Mosaicism in Human Health and Disease

• Published in: Annual review of genetics Vol. 54; no. 1; pp. 487 - 510
• Main Authors: Thorpe, Jeremy, Osei-Owusu, Ikeoluwa A, Avigdor, Bracha Erlanger, Tupler, Rossella, Pevsner, Jonathan
• Format: Journal Article
• Language: English
• Published: United States Annual Reviews 23.11.2020; Annual Reviews, Inc
• Subjects: Chromosomes; Deoxyribonucleic acid; Developmental stages; DNA; Epigenetics; Genomes; Genomic imprinting; germline mutation; Gonads; Heteroplasmy; Inactivation; Mitochondrial DNA; mosaic aneuploidy; Mosaicism; Mutation; Next-generation sequencing; Offspring; somatic mutation; X-chromosome inactivation; somatic mutation; germline mutation; mosaic aneuploidy; mosaicism

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 de...