Eleven Novel Single Nucleotide Polymorphisms in the NRH2 (PXR) Gene, Pour of which Induce Non-synonymous Amino Acid Alterations

• Published in: Drug metabolism and pharmacokinetics 2002, Vol.17 (6), p.561-565
• Main Authors: Koyano, Satoru, Kurose, Kouichi, Ozawa, Shogo, Saeki, Mayumi, Nakajima, Yukiko, Hasegawa, Ryuichi, Komamura, Kazuo, Ueno, Kazuyuki, Kamakura, Shiro, Nakajima, Toshiharu, Saito, Hirohisa, Kimura, Hideo, Goto, Yu-ichi, Saitoh, Osamu, Katoh, Masaaki, Ohnuma, Teiichi, Kawai, Mitsuru, Sugai, Kenji, Ohtsuki, Taisuke, Suzuki, Chieko, Minami, Narihiro, Saito, Yoshiro, Sawada, Jun-ichi
• Format: Article
• Language: English
• Subjects: amino acid alteration; intron; novel SNP; NR1I2 (PXR/SXR)
• ISSN: 1347-4367; 1880-0920
• DOI: 10.2133/dmpk.17.561

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_H2019; 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).