Functional characterization of MeCP2 and MECP2 mutations on MET transcriptional activation. (a) Luciferase reporter assays demonstrate differential activation of the MET promoter by MeCP2. MET luciferase reporter constructs containing rs1858830 G or C were transiently transfected into HEK cells with or without addition of MECP2 cDNA. *P<0.001. (b) Schematic of the MeCP2 protein structure with common RTT-causing mutations (MBD; TRD, transcription repressor domain; NLS, nuclear localization signal). (c) Luciferase assays of MECP2 mutations cotransfected with MET promoter luciferase showed altered transcription compared with wild-type MECP2. (red line-rs1858830 C allele+WT MECP2; blue line-rs1858830 G allele+WT MECP2). *P<0.05 compared with rs1858830 allele (G or C respectively)+ WT MECP2. Fold of luciferase activation was calculated after normalization against an empty luciferase control vector. All transfections were performed in triplicate.
{}