How Mutations in the MECP2 Gene Cause Rett Syndrome | Rett Syndrome Research Trust

A paper was published on June 16, 2013, in Nature Neuroscience describing key steps in how mutations in the MECP2 gene cause Rett Syndrome. The paper describes two crucial domains in the protein: the well known methyl binding domain and the newly described NCoR/SMRT Interaction Domain (NID). Mutations in either of these domains cause Rett Syndrome. This work was done via the MECP2 Consortium in the labs of Adrian Bird at University of Edinburgh in collaboration with Michael Greenberg at Harvard Medical School.

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