CAGE-defined promoter regions of the genes implicated in Rett Syndrome

View/ Open
Author
Vitezic, Morana
Bertin, Nicolas
Andersson, Robin
Lipovich, Leonard
Kawaji, Hideya
Lassmann, Timo
Sandelin, Albin
Heutink, Peter
Goldowitz, Dan
Ha, Thomas
Zhang, Peter
Forrest, Alistair RR
Carninci, Piero
Saxena, Alka
Note: Order does not necessarily reflect citation order of authors.
Published Version
https://doi.org/10.1186/1471-2164-15-1177Metadata
Show full item recordCitation
Vitezic, M., N. Bertin, R. Andersson, L. Lipovich, H. Kawaji, T. Lassmann, A. Sandelin, et al. 2014. “CAGE-defined promoter regions of the genes implicated in Rett Syndrome.” BMC Genomics 15 (1): 1177. doi:10.1186/1471-2164-15-1177. http://dx.doi.org/10.1186/1471-2164-15-1177.Abstract
Background: Mutations in three functionally diverse genes cause Rett Syndrome. Although the functions of Forkhead box G1 (FOXG1), Methyl CpG binding protein 2 (MECP2) and Cyclin-dependent kinase-like 5 (CDKL5) have been studied individually, not much is known about their relation to each other with respect to expression levels and regulatory regions. Here we analyzed data from hundreds of mouse and human samples included in the FANTOM5 project, to identify transcript initiation sites, expression levels, expression correlations and regulatory regions of the three genes. Results: Our investigations reveal the predominantly used transcription start sites (TSSs) for each gene including novel transcription start sites for FOXG1. We show that FOXG1 expression is poorly correlated with the expression of MECP2 and CDKL5. We identify promoter shapes for each TSS, the predicted location of enhancers for each gene and the common transcription factors likely to regulate the three genes. Our data imply Polycomb Repressive Complex 2 (PRC2) mediated silencing of Foxg1 in cerebellum. Conclusions: Our analyses provide a comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome. Electronic supplementary material The online version of this article (doi:10.1186/1471-2164-15-1177) contains supplementary material, which is available to authorized users.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4522966/pdf/Terms of Use
This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAACitable link to this page
http://nrs.harvard.edu/urn-3:HUL.InstRepos:21462402
Collections
- HMS Scholarly Articles [17875]
Contact administrator regarding this item (to report mistakes or request changes)