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MeCP2 modulates gene expression pathways in astrocytes / Dag H. YASUI in Molecular Autism, (January 2013)
[article]
Titre : MeCP2 modulates gene expression pathways in astrocytes Type de document : Texte imprimé et/ou numérique Auteurs : Dag H. YASUI, Auteur ; Huichun XU, Auteur ; Keith DUNAWAY, Auteur ; Janine M. LASALLE, Auteur ; Lee-Way JIN, Auteur ; Izumi MAEZAWA, Auteur Année de publication : 2013 Article en page(s) : 11 p. Mots-clés : MeCP2 Epigenetics Astrocytes Rett syndrome ChIP-seq Transcription Factors/chemistry/genetics Index. décimale : PER Périodiques Résumé : BACKGROUND:Mutations in MECP2 encoding methyl-CpG-binding protein 2 (MeCP2) cause the X-linked neurodevelopmental disorder Rett syndrome. Rett syndrome patients exhibit neurological symptoms that include irregular breathing, impaired mobility, stereotypic hand movements, and loss of speech. MeCP2 protein epigenetically modulates gene expression through genome-wide binding to methylated CpG dinucleotides. While neurons have the highest level of MeCP2 expression, astrocytes and other cell types also express detectable levels of MeCP2. Recent studies suggest that astrocytes likely control the progression of Rett syndrome. Thus, the object of these studies was to identify gene targets that are affected by loss of MeCP2 binding in astrocytes.METHODS:To identify gene targets of MeCP2 in astrocytes, combined approaches of expression microarray and chromatin immunoprecipitation of MeCP2 followed by sequencing (ChIP-seq) were compared between wild-type and MeCP2-deficient astrocytes. MeCP2 gene targets were compared with genes in the top 10% of MeCP2 binding levels in gene windows either within 2 kb upstream of the transcription start site, or the 'gene body' that extended from transcription start to end site, or 2 kb downstream of the transcription end site.RESULTS:A total of 118 gene transcripts surpassed the highly significant threshold (P 0.005, fold change 1.2) in expression microarray analysis from triplicate cultures. The top 10% of genes with the highest levels of MeCP2 binding were identified in two independent ChIP-seq experiments. Together this integrated, genome-wide screen for MeCP2 target genes provided an overlapping list of 19 high-confidence MeCP2-responsive gene transcripts in astrocytes. Validation of candidate target gene transcripts by RT-PCR revealed that expression of Apoc2, Cdon, Csrp and Nrep were consistently responsive to MeCP2 deficiency in astrocytes.CONCLUSIONS:The first MeCP2 ChIP-seq and gene expression microarray analysis in astrocytes reveals a set of potential MeCP2 target genes that may contribute to normal astrocyte signaling, cell division and neuronal support functions, the loss of which may contribute to the Rett syndrome phenotype. En ligne : http://dx.doi.org/10.1186/2040-2392-4-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202
in Molecular Autism > (January 2013) . - 11 p.[article] MeCP2 modulates gene expression pathways in astrocytes [Texte imprimé et/ou numérique] / Dag H. YASUI, Auteur ; Huichun XU, Auteur ; Keith DUNAWAY, Auteur ; Janine M. LASALLE, Auteur ; Lee-Way JIN, Auteur ; Izumi MAEZAWA, Auteur . - 2013 . - 11 p.
in Molecular Autism > (January 2013) . - 11 p.
Mots-clés : MeCP2 Epigenetics Astrocytes Rett syndrome ChIP-seq Transcription Factors/chemistry/genetics Index. décimale : PER Périodiques Résumé : BACKGROUND:Mutations in MECP2 encoding methyl-CpG-binding protein 2 (MeCP2) cause the X-linked neurodevelopmental disorder Rett syndrome. Rett syndrome patients exhibit neurological symptoms that include irregular breathing, impaired mobility, stereotypic hand movements, and loss of speech. MeCP2 protein epigenetically modulates gene expression through genome-wide binding to methylated CpG dinucleotides. While neurons have the highest level of MeCP2 expression, astrocytes and other cell types also express detectable levels of MeCP2. Recent studies suggest that astrocytes likely control the progression of Rett syndrome. Thus, the object of these studies was to identify gene targets that are affected by loss of MeCP2 binding in astrocytes.METHODS:To identify gene targets of MeCP2 in astrocytes, combined approaches of expression microarray and chromatin immunoprecipitation of MeCP2 followed by sequencing (ChIP-seq) were compared between wild-type and MeCP2-deficient astrocytes. MeCP2 gene targets were compared with genes in the top 10% of MeCP2 binding levels in gene windows either within 2 kb upstream of the transcription start site, or the 'gene body' that extended from transcription start to end site, or 2 kb downstream of the transcription end site.RESULTS:A total of 118 gene transcripts surpassed the highly significant threshold (P 0.005, fold change 1.2) in expression microarray analysis from triplicate cultures. The top 10% of genes with the highest levels of MeCP2 binding were identified in two independent ChIP-seq experiments. Together this integrated, genome-wide screen for MeCP2 target genes provided an overlapping list of 19 high-confidence MeCP2-responsive gene transcripts in astrocytes. Validation of candidate target gene transcripts by RT-PCR revealed that expression of Apoc2, Cdon, Csrp and Nrep were consistently responsive to MeCP2 deficiency in astrocytes.CONCLUSIONS:The first MeCP2 ChIP-seq and gene expression microarray analysis in astrocytes reveals a set of potential MeCP2 target genes that may contribute to normal astrocyte signaling, cell division and neuronal support functions, the loss of which may contribute to the Rett syndrome phenotype. En ligne : http://dx.doi.org/10.1186/2040-2392-4-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=202 Brief Report: MECP2 Mutations in People Without Rett Syndrome / Bernhard SUTER in Journal of Autism and Developmental Disorders, 44-3 (March 2014)
[article]
Titre : Brief Report: MECP2 Mutations in People Without Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Bernhard SUTER, Auteur ; Diane TREADWELL-DEERING, Auteur ; Huda Y. ZOGHBI, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur Article en page(s) : p.703-711 Langues : Anglais (eng) Mots-clés : Rett syndrome Autism Neurodevelopmental disorders MECP2 Epigenetics Neurogenetics Index. décimale : PER Périodiques Résumé : Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient’s symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria. En ligne : http://dx.doi.org/10.1007/s10803-013-1902-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=225
in Journal of Autism and Developmental Disorders > 44-3 (March 2014) . - p.703-711[article] Brief Report: MECP2 Mutations in People Without Rett Syndrome [Texte imprimé et/ou numérique] / Bernhard SUTER, Auteur ; Diane TREADWELL-DEERING, Auteur ; Huda Y. ZOGHBI, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur . - p.703-711.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 44-3 (March 2014) . - p.703-711
Mots-clés : Rett syndrome Autism Neurodevelopmental disorders MECP2 Epigenetics Neurogenetics Index. décimale : PER Périodiques Résumé : Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient’s symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria. En ligne : http://dx.doi.org/10.1007/s10803-013-1902-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=225 Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome / S. U. PETERS in Journal of Autism and Developmental Disorders, 43-10 (October 2013)
[article]
Titre : Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; A. K. WILSON, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; M. B. RAMOCKI, Auteur Article en page(s) : p.2484-2490 Langues : Anglais (eng) Mots-clés : Regression MECP2 Seizures Index. décimale : PER Périodiques Résumé : The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in “other skill” areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression. En ligne : http://dx.doi.org/10.1007/s10803-013-1796-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=215
in Journal of Autism and Developmental Disorders > 43-10 (October 2013) . - p.2484-2490[article] Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome [Texte imprimé et/ou numérique] / S. U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; A. K. WILSON, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; M. B. RAMOCKI, Auteur . - p.2484-2490.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 43-10 (October 2013) . - p.2484-2490
Mots-clés : Regression MECP2 Seizures Index. décimale : PER Périodiques Résumé : The aim of this study was to determine the frequency, timing, and associated features of developmental regression in MECP2 duplication syndrome. We also examined whether duplication size was associated with regression. Comprehensive psychological evaluations were used to assess 17 boys with MECP2 duplication syndrome. Information about regression was gathered via parent report. Eight of 17 boys exhibited regression in language skills, while seven of 17 exhibited regression in other skill areas. Regression in “other skill” areas coincided with seizure onset and with a prior autism diagnosis in six of seven participants. Regression was not associated with duplication size. Questions remain as to why some boys regress, and future work is necessary to understand the underlying mechanism(s) that causes regression. En ligne : http://dx.doi.org/10.1007/s10803-013-1796-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=215 The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism / Sarika U. PETERS in Autism Research, 6-1 (February 2013)
[article]
Titre : The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism Type de document : Texte imprimé et/ou numérique Auteurs : Sarika U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; Amy K. WILSON, Auteur ; Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; Melissa B. RAMOCKI, Auteur Année de publication : 2013 Article en page(s) : p.42-50 Langues : Anglais (eng) Mots-clés : autism MECP2 genetics phenotype social affect overexpression Index. décimale : PER Périodiques Résumé : Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD. Within the MECP2 duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2 duplication syndrome (ages 3–10) with a chronological and mental age-matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with MECP2 duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with MECP2 duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of MECP2 duplication syndrome. Our results illustrate that overexpression/increased dosage of MECP2 is related to core features of ASD. En ligne : http://dx.doi.org/10.1002/aur.1262 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192
in Autism Research > 6-1 (February 2013) . - p.42-50[article] The Behavioral Phenotype in MECP2 Duplication Syndrome: A Comparison With Idiopathic Autism [Texte imprimé et/ou numérique] / Sarika U. PETERS, Auteur ; Rachel J. HUNDLEY, Auteur ; Amy K. WILSON, Auteur ; Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Claudia M. B. CARVALHO, Auteur ; James R. LUPSKI, Auteur ; Melissa B. RAMOCKI, Auteur . - 2013 . - p.42-50.
Langues : Anglais (eng)
in Autism Research > 6-1 (February 2013) . - p.42-50
Mots-clés : autism MECP2 genetics phenotype social affect overexpression Index. décimale : PER Périodiques Résumé : Alterations in the X-linked gene MECP2 encoding the methyl-CpG-binding protein 2 have been linked to autism spectrum disorders (ASDs). Most recently, data suggest that overexpression of MECP2 may be related to ASD. To better characterize the relevance of MECP2 overexpression to ASD-related behaviors, we compared the core symptoms of ASD in MECP2 duplication syndrome to nonverbal mental age-matched boys with idiopathic ASD. Within the MECP2 duplication group, we further delineated aspects of the behavioral phenotype and also examined how duplication size and gene content corresponded to clinical severity. We compared ten males with MECP2 duplication syndrome (ages 3–10) with a chronological and mental age-matched sample of nine nonverbal males with idiopathic ASD. Our results indicate that boys with MECP2 duplication syndrome share the core behavioral features of ASD (e.g. social affect, restricted/repetitive behaviors). Direct comparisons of ASD profiles revealed that a majority of boys with MECP2 duplication syndrome are similar to idiopathic ASD; they have impairments in social affect (albeit to a lesser degree than idiopathic ASD) and similar severity in restricted/repetitive behaviors. Nonverbal mental age did not correlate with severity of social impairment or repetitive behaviors. Within the MECP2 duplication group, breakpoint size does not predict differences in clinical severity. In addition to social withdrawal and stereotyped behaviors, we also found that hyposensitivity to pain/temperature are part of the behavioral phenotype of MECP2 duplication syndrome. Our results illustrate that overexpression/increased dosage of MECP2 is related to core features of ASD. En ligne : http://dx.doi.org/10.1002/aur.1262 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=192
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : The Function of MeCP2 and Its Causality in Rett Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Janine M. LAMONICA, Auteur ; Zhaolan ZHOU, Auteur Année de publication : 2016 Importance : p.101-112 Langues : Anglais (eng) Mots-clés : Autism MeCP2 Mouse models Rett syndrome Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Methyl-CpG binding protein 2 (MeCP2) is a member of the methyl-CpG binding domain family of nuclear proteins with binding affinity for methylated deoxyribonucleic acid. Mutations in the X-linked MECP2 gene are the monogenic origin of Rett syndrome (RTT), a neurological disorder that is the most common cause of intellectual disability in young girls. After a period of normal development, patients lose learned language and motor skills and develop numerous symptoms including seizures, repetitive hand movements, respiratory irregularities, and autistic-like features. The pathogenic mechanisms by which dysfunction of the ubiquitously expressed MeCP2 leads to the unique symptoms of RTT have been intensely studied for 15 years. This chapter highlights the still-evolving concept of MeCP2 as a multifunctional protein and our current understanding of the molecular mechanisms and synaptic dysfunction underlying RTT through the study of Mecp2 mouse models. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00007-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 The Function of MeCP2 and Its Causality in Rett Syndrome [Texte imprimé et/ou numérique] / Janine M. LAMONICA, Auteur ; Zhaolan ZHOU, Auteur . - 2016 . - p.101-112.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autism MeCP2 Mouse models Rett syndrome Synapse Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Methyl-CpG binding protein 2 (MeCP2) is a member of the methyl-CpG binding domain family of nuclear proteins with binding affinity for methylated deoxyribonucleic acid. Mutations in the X-linked MECP2 gene are the monogenic origin of Rett syndrome (RTT), a neurological disorder that is the most common cause of intellectual disability in young girls. After a period of normal development, patients lose learned language and motor skills and develop numerous symptoms including seizures, repetitive hand movements, respiratory irregularities, and autistic-like features. The pathogenic mechanisms by which dysfunction of the ubiquitously expressed MeCP2 leads to the unique symptoms of RTT have been intensely studied for 15 years. This chapter highlights the still-evolving concept of MeCP2 as a multifunctional protein and our current understanding of the molecular mechanisms and synaptic dysfunction underlying RTT through the study of Mecp2 mouse models. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00007-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Variable phenotypic expression of a MECP2 mutation in a family / K. AUGENSTEIN in Journal of Neurodevelopmental Disorders, 1-4 (December 2009)
PermalinkAutonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study / J. MACKAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
PermalinkEffects of early-life exposure to THIP on phenotype development in a mouse model of Rett syndrome / W. ZHONG in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
PermalinkGenetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center / Xiaoli DU in Journal of Autism and Developmental Disorders, 52-11 (November 2022)
PermalinkThe feasibility of using actigraphy to characterize sleep in Rett syndrome / A. M. MERBLER in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
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