Figure 1.

Gene and protein structure of MeCP2. (A) Gene structure: NTD = N-Terminal domain, MBD = Methyl-binding domain, ID = Intervening domain, TRD = Transciption repression domain, CTD = C-terminal domain, NID = NCoR intreraction, NLS = Nuclear localizatoin signal. (B) Illustration of MeCP2-E1 and MeCP2-E2 isoforms derived by alternative splicing in MECP2. (C) Genetic features of the mostly used mouse models of RTT. Mecp2^−/y mice were obtained by deleting the exon 3 and 4 (Guy et al., 2001) or by removing the exon 3 (Chen et al., 2001) from the Mecp2 gene. The Mecp2^308/y animal model was produced by inserting the T308X nonsense mutation in exon 4. The resulting truncated protein lacks the C-terminal domain while maintaining the MBD and the TRD portions (Shahbazian et al., 2002). Grey boxes depict the exons that are missing in the MeCP2 protein, while the red arrows indicate the deleted portion.