Mosaicism in Human Health and Disease

Overview

Journal Annu Rev Genet

Publisher Annual Reviews

Specialty Genetics

Date 2020 Sep 11

PMID 32916079

Citations 43

Authors

Jeremy Thorpe

Ikeoluwa A Osei-Owusu

Bracha Erlanger Avigdor

Rossella Tupler

Jonathan Pevsner

Affiliations

Soon will be listed here.

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: () germline or somatic origin, () class of DNA mutation (ranging in scale from single base pairs to multiple chromosomes), () developmental context, () body location(s), () functional consequence (including deleterious, neutral, or advantageous), and () 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.

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