bims-humivi Biomed News
on Human mito-nuclear genetic interplay
Issue of 2025–12–28
two papers selected by
Mariangela Santorsola, Università di Pavia



  1. Biochemistry (Mosc). 2025 Dec;90(12): 1919-1928
      Eukaryotic cells contain multiple mitochondrial DNA (mtDNA) molecules. Heteroplasmy is coexistence in the same cell of different mtDNA variants competing for cellular resources required for their replication. Here, we review documented cases of emergence and spread of selfish mtDNA (i.e., mtDNA that has a selective advantage in a cell but decreases cell fitness) in eukaryotic species, from humans to baker's yeast. The review discusses hypothetical mechanisms enabling preferential proliferation of certain mtDNA variants in heteroplasmy. We propose that selfish mtDNAs have significantly influenced the evolution of eukaryotes and may be responsible for the emergence of uniparental inheritance and constraints on the mtDNA copy number in germline cells.
    Keywords:  heteroplasmy; intracellular selection; mitochondrial DNA; mitophagy; mtDNA quality control; selfish gene
    DOI:  https://doi.org/10.1134/S0006297925603296
  2. bioRxiv. 2025 Dec 18. pii: 2025.12.17.694680. [Epub ahead of print]
      Maternal inheritance allows selection to act on mtDNA-encoded effects in females but prevents direct selection on mtDNA in males. Mutations that are deleterious in males but neutral or beneficial in females can persist in populations. This predicts that mtDNA-based phenotypic variation should be more common among males than among females, a pattern referred to as Mother's Curse (MC). Most studies of MC place alternative mtDNAs on common homozygous nuclear chromosomal backgrounds, a condition not common in nature. Moreover, it is not known whether MC effects accumulate as mtDNAs acquire nucleotide substitutions between populations or species. We tested the MC hypothesis using mtDNAs from Drosophila melanogaster ( OreR , Zimbabwe or w 1118 ), D. simulans ( siI and siII ) and D. yakuba each placed on several D. melanogaster nuclear backgrounds heterozygous for different chromosomal deficiencies paired with a common w 1118 chromosome set. Females and males were tested for starvation resistance, climbing speed, and flight performance. In the majority of chromosomal backgrounds the variance among mtDNA genotypes was greater in females than in males, opposite from the central prediction of Mother's Curse. This suggests that additive and dominance variation across the nuclear genome may provide 'nuclear blessings' that can counter the curse of maternally inherited mtDNA.
    Teaser text: Mother's Curse (MC) posits that selection on mtDNA should be stronger in females than in males due to maternal inheritance of mtDNA. This predicts that phenotypic variation among mtDNA genotypes should be lower for females and higher for males. There is conflicting experimental evidence for MC. Most studies of MC have used a common, homozygous nuclear background and have not explored the influence of divergent mtDNAs as strong predictors of MC effects. We address both issues by assaying performance traits among mtDNAs of varying levels of divergence on heterozygous backgrounds. The data fail to support the MC hypothesis and even reveal the opposite effect that females have greater phenotypic variation across mtDNAs. MC may operate in some contexts, but it is not a consistent force in evolutionary genetics.
    DOI:  https://doi.org/10.64898/2025.12.17.694680