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| Citation | Matsushima, Y., Kaguni, L.S. (2007). Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells. J. Biol. Chem. 282(13): 9436--9444. (Export to RIS) | ||
| FlyBase ID | FBrf0200362 | ||
| Publication Type | Research paper | ||
| PubMed ID | 17272269 | ||
| PubMed Abstract | We report the cloning and molecular analysis of Drosophila mitochondrial DNA helicase (d-mtDNA helicase) homologous to human TWINKLE, which encodes one of the genes responsible for autosomal dominant progressive external ophthalmoplegia. An RNA interference construct was designed that reduces expression of d-mtDNA helicase to an undetectable level in Schneider cells. RNA interference knockdown of d-mtDNA helicase decreases the copy number of mitochondrial DNA (mtDNA) approximately 5-fold. In a corollary manner, overexpression of d-mtDNA helicase increases mtDNA levels 1.4-fold. Overexpression of helicase active site mutants K388A and D483A results in a severe depletion of mtDNA and a dominant negative lethal phenotype. Overexpression of mutants analogous to human autosomal dominant progressive external ophthalmoplegia mutations shows differential effects. Overexpression of I334T and A442P mutants yields a dominant negative effect as for the active site mutants. In contrast, overexpression of A326T, R341Q, and W441C mutants results in increased mtDNA copy number, as observed with wild-type overexpression. Our dominant negative analysis of d-mtDNA helicase in cultured cells provides a tractable model for understanding human autosomal dominant progressive external ophthalmoplegia mutations. | ||
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| Secondary IDs | FBrf0192454 | ||
| Language of Publication | English | ||
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| Publication Type | Journal | ||
| Abbreviation | J. Biol. Chem. | ||
| Title | Journal of Biological Chemistry | ||
| Publication Year | 1905- | ||
| ISBN/ISSN | 0021-9258 | ||
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Data from Reference
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| Alleles (9)
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| Genes (11)
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