Mutation D104G in ANT1 gene: Complementation study in Saccharomyces cerevisiae as a model system

Tiziana Lodi, Claudio Bove, Flavia Fontanesi, Anna Maria Viola, Iliana Ferrero

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Mutations in the human ANT1 gene, coding for the ADP/ATP carrier, are responsible for the autosomal dominant and recessive forms of progressive external ophthalmoplegia, mitochondrial disorders characterized by the presence of multiple deletions of mitochondrial DNA in affected tissues. By introducing these mutations at equivalent position in AAC2, the yeast orthologue of ANT1, we created a suitable model for validation of the pathogenicity of the human mutations. Here, we describe the use of this approach in the case of mutations mapping in domains not conserved between human and yeast, taking advantage of a yAAC2/hANT1 chimeric construction as a template to introduce pathogenic hANT1 mutations. Application to the case of the D104G mutation indicated that the chimeric construction could be a tool for validation of pathogenic ANT1 mutations in yeast.

Original languageEnglish (US)
Pages (from-to)810-815
Number of pages6
JournalBiochemical and biophysical research communications
Volume341
Issue number3
DOIs
StatePublished - Mar 17 2006

Keywords

  • AAC2
  • ADP/ATP carrier
  • ANT1
  • Mitochondrial diseases
  • PEO
  • Yeast

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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