| Literature DB >> 12360233 |
Hagop Youssoufian1, Reed E Pyeritz.
Abstract
Somatic mosaicism -- the presence of genetically distinct populations of somatic cells in a given organism -- 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. In this review, we discuss the human disorders that result from somatic mosaicism, as well as the molecular genetic mechanisms by which they arise. Specifically, we emphasize the role of selection in the phenotypic manifestations of mosaicism.Entities:
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Year: 2002 PMID： 12360233 DOI： 10.1038/nrg906
Source DB: PubMed Journal: Nat Rev Genet ISSN： 1471-0056 Impact factor: 53.242