Event Detail (Archived)
The Genetics and Epigenetics of Rett Syndrome
The Joshua Lederberg Distinguished Lectureship in Molecular Genetics
- Friday Lecture Series
Adrian Bird, Ph.D., Buchanan Professor of Genetics, The University of Edinburgh
DNA methylation affects protein-DNA interactions leading to downstream biological consequences. MeCP2, a “reader” of this modification, binds specifically to methylated sites and recruits a histone deacetylase complex which can inhibit local gene expression. The finding that mutations in the MECP2 gene cause the autism spectrum disorder Rett Syndrome led Dr. Bird and his lab to study the molecular basis of this condition. A mouse model of Rett syndrome closely mimics the human condition and establishes the brain as the seat of the disorder. Rett syndrome neurons in mice and humans display reduced complexity and functionality, but remain viable. Against expectation, neurological phenotypes in mice are strikingly reversed if the missing protein is restored, raising the possibility that Rett syndrome is curable. Current evidence indicates that the core function of MeCP2 in the brain is to restrain transcription of thousands of genes in proportion to the local density of methylated sites. The findings reveal that DNA methylation acts as an essential optimizer of neuronal gene expression.
Adrian Bird obtained his Ph.D. at Edinburgh University and postdoctoral experience at the Universities of Yale and Zurich. He then joined the MRC Mammalian Genome Unit in Edinburgh and in 1987, moved to the Institute for Molecular Pathology in Vienna, returning to Edinburgh in 1990 where he became Director of the Centre for Cell biology. Awards include the Gairdner International Award and the Shaw Prize. His research focuses on the basic biology of DNA methylation and other epigenetic processes, including the molecular mechanisms underlying the neurological disorder Rett Syndrome.
- Open to
- Jeffrey Friedman
- Refreshments, 3:15 p.m. - 3:45 p.m., Abby Lounge
- Justin Sloboda
- (212) 327-7785