Key publications

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY.
Nat Genet. 1999 Oct;23(2):185-8.

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.

Guy J, Hendrich B, Holmes M, Martin JE, Bird A.
Nat Genet. 2001 Mar;27(3):322-6. 
 

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice.

Chen RZ, Akbarian S, Tudor M, Jaenisch R.
Nat Genet. 2001 Mar;27(3):327-31.

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.

Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H.

Neuron. 2002 Jul 18;35(2):243-54.

Reversal of neurological defects in a mouse model of Rett syndrome.

Guy J, Gan J, Selfridge J, Cobb S, Bird A.
Science. 2007 Feb 23;315(5815):1143-7. Epub 2007 Feb 8.

Reviews

The story of Rett syndrome: from clinic to neurobiology.
Chahrour M, Zoghbi HY
Neuron. 2007 Nov 8;56(3):422-37

Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized.
Bienvenu T, Chelly J.
Nat Rev Genet. 2006 Jun;7(6):415-26.