The molecular basis of Rett syndrome

Abstract

Autism is genetically complex, but several conditions within the autistic spectrum are monogenic and therefore potentially more straight forward to understand. An example is Rett syndrome, a profound disorder that is caused by mutations in the MECP2 gene. MeCP2 protein is thought to interpret the "epigenetic" DNA methylation mark to affect gene expression, but exactly why Joss of this function should affect the brain is the subject of intensive investigation. Current efforts to address this issue will be discussed.

References

Guy J., Cheval H., Selfridge J. and Bird A., (2011), "The Role of MeCP2 in the Brain", Annu Rev Cell Dev Biol 27, 631-652.

Skene P.J., lllingworth R.S., Webb S., Kerr A.R., James K.D., Turner D.J., And rews R. and Bird A.P., (2010), "Neuronal MeCP2 ls Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State", Mol Cell 37,457-468.

Guy J., Gan J., Sel fridge J., Cobb S. and Bird A., (2007), "Reversal of neurological defects in a mouse model of Rett syndrome", Science 315, 1143-1147.