Promoters and enhancers in Rett syndrome

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Morana Vitezic together with FANTOM collegues all over the world has published a detailed investigation on promoters and enhancers important for Rett syndrome, a rare neurological disorder.

Mutations in three functionally diverse genes cause Rett Syndrome. 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. 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

CAGE-defined promoter regions of the genes implicated in Rett Syndrome Morana Vitezic, Nicolas Bertin, Robin Andersson, Leonard Lipovich, Hideya Kawaji, Timo Lassmann, Albin Sandelin, Peter Heutink, Dan Goldowitz, Thomas Ha, Peter Zhang, Annarita Patrizi, Michela Fagiolini, Alistair RR Forrest, Piero Carninci and Alka Saxena

BMC Genomics 2014, 15:1177 doi:10.1186/1471-2164-15-1177


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