Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.

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Serval ID
serval:BIB_BAF4351682CD
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.
Journal
PLoS Computational Biology
Author(s)
Henrichsen C.N., Csárdi G., Zabot M.T., Fusco C., Bergmann S., Merla G., Reymond A.
ISSN
1553-7358 (Electronic)
ISSN-L
1553-734X
Publication state
Published
Issued date
2011
Peer-reviewed
Oui
Volume
7
Number
1
Pages
e1001054
Language
english
Abstract
The genetic dissection of the phenotypes associated with Williams-Beuren Syndrome (WBS) is advancing thanks to the study of individuals carrying typical or atypical structural rearrangements, as well as in vitro and animal studies. However, little is known about the global dysregulations caused by the WBS deletion. We profiled the transcriptomes of skin fibroblasts from WBS patients and compared them to matched controls. We identified 868 differentially expressed genes that were significantly enriched in extracellular matrix genes, major histocompatibility complex (MHC) genes, as well as genes in which the products localize to the postsynaptic membrane. We then used public expression datasets from human fibroblasts to establish transcription modules, sets of genes coexpressed in this cell type. We identified those sets in which the average gene expression was altered in WBS samples. Dysregulated modules are often interconnected and share multiple common genes, suggesting that intricate regulatory networks connected by a few central genes are disturbed in WBS. This modular approach increases the power to identify pathways dysregulated in WBS patients, thus providing a testable set of additional candidates for genes and their interactions that modulate the WBS phenotypes.
Pubmed
Web of science
Open Access
Yes
Create date
20/03/2011 19:51
Last modification date
20/08/2019 15:28
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