Global InformationHomoplasmy information
Homoplasmy is a term used in genetics to describe a eukaryotic cell whose copies of mitochondrial DNA are all identical.[1] In normal and healthy tissues, all cells are homoplasmic.[2] Homoplasmic mitochondrial DNA copies may be normal or mutated;[1] however, most mutations are heteroplasmic[2][3] (only occurring in some copies of mitochondrial DNA). It has been discovered, though, that homoplasmic mitochondrial DNA mutations may be found in human tumors.[4]
The term may also refer to uniformity of plant plastid DNA, whether occurring naturally or otherwise.[citation needed]
- ^ a b Heteroplasmy vs. Homoplasmy. University of Miami Faculty of Medicine. Accessed 21 October 2012.
- ^ a b Dimauro, Salvatore; Davidzon, Guido (2005). "Mitochondrial DNA and disease". Annals of Medicine. 37 (3): 222–232. doi:10.1080/07853890510007368. PMID 16019721. S2CID 11114978.
- ^ Ballana, E.; Govea, N.; de Cid, R.; Garcia, C.; Arribas, C.; Rosell, J.; Estivill, X. (2008). "Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations". Hum. Mutat. 29 (2): 248–257. doi:10.1002/humu.20639. PMID 17999439. S2CID 25493822.
- ^ Coller, HA; Khrapko, K; Bodyak, ND; Nekhaeva, E; Herrero-Jimenez, P; Thilly, WG (2001). "High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection". Nature Genetics. 28 (2): 147–50. doi:10.1038/88859. PMID 11381261. S2CID 11929018.