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Polymorphisms in the ABCC2 (cMOAT/MRP2) gene found in 72 established cell lines derived from Japanese individuals: an association between single nucleotide polymorphisms in the 5'-untranslated region and exon 28.
Authors:Masaya Itoda  Yoshiro Saito  Akiko Soyama  Mayumi Saeki  Norie Murayama  Seiichi Ishida  Kimie Sai  Michiyo Nagano  Hiroshi Suzuki  Yuichi Sugiyama  Shogo Ozawa  Jun-ichi Sawada Ji
Affiliation:Project Team for Pharmacogenetics, National Institute of Health Sciences, Setagaya-ku, Tokyo, Japan.
Abstract:We found nucleotide variability in the 5'-upstream region and exonic sequences of a gene-encoding canalicular multispecific organic anion transporter/multidrug resistance-associated protein 2 (cMOAT/MRP2) by polymerase chain reaction-based sequencing using genomic DNA from 72 established cell lines derived from 72 Japanese individuals. Four single nucleotide polymorphisms (SNPs) were found in the 5'-untranslational region and 21 in the exonic regions. Of them, 14 were nonsynonymous SNPs. One deletion of seven consecutive adenines resulting in a frameshift variant was also found. Four SNPs, c-24t, g1249a (V417I), c2366t (S789F), and c3972t (I1324I), were the same as those recently reported. A strong association was found between c-24t (5'-untranslated region) and c3972t (exon 28), with the promoter activity of the former worth being compared.
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