Mechanism | Disease | Gene | Effect | Consequences |
---|---|---|---|---|
DNA methylation | Rett syndrome | MeCP2 | Hypermethylation, abnormal mRNA splicing | Transcription repression or activation |
Fragile X syndrome | FMR1 | Promoter hypermethylation | Transcription repression | |
Prader Willi syndrome/Angelman syndrome | del15q11-q13, UBE3A | Aberrant methylation in imprint control region | Transcription repression or activation | |
Immunodeficiency, centromere instability, facial dysmorphism | DNMT3B | Hypomethylation | Transcription activation | |
Alzheimer disease | NEP | CpG island hypomethylation | Transcription activation | |
Histone acetylation | Rubenstein-Taybi syndrome | CBP (HAT) | Reduced histone acetylation, hypertrimethylation of DNA | Transcription repression |
Coffin-Lowry syndrome | RSK32 | Hypophosphorylation of site H3S10 | Increased transcription of MAP kinase genes | |
Oculofaciocardio-dental | BCOR | Disruption of HDACs | Transcription activation | |
Histone methylation | Sotos syndrome | NSD1 | Decreased methylation of sites H4K20, H3K36 | Transcription activation of multiple genes |
Kleefstra syndrome | EHMT1 | Decreased histone methylation | Transcription activation | |
Huntington Disease | HTT | Increased methylation at site H3K9 and possibly H3K27 | Transcription activation |