Rett Syndrome by HC111210074921

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									 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.
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http://www.ncbi.nlm.nih.gov/disease/chr21-Y.html
Zohgbi, 2003
MeCP2 represses gene expression
Cre/lox system
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        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
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.
                     Fig 3.
Dani et al. (2005)
                     Fig 4.
Dani et al. (2005)
                     Fig 5.
Dani et al. (2005)

								
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