MECP2

Summary

Gene Symbol: MECP2
Description: methyl-CpG binding protein 2
Alias: AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RTS, RTT, methyl-CpG-binding protein 2, meCp-2 protein, testis tissue sperm-binding protein Li 41a
Species: human

Top Publications

  1. ncbi Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
    Ann L Collins
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 13:2679-89. 2004
  2. ncbi Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
    Mona D Shahbazian
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 11:115-24. 2002
  3. ncbi DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation
    Keri Martinowich
    Neuroscience Interdepartmental Program, UCLA School of Medicine, 760 Westwood Plaza, Los Angeles, CA 90095, USA
    Science 302:890-3. 2003
  4. pmc Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
    Rodney C Samaco
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 106:21966-71. 2009
  5. ncbi Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
    J D Lewis
    Institute of Cell and Molecular Biology, University of Edinburgh, Scotland
    Cell 69:905-14. 1992
  6. doi MeCP2 deficiency is associated with impaired microtubule stability
    Chloe Delepine
    Universite Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France
    FEBS Lett 587:245-53. 2013
  7. pmc Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome
    J L Neul
    Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Room 319C, One Baylor Plaza, Houston, TX 77030, USA
    Neurology 70:1313-21. 2008
  8. pmc Rett syndrome and MeCP2: linking epigenetics and neuronal function
    Mona D Shahbazian
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 71:1259-72. 2002
  9. pmc DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency
    Birgitt Schule
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
    Am J Hum Genet 81:492-506. 2007
  10. pmc Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p
    Kihoon Han
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genes Dev 27:485-90. 2013

Research Grants

  1. Studying the glial contribution to RTT pathogenesis using patient-specific iPSCs
    Qiang Chang; Fiscal Year: 2013
  2. Pathophysiology of MECP2 Spectrum Disorders (Career Development Award Proposal)
    Melissa Beth Ramocki; Fiscal Year: 2012
  3. Investigation of MeCP2 Function in Rett Syndrome
    N Carolyn Schanen; Fiscal Year: 2010
  4. Zhaolan Zhou; Fiscal Year: 2016
  5. Functional circuit disorders of sensory cortex in ASD and RTT
    Gregory C Carlson; Fiscal Year: 2012
  6. DANIEL HIGGINS EBERT; Fiscal Year: 2014
  7. Mriganka Sur; Fiscal Year: 2016
  8. GENETIC ASPECTS OF DNA METHYLATION
    Eric U Selker; Fiscal Year: 2012
  9. microRNA and Down Syndrome
    Karl H Obrietan; Fiscal Year: 2010
  10. Experience-Dependent Redeployment of MeCP2 Across the Mouse Genome
    Qiang Chang; Fiscal Year: 2011

Detail Information

Publications275 found, 100 shown here

  1. ncbi Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
    Ann L Collins
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 13:2679-89. 2004
    Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2), encoding a transcriptional repressor, cause Rett syndrome and a variety of related neurodevelopmental disorders...
  2. ncbi Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation
    Mona D Shahbazian
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 11:115-24. 2002
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene...
  3. ncbi DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation
    Keri Martinowich
    Neuroscience Interdepartmental Program, UCLA School of Medicine, 760 Westwood Plaza, Los Angeles, CA 90095, USA
    Science 302:890-3. 2003
    ..Changes in DNA methylation perturb neuronal function, and mutations in a methyl-CpG-binding protein, MeCP2, are associated with Rett syndrome...
  4. pmc Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
    Rodney C Samaco
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Proc Natl Acad Sci U S A 106:21966-71. 2009
    ..We found that both individuals with RTT and Mecp2-null mice have lower-than-normal levels of aminergic metabolites and content...
  5. ncbi Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
    J D Lewis
    Institute of Cell and Molecular Biology, University of Edinburgh, Scotland
    Cell 69:905-14. 1992
    ..Here we report the identification, purification, and cDNA cloning of a novel MeCP called MeCP2. Unlike MeCP1, the new protein is able to bind to DNA that contains a single methyl-CpG pair...
  6. doi MeCP2 deficiency is associated with impaired microtubule stability
    Chloe Delepine
    Universite Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France
    FEBS Lett 587:245-53. 2013
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by MECP2 mutations. Previous studies performed on Mecp2-deficient brain showed striking changes in neuronal maturation...
  7. pmc Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome
    J L Neul
    Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Room 319C, One Baylor Plaza, Houston, TX 77030, USA
    Neurology 70:1313-21. 2008
    To determine if a relationship exists between the clinical features of Rett syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in MECP2.
  8. pmc Rett syndrome and MeCP2: linking epigenetics and neuronal function
    Mona D Shahbazian
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 71:1259-72. 2002
  9. pmc DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency
    Birgitt Schule
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
    Am J Hum Genet 81:492-506. 2007
    Mutations in MECP2 and Mecp2 (encoding methyl-CpG binding protein 2 [MeCP2]) cause distinct neurological phenotypes in humans and mice, respectively, but the molecular pathology is unclear...
  10. pmc Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p
    Kihoon Han
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Genes Dev 27:485-90. 2013
    ..function in humans requires precise control of levels of the epigenetic regulator methyl CpG-binding protein 2 (MeCP2)...
  11. doi Mechanisms and therapeutic challenges in autism spectrum disorders: insights from Rett syndrome
    Jorge Castro
    Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Curr Opin Neurol 26:154-9. 2013
    ..A promising way to proceed is revealed by the recent studies of rare subsets of ASDs. In this review, we summarize the latest advances in the mechanisms and emerging therapeutics for a rare single-gene ASD, Rett syndrome...
  12. pmc Brain metabolism in Rett syndrome: age, clinical, and genotype correlations
    Alena Horska
    Division of Neuroradiology, The Russell H Morgan Department of Radiology and Radiological Science, Johns Hopkins University, School of Medicine, Baltimore, MD, USA
    Ann Neurol 65:90-7. 2009
    Brain metabolism, as studied by magnetic resonance spectroscopy (MRS), has been previously shown to be abnormal in Rett syndrome (RTT). This study reports the relation of MRS findings to age, disease severity, and genotype.
  13. ncbi Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1
    Hiromichi Kimura
    Laboratory of Cellular Biochemistry, Department of Animal Resource Sciences Veterinary Medical Sciences, University of Tokyo, Tokyo 113 8657, Japan
    J Biol Chem 278:4806-12. 2003
    ..Here we show that the methyl-CpG binding protein, MeCP2, interacts directly with the maintenance DNA methyltransferase, Dnmt1...
  14. doi Interaction between the inner nuclear membrane lamin B receptor and the heterochromatic methyl binding protein, MeCP2
    Alessia Guarda
    Department of Structural and Functional Biology, University of Insubria, Via Alberto da Giussano 12, Busto Arsizio VA, Italy
    Exp Cell Res 315:1895-903. 2009
    ..The Methyl-CpG binding protein MeCP2 binds methyl-CpG dinucleotides in the mammalian genome and functions as a transcriptional repressor in vivo by ..
  15. pmc 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
    Amber Hogart
    Medical Microbiology and Immunology, Rowe Program in Human Genetics, School of Medicine, University of California, Davis, CA 95616, USA
    Hum Mol Genet 16:691-703. 2007
    ..GABRB3 protein expression is also reduced in Rett syndrome (RTT), caused by mutations in MECP2 on Xq28...
  16. pmc Sleep problems in Rett syndrome
    Deidra Young
    Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, 100 Roberts Road, Subiaco, WA 6008, Australia
    Brain Dev 29:609-16. 2007
    ..It is generally caused by mutations in the MECP2 gene...
  17. ncbi Corepressor-dependent silencing of chromosomal regions encoding neuronal genes
    Victoria V Lunyak
    Howard Hughes Medical Institute HHMI, Department of Computer Science and Engineering, School of Medicine, University of California, San Diego, 9500 Gilman Drive, Room 345, La Jolla, CA 92093 0648, USA
    Science 298:1747-52. 2002
    ....
  18. ncbi The methyl-CpG-binding protein MECP2 is required for prostate cancer cell growth
    D Bernard
    Molecular Virology Laboratory, Free University of Brussels, Brussels, Belgium
    Oncogene 25:1358-66. 2006
    ..Here we have examined the possibility that the methyl-CpG-binding protein MECP2 might play a role in controlling the growth of prostate cancer cells...
  19. pmc Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome
    Tiziana Squillaro
    Department of Experimental Medicine, Biotechnology and Molecular Biology Section, Second University of Naples, 80138 Naples, Italy
    Mol Biol Cell 23:1435-45. 2012
    b>MECP2 protein binds preferentially to methylated CpGs and regulates gene expression by causing changes in chromatin structure...
  20. doi MECP2 duplication syndrome in both genders
    Shino Shimada
    Tokyo Women s Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
    Brain Dev 35:411-9. 2013
    Duplications involving the methyl-CpG-binding protein 2 gene (MECP2) locus at Xq28 have been frequently identified in male patients who exhibit a phenotype unique from that of Rett syndrome, which is mainly characterized by severe mental ..
  21. pmc The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism
    Sarika U Peters
    Departments of Pediatrics and Psychiatry, Vanderbilt University, Nashville, TN, USA
    Autism Res 6:42-50. 2013
    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...
  22. ncbi Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions
    K M Aber
    Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
    Neuroscience 116:77-80. 2003
    ..In conjunction with Sin3, MeCP2 recruits class I histone deacetylases to methyl-CpG regions to suppress transcription...
  23. ncbi Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome
    Paolo Moretti
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Neurosci 26:319-27. 2006
    Loss-of-function mutations or abnormal expression of the X-linked gene encoding methyl CpG binding protein 2 (MeCP2) cause a spectrum of postnatal neurodevelopmental disorders including Rett syndrome (RTT), nonsyndromic mental retardation,..
  24. ncbi A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1
    Y Chunshu
    Clin Genet 70:530-1. 2006
  25. ncbi MeCP2 mutations in children with and without the phenotype of Rett syndrome
    K Hoffbuhr
    Research Center for Genetic Medicine, Children s National Medical Center, Washington, DC 20010, USA
    Neurology 56:1486-95. 2001
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 (MeCP2) gene.
  26. doi Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion
    Stavroula Psoni
    Department of Medical Genetics, University of Athens School of Medicine, Choremio Research Laboratory, Aghia Sophia Children s Hospital, Athens 11527, Greece
    Pediatr Res 67:551-6. 2010
    The MECP2 gene mutations cause Rett syndrome (RTT) (OMIM: 312750), an X-linked dominant disorder primarily affecting girls. Until RTT was considered lethal in males, although now approximately 60 cases have been reported...
  27. pmc Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
    P Watson
    Regional Genetic Service, St Mary s Hospital, Hathersage Road, Manchester M13 OJH, UK
    J Med Genet 38:224-8. 2001
    ..Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects ..
  28. ncbi The Ski protein family is required for MeCP2-mediated transcriptional repression
    K Kokura
    Laboratory of Molecular Genetics, RIKEN Tsukuba Institute, Ibaraki 305 0074, Japan
    J Biol Chem 276:34115-21. 2001
    ..b>MeCP2 is the founder member of a family of methyl-CpG-binding proteins...
  29. ncbi Mutation analysis of the coding sequence of the MECP2 gene in infantile autism
    Kim S Beyer
    Department of Molecular Genome Analysis H0600, Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany
    Hum Genet 111:305-9. 2002
    Mutations in the coding region of the methyl-CpG-binding protein 2 ( MECP2) gene cause Rett syndrome and have also been reported in a number of X-linked mental retardation syndromes...
  30. ncbi Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples
    Karen N Thatcher
    Medical Microbiology and Immunology and Rowe Program in Human Genetics, School of Medicine, University of California, Davis, CA 95616, USA
    Hum Mol Genet 14:785-97. 2005
    Rett syndrome (RTT), caused by mutations in MECP2 (encoding methyl CpG binding protein 2), and Angelman syndrome (AS), caused by maternal deficiency of chromosome 15q11-13, are autism-spectrum neurodevelopmental disorders...
  31. doi High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation
    Mário Campos
    Serviço de Genética Humana, Departamento de Genetica, Instituto de Biologia Roberto Alcantara Gomes, Universidade do Estado do Rio de Janeiro, Rua Sao Francisco Xavier, 524, PHLC sala 500, Maracana, 20550 013, Rio de Janeiro, Rio de Janeiro, Brazil
    J Mol Neurosci 41:105-9. 2010
    Structural variations that affect the copy number of the MECP2 gene were shown to cause mental retardation in males by driving the overexpression of this gene...
  32. ncbi MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
    X Nan
    Institute of Cell and Molecular Biology, University of Edinburgh, United Kingdom
    Cell 88:471-81. 1997
    b>MeCP2 is an abundant mammalian protein that binds to methylated CpG. We have found that native and recombinant MeCP2 repress transcription in vitro from methylated promoters but do not repress nonmethylated promoters...
  33. ncbi The solution structure of the domain from MeCP2 that binds to methylated DNA
    R I Wakefield
    Edinburgh Centre for Protein Technology, University of Edinburgh, UK
    J Mol Biol 291:1055-65. 1999
    b>MeCP2 is an abundant mammalian protein that binds methylated CpG (mCpG) sequences within double-stranded DNA, represses transcription by recruiting histone deacetylases, and is essential for embryonic development...
  34. ncbi The diagnosis of autism in a female: could it be Rett syndrome?
    Deidra J Young
    Centre for Child Health Research, Telethon Institute for Child Health Research, University of Western Australia, Perth, WA, Australia
    Eur J Pediatr 167:661-9. 2008
    ..been proposed before Rett syndrome had been diagnosed and compare the spectrum of methyl-CpG binding protein 2 (MECP2) mutations identified among the two groups...
  35. pmc MECP2 duplications in six patients with complex sex chromosome rearrangements
    Amy M Breman
    Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:409-15. 2011
    ..Increased expression of the dosage-sensitive MECP2 gene is considered responsible for the severe neurological impairments observed in affected individuals...
  36. ncbi Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
    J P Cheadle
    Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff, CF14 4XN, UK
    Hum Mol Genet 9:1119-29. 2000
    Mutations in the methyl-CpG-binding protein gene MECP2 at Xq28 cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder characterized by a period of stagnation followed by regression in the development of young girls...
  37. ncbi MECP2 gene mutation analysis in Chinese patients with Rett syndrome
    Hong Pan
    Department of Pediatrics, First Hospital of Peking University, Beijing, PR China
    Eur J Hum Genet 10:484-6. 2002
    ..Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause...
  38. ncbi Study of MECP2 gene in Rett syndrome variants and autistic girls
    Michele Zappella
    Department of Child Neuropsychiatry, Azienda Ospedaliera Senese, Siena, Italy
    Am J Med Genet B Neuropsychiatr Genet 119:102-7. 2003
    Mutations in MECP2 gene account for approximately 80% of cases of Rett syndrome (RTT), an X-linked severe developmental disorder affecting young girls, as well as for most cases of Preserved Speech Variant (PSV), a mild RTT variant in ..
  39. ncbi Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome
    Franco Laccone
    Institute of Human Genetics, University of Gottingen, Germany
    Hum Mutat 23:234-44. 2004
    b>MECP2 mutations are responsible for Rett syndrome (RTT). Approximately a quarter of classic RTT cases, however, do not have an identifiable mutation of the MECP2 gene...
  40. ncbi A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
    Gevork N Mnatzakanian
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    Nat Genet 36:339-41. 2004
    Rett syndrome is caused by mutations in the gene MECP2 in approximately 80% of affected individuals. We describe a previously unknown MeCP2 isoform...
  41. pmc MECP2 mutations in males
    Laurent Villard
    INSERM, U491, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France
    J Med Genet 44:417-23. 2007
    ..RS is caused by mutations in the X-linked methyl CpG-binding protein 2 (MECP2) gene. These mutations were initially thought to be lethal in males...
  42. pmc Unique physical properties and interactions of the domains of methylated DNA binding protein 2
    Rajarshi P Ghosh
    Department of Biology, University of Massachusetts, Amherst, Massachusetts 01003, USA
    Biochemistry 49:4395-410. 2010
    Methylated DNA binding protein 2 (MeCP2) is a methyl CpG binding protein whose key role is the recognition of epigenetic information encoded in DNA methylation patterns...
  43. pmc Linking MECP2 and pain sensitivity: the example of Rett syndrome
    Jenny Downs
    Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Australia
    Am J Med Genet A 152:1197-205. 2010
    Recent animal studies suggest links between MeCP2 function and sensitivity to pain. This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations...
  44. doi Epilepsy in Rett syndrome---the experience of a National Rett Center
    Andreea Nissenkorn
    Pediatric Neurology Unit, Safra Children Hospital, Tel Ha Shomer, Israel
    Epilepsia 51:1252-8. 2010
    ..RTT), an X-linked, dominant neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, presents with acquired microcephaly, autistic regression, hand usage loss, and stereotypies...
  45. pmc Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated
    S Kudo
    Hokkaido Institute of Public Health, Kita 19, Nishi 12, Kita ku, Sapporo 060 0819, Japan
    Mol Cell Biol 18:5492-9. 1998
    ..In order to test whether one of the methyl-CpG-binding proteins, MeCP2, is responsible for transcriptional repression of the leukosialin gene, I isolated the human MeCP2 cDNA (encoding ..
  46. ncbi A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression
    J F Coy
    Deutsches Krebsforschungszentrum, Heidelberg, Germany
    Hum Mol Genet 8:1253-62. 1999
    ..cDNAs were found to be derived from the 3"-untranslated region (3"-UTR) of the methyl-CpG-binding protein 2 gene ( MeCP2 ). This long 3"-UTR is part of an alternatively polyadenylated, 10...
  47. ncbi MECP2 is highly mutated in X-linked mental retardation
    P Couvert
    INSERM Unité 129 ICGM, CHU Cochin 24 Rue du Faubourg Saint Jacques, 75014 Paris, France
    Hum Mol Genet 10:941-6. 2001
    Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of phenotypes, including mental handicap, has been shown to be associated with ..
  48. pmc Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription
    F Yu
    Institut fur Medizinische Biochemie und Molekularbiologie, Universitatsklinikum Hamburg Eppendorf, Martinistrasse 52, D 20246 Hamburg, Germany
    Nucleic Acids Res 29:4493-501. 2001
    ..mechanism by which retrotransposons are repressed, we assessed the ability of methyl-CpG-binding protein 2, MeCP2, to influence LINE-1 (L1) and Alu transcription and, furthermore, L1 retrotransposition...
  49. ncbi A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome
    Jan P Buschdorf
    Institut fur Biochemie und Molekularbiologie I, Universitatsklinikum Hamburg Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany
    J Mol Med (Berl) 82:135-43. 2004
    ..syndrome is a dominant neurological disorder caused by loss-of-function mutations of methyl-CpG-binding protein 2 (MeCP2). MeCP2 is an abundant chromatin-associated protein that contains two well characterized domains...
  50. ncbi DNA binding of methyl-CpG-binding protein MeCP2 in human MCF7 cells
    Christoph Koch
    Institut fur Biochemie und Molekularbiologie I, Universitatsklinikum Hamburg Eppendorf, Martinistrasse 52, D 20246 Hamburg, Germany
    Biochemistry 43:5011-21. 2004
    b>MeCP2 has been identified as a chromatin-associated protein that recognizes MAR elements as well as methyl-CpGs. To characterize target sequences of MeCP2 in human cells, we employed two complementary methods...
  51. ncbi Site-specific DNA methylation by a complex of PU.1 and Dnmt3a/b
    M Suzuki
    Department of Cell Genetics, Sasaki Institute, Tokyo, Japan
    Oncogene 25:2477-88. 2006
    ..1 sometimes represses transcription on forming a complex with mSin3A-histone deacetyl transferase-MeCP2. Here, we show an interaction between PU...
  52. pmc Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation
    Raman P Nagarajan
    Medical Microbiology and Immunology, Rowe Program in Human Genetics, School of Medicine, One Shields Ave, University of California, Davis, CA 95616, USA
    Epigenetics 1:e1-11. 2006
    Mutations in MECP2, encoding methyl CpG binding protein 2 (MeCP2), cause most cases of Rett syndrome (RTT), an X-linked neurodevelopmental disorder...
  53. ncbi MECP2 deletions and genotype-phenotype correlation in Rett syndrome
    Elisa Scala
    Medical Genetics, Molecular Biology Department, University of Siena, Siena, Italy
    Am J Med Genet A 143:2775-84. 2007
    ..b>MECP2 point mutations in exons 2-4 account for about 80% of classic Rett cases and for a lower percentage of variant ..
  54. ncbi The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse
    P Tate
    Institute of Cell and Molecular Biology, University of Edinburgh, UK
    Nat Genet 12:205-8. 1996
    ..b>MeCP2 is an abundant chromosomal protein that binds specifically to methylated DNA in vitro, and depends upon methyl-CpG ..
  55. ncbi Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
    P L Jones
    Laboratory of Molecular Embryology, National Institute of Child Health and Human Development, National Institute of Health, Bethesda, Maryland 20892 5431, USA
    Nat Genet 19:187-91. 1998
    ..Methylated DNA assembled into chromatin binds the transcriptional repressor MeCP2 which cofractionates with Sin3 and histone deacetylase...
  56. ncbi Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions
    K Reichwald
    Institut fur Molekulare Biotechnologie, Abt Genomanalyse, Jena, Germany
    Mamm Genome 11:182-90. 2000
    ..of a 152-kb region on human Chromosome (Chr) Xq28 and of the synthenic 123 kb on mouse Chr XC identified the MECP2/Mecp2 locus, which is flanked by the gene coding for Interleukin-1 receptor associated kinase (IRAK/Il1rak) and ..
  57. ncbi Preserved speech variant is allelic of classic Rett syndrome
    C De Bona
    Genetica Medica, Policlinico Le Scotte, Universita di Siena, Italy
    Eur J Hum Genet 8:325-30. 2000
    ..Here we explore the spectrum of mutations affecting the MECP2 gene in a group of 25 classic Rett syndrome girls and in three patients with the preserved speech variant...
  58. ncbi Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
    Meral Topcu
    Department of Pediatric Neurology, Hacettepe University School of Medicine, Sihhiye, Ankara 0600, Turkey
    Eur J Hum Genet 10:77-81. 2002
    Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene...
  59. ncbi Rett syndrome: clinical manifestations in males with MECP2 mutations
    Bruria Ben Zeev
    Department of Pediatric Neurology, Sheba Medical Center, Tel Hashomer, Israel
    J Child Neurol 17:20-4. 2002
    ..With the recent discovery that the MECP2 gene is responsible for most cases of Rett syndrome, it is possible to molecularly assess cases of affected males ..
  60. ncbi MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain
    Damina Balmer
    Medical Microbiology and Immunology and Rowe Program in Human Genetics, School of Medicine, University of California, Davis, California, USA
    Hum Genet 110:545-52. 2002
    Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2)...
  61. ncbi The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation
    Francois Fuks
    Wellcome Cancer Research UK Institute and Department of Pathology, University of Cambridge, Tennis Court Road, United Kingdom
    J Biol Chem 278:4035-40. 2003
    ..The recruitment of MeCP2 to methylated CpG dinucleotides represents a major mechanism by which DNA methylation can repress transcription...
  62. ncbi Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation
    Damina Balmer
    Medical Microbiology and Immunology, Rowe Program in Human Genetics, School of Medicine, University of California, One Shields Avenue, Davis, CA 95616, USA
    J Mol Med (Berl) 81:61-8. 2003
    Rett syndrome is caused by mutations in MECP2 and characterized by arrested postnatal neurodevelopment...
  63. ncbi Identification of MeCP2 mutations in a series of females with autistic disorder
    Regina M Carney
    Department of Medicine and the Center for Human Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA
    Pediatr Neurol 28:205-11. 2003
    ..indicate that at least 80% of Rett Disorder cases are caused by mutations in the methyl-CpG-binding protein 2 (MeCP2) gene...
  64. ncbi MeCP2 behaves as an elongated monomer that does not stably associate with the Sin3a chromatin remodeling complex
    Robert J Klose
    Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh EH9 3JR, Scotland, United Kingdom
    J Biol Chem 279:46490-6. 2004
    b>MeCP2 is a transcription factor that recognizes and binds symmetrically methylated CpG dinucleotides to repress transcription...
  65. ncbi Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome
    K Ravn
    Clin Genet 67:532-3. 2005
  66. pmc Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
    H L Archer
    J Med Genet 43:451-6. 2006
    b>MECP2 mutations are identifiable in approximately 80% of classic Rett syndrome (RTT), but less frequently in atypical RTT...
  67. ncbi Early progressive encephalopathy in boys and MECP2 mutations
    P Kankirawatana
    Department of Pediatrics, University of Alabama at Birmingham, USA
    Neurology 67:164-6. 2006
    b>MECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy: seven of nine with affected sisters and two de novo...
  68. pmc Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation
    Hayley Archer
    Institute of Medical Genetics, Cardiff University, University Hospital of Wales, Cardiff, UK
    J Med Genet 44:148-52. 2007
    ..RTT) is an X-linked dominant neurodevelopmental disorder that is usually associated with mutations in the MECP2 gene. The most common mutations in the gene are p.R168X and p.T158M...
  69. ncbi Mechanisms of disease: neurogenetics of MeCP2 deficiency
    Uta Francke
    Department of Genetics, Stanford University School of Medicine, Beckman Center for Molecular and Genetic Medicine B201, Stanford, CA 94305 5323, USA
    Nat Clin Pract Neurol 2:212-21. 2006
    ..RTT is caused by heterozygosity for mutations in the X-linked gene MECP2, which encodes methyl-CpG binding protein 2...
  70. ncbi A novel familial MECP2 mutation in a young boy: clinical and molecular findings
    P Ventura
    Department of Neurorehabilitation 2 Psychopathological Disturbances in Childhood and Adolescence, Scientific Institute Eugenio Medea for Research, Hospitalization and Healthcare, Regional Branch of Ostuni BR, Italy
    Neurology 67:867-8. 2006
    ..the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy...
  71. pmc Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin
    Tatiana Nikitina
    Biology Department, University of Massachusetts, Amherst, MA 01003, USA
    Mol Cell Biol 27:864-77. 2007
    Mutations of the methylated DNA binding protein MeCP2, a multifunctional protein that is thought to transmit epigenetic information encoded as methylated CpG dinucleotides to the transcriptional machinery, give rise to the debilitating ..
  72. ncbi Sequence variants within exon 1 of MECP2 occur in females with mental retardation
    Chris G Harvey
    Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, CAMH, University of Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 144:355-60. 2007
    A new splice variant of the Rett syndrome gene, MECP2, was recently identified, that includes coding sequence from exon 1, and is the predominant transcript in the central nervous system...
  73. ncbi Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband
    Simon A Hardwick
    Department of Biological Sciences, Macquarie University, Sydney, Australia
    Eur J Hum Genet 15:1218-29. 2007
    Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations in up to 95% of classical Rett syndrome (RTT) patients...
  74. pmc Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
    Dag H Yasui
    Department of Medical Microbiology and Immunology, Rowe Program in Human Genetics, School of Medicine, University of California, 1 Shields Avenue, Davis, CA 95616, USA
    Proc Natl Acad Sci U S A 104:19416-21. 2007
    Mutations in MECP2 cause the autism-spectrum disorder Rett syndrome. MeCP2 is predicted to bind to methylated promoters and silence transcription. However, the first large-scale mapping of neuronal MeCP2-binding sites on 26...
  75. ncbi MeCP2 deficiency in the brain decreases BDNF levels by REST/CoREST-mediated repression and increases TRKB production
    Liron Abuhatzira
    Department of Cellular Biochemistry and Human Genetics, The Hebrew University, Hadassah Medical School, Jerusalem, Israel
    Epigenetics 2:214-22. 2007
    ..Rett syndrome (RTT) is a neurodevelopmental disorder, caused by mutations in the X-linked methyl CpG binding protein 2 gene (MeCP2)...
  76. doi X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype
    - Xinhua Bao
    Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
    J Child Neurol 23:22-5. 2008
    ..dominant neurodevelopment disorder, which is mainly caused by gene mutation of methyl-CpG-binding protein 2 (MECP2)...
  77. doi Investigating genotype-phenotype relationships in Rett syndrome using an international data set
    A Bebbington
    Telethon Institute of Child Health Research, PO Box 855, West Perth, Western Australia 6872, Australia
    Neurology 70:868-75. 2008
    ..cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified...
  78. pmc Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism
    Susan E Swanberg
    Department of Medical Microbiology and Immunology, Rowe Program in Human Genetics, School of Medicine, University of California, Davis, CA 95616, USA
    Hum Mol Genet 18:525-34. 2009
    Mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), cause the neurodevelopmental disorder Rett syndrome (RTT). Although MECP2 mutations are rare in idiopathic autism, reduced MeCP2 levels are common in autism cortex...
  79. pmc Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism
    C S Loat
    Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King s College London, London, United Kingdom
    Genes Brain Behav 7:754-60. 2008
    The methyl-binding protein gene, MECP2, is a candidate for involvement in autism through its implication as a major causative factor in Rett syndrome that has similarities to autism...
  80. pmc Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 18:2188-203. 2009
    Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males...
  81. pmc Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions
    Izumi Maezawa
    M I N D Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Medical Center, Sacramento, California 95817, USA
    J Neurosci 29:5051-61. 2009
    b>MECP2, an X-linked gene encoding the epigenetic factor methyl-CpG-binding protein-2, is mutated in Rett syndrome (RTT) and aberrantly expressed in autism...
  82. doi Neurologic aspects of MECP2 gene duplication in male patients
    Bernard Echenne
    Neuropediatric Service, CHU Montpellier, Montpellier, France
    Pediatr Neurol 41:187-91. 2009
    Duplications in Xq28 involving the methyl CpG binding protein 2 gene (MECP2) have been described in male patients with severe mental disability, delayed milestones, absence of language, hypotonia replaced by spasticity and retractions, ..
  83. pmc A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations
    Alexander H Joyner
    Scripps Translational Science Institute, 3344 North Torrey Pines Court, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 106:15483-8. 2009
    The gene MECP2 is a well-known determinant of brain structure. Mutations in the MECP2 protein cause microencephalopathy and are associated with several neurodevelopmental disorders that affect both brain morphology and cognition...
  84. doi Partial silencing of methyl cytosine protein binding 2 (MECP2) in mesenchymal stem cells induces senescence with an increase in damaged DNA
    Tiziana Squillaro
    Sbarro Institute for Cancer Research and Molecular Medicine, Center for Biotechnology, Temple University, Philadelphia, Pennsylvania, USA
    FASEB J 24:1593-603. 2010
    DNA methylation is an epigenetic modification that occurs almost exclusively on CpG dinucleotides. MECP2 is a member of a family of proteins that preferentially bind to methylated CpGs...
  85. pmc Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain
    Joanne H Gibson
    Western Sydney Genetics Program, The Children s Hospital at Westmead, Sydney, Australia
    BMC Neurosci 11:53. 2010
    The Rett Syndrome (RTT) brain displays regional histopathology and volumetric reduction, with frontal cortex showing such abnormalities, whereas the occipital cortex is relatively less affected.
  86. pmc The MECP2 duplication syndrome
    Melissa B Ramocki
    Department of Pediatrics, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
    Am J Med Genet A 152:1079-88. 2010
    In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder...
  87. pmc The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis
    Greta Forlani
    Laboratory of Genetic and Epigenetic Control of Gene Expression, Department of Structural and Functional Biology, University of Insubria, 21052 Busto Arsizio, VA, Italy
    Hum Mol Genet 19:3114-23. 2010
    Rett syndrome is a severe neurodevelopmental disorder mainly caused by mutations in the transcriptional regulator MeCP2. Although there is no effective therapy for Rett syndrome, the recently discovered disease reversibility in mice ..
  88. pmc L1 retrotransposition in neurons is modulated by MeCP2
    Alysson R Muotri
    University of California San Diego, School of Medicine, Department of Pediatrics Rady Children s Hospital San Diego, La Jolla, California 92093 0695, USA
    Nature 468:443-6. 2010
    ..transcription and retrotransposition in rodents are increased in the absence of methyl-CpG-binding protein 2 (MeCP2), a protein involved in global DNA methylation and human neurodevelopmental diseases...
  89. pmc Essential role of MeCP2 in the regulation of myofibroblast differentiation during pulmonary fibrosis
    Biao Hu
    Department of Pathology, University of Michigan Medical School, Ann Arbor, MI 48109 2200, USA
    Am J Pathol 178:1500-8. 2011
    ..Using gel shift and chromatin immunoprecipitation (ChIP) assays, methyl CpG binding protein 2 (MeCP2) was shown to bind to the α-SMA gene...
  90. pmc The Rett syndrome protein MeCP2 regulates synaptic scaling
    Zilong Qiu
    Neurobiology Section, Division of Biological Sciences, University of California, San Diego, La Jolla, California 92093 0366, USA
    J Neurosci 32:989-94. 2012
    ..Bicuculline treatment also leads to an increase in the levels of the transcriptional repressor MeCP2, which binds to the GluR2 promoter along with the corepressors HDAC1 and mSin3A...
  91. pmc The impact of MeCP2 loss- or gain-of-function on synaptic plasticity
    Elisa S Na
    Department of Psychiatry, The University of Texas Southwestern Medical Center, Dallas, TX 75390 9070, USA
    Neuropsychopharmacology 38:212-9. 2013
    Methyl-CpG-binding protein 2 (MeCP2) is a transcriptional regulator of gene expression that is an important epigenetic factor in the maintenance and development of the central nervous system...
  92. ncbi Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
    X Nan
    Institute of Cell and Molecular Biology, University of Edinburgh, UK
    Nature 393:386-9. 1998
    ..The methyl-CpG-binding proteins MeCP1 and MeCP2 interact specifically with methylated DNA and mediate transcriptional repression...
  93. ncbi Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    R E Amir
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 23:185-8. 1999
    ..Using a systematic gene screening approach, we have identified mutations in the gene (MECP2 ) encoding X-linked methyl-CpG-binding protein 2 (MeCP2) as the cause of some cases of RTT...
  94. pmc Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots
    M Wan
    Department of Genetics, Stanford University Medical Center, Stanford, CA 94305 5323, USA
    Am J Hum Genet 65:1520-9. 1999
    ..The responsible gene, encoding methyl-CpG binding protein 2 (MeCP2), was recently discovered. Here we explore the spectrum of phenotypes resulting from MECP2 mutations...
  95. ncbi MECP2 mutations account for most cases of typical forms of Rett syndrome
    T Bienvenu
    Laboratoire de Génétique et Physiopathologie des retards mentaux ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint Jacques, 75014 Paris, France
    Hum Mol Genet 9:1377-84. 2000
    ..The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy...
  96. ncbi MECP2 mutation in male patients with non-specific X-linked mental retardation
    A Orrico
    Medical Genetics, Policlinico Le Scotte, Sienna, Italy
    FEBS Lett 481:285-8. 2000
    ..We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental retardation...
  97. ncbi Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
    J Clayton-Smith
    Lancet 356:830-2. 2000
    ..It is an X-linked dominant condition associated with mutations of the MECP2 gene on the distal part of the X-chromosome. If present in a male conceptus, the mutation is usually lethal...
  98. ncbi A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
    V Bourdon
    Laboratoire de Genetique Medicale, UPRES 952
    Hum Genet 108:43-50. 2001
    Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause of Rett syndrome (RTT)...
  99. ncbi MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
    J B Nielsen
    Department of Clinical Genetics, Rigshospitalet University Hospital, University of Copenhagen, Blegdamsvej 9, DK 2100 Copenhagen Ø, Denmark
    Eur J Hum Genet 9:178-84. 2001
    ..In the year 2000, mutations in the gene for the methyl CpG binding protein 2, MECP2, have been identified in 35-80% of the patients in three different studies...
  100. pmc Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease
    L Villard
    INSERM U491, Faculte de Medecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France
    J Med Genet 38:435-42. 2001
    ..5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases.
  101. ncbi Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation
    J Armstrong
    Ann Neurol 50:692. 2001

Research Grants65

  1. Studying the glial contribution to RTT pathogenesis using patient-specific iPSCs
    Qiang Chang; Fiscal Year: 2013
    ..The identification of mutations in the X-linked MECP2 (methyl-CpG binding protein 2) gene as the cause of RTT has led to the creation of mouse models for studying ..
  2. Pathophysiology of MECP2 Spectrum Disorders (Career Development Award Proposal)
    Melissa Beth Ramocki; Fiscal Year: 2012
    b>MECP2 spectrum disorders include classic Rett syndrome, females with Rett syndrome variants, Angelman-like phenotypes, autism, mental retardation, learning disabilities, attention disorders, as well as males with Rett syndrome, fatal ..
  3. Investigation of MeCP2 Function in Rett Syndrome
    N Carolyn Schanen; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): De novo mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) are the primary cause of Rett Syndrome (RTT), an X-linked dominant neurodevelopmental disorder...
  4. Zhaolan Zhou; Fiscal Year: 2016
    ..Understanding the Pathogenic Mechanisms of Rett Syndrome Abstract Mutations in the methyl-CpG binding protein 2 (MECP2) gene cause the autism spectrum disorder Rett Syndrome (RTT)...
  5. Functional circuit disorders of sensory cortex in ASD and RTT
    Gregory C Carlson; Fiscal Year: 2012
    ..by applicant): Rett syndrome (RTT) is a complex developmental disorder primarily arising from mutations in MECP2 and occurring almost entirely in girls...
  6. DANIEL HIGGINS EBERT; Fiscal Year: 2014
    ..fellowship and the proposed career development award, I am investigating the activity-dependent phosphorylation of MeCP2. Mutations in MeCP2 cause many cases of Rett syndrome and other neuropsychiatric disorders...
  7. Mriganka Sur; Fiscal Year: 2016
    ..Mutations in the X-linked MECP2 (methyl-CpG binding protein 2) gene account for 90% of RTT cases...
  8. GENETIC ASPECTS OF DNA METHYLATION
    Eric U Selker; Fiscal Year: 2012
    ..In humans, loss of a DNA methyltransferase (MTase) causes ICF syndrome, loss of the methyl- DNA binding protein MeCP2 causes Rett syndrome and abnormal methylation is associatedwith cancer. ...
  9. microRNA and Down Syndrome
    Karl H Obrietan; Fiscal Year: 2010
    ..Based on these criteria, we chose to investigate the methyl-CpG-binding protein (MeCP2), a transcription factor, as a potentially important Hsa21- derived miRNA target since its 34-untranslated region ..
  10. Experience-Dependent Redeployment of MeCP2 Across the Mouse Genome
    Qiang Chang; Fiscal Year: 2011
    DESCRIPTION (provided by applicant): MeCP2 (methyl-CpG binding protein 2) functions as a molecular linker between DNA methylation, chromatin remodeling and transcription regulation...
  11. Jonathan Kipnis; Fiscal Year: 2016
    ..Expression of wild type Mecp2 in astrocytes of Mecp2-null hosts has been shown to dramatically ameliorate disease pathology...
  12. Chun Jiang; Fiscal Year: 2015
    ..a neurodevelopmental disease caused by the disruption of the X- linked gene encoding methyl-CpG-binding protein 2 (MeCP2)...
  13. Glutamine Transporters SNAT1 and SNAT2 in Rett Syndrome Microglia
    Izumi Maezawa; Fiscal Year: 2013
    ..syndrome (RTT) is a devastating neurodevelopmental disorder caused by loss-of-function mutations in the X-linked MECP2 gene...
  14. TrkB Agonist(s), a Potential Therapy for Autism Spectrum Disorders
    Yi Eve Sun; Fiscal Year: 2010
    ..In RTT mouse models (i.e., MeCP2 null (- /y) mouse), BDNF expression is shown to be substantially reduced, and elevation of BDNF expression by ..
  15. SAKKUBAI R NAIDU; Fiscal Year: 2014
    ..Additionally, our in vitro studies of cultured neurons from mice with a mutation in the MECP2 gene show that they are abnormally sensitive to hypoxia and glutamate mediated excitotoxicity...
  16. Neurobiology of MeCP2 in adult neurogenesis
    Guo li Ming; Fiscal Year: 2012
    ..RTT) is an X-linked dominant disorder caused by loss-of-function mutations in the gene encoding methyl CpG binding protein 2 (MECP2)...
  17. Qiang Chang; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): MeCP2 (methyl-CpG binding protein 2) functions as a molecular linker between DNA methylation, chromatin remodeling and transcription regulation...
  18. Joshua J C Rosenthal; Fiscal Year: 2016
    ..An example is Rett Syndrome, caused by mutations in the Mecp2 gene. Mecp2 gene duplication, as well as loss-of-function, results in severe disease...
  19. Lucas D Pozzo-Miller; Fiscal Year: 2014
    ..RTT is caused by loss-of- function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2), a transcriptional regulator that binds to methylated CpG sites in promoter regions of DNA...
  20. Genetic studies to gain insight into the function of the MeCP2 domains in vivo
    LAURA HECKMAN; Fiscal Year: 2013
    Rett syndrome (RTT) is a debilitating neuropsychiatric disorder caused by mutations in the X-linked methyl CpG binding protein 2 (MECP2) gene, which encodes for a protein with the same name (MeCP2)...
  21. Mary E Donohoe; Fiscal Year: 2014
    ..RTT falls under the umbrella of ASD. Mutations in the X-linked MeCP2 protein situated on the X chromosome are the cause of this genetic disorder...
  22. Postnatal CCR disruption in MeCP2-defective mice
    Chun Jiang; Fiscal Year: 2010
    ..of Autism Spectrum Disorders, is caused by defects in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2), affecting one in every 10,000 live births of females...
  23. Huda Y Zoghbi; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): Methyl-CpG-binding protein 2 (MeCP2) was first purified over twenty years ago and identified as a transcriptional repressor that binds to methylated CpG dinucleotides...
  24. Functional characterization of astrocytes in a mouse model of Rett syndrome
    JAMES MCGANN; Fiscal Year: 2013
    ..Rett syndrome, a neurodevelopmental disease caused by mutations in the gene coding methyl-CpG binding protein 2 (MeCP2)...
  25. Peng Jin; Fiscal Year: 2016
    ..We have also found that the overall abundance of 5-hmC is negatively correlated with the dosage of MeCP2, which is mutated in Rett syndrome...
  26. MeCP2 regulation on LINE-1 retrotransposition in neurons
    Charles A Thomas; Fiscal Year: 2013
    ..Methyl-CpG-binding protein 2 (MeCP2), associated with Rett Syndrome (RTT), is a major regulator of L1 elements in neurons...
  27. Cell-based Genomic Analysis in Mouse Models of Rett Syndrome
    Z Josh Huang; Fiscal Year: 2010
    ..Rett syndrome (RTT), caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2), is arguably the best characterized of the autism spectrum neurodevelopmental disorders...
  28. Lee Way Jin; Fiscal Year: 2015
    DESCRIPTION (provided by applicant): Rett syndrome (RTT) is caused by loss-of-function mutations in the X-linked MECP2 encoding methyl-CpG-binding protein 2 (MeCP2), an epigenetic modulator of gene transcription...
  29. Neurophysiology of Receptive Speech in Rett Syndrome
    John J Foxe; Fiscal Year: 2013
    ..diagnostic criteria for Rett Syndrome (RTT), a devastating developmental disorder caused by known mutations in the MECP2 gene...
  30. ALAN KENNETH PERCY; Fiscal Year: 2016
    ..an inter-institutional group of investigators with long-standing interest in Angelman syndrome (AS), Rett syndrome (RTT), and Prader-Willi syndrome (PWS) to continue a Rare Diseases Clinical Research Center (RDCRC) within the Rare ..
  31. Alysson R Muotri; Fiscal Year: 2015
    ..Here we show preliminary data indicating that methyl-CpG-binding protein 2 (MeCP2), which is associated with Rett Syndrome (RTT), can function as a negative regulator of L1 expression in neural ..
  32. Function of MeCP2 in hESC-derived neurons
    Yi Eve Sun; Fiscal Year: 2012
    ..Project Summary/Abstract Rett syndrome (RTT) is a severe neurodevelopmental disorder that is caused by mutations in MeCP2, a transcriptional repressor that binds to methylated DNA...
  33. Michael E Greenberg; Fiscal Year: 2016
    Summary/Abstract: Mutations in MeCP2, a methyl-CpG-binding protein that functions as a regulator of gene expression, are a major cause of Rett Syndrome (RTT), an X-linked progressive autism spectrum disorder that is among the most ..
  34. Jeffrey L Neul; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): Mutations in the X-linked gene that encodes MeCP2 (MECP2) cause Rett Syndrome (RTT) in girls and severe congenital encephalopathy in boys...
  35. Janine M LaSalle; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): Rett syndrome is caused by mutation in the gene MECP2, encoding an epigenetic factor that binds to methylated DNA throughout the mammalian genome...
  36. Jeannie T Lee; Fiscal Year: 2016
    ..Herein we propose to achieve this by leveraging gene-specific control elements along the Xi to reactivate the model disease gene, MECP2.
  37. PATHOGENESIS OF RETT SYNDROME
    SAKKUBAI R NAIDU; Fiscal Year: 2010
    ..applicant]: Rett syndrome (RS) predominantly affects girls, and is associated in most cases with mutations in the MeCP2 gene...
  38. Mohammad Ali Faghihi; Fiscal Year: 2016
    ..will examine the in vivo effects of Bdnf-AS knockdown on the Bdnf locus, utilizing a mouse model of Rett syndrome (Mecp2 null mice)...
  39. Investigating the homeostatic role of MeCP2 in mature brain
    CHRISTOPHER MCGRAW; Fiscal Year: 2012
    ..RTT) is a neurological disorder almost exclusively affecting females and caused by mutations in the X-linked gene MECP2, which encodes methyl-CpG binding protein 2 (MeCP2)...
  40. Targeted Inhibition of NMD to Enhance the Efficacy of Readthrough Drugs
    Adrian R Krainer; Fiscal Year: 2013
    ..of our approach, we will initially focus on cell-culture experiments with several nonsense alleles of CFTR, MECP2, DMD, and HBB genes, which cause cystic fibrosis, Rett syndrome, Duchenne muscular dystrophy, and beta-thalassemia,..
  41. OLFACTORY ABNORMALITIES IN THE MODELING OF RETT SYNDROME
    Gabriele V Ronnett; Fiscal Year: 2013
    ..RTT is caused by mutation of methyl-CpG binding protein 2 (MeCP2), a transcription factor...
  42. Qizhi Gong; Fiscal Year: 2015
    ..provided by applicant): Rett syndrome is a neurodevelopmental disorder caused by mutations in the methyl CpG binding protein 2 gene (Mecp2)...
  43. Neuronal: Glial Interactions Underlying Rett Syndrome
    Gail Mandel; Fiscal Year: 2012
    ..neurological disorder in humans that results from mutations in the gene encoding methyl-CpG binding protein 2, MeCP2. One of the mysteries surrounding RTT is that although MeCP2 is a ubiquitous protein, the manifestations of the ..
  44. Probing Disrupted Cortico-thalamic Interactions in Autism Spectrum Disorders
    MICHELA contact FAGIOLINI; Fiscal Year: 2010
    ..To test this hypothesis, we will take advantage of MeCP2 deficient mouse, an animal model of Rett Syndrome (RTT). RTT is a neurodevelopment disorder associated with ASD...
  45. Insight into MeCP2 function raises therapeutic possibilities for Rett Syndrome
    Stavros Lomvardas; Fiscal Year: 2013
    ..of autism spectrum disorders, and it is one of the few in which the underlying genetic cause, mutations on the MeCP2 gene, has been identified...
  46. Circuit-based therapy for rett syndrome
    Michela Fagiolini; Fiscal Year: 2010
    ..Mutations in MeCP2 gene account for 80% of RTT cases...
  47. CaM-kinase I regulation of synaptic development via MeCP2
    MARY HENG; Fiscal Year: 2010
    ..Recent findings demonstrate that translation of MeCP2, the transcriptional repressor protein involved in RTT, is suppressed by CREB-dependent transcription of ..
  48. Lucas D Pozzo-Miller; Fiscal Year: 2014
    ..and society RTT is caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2), a transcriptional regulator that binds to methylated CpG sites in promoter regions of several genes, including ..
  49. Modulation of Rett-Like Phenotypes in Mouse Models of Rett Syndrome
    JUAN ISAAC YOUNG; Fiscal Year: 2013
    ..Indeed, both disorders are considered as pervasive developmental disorders (PDD). RTT is caused by mutations in MECP2, located in the X chromosome and encoding for MeCP2, a nuclear protein that binds to methylated CpGs and regulates ..
  50. Zhong Wei Zhang; Fiscal Year: 2014
    ..Mutations in the gene encoding MeCP2 (methyl-CpG binding protein 2) are the cause of RTT...
  51. Background sodium currents in respiratory pacemakers
    ANDREW TRYBA; Fiscal Year: 2009
    ..P can restore regular respiratory activity to otherwise irregular respiratory network activity generated by MECP2-/-, which share the same mutation and breathing irregularities as Rett children...
  52. The role of PRR7 in gene transcription and synaptic function
    DANA OR SAVARIEGO; Fiscal Year: 2013
    ..the pathogenesis of Rett-syndrome and Rubenstein-Taybi syndrome result from mutations in the transcription factor MeCP2 and the transcription co-activator CBP, respectively...
  53. Circuitry, plasticity and gene expression in a mouse model of Rett Syndrome
    Sacha B Nelson; Fiscal Year: 2012
    Rett Syndrome is a devastating developmental disorder due in most cases to mutation of the gene Mecp2. Affected individuals lose or fail to develop many normal language, motor and cognitive abilities...
  54. Behavioral and synaptic consequences of MeCP2 phosphorylation
    ASHLEY NICOLE HUTCHINSON; Fiscal Year: 2012
    ..provided by applicant): This proposal addresses the behavioral consequences of monoaminergic regulation of MeCP2, a methyl- DNA binding protein that plays a role in synapse development and whose loss-of-function mutations ..
  55. Respiratory Circuit Dysfunction in Rett Syndrome
    David M Katz; Fiscal Year: 2013
    ..by applicant): Rett syndrome (RTT) is a complex Autism Spectrum Disorder (ASD) that is caused by mutations in the MECP2 gene and affects approximately 1 in 10,000 live female births worldwide...
  56. MeCP2 and GABAergic Transmission
    Zhong Wei Zhang; Fiscal Year: 2010
    ..Mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2) and the loss of MeCP2 function in the brain are the primary cause of RTT...
  57. MOLECULAR MECHANISMS LEADING TO RETT SYNDROME
    Uta Francke; Fiscal Year: 2002
    DESCRIPTION: (Verbatim from the Applicant's Abstract) Rett Syndrome (RTT) is a neurological disorder of early childhood onset that is characterized by developmental regression with loss of speech an of purposeful hand use, microcephaly ..
  58. Synapse Remodeling in Mecp2 Mouse Models
    Chinfei Chen; Fiscal Year: 2009
    ..Mutations in the methyl-CpG-binding protein 2 gene (MECP2) have been found to be responsible for the majority of cases of RTT...
  59. Pathogenesis of the Movement Disorders of Rett Syndrome
    Paolo Moretti; Fiscal Year: 2004
    ..RTT is caused by loss of function mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2), a transcriptional repressor that binds to methylated CpG dinucleotides...
  60. Pathophysiology of Rett Syndrome /MECP2 Mutations
    Huda Zoghbi; Fiscal Year: 2005
    ..80% of girls with RTT have mutations in the gene encoding methyl-CpG- binding protein 2 (MeCP2), a transcriptional repressor that binds methylated cytosines...
  61. Role of Excitation and Inhibition in Rett Syndrome
    Hsiao Tuan Chao; Fiscal Year: 2009
    b>MeCP2 is a transcriptional repressor critical for normal neurological function...
  62. Immune System in Rett Syndrome
    Jonathan Kipnis; Fiscal Year: 2010
    ..The mutation in the X-linked gene, encoding for methyl- CpG binding protein 2 (MeCP2), accounts for over 80% of RTT cases...
  63. Heart Rate Variability in Mecp2 Deficient Mice
    JOHN BISSONNETTE; Fiscal Year: 2005
    ..Mutations in the methyl-CpG (cytosine-guanine dinucleotide) binding protein 2 (Mecp2) have been observed in almost 80% of Rett syndrome patients...
  64. Clinical Trials in Rett Syndrome Conference
    Walter Kaufmann; Fiscal Year: 2005
    ..1) to assess the present state-of-the-art research in clinical trials and early intervention in Rett syndrome (RTT), (2) to provide a forum for an active exchange of scientific information, regarding RTT diagnosis and treatment, ..
  65. Chromatin Alterations in Rett Syndrome
    Schahram Akbarian; Fiscal Year: 2009
    ..It is associated with deleterious mutations of the gene encoding methyI-CpG-binding protein 2 (MECP2) but it remains unclear how MECP2-deficiency results in neuronal disease...