
authors.forename: Teiichi
authors.initials: T
authors.lastname: Ohnuma
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Kawai
authors.forename: Kenji
authors.initials: K
authors.lastname: Sugai
authors.forename: Taisuke
authors.initials: T
authors.lastname: Ohtsuki
authors.forename: Chieko
authors.initials: C
authors.lastname: Suzuki
authors.forename: Narihiro
authors.initials: N
authors.lastname: Minami
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Saito
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Sawada