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 y AAC2/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.
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