The role of Methyl-CpG Binding Protein 2 in Rett课件.ppt

The role of Methyl-CpG Binding Protein 2 in Rett Syndrome Jessica Connor Rett Syndrome is a neurodevelopmental disorder Hypotonia – loss of muscle tone Apraxia —inability to perform motor functions loss of use hands repetitive hand movements diminished eye contact gait abnormalities lack of speech development Other Symptoms autism like behaviors toe walking sleep problems cognitive disabilities seizures breathing problems teeth grinding difficulty chewing Rett syndrome is caused by mutations in the MECP2 gene MECP2 GO Terms Suggest Function Biological Process Negative regulation of transcription from RNA polymerase II promoter Cellular Component Mitochondrion Nucleolus Nucleus *Also noted in Uniprot Molecular Function DNA binding Double stranded methylated DNA binding Protein binding Transcription corepressor activity MECP2 Mouse GO Terms Shed More Light on Role in Rett Syndrome Behavior adult locamotory behavior response to hypoxia social behavior Neurological brain development cerebellum development dendrite development long term synaptic potentiation negative regulation of neuron apoptosis neurite development neuromuscular process controlling posture neuron differentiation neuron maturation synaptic transmission synaptogenesis Transcription negative regulation of transcription, DNA dependent positive regulation of transcription, DNA dependent regulation of transcription Epigenetics chromatin silencing genetic imprinting histone acetylation histone methylation regulation of gene expression, epigenetic Other catecholamine secretion (hormone controlling fight or flight response) respiratory gaseous exchange The MECP2 gene encodes the MECP2 protein MECP2 homologs are found in other mammals Phylogeny.fr MECP2 domains are well conserved in homologs Homo sapiens…………...... Pan troglodytes…………… Canis lupus familiaris ……. Bos taurus………………… Rattus norvegicus………… Mus musculus…………….. Danio rerio………………… The MECP2 protein represses transcription of