Rett Syndrome Neurobiology of Disease
Rett Syndrome • 2nd most common genetic cause of Mental Retardation • Early development normal loss of language, cognitive and motor abilities • Single gene defect: Mecp2 • KO (Jaenisch, Bird) recapitulates disease, as does forebrain neuron selective KO.
Cre/lox system http://www.bioteach.ubc.ca/MolecularBiology/TargetingYourDNAWithTheCreloxSystem/
MeCP2 represses gene expression But remarkably little effect on gene expression detected in microarray study of mouse KO Tudor et al. 2002
Dani et al. (2005) Fig 1.
Dani et al. (2005) Fig 2.
Fig 3. Dani et al. (2005)
Fig 4. Dani et al. (2005)
Fig 5. Dani et al. (2005)