Nathalie Bérubé, PhDProteins with the ability to remodel chromatin and consequently alter gene expression patterns play a central role in neuronal function and are often disrupted in mental retardation disorders. Our laboratory is studying the ATRX (Alpha-Thalassemia-mental Retardation , X-linked) gene that is mutated in syndromal forms of X-linked mental retardation. ATRX is a chromatin remodeling protein of the Snf2 family of proteins and interacts with Daxx and promyelocytic leukemia nuclear bodies (PML-NBs) to regulate gene transcription.

The loss of ATRX in the neocortex, hippocampus and retina during mouse development results in the loss of specific cell types, including the dentate granule cells of the hippocampus.

To understand the function of ATRX in neurons in vivo, we are using Cre/loxP technology to prevent ATRX expression is specific groups of neurons. An integrated approach that combines mouse genetics, molecular biology, and genomic techniques will allow us to decipher the molecular events resulting from aberrant ATRX expression in neurons.

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