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
Products:     MECP2

Top Publications

  1. Lunyak V, Burgess R, Prefontaine G, Nelson C, Sze S, Chenoweth J, et al. Corepressor-dependent silencing of chromosomal regions encoding neuronal genes. Science. 2002;298:1747-52 pubmed
  2. Venâncio M, Santos M, Pereira S, Maciel P, Saraiva J. An explanation for another familial case of Rett syndrome: maternal germline mosaicism. Eur J Hum Genet. 2007;15:902-4 pubmed
    ..Mutations in the X-linked gene methyl CpG-binding protein 2 (MECP2) have been found in most patients...
  3. Signorini C, De Felice C, Leoncini S, Giardini A, D Esposito M, Filosa S, et al. F₄-neuroprostanes mediate neurological severity in Rett syndrome. Clin Chim Acta. 2011;412:1399-406 pubmed publisher
    ..RTT) is a pervasive development disorder, mainly caused by mutations in the methyl-CpG binding protein 2 (MeCP2) gene. No reliable biochemical markers of the disease are available...
  4. Singh J, Saxena A, Christodoulou J, Ravine D. MECP2 genomic structure and function: insights from ENCODE. Nucleic Acids Res. 2008;36:6035-47 pubmed publisher
    b>MECP2, a relatively small gene located in the human X chromosome, was initially described with three exons transcribing RNA from which the protein MeCP2 was translated...
  5. Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet. 2005;77:442-53 pubmed
    Loss-of-function mutations of the MECP2 gene at Xq28 are associated with Rett syndrome in females and with syndromic and nonsyndromic forms of mental retardation (MR) in males...
  6. Adegbola A, Gonzales M, Chess A, LaSalle J, Cox G. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet. 2009;124:615-23 pubmed publisher
    The MECP2 gene on Xq28 encodes a transcriptional repressor, which binds to and modulates expression of active genes...
  7. Gonzales M, LaSalle J. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010;12:127-34 pubmed publisher
    Methyl CpG binding protein-2 (MeCP2) is an essential epigenetic regulator in human brain development...
  8. Klauck S, Lindsay S, Beyer K, Splitt M, Burn J, Poustka A. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet. 2002;70:1034-7 pubmed
    ..PPM-X) in a three-generation family manifesting the disorder as a mutation in the methyl-CpG binding-protein 2 (MECP2) gene in Xq28. The A140V mutation was found in all affected males and all carrier females in the family...
  9. Balmer D, Arredondo J, Samaco R, LaSalle J. MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain. Hum Genet. 2002;110:545-52 pubmed
    Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2)...

More Information

Publications153 found, 100 shown here

  1. Gonzales M, Adams S, Dunaway K, LaSalle J. Phosphorylation of distinct sites in MeCP2 modifies cofactor associations and the dynamics of transcriptional regulation. Mol Cell Biol. 2012;32:2894-903 pubmed publisher
    Mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2) lead to disrupted neuronal function and can cause the neurodevelopmental disorder Rett syndrome...
  2. Moretti P, Levenson J, Battaglia F, Atkinson R, Teague R, Antalffy B, et al. Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006;26:319-27 pubmed
    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,..
  3. Leoncini S, De Felice C, Signorini C, Pecorelli A, Durand T, Valacchi G, et al. Oxidative stress in Rett syndrome: natural history, genotype, and variants. Redox Rep. 2011;16:145-53 pubmed publisher
    Rett syndrome (RTT) is an X-linked autism spectrum disorder caused by mutations in the MeCP2 gene in the great majority of cases. Evidence suggests a potential role of oxidative stress (OS) in its pathogenesis...
  4. Shibayama A, Cook E, Feng J, Glanzmann C, Yan J, Craddock N, et al. MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. Am J Med Genet B Neuropsychiatr Genet. 2004;128B:50-3 pubmed
    Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT) and have also been reported in a number of X-linked mental retardation syndromes...
  5. Young D, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, et al. The diagnosis of autism in a female: could it be Rett syndrome?. Eur J Pediatr. 2008;167:661-9 pubmed
    ..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...
  6. Peters S, Hundley R, Wilson A, Warren Z, Vehorn A, Carvalho C, et al. The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism. Autism Res. 2013;6:42-50 pubmed publisher
    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...
  7. Nielsen J, Henriksen K, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N. 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. Eur J Hum Genet. 2001;9:178-84 pubmed
    ..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...
  8. Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet. 2000;9:1369-75 pubmed
    Only recently have mutations in MECP2 been found to be a cause of Rett Syndrome (RTT), a neuro-developmental disorder characterized by mental retardation, loss of expressive speech, deceleration of head growth and loss of acquired skills ..
  9. Hardwick S, Reuter K, Williamson S, Vasudevan V, Donald J, Slater K, et al. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet. 2007;15:1218-29 pubmed
    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...
  10. Topcu M, Akyerli C, Sayi A, Toruner G, Koçoğlu S, Cimbiş M, et al. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet. 2002;10:77-81 pubmed
    Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene...
  11. Klose R, Bird A. MeCP2 behaves as an elongated monomer that does not stably associate with the Sin3a chromatin remodeling complex. J Biol Chem. 2004;279:46490-6 pubmed
    b>MeCP2 is a transcription factor that recognizes and binds symmetrically methylated CpG dinucleotides to repress transcription...
  12. Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris C, et al. Early progressive encephalopathy in boys and MECP2 mutations. Neurology. 2006;67:164-6 pubmed
    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...
  13. Prescott T, Rødningen O, Bjørnstad A, Stray Pedersen A. Two brothers with a microduplication including the MECP2 gene: rapid head growth in infancy and resolution of susceptibility to infection. Clin Dysmorphol. 2009;18:78-82 pubmed publisher
    Microduplications in chromosome Xq28, which include the methyl-CPG binding protein (MECP2) gene, cause severe X-linked mental retardation. Serious recurrent infections are a feature of this condition...
  14. Downs J, Géranton S, Bebbington A, Jacoby P, Bahi Buisson N, Ravine D, et al. Linking MECP2 and pain sensitivity: the example of Rett syndrome. Am J Med Genet A. 2010;152A:1197-205 pubmed publisher
    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...
  15. Liu J, Francke U. Identification of cis-regulatory elements for MECP2 expression. Hum Mol Genet. 2006;15:1769-82 pubmed
    ..RTT) is an X-linked dominant disabling neurodevelopmental disorder caused by loss of function mutations in the MECP2 gene, located at Xq28, which encodes a multifunctional protein...
  16. Schule B, Armstrong D, Vogel H, Oviedo A, Francke U. Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. Clin Genet. 2008;74:116-26 pubmed publisher
    Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from Rett syndrome (RTT)...
  17. Webb R, Wren J, Jeffries M, Kelly J, Kaufman K, Tang Y, et al. Variants within MECP2, a key transcription regulator, are associated with increased susceptibility to lupus and differential gene expression in patients with systemic lupus erythematosus. Arthritis Rheum. 2009;60:1076-84 pubmed publisher
    ..The aim of this study was to examine methyl-CpG-binding protein 2 gene (MECP2) polymorphisms in a large cohort of patients with lupus and control subjects, and to determine the functional ..
  18. Ravn K, Nielsen J, Schwartz M. Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome. Clin Genet. 2005;67:532-3 pubmed
  19. Koch C, Strätling W. DNA binding of methyl-CpG-binding protein MeCP2 in human MCF7 cells. Biochemistry. 2004;43:5011-21 pubmed
    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...
  20. Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P. A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet. 2001;108:43-50 pubmed
    Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) have been found to be a cause of Rett syndrome (RTT)...
  21. Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R. MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Hum Mol Genet. 2005;14:1049-58 pubmed
    ..a severe and progressive neurodevelopmental disorder caused by heterozygous mutations in the X-linked methyl CpG binding protein 2 (MeCP2) gene...
  22. Muller H, Fiegl H, Goebel G, Hubalek M, Widschwendter A, Muller Holzner E, et al. MeCP2 and MBD2 expression in human neoplastic and non-neoplastic breast tissue and its association with oestrogen receptor status. Br J Cancer. 2003;89:1934-9 pubmed
    This study analysed mRNA expression of two members of the methyl-CpG-binding protein family - MeCP2 and MBD2 - in human non-neoplastic (n=11) and neoplastic (n=57) breast tissue specimens using a quantitative real-time PCR method...
  23. Ravn K, Nielsen J, Skjeldal O, Kerr A, Hulten M, Schwartz M. Large genomic rearrangements in MECP2. Hum Mutat. 2005;25:324 pubmed
    In 1999, mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) were first reported in patients with Rett syndrome (RTT). The MECP2 gene is located at Xq28 and consists of 4 exons...
  24. Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, Leonard H. Sleep problems in Rett syndrome. Brain Dev. 2007;29:609-16 pubmed
    ..It is generally caused by mutations in the MECP2 gene...
  25. Campos M, Churchman S, Santos Rebouças C, Ponchel F, Pimentel M. High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation. J Mol Neurosci. 2010;41:105-9 pubmed publisher
    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...
  26. Reichwald K, Thiesen J, Wiehe T, Weitzel J, Poustka W, Rosenthal A, et al. Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions. Mamm Genome. 2000;11:182-90 pubmed
    ..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 ..
  27. Yang C, van der Woerd M, Muthurajan U, Hansen J, Luger K. Biophysical analysis and small-angle X-ray scattering-derived structures of MeCP2-nucleosome complexes. Nucleic Acids Res. 2011;39:4122-35 pubmed publisher
    b>MeCP2 is a highly abundant chromatin architectural protein with key roles in post-natal brain development in humans. Mutations in MeCP2 are associated with Rett syndrome, the main cause of mental retardation in girls...
  28. Hu B, Gharaee Kermani M, Wu Z, Phan S. Essential role of MeCP2 in the regulation of myofibroblast differentiation during pulmonary fibrosis. Am J Pathol. 2011;178:1500-8 pubmed publisher
    ..Using gel shift and chromatin immunoprecipitation (ChIP) assays, methyl CpG binding protein 2 (MeCP2) was shown to bind to the ?-SMA gene...
  29. Peddada S, Yasui D, LaSalle J. Inhibitors of differentiation (ID1, ID2, ID3 and ID4) genes are neuronal targets of MeCP2 that are elevated in Rett syndrome. Hum Mol Genet. 2006;15:2003-14 pubmed
    Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2...
  30. Balmer D, Goldstine J, Rao Y, LaSalle J. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. J Mol Med (Berl). 2003;81:61-8 pubmed
    Rett syndrome is caused by mutations in MECP2 and characterized by arrested postnatal neurodevelopment...
  31. Fuks F, Hurd P, Wolf D, Nan X, Bird A, Kouzarides T. The methyl-CpG-binding protein MeCP2 links DNA methylation to histone methylation. J Biol Chem. 2003;278:4035-40 pubmed
    ..The recruitment of MeCP2 to methylated CpG dinucleotides represents a major mechanism by which DNA methylation can repress transcription...
  32. Thatcher K, Peddada S, Yasui D, LaSalle J. Homologous pairing of 15q11-13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples. Hum Mol Genet. 2005;14:785-97 pubmed
    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...
  33. Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, et al. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology. 2008;70:868-75 pubmed publisher
    ..cause was first reported in 1999 when the association with mutations in the methyl-CpG-binding protein 2 (or MECP2) gene was identified...
  34. Neul J. The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues Clin Neurosci. 2012;14:253-62 pubmed
    ..The majority of people with RTT have mutations in Methyl-CpG-binding Protein 2 (MECP2), a transcriptional regulator...
  35. Kokura K, Kaul S, Wadhwa R, Nomura T, Khan M, Shinagawa T, et al. The Ski protein family is required for MeCP2-mediated transcriptional repression. J Biol Chem. 2001;276:34115-21 pubmed
    ..b>MeCP2 is the founder member of a family of methyl-CpG-binding proteins...
  36. Abuhatzira L, Makedonski K, Kaufman Y, Razin A, Shemer R. MeCP2 deficiency in the brain decreases BDNF levels by REST/CoREST-mediated repression and increases TRKB production. Epigenetics. 2007;2:214-22 pubmed
    ..Rett syndrome (RTT) is a neurodevelopmental disorder, caused by mutations in the X-linked methyl CpG binding protein 2 gene (MeCP2)...
  37. Goffin D, Allen M, Zhang L, Amorim M, Wang I, Reyes A, et al. Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. Nat Neurosci. 2011;15:274-83 pubmed publisher
    Mutations in the MECP2 gene cause the autism spectrum disorder Rett syndrome (RTT). One of the most common MeCP2 mutations associated with RTT occurs at threonine 158, converting it to methionine (T158M) or alanine (T158A)...
  38. Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, et al. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet. 2010;47:242-8 pubmed publisher
    ..aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations and to examine the phenotypic variation within C-terminal deletions...
  39. Harikrishnan K, Chow M, Baker E, Pal S, Bassal S, Brasacchio D, et al. Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing. Nat Genet. 2005;37:254-64 pubmed
    Transcriptional repression of methylated genes can be mediated by the methyl-CpG binding protein MeCP2. Here we show that human Brahma (Brm), a catalytic component of the SWI/SNF-related chromatin-remodeling complex, associates with ..
  40. Francke U. Mechanisms of disease: neurogenetics of MeCP2 deficiency. Nat Clin Pract Neurol. 2006;2:212-21 pubmed
    ..RTT is caused by heterozygosity for mutations in the X-linked gene MECP2, which encodes methyl-CpG binding protein 2...
  41. Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, et al. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet. 2001;10:941-6 pubmed
    ..Two novel mutations, not found in RTT, were identified. The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28...
  42. Shahbazian M, Antalffy B, Armstrong D, Zoghbi H. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet. 2002;11:115-24 pubmed
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene...
  43. Collins A, Levenson J, Vilaythong A, Richman R, Armstrong D, Noebels J, et al. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004;13:2679-89 pubmed
    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...
  44. Delepine C, Nectoux J, Bahi Buisson N, Chelly J, Bienvenu T. MeCP2 deficiency is associated with impaired microtubule stability. FEBS Lett. 2013;587:245-53 pubmed publisher
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by MECP2 mutations. Previous studies performed on Mecp2-deficient brain showed striking changes in neuronal maturation...
  45. Orrico A, Lam C, Galli L, Dotti M, Hayek G, Tong S, et al. MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett. 2000;481:285-8 pubmed
    ..We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental retardation...
  46. Villard L, Levy N, Xiang F, Kpebe A, Labelle V, Chevillard C, et al. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. J Med Genet. 2001;38:435-42 pubmed
    ..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...
  47. Squillaro T, Alessio N, Cipollaro M, Renieri A, Giordano A, Galderisi U. Partial silencing of methyl cytosine protein binding 2 (MECP2) in mesenchymal stem cells induces senescence with an increase in damaged DNA. FASEB J. 2010;24:1593-603 pubmed publisher
    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...
  48. Han K, Gennarino V, Lee Y, Pang K, Hashimoto Torii K, Choufani S, et al. Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p. Genes Dev. 2013;27:485-90 pubmed publisher
    ..function in humans requires precise control of levels of the epigenetic regulator methyl CpG-binding protein 2 (MeCP2)...
  49. Laccone F, Jünemann I, Whatley S, Morgan R, Butler R, Huppke P, et al. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Hum Mutat. 2004;23:234-44 pubmed
    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...
  50. Bienvenu T, Chelly J. Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. Nat Rev Genet. 2006;7:415-26 pubmed
    The discovery that Rett syndrome is caused by mutations that affect the methyl-CpG-binding protein MeCP2 provided a major breakthrough in understanding this severe neurodevelopmental disorder...
  51. Beyer K, Blasi F, Bacchelli E, Klauck S, Maestrini E, Poustka A. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Hum Genet. 2002;111:305-9 pubmed
    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...
  52. Aber K, Nori P, MacDonald S, Bibat G, Jarrar M, Kaufmann W. Methyl-CpG-binding protein 2 is localized in the postsynaptic compartment: an immunochemical study of subcellular fractions. Neuroscience. 2003;116:77-80 pubmed
    ..In conjunction with Sin3, MeCP2 recruits class I histone deacetylases to methyl-CpG regions to suppress transcription...
  53. Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, et al. MECP2 deletions and genotype-phenotype correlation in Rett syndrome. Am J Med Genet A. 2007;143A:2775-84 pubmed
    ..b>MECP2 point mutations in exons 2-4 account for about 80% of classic Rett cases and for a lower percentage of variant ..
  54. Yu F, Zingler N, Schumann G, Strätling W. Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription. Nucleic Acids Res. 2001;29:4493-501 pubmed
    ..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...
  55. Martinowich K, Hattori D, Wu H, Fouse S, He F, Hu Y, et al. DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science. 2003;302:890-3 pubmed
    ..Changes in DNA methylation perturb neuronal function, and mutations in a methyl-CpG-binding protein, MeCP2, are associated with Rett syndrome...
  56. Friez M, Jones J, Clarkson K, Lubs H, Abuelo D, Bier J, et al. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics. 2006;118:e1687-95 pubmed
    ..hypotonia, recurrent respiratory infection, and microduplication of Xq28 that consistently includes the MECP2 (methyl-CpG binding protein 2) gene...
  57. Samaco R, Mandel Brehm C, Chao H, Ward C, Fyffe Maricich S, Ren J, et al. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A. 2009;106:21966-71 pubmed publisher
    ..We found that both individuals with RTT and Mecp2-null mice have lower-than-normal levels of aminergic metabolites and content...
  58. Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, et al. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. Eur J Hum Genet. 2011;19:507-12 pubmed publisher
    Xq28 duplications including MECP2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor speech and recurrent infections that often lead to early death...
  59. Gianakopoulos P, Zhang Y, Pencea N, Orlic Milacic M, Mittal K, Windpassinger C, et al. Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. Am J Med Genet B Neuropsychiatr Genet. 2012;159B:210-6 pubmed publisher
    The overwhelming majority of Rett syndrome cases are caused by mutations in the gene MECP2. MECP2 has two isoforms, termed MECP2_e1 and MECP2_e2, which differ in their N-terminal amino acid sequences...
  60. Zhao Y, Goffin D, Johnson B, Zhou Z. Loss of MeCP2 function is associated with distinct gene expression changes in the striatum. Neurobiol Dis. 2013;59:257-66 pubmed publisher
    ..RTT is caused by mutations in the gene encoding MeCP2, a methyl-CpG binding protein believed to modulate gene transcription...
  61. Armstrong J, Pineda M, Aibar E, Gean E, Monros E. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol. 2001;50:692 pubmed
  62. Nagarajan R, HOGART A, Gwye Y, Martin M, LaSalle J. Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics. 2006;1:e1-11 pubmed
    Mutations in MECP2, encoding methyl CpG binding protein 2 (MeCP2), cause most cases of Rett syndrome (RTT), an X-linked neurodevelopmental disorder...
  63. Chapleau C, Calfa G, Lane M, Albertson A, Larimore J, Kudo S, et al. Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations. Neurobiol Dis. 2009;35:219-33 pubmed publisher
    ..The majority of RTT individuals carry mutations in MECP2, the gene coding for a methylated DNA-binding transcriptional regulator...
  64. Xi C, Lu Y, Tan Y, Hua T, Zhao Y, Liu X, et al. Analysis of MECP2 gene copy number in boys with autism. J Child Neurol. 2011;26:570-3 pubmed publisher
    Autism is a severe neurodevelopmental disorder with a strong genetic basis.The methyl-CpG binding protein 2 gene (MECP2) is a dosage-sensitive gene in brain development and has been implicated as a candidate gene for autism...
  65. Motil K, Caeg E, Barrish J, Geerts S, Lane J, Percy A, et al. Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr. 2012;55:292-8 pubmed publisher
    ..based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2 (MECP2) gene status...
  66. Kriaucionis S, Bird A. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res. 2004;32:1818-23 pubmed
    b>MeCP2 is a methyl-CpG binding protein that can repress transcription of nearby genes. In humans, mutations in the MECP2 gene are the major cause of Rett syndrome...
  67. Mnatzakanian G, Lohi H, Munteanu I, Alfred S, Yamada T, MacLeod P, et al. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet. 2004;36:339-41 pubmed
    Rett syndrome is caused by mutations in the gene MECP2 in approximately 80% of affected individuals. We describe a previously unknown MeCP2 isoform...
  68. Archer H, Whatley S, Evans J, Ravine D, Huppke P, Kerr A, et al. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet. 2006;43:451-6 pubmed
    b>MECP2 mutations are identifiable in approximately 80% of classic Rett syndrome (RTT), but less frequently in atypical RTT...
  69. Wischnewski F, Friese O, Pantel K, Schwarzenbach H. Methyl-CpG binding domain proteins and their involvement in the regulation of the MAGE-A1, MAGE-A2, MAGE-A3, and MAGE-A12 gene promoters. Mol Cancer Res. 2007;5:749-59 pubmed
    ..methylation-dependent repression, we examined the involvement of methyl-CpG binding proteins, MBD1, MBD2a, and MeCP2, in silencing of MAGE-A1, MAGE-A2, MAGE-A3, and MAGE-A12 genes...
  70. Nikitina T, Ghosh R, Horowitz Scherer R, Hansen J, Grigoryev S, Woodcock C. MeCP2-chromatin interactions include the formation of chromatosome-like structures and are altered in mutations causing Rett syndrome. J Biol Chem. 2007;282:28237-45 pubmed
    ..The present work focuses on the modifications of chromatin architecture induced by MeCP2 and the effects of RTT-causing mutants...
  71. Zachariah R, Rastegar M. Linking epigenetics to human disease and Rett syndrome: the emerging novel and challenging concepts in MeCP2 research. Neural Plast. 2012;2012:415825 pubmed publisher
    ..A well-known link between epigenetics and human disease is the X-linked MECP2 gene, mutations in which lead to the neurological disorder, Rett Syndrome...
  72. Mellén M, Ayata P, Dewell S, Kriaucionis S, Heintz N. MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system. Cell. 2012;151:1417-30 pubmed publisher
    ..We identify methyl-CpG-binding protein 2 (MeCP2) as the major 5hmC-binding protein in the brain and demonstrate that MeCP2 binds 5hmC- and 5mC-containing DNA with ..
  73. Lyst M, Ekiert R, Ebert D, Merusi C, Nowak J, Selfridge J, et al. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nat Neurosci. 2013;16:898-902 pubmed publisher
    Rett syndrome (RTT) is a severe neurological disorder that is caused by mutations in the MECP2 gene...
  74. Clayton Smith J, Watson P, Ramsden S, Black G. Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet. 2000;356:830-2 pubmed
    ..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...
  75. Hoffbuhr K, Devaney J, LaFleur B, Sirianni N, Scacheri C, Giron J, et al. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology. 2001;56:1486-95 pubmed
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 (MeCP2) gene...
  76. Kaludov N, Wolffe A. MeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery. Nucleic Acids Res. 2000;28:1921-8 pubmed
    The pathways for selective transcriptional repression of methylated DNA templates by the methyl-CpG-binding protein MeCP2 have been investigated using a purified in vitro transcription system that does not assemble chromatin...
  77. Carney R, Wolpert C, Ravan S, Shahbazian M, Ashley Koch A, Cuccaro M, et al. Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol. 2003;28:205-11 pubmed
    ..indicate that at least 80% of Rett Disorder cases are caused by mutations in the methyl-CpG-binding protein 2 (MeCP2) gene...
  78. Horska A, Farage L, Bibat G, Nagae L, Kaufmann W, Barker P, et al. Brain metabolism in Rett syndrome: age, clinical, and genotype correlations. Ann Neurol. 2009;65:90-7 pubmed publisher
    ..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...
  79. Maezawa I, Swanberg S, Harvey D, LaSalle J, Jin L. Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. J Neurosci. 2009;29:5051-61 pubmed publisher
    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...
  80. Qiu Z, Sylwestrak E, Lieberman D, Zhang Y, Liu X, Ghosh A. The Rett syndrome protein MeCP2 regulates synaptic scaling. J Neurosci. 2012;32:989-94 pubmed publisher
    ..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...
  81. Schanen C, Houwink E, Dorrani N, Lane J, Everett R, Feng A, et al. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet A. 2004;126A:129-40 pubmed
    Since the identification of mutations in MECP2 in girls and women with apparent Rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations...
  82. Coutinho A, Oliveira G, Katz C, Feng J, Yan J, Yang C, et al. MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:475-83 pubmed
    Mutations in the coding sequence of the methyl-CpG-binding protein 2 gene (MECP2), which cause Rett syndrome (RTT), have been found in male and female autistic subjects without, however, a causal relation having unequivocally been ..
  83. Carvalho C, Zhang F, Liu P, Patel A, Sahoo T, Bacino C, et al. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009;18:2188-203 pubmed publisher
    Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males...
  84. Ghosh R, Nikitina T, Horowitz Scherer R, Gierasch L, Uversky V, Hite K, et al. Unique physical properties and interactions of the domains of methylated DNA binding protein 2. Biochemistry. 2010;49:4395-410 pubmed publisher
    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...
  85. De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, et al. Preserved speech variant is allelic of classic Rett syndrome. Eur J Hum Genet. 2000;8:325-30 pubmed
    ..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...
  86. Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, et al. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet. 2005;42:e12 pubmed
  87. Ventura P, Galluzzi R, Bacca S, Giorda R, Massagli A. A novel familial MECP2 mutation in a young boy: clinical and molecular findings. Neurology. 2006;67:867-8 pubmed
    ..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...
  88. Agarwal N, Hardt T, Brero A, Nowak D, Rothbauer U, Becker A, et al. MeCP2 interacts with HP1 and modulates its heterochromatin association during myogenic differentiation. Nucleic Acids Res. 2007;35:5402-8 pubmed
    ..In particular, HP1gamma relocalization to heterochromatin correlated with MeCP2 presence...
  89. Saunders C, Minassian B, Chow E, Zhao W, Vincent J. Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. Am J Med Genet A. 2009;149A:1019-23 pubmed publisher
    Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene...
  90. Leoh L, van Heertum B, De Rijck J, Filippova M, Ríos Colón L, Basu A, et al. The stress oncoprotein LEDGF/p75 interacts with the methyl CpG binding protein MeCP2 and influences its transcriptional activity. Mol Cancer Res. 2012;10:378-91 pubmed publisher
    ..We report here that both LEDGF/p75 and its short splice variant LEDGF/p52 interact with MeCP2, a methylation-associated transcriptional modulator, in vitro and in various human cancer cells...
  91. Bienvenu T, Carrie A, de Roux N, Vinet M, Jonveaux P, Couvert P, et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet. 2000;9:1377-84 pubmed
    ..The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy...
  92. Xinhua Bao -, Shengling Jiang -, Fuying Song -, Hong Pan -, Meirong Li -, Wu X. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype. J Child Neurol. 2008;23:22-5 pubmed publisher
    ..dominant neurodevelopment disorder, which is mainly caused by gene mutation of methyl-CpG-binding protein 2 (MECP2)...