Annual Review of Genetics ( IF 11.1 ) Pub Date : 2020-11-23 , DOI: 10.1146/annurev-genet-041720-093403 Jeremy Thorpe 1, 2 , Ikeoluwa A Osei-Owusu 1, 3 , Bracha Erlanger Avigdor 1 , Rossella Tupler 4, 5 , Jonathan Pevsner 1, 2, 3, 6
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.
中文翻译:
人类健康和疾病中的马赛克。
镶嵌现象是指在一个个体中出现两个或多个基因组,源自单个受精卵。种系嵌合是一种仅限于性腺的突变,可以传递给后代。体细胞嵌合是一种发生在体细胞中的合子后突变,它可能发生在任何发育阶段或成体组织中。镶嵌变异可以按六种方式分类:(a)种系或体细胞起源,(b)DNA突变类别(从单碱基对到多染色体),(c)发育背景,(d)身体位置)、( e ) 功能后果(包括有害的、中性的或有利的),以及 ( f) 镶嵌现象的其他来源,包括线粒体异质性、外源 DNA 来源(例如载体)和表观遗传变化(例如印记和 X 染色体失活)。包括单细胞和其他下一代测序在内的技术进步促进了在各种生物环境中检测嵌合体的灵敏度和特异性的提高。