Eleven Novel Single Nucleotide Polymorphisms in the NR1I2 (PXR) Gene, Four of which Induce Non-synonymous Amino Acid Alterations

Satoru KOYANO; Kouichi KUROSE; Shogo OZAWA; Mayumi SAEKI; Yukiko NAKAJIMA; Ryuichi HASEGAWA; Kazuo KOMAMURA; Kazuyuki UENO; Shiro KAMAKURA; Toshiharu NAKAJIMA; Hirohisa SAITO; Hideo KIMURA; Yu-ichi GOTO; Osamu SAITOH; Masaaki KATOH; Teiichi OHNUMA; Mitsuru KAWAI; Kenji SUGAI; Taisuke OHTSUKI; Chieko SUZUKI; Narihiro MINAMI; Yoshiro SAITO; Jun-ichi SAWADA

doi:10.2133/dmpk.17.561

SNP Communications

Eleven Novel Single Nucleotide Polymorphisms in the NR1I2 (PXR) Gene, Four of which Induce Non-synonymous Amino Acid Alterations

Satoru KOYANO, Kouichi KUROSE, Shogo OZAWA, Mayumi SAEKI, Yukiko NAKAJIMA, Ryuichi HASEGAWA, Kazuo KOMAMURA, Kazuyuki UENO, Shiro KAMAKURA, Toshiharu NAKAJIMA, Hirohisa SAITO, Hideo KIMURA, Yu-ichi GOTO, Osamu SAITOH, Masaaki KATOH, Teiichi OHNUMA, Mitsuru KAWAI, Kenji SUGAI, Taisuke OHTSUKI, Chieko SUZUKI, Narihiro MINAMI, Yoshiro SAITO, Jun-ichi SAWADA

Author information

Satoru KOYANO
Project team for Pharmacogenetics, National Institute of Health Sciences
Kouichi KUROSE
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Medicinal Safety Science, National Institute of Health Sciences
Shogo OZAWA
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Pharmacology, National Institute of Health Sciences
Mayumi SAEKI
Project team for Pharmacogenetics, National Institute of Health Sciences
Yukiko NAKAJIMA
Project team for Pharmacogenetics, National Institute of Health Sciences
Ryuichi HASEGAWA
Division of Medicinal Safety Science, National Institute of Health Sciences
Kazuo KOMAMURA
Division of Cardiology, National Cardiovascular Center
Department of Cardiovascular Dynamics Research Institute, National Cardiovascular Center
Kazuyuki UENO
Department of Pharmacy, National Cardiovascular Center
Shiro KAMAKURA
Division of Cardiology, National Cardiovascular Center
Toshiharu NAKAJIMA
Department of Allergy and Immunology, National Research Institute for Child Health and Development, National Center for Child Health and Development
Hirohisa SAITO
Department of Allergy and Immunology, National Research Institute for Child Health and Development, National Center for Child Health and Development
Hideo KIMURA
National Institute of Neuroscience, National Center for Neurology and Psychiatry
Yu-ichi GOTO
National Institute of Neuroscience, National Center for Neurology and Psychiatry
Osamu SAITOH
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Masaaki KATOH
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Teiichi OHNUMA
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Mitsuru KAWAI
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Kenji SUGAI
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Taisuke OHTSUKI
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Chieko SUZUKI
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Narihiro MINAMI
National Institute of Neuroscience, National Center for Neurology and Psychiatry
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center for Neurology and Psychiatry
Yoshiro SAITO
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Biochemistry and Immunochemistry, National Institute of Health Sciences
Jun-ichi SAWADA
Project team for Pharmacogenetics, National Institute of Health Sciences
Division of Biochemistry and Immunochemistry, National Institute of Health Sciences

Keywords: NR1I2 (PXR/SXR), intron, novel SNP, amino acid alteration

JOURNAL FREE ACCESS

2002 Volume 17 Issue 6 Pages 561-565

DOI https://doi.org/10.2133/dmpk.17.561

Details

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).

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