Mutation D104G in ANT1 gene: complementation study in Saccharomyces cerevisiae as a model system
| Autor: | Tiziana Lodi, Iliana Ferrero, Anna Maria Viola, Claudio Giorgio Bove, Flavia Fontanesi |
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| Rok vydání: | 2006 |
| Předmět: |
Mitochondrial DNA
Mutation rate Saccharomyces cerevisiae Proteins Mitochondrial disease Saccharomyces cerevisiae Molecular Sequence Data Biophysics Biology medicine.disease_cause Biochemistry Models Biological Conserved sequence medicine Humans Amino Acid Sequence Molecular Biology Gene Alleles Conserved Sequence Cell Proliferation Genetics Mutation Aspartic Acid Ophthalmoplegia Genetic Complementation Test Adenine Nucleotide Translocator 1 Cell Biology medicine.disease biology.organism_classification Complementation Mitochondrial ADP ATP Translocases Sequence Alignment |
| Zdroj: | Biochemical and biophysical research communications. 341(3) |
| ISSN: | 0006-291X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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