Detalle de: Chromatin remodeling and gene expression

Chromatin is the network where the metabolism of DNA occurs, including transcription, replication, repair and recombination. All the enzymatic machineries that have to reach the DNA for these processes require the previous concourse of chromatin remodelling complexes that open the chromatin. Some of these remodelers alter histone-DNA interactions using the energy of ATP hydrolysis. Alterations of these machineries often result in congenital malformations and cancer. Currently we are studying the role in transcriptional regulation of one of these proteins called CHD8. CHD8 binds the promoter of transcriptionally active genes and controls its expression (Rodríguez-Paredes et al., 2009; Subtil-Rodríguez et al., 2014). We have shown that CHD8 is also required to activate progesterone dependent enhancers (Ceballos-Chávez et al., 2015). Recently it was discovered that heterocygotic mutations in CHD8 gene are one of the causes of autism. Currently we are investigating the molecular bases of the Autism spectrum Disorder (ASD) caused by deficiencies in this gene.