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Homoplasmy is a term used in genetics to describe a mammalian cell whose copies of mtDNA are all identical.[1] Homoplasmic mtDNA copies may be normal or mutated.[1] Most mutations are heteroplasmic[2] - only occurring in some copies of mtDNA - but it has been discovered that homoplasmic mtDNA mutations may be found in human tumours.[3]

The term may also refer to uniformity of plant plastid DNA, whether occurring naturally or otherwise.[citation needed]

See also[edit]


  1. ^ a b Heteroplasmy vs. Homoplasmy. University of Miami Faculty of Medicine. Accessed October 21, 2012.
  2. ^ Ballana, E., Govea, N., de Cid, R., Garcia, C., Arribas, C., Rosell, J. and Estivill, X. (2008), Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations. Hum. Mutat., 29: 248–257. doi: 10.1002/humu.20639. Accessed October 21, 2012.
  3. ^ Coller HA, Khrapko K, Bodyak ND, Nekhaeva E, Herrero-Jimenez P, Thilly WG. "High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection." Nature Genetics 28, 2001 Jun; pp. 147-50. DOI 10.1038/88859. Accessed October 21, 2012.