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PMID: 19715442 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Review

Copy number variation in human health, disease, and evolution.

Annual review of genomics and human genetics ·Vol. 10 ·2009-00-00 ·Pages 451-81

Zhang F, Gu W, Hurles ME, Lupski JR

Abstract

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs are being identified with 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.

MeSH Terms
Animals Comparative Genomic Hybridization DNA/chemistry,genetics DNA Replication Disease/genetics Evolution, Molecular Gene Dosage Humans Polymorphism, Single Nucleotide
Chemicals
DNA
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Zhang Feng
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Gu Wenli
Hurles Matthew E
Lupski James R
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Article Info
Journal
Annual review of genomics and human genetics
Abbr.
Annu Rev Genomics Hum Genet
ISSN
1545-293X
DOI
10.1146/annurev.genom.9.081307.164217
Published
2009-00-00
Pages
451-81
Language
English
Region
United States
NLM ID
100911346
PMCID
PMC4472309
Subset
IM
Grants
NINDS NIH HHS · R01 NS058529 · United States
Wellcome Trust · United Kingdom
External Links
PubMed source DOI: 10.1146/annurev.genom.9.081307.164217 PMC Full Text View journal details
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