Deciphering Rett syndrome with mouse genetics, epigenomics, and human neurons.
Mutations of MECP2 (methyl-CpG binding protein 2) cause Rett syndrome (RTT). Mouse genetics studies have demonstrated that the lack of functional MeCP2 in the central nervous system leads to RTT-like symptoms, which could be reversed upon MeCP2 restoration. MeCP2 recognizes methylated CpG dinucleotides and may interact with other chromatin remodeling proteins. Although traditionally thought to be a transcription repressor, MeCP2 may also be involved in transcription activation. With the development of new technologies, deciphering the role of MeCP2 on a genome-wide scale is important for understanding of the RTT disease mechanisms.
Tao
Jifang
J
Department of Molecular & Medical Pharmacology and Psychiatry & Behavioral Sciences, University of California, Los Angeles, CA, USA.
Wu
Hao
H
Sun
Yi Eve
YE
D000818:Animals; D023281:Genomics; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology; D051379:Mice; D009474:Neurons / Q000473:pathology*; D011499:Protein Processing, Post-Translational / Q000235:genetics / Q000502:physiology; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology*
C497392:MECP2 protein, human; C497393:Mecp2 protein, mouse; D051783:Methyl-CpG-Binding Protein 2