Mosaicism—Switch or Spectrum?

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Science  01 Oct 2010:
Vol. 330, Issue 6000, pp. 46-47
DOI: 10.1126/science.1195991

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Somatic revertant mosaicism—the coexistence of cells carrying inherited genetic mutations with cells that have undergone spontaneous changes that correct the mutant phenotype—was previously thought to be extremely rare in terms of the frequency of patients in which it occurs and the frequency with which cells bearing revertant mutations arise in a given patient. A number of recent findings, including the report by Choate et al. on page 94 of this issue (1), challenge this perspective.