Eleven Novel Single Nucleotide Polymorphisms in the NR112 (PXR) Gene. Four of which Induce Non-synonymous Amino Acid Alterations

• Published in: DRUG METABOLISM AND PHARMACOKINETICS 2002, Vol.17 (6), p.561-565
• Main Authors: 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, Junichi SAWADA
• Format: Article
• Language: Japanese
• ISSN: 1347-4367

Eleven novel single nucleotide polymorphisms (SNPs) were found in the NR112 (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_112007; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; bases; 5'-TGCCAGGCCTGCC /TGCCTGCGCAAGT-3' LENGTH , 25 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'-GAGCTCCGCAGC A/G TCAATGCTCAGC-3, 11) SNP, MPJ6_1I2021; GENE NAME, NR1I2; ACCESSION NUMBER, AF364606; LENGTH, 25 bases; 5'-GGTGACACCTCC G/A AGAGGCAGCCAG-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 1403V, respectively, in PAR1).