Mechanisms and consequences of somatic mosaicism in humans.

doi:10.1038/nrg906

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Article

Mechanisms and consequences of somatic mosaicism in humans.

Nature reviews. Genetics - 1 Oct 2002

Youssoufian Hagop, Pyeritz Reed E

Abstract excerpt

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,...

Topics

Cell Lineage
Chimera
Crossing Over, Genetic
DNA, Mitochondrial
Genetic Diseases, Inborn
Germ Cells
Humans
Mosaicism
Mutation
Phenotype

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Open in PubMed

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PMID: 12360233
DOI: 10.1038/nrg906

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