2012
DOI: 10.1534/genetics.112.143719
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A Cytoplasmic Suppressor of a Nuclear Mutation Affecting Mitochondrial Functions inDrosophila

Abstract: Phenotypes relevant to oxidative phosphorylation (OXPHOS) in eukaryotes are jointly determined by nuclear and mitochondrial DNA (mtDNA). Thus, in humans, the variable clinical presentations of mitochondrial disease patients bearing the same primary mutation, whether in nuclear or mitochondrial DNA, have been attributed to putative genetic determinants carried in the “other” genome, though their identity and the molecular mechanism(s) by which they might act remain elusive. Here we demonstrate cytoplasmic suppr… Show more

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Cited by 27 publications
(54 citation statements)
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“…adenine translocator-1 deficiency and the clinical expression of Leber's hereditary optic neuropathy (Hudson et al 2007;Strauss et al 2013). Finally, in Drosophila, mitochondrial disease-like phenotypes can be suppressed by a maternally inherited factor, likely mitochondria (Chen et al 2012).…”
Section: Discussionmentioning
confidence: 99%
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“…adenine translocator-1 deficiency and the clinical expression of Leber's hereditary optic neuropathy (Hudson et al 2007;Strauss et al 2013). Finally, in Drosophila, mitochondrial disease-like phenotypes can be suppressed by a maternally inherited factor, likely mitochondria (Chen et al 2012).…”
Section: Discussionmentioning
confidence: 99%
“…In various diseases modeled by cultured cell lines established by transmitochondrial cytoplasmic hybrid production, mtDNA haplogroups have been associated with changes in mtDNA copy number (Wallace 2015). And finally, in Drosophila, cytoplasmic suppression of a mutant phenotype caused by mutation in a nuclear encoded mitochondrial protein was correlated with increased mtDNA copy number (Chen et al 2012). To determine whether the mitochondrial backgrounds that modify ND23 mutant phenotypes are correlated with mtDNA copy number differences, we measured mtDNA copy number in (♀)ND23 G14097 /ND23 60114 and (♀)ND23 60114 /ND23 G14097 flies.…”
Section: Phenotypic Modification Of Nd23 Mutants Correlates With a Mtmentioning
confidence: 99%
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“…The D. melanogaster version is AT-rich (> 90%) and large (~4.6 kb), and is mainly (> 90%) composed of five tandem type I repeats and four tandem type II 22 (Supplementary Figure 2a). Within D. melanogaster, this region exhibits frequent nucleotide and length polymorphisms [23][24][25] (e.g. Supplementary Figure 2a & b), and the divergence is more extensive in other Drosophila species 26,27 (e.g.…”
mentioning
confidence: 99%
“…Bang-sensitivity is reported as a feature of mutants in two other genes for core functions of mitochondria, namely sesB (adenine nucleotide translocase) [46] and kdn (citrate synthase) [47]. These mutants, as well as tko 25t , show ATP depletion [47][48][49]. Global tko knockdown was here shown to phenocopy both the developmental delay ( Figure 3) and bangsensitivity ( Figure 4) of the original tko 25t mutant, supporting the view that tko 25t is a simple hypomorph.…”
Section: Tissue-specificity Of the Bang-sensitive Phenotypementioning
confidence: 99%