A mitochondrial DNA hypomorph of cytochrome oxidase specifically impairs male fertility in Drosophila melanogaster

Elife. 2016 Aug 2;5:e16923. doi: 10.7554/eLife.16923.

Abstract

Due to their strict maternal inheritance in most animals and plants, mitochondrial genomes are predicted to accumulate mutations that are beneficial or neutral in females but harmful in males. Although a few male-harming mtDNA mutations have been identified, consistent with this 'Mother's Curse', their effect on females has been largely unexplored. Here, we identify COII(G177S), a mtDNA hypomorph of cytochrome oxidase II, which specifically impairs male fertility due to defects in sperm development and function without impairing other male or female functions. COII(G177S) represents one of the clearest examples of a 'male-harming' mtDNA mutation in animals and suggest that the hypomorphic mtDNA mutations like COII(G177S) might specifically impair male gametogenesis. Intriguingly, some D. melanogaster nuclear genetic backgrounds can fully rescue COII(G177S) -associated sterility, consistent with previously proposed models that nuclear genomes can regulate the phenotypic manifestation of mtDNA mutations.

Keywords: D. melanogaster; cell biology; evolutionary biology; experimental evolution; genetic suppressors; genomics; lifespan; male fertility; mitochondrial DNA; sperm development.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics*
  • Drosophila melanogaster / genetics
  • Drosophila melanogaster / physiology*
  • Electron Transport Complex IV / genetics*
  • Infertility / genetics*
  • Male
  • Mitochondrial Proteins / genetics*
  • Mutation, Missense*

Substances

  • DNA, Mitochondrial
  • Mitochondrial Proteins
  • cytochrome C oxidase subunit II
  • Electron Transport Complex IV