Copy number variants, diseases and gene expression.

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Serval ID
serval:BIB_DA076768B7BD
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Copy number variants, diseases and gene expression.
Journal
Human Molecular Genetics
Author(s)
Henrichsen C.N., Chaignat E., Reymond A.
ISSN
1460-2083[electronic], 0964-6906[linking]
Publication state
Published
Issued date
2009
Peer-reviewed
Oui
Volume
18
Number
R1
Pages
R1-R8
Language
english
Abstract
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.
Keywords
Animals, Disease/genetics, Gene Dosage, Gene Expression Regulation, Genetic Variation, Humans
Pubmed
Web of science
Open Access
Yes
Create date
18/06/2009 14:48
Last modification date
25/09/2019 6:10
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