Mammalian mitochondrial DNA replication and mechanisms of deletion formation

Crit Rev Biochem Mol Biol. 2020 Dec;55(6):509-524. doi: 10.1080/10409238.2020.1818684. Epub 2020 Sep 24.


Mammalian mitochondria contain multiple copies of a circular, double-stranded DNA genome (mtDNA) that codes for subunits of the oxidative phosphorylation machinery. Mutations in mtDNA cause a number of rare, human disorders and are also associated with more common conditions, such as neurodegeneration and biological aging. In this review, we discuss our current understanding of mtDNA replication in mammalian cells and how this process is regulated. We also discuss how deletions can be formed during mtDNA replication.

Keywords: DNA helicase; DNA polymerase; DNA replication; Mitochondrion; deletion.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • DNA Helicases / genetics
  • DNA Helicases / metabolism
  • DNA Replication / genetics
  • DNA Replication / physiology
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism*
  • Humans
  • Mitochondria / metabolism*
  • Mitochondrial Proteins / genetics
  • Mitochondrial Proteins / metabolism*


  • DNA, Mitochondrial
  • Mitochondrial Proteins
  • DNA Helicases