Somatic mosaicism: implications for disease and transmission genetics

被引：207

作者：

Campbell, Ian M. ^{[1
]}

Shaw, Chad A. ^{[1
,2
,3
]}

Stankiewicz, Pawel ^{[1
]}

Lupski, James R. ^{[1
,4
,5
,6
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Program Struct & Computat Biol & Mol Biophys, Houston, TX 77030 USA

[3] Rice Univ, Dept Stat, Houston, TX 77005 USA

[4] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[5] Texas Childrens Hosp, Houston, TX 77030 USA

[6] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

来源：

TRENDS IN GENETICS | 2015年 / 31卷 / 07期

关键词：

mosaicism; somatic mosaicism; postzygotic mutation; transmission genetics; recurrence risk; FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY; COPY-NUMBER VARIATION; RECURRENCE RISK; MITOTIC RECOMBINATION; CHROMOSOMAL MOSAICISM; L1; RETROTRANSPOSITION; ACTIVATING MUTATIONS; DIGENIC INHERITANCE; GENOME; ORIGIN;

D O I：

10.1016/j.tig.2015.03.013

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Nearly all of the genetic material among cells within an organism is identical. However, single-nucleotide variants (SNVs), small insertions/deletions (indels), copy-number variants (CNVs), and other structural variants (SVs) continually accumulate as cells divide during development. This process results in an organism composed of countless cells, each with its own unique personal genome. Thus, every human is undoubtedly mosaic. Mosaic mutations can go unnoticed, underlie genetic disease or normal human variation, and may be transmitted to the next generation as constitutional variants. We review the influence of the developmental timing of mutations, the mechanisms by which they arise, methods for detecting mosaic variants, and the risk of passing these mutations on to the next generation.

引用

页码：382 / 392

页数：11

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