Functional characterization of genetic polymorphisms identified in the promoter region of the xanthine oxidase gene

Mutsumi Kudo, Takamitsu Sasaki, Masaaki Ishikawa, Noriyasu Hirasawa, Masahiro Hiratsuka

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)

Abstract

Xanthine oxidase (XO) catalyzes the oxidation of endogenous and exogenous purines and pyrimidines. In the present study, we investigated polymorphisms in the promoter region of the XO gene. Sequence variations in the 5?-flanking region were screened using denaturing high-performance liquid chromatography (DHPLC) on DNA samples from 196 unrelated Japanese individuals. Thirteen polymorphisms were identified and 13 haplotypes were classified by haplotype analysis. The promoter activities of these polymorphisms were measured by luciferase assay in the human hepatoma cell lines HepG2 and Huh-7. Transcriptional activity was significantly lower in cell lines transfected with the reporter construct containing 5-kb upstream fragments with -1756T than in those with wild-type -1756C. Our results indicate that genetic variation in the promoter region of XO may determine interindividual differences in XO gene expression.

Original languageEnglish
Pages (from-to)599-604
Number of pages6
JournalDrug metabolism and pharmacokinetics
Volume25
Issue number6
DOIs
Publication statusPublished - 2010 Jan 1

Keywords

  • Genetic polymorphism
  • Promoter region
  • Regulation
  • Xanthine oxidase

ASJC Scopus subject areas

  • Pharmacology
  • Pharmaceutical Science
  • Pharmacology (medical)

Fingerprint Dive into the research topics of 'Functional characterization of genetic polymorphisms identified in the promoter region of the xanthine oxidase gene'. Together they form a unique fingerprint.

Cite this