Copy number variants, diseases and gene expression.

Détails

ID Serval
serval:BIB_DA076768B7BD
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Copy number variants, diseases and gene expression.
Périodique
Human Molecular Genetics
Auteur(s)
Henrichsen C.N., Chaignat E., Reymond A.
ISSN
1460-2083[electronic], 0964-6906[linking]
Statut éditorial
Publié
Date de publication
2009
Peer-reviewed
Oui
Volume
18
Numéro
R1
Pages
R1-R8
Langue
anglais
Résumé
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.
Mots-clé
Animals, Disease/genetics, Gene Dosage, Gene Expression Regulation, Genetic Variation, Humans
Pubmed
Web of science
Open Access
Oui
Création de la notice
18/06/2009 15:48
Dernière modification de la notice
09/05/2019 2:02
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