Copy Number Variation in Human Health, Disease, and Evolution

被引：871

作者：

Zhang, Feng ^{[1
]}

Gu, Wenli ^{[1
,5
]}

Hurles, Matthew E. ^{[2
]}

Lupski, James R. ^{[1
,3
,4
]}

机构：

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

[2] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

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

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

[5] Univ Munich, Sch Med, Inst Human Genet, D-80336 Munich, Germany

来源：

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS | 2009年 / 10卷

基金：

英国惠康基金;

关键词：

FoSTeS; genomic disorder; genomotype/phenotype correlations; MMBIR; NAHR; NHEJ; SYSTEMIC-LUPUS-ERYTHEMATOSUS; AMYLOID PRECURSOR-PROTEIN; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILIAL PARKINSONS-DISEASE; RECOMBINATION HOT-SPOTS; HUMAN GENETIC-VARIATION; HUMAN COLOR-VISION; ALPHA-GLOBIN GENE; STRUCTURAL VARIATION; SEGMENTAL DUPLICATIONS;

D O I：

10.1146/annurev.genom.9.081307.164217

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified wide various genome analysis platforms, including array comparative genomic hybridization (aCGH), single nucleotide polymorphism (SNP) genotyping platforms, and next-generation sequencing. CNV formation occurs by both recombination-based and replication-based mechanisms and de novo locus-specific mutation rates appear much higher for CNVs than for SNPs. By various molecular mechanisms, including gene dosage, gene disruption, gene fusion, position effects, etc., CNVs can cause Mendelian or sporadic traits, or be associated with complex diseases. However, CNV can also represent benign polymorphic variants. CNVs, especially gene duplication and exon shuffling, can be a predominant mechanism driving gene and genome evolution.

引用

页码：451 / 481

页数：31

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