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somatic mosaicism
Wednesday 29 October 2003
Somatic mosaicism is the presence of genetically distinct populations of somatic cells in a given organism. This phenomenon is frequently masked, but it can also result in major phenotypic changes and reveal the expression of otherwise lethal genetic mutations. Mosaicism can be caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities and the spontaneous reversion of inherited mutations.
References
Zhaxybayeva O, Lapierre P, Gogarten JP. Genome mosaicism and organismal lineages. Trends Genet. 2004 May;20(5):254-60. PMID: 15109780
Youssoufian H, Pyeritz RE. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet. 2002 Oct;3(10):748-58. PMID: 12360233
Gottlieb B, Beitel LK, Trifiro MA. Somatic mosaicism and variable expressivity. Trends Genet. 2001 Feb;17(2):79-82. PMID: 11173116
