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.

Zohgbi, 2003

MeCP2 represses gene expression

Cre/lox system /

But remarkably little effect on gene expression detected in microarray study of mouse KO Tudor et al MeCP2 represses gene expression

Shabazian et al. 2002

Luikenhuis, Giacometti, Beard, Jaenisch (2004) Fig 1.

Luikenhuis, Giacometti, Beard, Jaenisch (2004) Fig 2.

Luikenhuis, Giacometti, Beard, Jaenisch (2004) Fig 3.

Luikenhuis, Giacometti, Beard, Jaenisch (2004)Fig 4.

Dani et al. (2005)Fig 1.

Dani et al. (2005)Fig 2.

Dani et al. (2005) Fig 3.

Dani et al. (2005) Fig 4.

Dani et al. (2005) Fig 5.