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Genes 2014, 5(4), 1064-1094;

Somatic Mosaicism in the Human Genome

Program in Biochemistry, Cellular and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
Department of Neurology, Kennedy Krieger Institute, 707 N. Broadway, Baltimore, MD 21205, USA
Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
Present address: CFSAN Division of Microbiology, Food and Drug Administration, College Park, MD 20740, USA;
Author to whom correspondence should be addressed.
Received: 20 October 2014 / Revised: 26 November 2014 / Accepted: 28 November 2014 / Published: 11 December 2014
(This article belongs to the Special Issue Grand Celebration: 10th Anniversary of the Human Genome Project)
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Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells within an individual, derived from a postzygotic mutation. In contrast to inherited mutations, somatic mosaic mutations may affect only a portion of the body and are not transmitted to progeny. These mutations affect varying genomic sizes ranging from single nucleotides to entire chromosomes and have been implicated in disease, most prominently cancer. The phenotypic consequences of somatic mosaicism are dependent upon many factors including the developmental time at which the mutation occurs, the areas of the body that are affected, and the pathophysiological effect(s) of the mutation. The advent of second-generation sequencing technologies has augmented existing array-based and cytogenetic approaches for the identification of somatic mutations. We outline the strengths and weaknesses of these techniques and highlight recent insights into the role of somatic mosaicism in causing cancer, neurodegenerative, monogenic, and complex disease. View Full-Text
Keywords: mutation; somatic; germline; mosaicism; complex disease; retrotransposition; neurodegeneration; aging mutation; somatic; germline; mosaicism; complex disease; retrotransposition; neurodegeneration; aging

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Freed, D.; Stevens, E.L.; Pevsner, J. Somatic Mosaicism in the Human Genome. Genes 2014, 5, 1064-1094.

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