Structural variation-associated expression changes are paralleled by chromatin architecture modifications.

Détails

Ressource 1Télécharger: BIB_71521CB25C1A.P001.pdf (1235.59 [Ko])
Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_71521CB25C1A
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Structural variation-associated expression changes are paralleled by chromatin architecture modifications.
Périodique
PLoS One
Auteur(s)
Gheldof N., Witwicki R.M., Migliavacca E., Leleu M., Didelot G., Harewood L., Rougemont J., Reymond A.
ISSN
1932-6203 (Electronic)
ISSN-L
1932-6203
Statut éditorial
Publié
Date de publication
2013
Volume
8
Numéro
11
Pages
e79973
Langue
anglais
Résumé
Copy number variants (CNVs) influence the expression of genes that map not only within the rearrangement, but also to its flanks. To assess the possible mechanism(s) underlying this "neighboring effect", we compared intrachromosomal interactions and histone modifications in cell lines of patients affected by genomic disorders and control individuals. Using chromosome conformation capture (4C-seq), we observed that a set of genes flanking the Williams-Beuren Syndrome critical region (WBSCR) were often looping together. The newly identified interacting genes include AUTS2, mutations of which are associated with autism and intellectual disabilities. Deletion of the WBSCR disrupts the expression of this group of flanking genes, as well as long-range interactions between them and the rearranged interval. We also pinpointed concomitant changes in histone modifications between samples. We conclude that large genomic rearrangements can lead to chromatin conformation changes that extend far away from the structural variant, thereby possibly modulating expression globally and modifying the phenotype.
GEO SERIES ACCESSION NUMBER: GSE33784, GSE33867.
Pubmed
Web of science
Open Access
Oui
Création de la notice
06/02/2014 15:59
Dernière modification de la notice
20/08/2019 15:29
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