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Mosaicism in Human Health and Disease

Jeremy Thorpe, IkeOluwa A. Osei-Owusu, Bracha Erlanger Avigdor, Rossella Tupler, Jonathan Pevsner
Published: 23 November 2020
Annual Review of Genetics , Volume 54, pp 487-510; doi:10.1146/annurev-genet-041720-093403

Abstract: Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be transmitted to offspring. Somatic mosaicism is a postzygotic mutation that occurs in the soma, and it may occur at any developmental stage or in adult tissues. Mosaic variation may be classified in six ways: ( a) germline or somatic origin, ( b) class of DNA mutation (ranging in scale from single base pairs to multiple chromosomes), ( c) developmental context, ( d) body location(s), ( e) functional consequence (including deleterious, neutral, or advantageous), and ( f) additional sources of mosaicism, including mitochondrial heteroplasmy, exogenous DNA sources such as vectors, and epigenetic changes such as imprinting and X-chromosome inactivation. Technological advances, including single-cell and other next-generation sequencing, have facilitated improved sensitivity and specificity to detect mosaicism in a variety of biological contexts.
Keywords: next generation sequencing / somatic / germline / epigenetic / Chromosomes / functional / adult / DNA / developmental / mosaicism

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