scholarly journals ESOPHAGEAL MOTILITY DISTURBANCES IN CHILDREN WITH RETT SYNDROME: CORRELATION WITH X-LINKED METHYL CPG BINDING PROTEIN (MECP2) GENE MUTATIONS

2005 ◽  
Vol 41 (4) ◽  
pp. 520-521 ◽  
Author(s):  
John E Fortunato ◽  
Anil Darbari ◽  
John Desbiens ◽  
Geni Bibat ◽  
Sakkubai Naidu ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Esophageal Motility ◽  
Binding Protein ◽  
Gene Mutations ◽  
Mecp2 Gene ◽  
Protein Mecp2

The methyl-CpG-binding protein MeCP2 and neurological disease

2008 ◽  
Vol 36 (4) ◽  
pp. 575-583 ◽  
Author(s):  
Adrian Bird
Keyword(s):  
Dna Methylation ◽  
Rett Syndrome ◽  
Dna Sequences ◽  
Neurological Disease ◽  
Binding Protein ◽  
Autism Spectrum ◽  
Model Systems ◽  
Mecp2 Gene ◽  
Methylated Dna ◽  
Protein Mecp2

The methyl-CpG-binding protein MeCP2 was discovered over 15 years ago as part of a search for proteins that selectively bind methylated DNA. It is a nuclear protein that is largely chromatin-bound and has a strong preference for binding to methylated DNA sequences in vivo. Evidence from model systems shows that MeCP2 can recruit the Sin3a co-repressor complex to promoters leading to transcriptional repression, therefore suggesting that MeCP2 can interpret the DNA methylation signal to bring about gene silencing. Mutations in the human MECP2 gene cause the autism spectrum disorder Rett Syndrome. MeCP2 is most highly expressed in neurons, and mice lacking this protein show symptoms that strikingly parallel those of Rett patients. Surprisingly, these symptoms are efficiently reversed by delayed activation of a ‘stopped’ Mecp2 gene, raising hopes that human Rett syndrome may also be reversible. Future studies of MeCP2 promise to shed light upon brain function, neurological disease and the biology of DNA methylation.

scholarly journals Mutational Analysis of Methyl-CpG Binding Protein 2 (MECP2) Gene in Indian Cases of Rett Syndrome

2013 ◽  
Vol 27 (2) ◽  
pp. 137-142
Author(s):  
Dhanjit Kumar Das ◽  
Vrajesh Udani ◽  
Daksha Sanghavi ◽  
Rashmi Adhia ◽  
Anurupa Maitra
Keyword(s):  
Rett Syndrome ◽  
Mutational Analysis ◽  
Binding Protein ◽  
Mecp2 Gene

Methyl-CpG-binding Protein 2 (MECP2) Gene Mutations in an Italian Sample of Patients with Pervasive Developmental Disorder and Mental Retardation

2009 ◽  
Vol 24 (6) ◽  
pp. 772-774 ◽  
Author(s):  
Antonia Parmeggiani ◽  
Maria Rita Tedde ◽  
Annalisa Arbizzani ◽  
Annio Posar ◽  
Maria Cristina Scaduto ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Pervasive Developmental Disorder ◽  
Developmental Disorder ◽  
Binding Protein ◽  
Gene Mutations ◽  
Mecp2 Gene ◽  
Italian Sample

scholarly journals Pregnancy in a Patient with RETT SYNDROME Mutation: Dilemmas in Management

2021 ◽  
pp. 29-30
Author(s):  
Dr. Srimathy Raman ◽  
Dr. Harshala Shankar ◽  
Dr. Priyanka Shekarappa ◽  
Dr. Savitha Shirodkar ◽  
Dr. Padmalatha Venkataram
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Rett Syndrome ◽  
Pregnancy Outcomes ◽  
Neurodevelopmental Disorder ◽  
Gene Mutations ◽  
Mecp2 Gene

Rett syndrome, a neurodevelopmental disorder is caused by MECP2 gene mutations inherited sporadically or x linked dominant fashion. It almost exclusively affects girls. Genetic testing can help in preventing recurrence by offering prenatal diagnosis in affected families. We discuss the case of a patient who had such a mutation and discuss her pregnancy outcomes.

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: Report of two novel mutations

Gene ◽  
2013 ◽  
Vol 515 (1) ◽  
pp. 78-83 ◽  
Author(s):  
Dhanjit Kumar Das ◽  
Sarbani Raha ◽  
Daksha Sanghavi ◽  
Anurupa Maitra ◽  
Vrajesh Udani
Keyword(s):  
Rett Syndrome ◽  
Gene Mutations ◽  
Mecp2 Gene ◽  
Novel Mutations ◽  
Indian Patients ◽  
Syndrome Report

MeCP2 is a microsatellite binding protein that protects CA repeats from nucleosome invasion

Science ◽  
2021 ◽  
Vol 372 (6549) ◽  
pp. eabd5581 ◽  
Author(s):  
Abdulkhaleg Ibrahim ◽  
Christophe Papin ◽  
Kareem Mohideen-Abdul ◽  
Stéphanie Le Gras ◽  
Isabelle Stoll ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
Binding Protein ◽  
Dna Binding Protein ◽  
Ca Repeat ◽  
Transcriptional Dysregulation ◽  
Genome Wide ◽  
Exact Function ◽  
Dna Shape ◽  
Syndrome Protein ◽  
Protein Mecp2

The Rett syndrome protein MeCP2 was described as a methyl-CpG-binding protein, but its exact function remains unknown. Here we show that mouse MeCP2 is a microsatellite binding protein that specifically recognizes hydroxymethylated CA repeats. Depletion of MeCP2 alters chromatin organization of CA repeats and lamina-associated domains and results in nucleosome accumulation on CA repeats and genome-wide transcriptional dysregulation. The structure of MeCP2 in complex with a hydroxymethylated CA repeat reveals a characteristic DNA shape, with considerably modified geometry at the 5-hydroxymethylcytosine, which is recognized specifically by Arg133, a key residue whose mutation causes Rett syndrome. Our work identifies MeCP2 as a microsatellite DNA binding protein that targets the 5hmC-modified CA-rich strand and maintains genome regions nucleosome-free, suggesting a role for MeCP2 dysfunction in Rett syndrome.

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