Mitochondrial DNA variants in Drosophila melanogaster are expressed at the level of the organismal phenotype

Aw, Wen C.; Correa, Carolina; Clancy, David J.; Ballard, J. William O.

doi:10.1016/j.mito.2011.06.012

Cited by 22 publications

(31 citation statements)

References 79 publications

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“…Furthermore, introgression of foreign mitochondria into Drosophila populations has revealed sex-biased epistatic effects for X-linked nuclear genes (Rand et al 2001, 2006; Montooth et al 2010; Aw et al 2011). …”

Section: Discussionmentioning

confidence: 99%

“…There is direct evidence of the genomic conflict generated by epistatic interactions between the mitochondrial genes and nuclear genes from studies of mitochondria involvement in sperm development (Wang 2004; Rajender et al 2010; Paoli et al 2011). Furthermore, introgression of foreign mitochondria into Drosophila populations has revealed sex-biased epistatic effects with X-linked nuclear genes (Rand et al 2001, 2006; Montooth et al 2010; Aw et al 2011). When organismal fitness depends on the epistatic interactions between the nuclear and mitochondrial genomes (Rand et al 2001, 2006; Dowling et al 2007), the cotransmission of nuclear–mitochondrial gene combinations facilitates epistatic selection (Wade and Goodnight 2006; Brandvain and Wade 2009).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Evidence of a Paucity of Genes That Interact with the Mitochondrion on the X in Mammals

Drown

Preuss

Wade

2012

Genome Biology and Evolution

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Evidence of a Paucity of Genes That Interact with the Mitochondrion on the X in Mammals

Drown

Preuss

Wade

2012

Genome Biology and Evolution

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“…Support for this alternate hypothesis comes from a study by Aw et al . (). Aw and colleagues examined whether these mtDNA changes in the same fly lines influence four physiological traits.…”

Section: Influence Of Mtdna‐encoded Mutationsmentioning

confidence: 97%

Mitochondrial DNA: more than an evolutionary bystander

2013

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Summary1. The vast majority of studies employing mtDNA in evolutionary biology and ecology have used it as a means to infer demographic and historical patterns without pondering the underlying functional implications. In contrast, the biochemical and medical communities often aim to understand the influence of specific mtDNA mutations on mitochondrial functions, but rarely consider the evolutionary and ecological implications. 2. Ongoing research has shown that mtDNA mutations can profoundly affect mitochondrial function in humans and other animals. If the mutation (or set of mutations) is pathogenic, mitochondrial malfunction may be detected from early age. In nature, however, most mutations are not highly deleterious and may exist at intermediate frequency in populations. 3. In this review, we suggest that knowledge of the underlying biochemistry and functions of mitochondria can facilitate a more complete determination of the evolutionary dynamics of mtDNA and its influence on the life-history traits of organisms. With this approach, it is possible to use biochemistry to link the genotype with the phenotype. 4. After reviewing the literature, we conclude that there can be physiological and evolutionary trade-offs in the way that mitochondrial mutations can affect age classes and/or fitness components and that these effects may depend on the environment. Through these trade-offs, it may be possible for specific mtDNA mutations to have unequal fitness in different nuclear genetic backgrounds and also in different environments.

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“…The haplotype with the greatest variation in phenotype carried a single coding change in the ND2 gene (Aw et al. ). Other work by the same laboratory demonstrated differences in complexes I, III and IV activity among haplotypes (Katewa and Ballard ) and that differences in the activity of complexes I–IV are caused exclusively by changes in the mitochondrial and not the nuclear genome (Pichaud et al.…”

Section: Reviewmentioning

confidence: 99%

Review and meta-analysis of natural selection in mitochondrial complex I in metazoans

Garvin

Bielawski

Sazanov

et al. 2014

J Zoolog Syst Evol Res

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Variation in mitochondrial DNA is often assumed to be neutral and is used to construct the genealogical relationships among populations and species. However, if extant variation is the result of episodes of positive selection, these genealogies may be incorrect, although this information itself may provide biologically and evolutionary meaningful information. In fact, positive Darwinian selection has been detected in the mitochondrial‐encoded subunits that comprise complex I from diverse taxa with seemingly dissimilar bioenergetic life histories, but the functional implications of the selected sites are unknown. Complex I produces roughly 40% of the proton flux that is used to synthesize ATP from ADP, and a functional model based on the high‐resolution structure of complex I described a unique biomechanical apparatus for proton translocation. We reported positive selection at sites in this apparatus during the evolution of Pacific salmon, and it appeared this was also the case in published reports from other taxa, but a comparison among studies was difficult because different statistical tests were used to detect selection and oftentimes, specific sites were not reported. Here we review the literature of positive selection in mitochondrial genomes, the statistical tests used to detect selection, and the structural and functional models that are currently available to study the physiological implications of selection. We then search for signatures of positive selection among the coding mitochondrial genomes of 237 species with a common set of tests and verify that the ND5 subunit of complex I is a repeated target of positive Darwinian selection in diverse taxa. We propose a novel hypothesis to explain the results based on their bioenergetic life histories and provide a guide for laboratory and field studies to test this hypothesis.

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Mitochondrial DNA variants in Drosophila melanogaster are expressed at the level of the organismal phenotype

Cited by 22 publications

References 79 publications

Evidence of a Paucity of Genes That Interact with the Mitochondrion on the X in Mammals

Evidence of a Paucity of Genes That Interact with the Mitochondrion on the X in Mammals

Mitochondrial DNA: more than an evolutionary bystander

Review and meta-analysis of natural selection in mitochondrial complex I in metazoans

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