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Human Molecular Genetics 2009 18(R1):R1-R8; doi:10.1093/hmg/ddp011
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© The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Copy number variants, diseases and gene expression

Charlotte N. Henrichsen, Evelyne Chaignat and Alexandre Reymond*

The Center for Integrative Genomics, Genopode Building, University of Lausanne, CH-1015 Lausanne, Switzerland

* To whom correspondence should be addressed. Tel: +41 21 692 3960, Fax: +41 21 692 3965, Email: alexandre.reymond{at}unil.ch

Received December 22, 2008; Revised December 22, 2008; Accepted January 5, 2009

Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has been put into the identification and mapping of regions that vary in copy number among seemingly normal individuals in humans and a number of model organisms, using bioinformatics or hybridization-based methods. These have allowed uncovering associations between copy number changes and complex diseases in whole-genome association studies, as well as identify new genomic disorders. At the genome-wide scale, however, the functional impact of CNV remains poorly studied. Here we review the current catalogs of CNVs, their association with diseases and how they link genotype and phenotype. We describe initial evidence which revealed that genes in CNV regions are expressed at lower and more variable levels than genes mapping elsewhere, and also that CNV not only affects the expression of genes varying in copy number, but also have a global influence on the transcriptome. Further studies are warranted for complete cataloguing and fine mapping of CNVs, as well as to elucidate the different mechanisms by which they influence gene expression.


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