Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.
Scott A LujanMatthew J LongleyMargaret H HumbleChristopher A LavenderAdam BurkholderEmma L BlakelyCharlotte L AlstonGrainne S GormanDoug M TurnbullRobert McFarlandRobert W TaylorThomas A KunkelWilliam C CopelandPublished in: Genome biology (2020)
These patterns implicate replication by DNA polymerase γ as the deletion driver and suggest little purifying selection against mtDNA deletions by mitophagy in postmitotic muscle fibers. Observed deletion patterns are best modeled as mtDNA deletions initiated by replication fork stalling during strand displacement mtDNA synthesis.