title: 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.
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.
authors.affiliation: Project Team for Pharmacogenetics, National Institute of Health Sciences, Setagaya-ku, Tokyo, Japan.
authors.forename: Masaya
authors.initials: M
authors.lastname: Itoda
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Saito
authors.forename: Akiko
authors.initials: A
authors.lastname: Soyama
authors.forename: Mayumi
authors.initials: M
authors.lastname: Saeki
authors.forename: Norie
authors.initials: N
authors.lastname: Murayama
authors.forename: Seiichi
authors.initials: S
authors.lastname: Ishida
authors.forename: Kimie
authors.initials: K
authors.lastname: Sai
authors.forename: Michiyo
authors.initials: M
authors.lastname: Nagano
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Suzuki
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Sugiyama
authors.forename: Shogo
authors.initials: S
authors.lastname: Ozawa
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Sawada Ji
mesh_terms: D020121:5' Untranslated Regions; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D002460:Cell Line; D005091:Exons; D015698:Genomic Library; D006801:Humans; D007564:Japan / Q000208:ethnology; D026901:Membrane Transport Proteins; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D020121:5' Untranslated Regions; D026901:Membrane Transport Proteins; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C000715087:ABCC2 protein, human; C421109:multidrug resistance-associated protein 1