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somatic mosaicism

genome mosaicism

 
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#


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