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. 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...
  2. 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...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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)...
  8. 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)...
  9. 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 ..

More Information

Publications117 found, 100 shown here

  1. 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...
  2. 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...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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)...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. 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 ..
  13. 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...
  14. 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...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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...
  20. 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
  21. 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...
  22. 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...
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. 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...
  28. 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...
  29. 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...
  30. 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...
  31. 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 ..
  32. 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...
  33. 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...
  34. 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...
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. 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...
  40. 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...
  41. 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 ..
  42. 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...
  43. 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...
  44. 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...
  45. 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
  46. 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...
  47. 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...
  48. 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...
  49. 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...
  50. 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...
  51. 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)...
  52. Swanberg S, Nagarajan R, Peddada S, Yasui D, LaSalle J. Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism. Hum Mol Genet. 2009;18:525-34 pubmed publisher
    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...
  53. Joyner A, J C, Bloss C, Bakken T, Rimol L, Melle I, et al. A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations. Proc Natl Acad Sci U S A. 2009;106:15483-8 pubmed publisher
    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...
  54. Cheadle J, Gill H, Fleming N, Maynard J, Kerr A, Leonard H, et al. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet. 2000;9:1119-29 pubmed
    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...
  55. Guarda A, Bolognese F, Bonapace I, Badaracco G. Interaction between the inner nuclear membrane lamin B receptor and the heterochromatic methyl binding protein, MeCP2. Exp Cell Res. 2009;315:1895-903 pubmed publisher
    ..The Methyl-CpG binding protein MeCP2 binds methyl-CpG dinucleotides in the mammalian genome and functions as a transcriptional repressor in vivo by ..
  56. Honda S, Satomura S, Hayashi S, Imoto I, Nakagawa E, Goto Y, et al. Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation. J Hum Genet. 2012;57:73-7 pubmed publisher
    ..Here we report a family with concomitant duplications of methyl CpG binding protein 2 (MECP2) at Xq28 and ATRX (the causative gene for X-linked alpha thalassemia/mental retardation) at Xq21...
  57. Castro J, Mellios N, Sur M. Mechanisms and therapeutic challenges in autism spectrum disorders: insights from Rett syndrome. Curr Opin Neurol. 2013;26:154-9 pubmed publisher
    ..Rett syndrome is caused by mutations in the gene coding for methyl CpG-binding protein 2 (MeCP2)...
  58. Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, et al. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet. 2001;38:224-8 pubmed
    ..Mutations within the X linked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects ..
  59. Schule B, Li H, Fisch Kohl C, Purmann C, Francke U. DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiency. Am J Hum Genet. 2007;81:492-506 pubmed
    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...
  60. Yasui D, Peddada S, Bieda M, Vallero R, Hogart A, Nagarajan R, et al. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci U S A. 2007;104:19416-21 pubmed
    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...
  61. Na E, Nelson E, Kavalali E, Monteggia L. The impact of MeCP2 loss- or gain-of-function on synaptic plasticity. Neuropsychopharmacology. 2013;38:212-9 pubmed publisher
    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...
  62. Nikitina T, Shi X, Ghosh R, Horowitz Scherer R, Hansen J, Woodcock C. Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin. Mol Cell Biol. 2007;27:864-77 pubmed
    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 ..
  63. Villard L. MECP2 mutations in males. J Med Genet. 2007;44:417-23 pubmed
    ..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...
  64. Ramocki M, Tavyev Y, Peters S. The MECP2 duplication syndrome. Am J Med Genet A. 2010;152A:1079-88 pubmed publisher
    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...
  65. Cheung A, Horvath L, Grafodatskaya D, Pasceri P, Weksberg R, Hotta A, et al. Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet. 2011;20:2103-15 pubmed publisher
    ..spectrum disorder that affects girls due primarily to mutations in the gene encoding methyl-CpG binding protein 2 (MECP2)...
  66. Squillaro T, Alessio N, Cipollaro M, Melone M, Hayek G, Renieri A, et al. Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence: new perspective for Rett syndrome. Mol Biol Cell. 2012;23:1435-45 pubmed publisher
    b>MECP2 protein binds preferentially to methylated CpGs and regulates gene expression by causing changes in chromatin structure...
  67. Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, et al. MECP2 duplication syndrome in both genders. Brain Dev. 2013;35:411-9 pubmed publisher
    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 ..
  68. Kimura H, Shiota K. Methyl-CpG-binding protein, MeCP2, is a target molecule for maintenance DNA methyltransferase, Dnmt1. J Biol Chem. 2003;278:4806-12 pubmed
    ..Here we show that the methyl-CpG binding protein, MeCP2, interacts directly with the maintenance DNA methyltransferase, Dnmt1...
  69. Neul J, Fang P, Barrish J, Lane J, Caeg E, Smith E, et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008;70:1313-21 pubmed publisher
    ..clinical features of Rett syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in MECP2. Cross-sectional study of 245 girls and women with typical Rett syndrome seen between 1990 and 2004 in tertiary ..
  70. Loat C, Curran S, Lewis C, Duvall J, Geschwind D, Bolton P, et al. Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism. Genes Brain Behav. 2008;7:754-60 pubmed publisher
    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...
  71. Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel B, van Bokhoven H, et al. Neurologic aspects of MECP2 gene duplication in male patients. Pediatr Neurol. 2009;41:187-91 pubmed publisher
    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, ..
  72. Ramocki M, Peters S, Tavyev Y, Zhang F, Carvalho C, Schaaf C, et al. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann Neurol. 2009;66:771-82 pubmed publisher
    There have been no objective assessments to determine whether boys with MECP2 duplication have autism or whether female carriers manifest phenotypes...
  73. Winnepenninckx B, Errijgers V, Hayez Delatte F, Reyniers E, Frank Kooy R. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?. Hum Mutat. 2002;20:249-52 pubmed
    ..We mapped a new non-syndromic X-linked family (MRX79) to the chromosomal region Xq27...
  74. Lobo Menendez F, Sossey Alaoui K, Bell J, Copeland Yates S, Plank S, Sanford S, et al. Absence of MeCP2 mutations in patients from the South Carolina autism project. Am J Med Genet B Neuropsychiatr Genet. 2003;117B:97-101 pubmed
    The methyl-CpG binding protein 2 (MeCP2) gene has recently been identified as the gene responsible for Rett syndrome (RS), a pervasive developmental disorder considered by many to be one of the autism spectrum disorders...
  75. Weaving L, Ellaway C, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet. 2005;42:1-7 pubmed
    ..It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the ..
  76. Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, et al. 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. J Med Genet. 2007;44:148-52 pubmed
    ..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...
  77. Nan X, Hou J, Maclean A, Nasir J, Lafuente M, Shu X, et al. Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proc Natl Acad Sci U S A. 2007;104:2709-14 pubmed
    Mutations in the human methyl-CpG-binding protein gene MECP2 cause the neurological disorder Rett syndrome and some cases of X-linked mental retardation (XLMR)...
  78. Psoni S, Sofocleous C, Traeger Synodinos J, Kitsiou Tzeli S, Kanavakis E, Fryssira Kanioura H. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion. Pediatr Res. 2010;67:551-6 pubmed publisher
    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...
  79. Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, et al. Study of MECP2 gene in Rett syndrome variants and autistic girls. Am J Med Genet B Neuropsychiatr Genet. 2003;119B:102-7 pubmed
    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 ..
  80. del Gaudio D, Fang P, Scaglia F, Ward P, Craigen W, Glaze D, et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006;8:784-92 pubmed
    Mutations in the MECP2 gene are associated with Rett syndrome, an X-linked mental retardation disorder in females. Mutations also cause variable neurodevelopmental phenotypes in rare affected males...
  81. Deng V, Matagne V, Banine F, Frerking M, Ohliger P, Budden S, et al. FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice. Hum Mol Genet. 2007;16:640-50 pubmed
    Rett syndrome (RTT) is an X-linked neurodevelopmental disorder linked to heterozygous de novo mutations in the MECP2 gene...
  82. Zhu X, Li M, Pan H, Bao X, Zhang J, Wu X. Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China. J Child Neurol. 2010;25:842-8 pubmed publisher
    ..The relationship between X-chromosome inactivation and phenotype may need more cases to explore...
  83. Baker S, Chen L, Wilkins A, Yu P, Lichtarge O, Zoghbi H. An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell. 2013;152:984-96 pubmed publisher
    Mutations in the X-linked MECP2 cause Rett syndrome, a devastating neurological disorder typified by a period of apparently normal development followed by loss of cognitive and psychomotor skills...
  84. Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Hammer S, et al. Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation. J Med Genet. 2002;39:132-6 pubmed
  85. Geerdink N, Rotteveel J, Lammens M, Sistermans E, Heikens G, Gabreëls F, et al. MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics. 2002;33:33-6 pubmed
    We describe the clinical and neuropathological presentation of a male with an MECP2 mutation whose sister has Rett syndrome (RS). He presented with severe neonatal encephalopathy and died at the age of 13 months...
  86. Harvey C, Menon S, Stachowiak B, Noor A, Proctor A, Mensah A, et al. Sequence variants within exon 1 of MECP2 occur in females with mental retardation. Am J Med Genet B Neuropsychiatr Genet. 2007;144B:355-60 pubmed
    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...
  87. Muotri A, Marchetto M, Coufal N, Oefner R, Yeo G, Nakashima K, et al. L1 retrotransposition in neurons is modulated by MeCP2. Nature. 2010;468:443-6 pubmed publisher
    ..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...