Increased mutation in mice genetically predisposed to oxidative damage in the brain

James R. Stringer, Jon S. Larson, Jared M. Fischer, Saundra L. Stringer

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Harlequin (Hq) mice develop ataxia due to an X-linked recessive mutation in the gene encoding apoptosis-inducing factor (Aif). Brain cells in Hq mice contain the modified base 8-hydroxydeoxyguanosine (8-OHdG), suggesting that the defect in Aif causes increased DNA oxidation in these cells. Because oxidative damage is mutagenic, Hq mice might suffer increased mutation in the brain. To examine this possibility, mutation in the brain was assessed using the Tg(βA-G11PLAP) mouse model, which allows mutant cells to be visualized in tissue sections in situ. Hq mice exhibited more and larger patches of PLAP positive tissue in the brain. PLAP+ cells were observed in all areas of the brain. No increase in the number of PLAP+ cells was seen in three other tissues, suggesting that the effect of Aif deficiency on mutation was specific to brain.

Original languageEnglish (US)
Pages (from-to)127-134
Number of pages8
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Issue number1-2
StatePublished - Nov 22 2004
Externally publishedYes


  • Apoptosis-inducing factor
  • Brain
  • In situ
  • Mononucleotide repeat
  • Mutation
  • Oxidative damage

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis


Dive into the research topics of 'Increased mutation in mice genetically predisposed to oxidative damage in the brain'. Together they form a unique fingerprint.

Cite this