Mecp2

Summary

Gene Symbol: Mecp2
Description: methyl CpG binding protein 2
Alias: 1500041B07Rik, D630021H01Rik, Mbd5, WBP10, methyl-CpG-binding protein 2, meCp-2 protein
Species: mouse
Products:     Mecp2

Top Publications

  1. 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...
  2. 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 ..
  3. Bissonnette J, Knopp S, Maylie J, Thong T. Autonomic cardiovascular control in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Auton Neurosci. 2007;136:82-9 pubmed
    ..step in understanding the basis for these abnormalities we have characterized autonomic cardiovascular function in Mecp2 deficient mice. Arterial pressure waves were recorded in freely moving animals using telemetry...
  4. Samaco R, Fryer J, Ren J, Fyffe S, Chao H, Sun Y, et al. A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet. 2008;17:1718-27 pubmed publisher
    ..by regression of language and hand use, is primarily caused by mutations in methyl-CpG-binding protein 2 (MECP2)...
  5. Kerr B, Alvarez Saavedra M, Sáez M, Saona A, Young J. Defective body-weight regulation, motor control and abnormal social interactions in Mecp2 hypomorphic mice. Hum Mol Genet. 2008;17:1707-17 pubmed publisher
    b>MeCP2 is an abundant protein that binds to methylated cytosine residues in DNA and regulates transcription. Mutations in MECP2 cause Rett syndrome, a severe neurological disorder that affects approximately 1:10 000 females...
  6. Quaderi N, Meehan R, Tate P, Cross S, Bird A, Chatterjee A, et al. Genetic and physical mapping of a gene encoding a methyl CpG binding protein, Mecp2, to the mouse X chromosome. Genomics. 1994;22:648-51 pubmed
    The methyl CpG binding proteins (MeCP1 and MeCP2) are a class of proteins that bind to templates containing symmetrically methylated CpGs...
  7. Roux J, Dura E, Villard L. Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse. Neurosci Lett. 2008;447:82-6 pubmed publisher
    Mutations in the gene encoding the transcriptional methyl-CpG binding protein 2 (Mecp2) cause a wide range of neurological disorders and the better known of these diseases is Rett syndrome (RS)...
  8. Hwang C, Song K, Kim C, Choi H, Guo X, Law P, et al. Epigenetic programming of mu-opioid receptor gene in mouse brain is regulated by MeCP2 and Brg1 chromatin remodelling factor. J Cell Mol Med. 2009;13:3591-615 pubmed publisher
    ..Increases in the in vivo interaction of methyl-CpG-binding protein 2 (MeCP2) were observed in the cerebellum, in which the MOR promoter was hypermethylated and MOR expression was the lowest ..
  9. Wu H, Tao J, Chen P, Shahab A, Ge W, Hart R, et al. Genome-wide analysis reveals methyl-CpG-binding protein 2-dependent regulation of microRNAs in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2010;107:18161-6 pubmed publisher
    ..a progressive neurodevelopmental disorder caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2)...

More Information

Publications96

  1. Young J, Hong E, Castle J, Crespo Barreto J, Bowman A, Rose M, et al. Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A. 2005;102:17551-8 pubmed
    ..RTT is caused by mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2)...
  2. Wang H, Chan S, Ogier M, Hellard D, Wang Q, Smith C, et al. Dysregulation of brain-derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice. J Neurosci. 2006;26:10911-5 pubmed
    ..RTT), a severe neurological disorder caused by loss-of-function mutations in methyl-CpG-binding protein-2 (MeCP2)...
  3. 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 ..
  4. Santos M, Summavielle T, Teixeira Castro A, Silva Fernandes A, Duarte Silva S, Marques F, et al. Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome. Neuroscience. 2010;170:453-67 pubmed publisher
    Rett syndrome is a neurodevelopmental disorder caused by mutations in the methyl-CpG binding protein 2 gene (MECP2)...
  5. Buchovecky C, Turley S, Brown H, Kyle S, McDonald J, Liu B, et al. A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome. Nat Genet. 2013;45:1013-20 pubmed publisher
    Mutations in MECP2, encoding methyl CpG-binding protein 2, cause Rett syndrome, the most severe autism spectrum disorder...
  6. 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...
  7. Chapleau C, Boggio E, Calfa G, Percy A, Giustetto M, Pozzo Miller L. Hippocampal CA1 pyramidal neurons of Mecp2 mutant mice show a dendritic spine phenotype only in the presymptomatic stage. Neural Plast. 2012;2012:976164 pubmed publisher
    ..RTT, an X chromosome-linked disorder associated with mutations in MECP2, is the leading cause of intellectual disabilities in women...
  8. Skene P, Illingworth R, Webb S, Kerr A, James K, Turner D, et al. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol Cell. 2010;37:457-68 pubmed publisher
    b>MeCP2 is a nuclear protein with an affinity for methylated DNA that can recruit histone deacetylases...
  9. Nectoux J, Florian C, Delepine C, Bahi Buisson N, Khelfaoui M, Reibel S, et al. Altered microtubule dynamics in Mecp2-deficient astrocytes. J Neurosci Res. 2012;90:990-8 pubmed publisher
    Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by mutations in the gene MECP2 encoding the methyl-CpG binding protein 2...
  10. Pratte M, Panayotis N, Ghata A, Villard L, Roux J. Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice. Behav Brain Res. 2011;216:313-20 pubmed publisher
    The methyl-CpG binding protein 2 (Mecp2) gene encodes a nuclear transcriptional modulator highly expressed in post-mitotic neurons. Mutations of this gene cause a large spectrum of neurological disorders in humans...
  11. Cohen S, Gabel H, Hemberg M, Hutchinson A, Sadacca L, Ebert D, et al. Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function. Neuron. 2011;72:72-85 pubmed publisher
    ..RTT is caused by mutations in MECP2, a nuclear protein that becomes phosphorylated at S421 in response to neuronal activation...
  12. Voituron N, Zanella S, Menuet C, Dutschmann M, Hilaire G. Early breathing defects after moderate hypoxia or hypercapnia in a mouse model of Rett syndrome. Respir Physiol Neurobiol. 2009;168:109-18 pubmed publisher
    ..rare neurodevelopmental disease caused by mutations in the transcriptional repressor methyl-CpG-binding protein 2 (MeCP2) and accompanied by complex symptoms, including erratic breathing and life-threatening apnoeas...
  13. 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...
  14. Gadalla K, Bailey M, Spike R, Ross P, Woodard K, Kalburgi S, et al. Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice. Mol Ther. 2013;21:18-30 pubmed publisher
    ..syndrome (RTT) is a pediatric disorder caused by loss-of-function mutations in the methyl-CpG binding protein 2 (MECP2) gene...
  15. 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...
  16. Schmid D, Yang T, Ogier M, Adams I, Mirakhur Y, Wang Q, et al. A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome. J Neurosci. 2012;32:1803-10 pubmed publisher
    Rett syndrome (RTT) results from loss-of-function mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2) and is characterized by abnormal motor, respiratory and autonomic control, cognitive impairment, autistic-like ..
  17. Jentarra G, Olfers S, Rice S, Srivastava N, Homanics G, Blue M, et al. Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. BMC Neurosci. 2010;11:19 pubmed publisher
    Rett syndrome (RTT), a common cause of mental retardation in girls, is associated with mutations in the MECP2 gene. Most human cases of MECP2 mutation in girls result in classical or variant forms of RTT...
  18. 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)...
  19. Viola A, Saywell V, Villard L, Cozzone P, Lutz N. Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model. PLoS ONE. 2007;2:e157 pubmed
    ..Since RS is mostly caused by mutations in the MECP2 gene, transgenic animal models such as the Mecp2-deleted ("Mecp2-null") mouse have been employed to ..
  20. Roux J, Panayotis N, Dura E, Villard L. Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice. J Neurosci Res. 2010;88:1500-9 pubmed publisher
    Methyl-CpG binding protein 2 (MeCP2) is a transcriptional regulator. Mutations in this gene cause a wide range of neurological disorders...
  21. Stuss D, Boyd J, Levin D, Delaney K. MeCP2 mutation results in compartment-specific reductions in dendritic branching and spine density in layer 5 motor cortical neurons of YFP-H mice. PLoS ONE. 2012;7:e31896 pubmed publisher
    Rett Syndrome (RTT) is a neurodevelopmental disorder predominantly caused by mutations in the X-linked gene MECP2. A primary feature of the syndrome is the impaired maturation and maintenance of excitatory synapses in the central nervous ..
  22. Fukuda T, Itoh M, Ichikawa T, Washiyama K, Goto Y. Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of Mecp2-deficient mice. J Neuropathol Exp Neurol. 2005;64:537-44 pubmed
    We detected morphologic abnormalities in the cerebral cortex of Mecp2-hemizygous (Mecp2(-/y)) mice...
  23. Calfa G, Percy A, Pozzo Miller L. Experimental models of Rett syndrome based on Mecp2 dysfunction. Exp Biol Med (Maywood). 2011;236:3-19 pubmed publisher
    ..predominantly occurring in females with an incidence of 1:10,000 births and caused by sporadic mutations in the MECP2 gene, which encodes methyl-CpG-binding protein-2, an epigenetic transcription factor that binds methylated DNA...
  24. Bodda C, Tantra M, Mollajew R, Arunachalam J, Laccone F, Can K, et al. Mild overexpression of Mecp2 in mice causes a higher susceptibility toward seizures. Am J Pathol. 2013;183:195-210 pubmed publisher
    An intriguing finding about the gene encoding methyl-CpG binding protein 2 (MeCP2) is that the loss-of-function mutations cause Rett syndrome and duplication (gain-of-function) of MECP2 leads to another neurological disorder termed MECP2 ..
  25. 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...
  26. Jugloff D, Logan R, Eubanks J. Breeding and maintenance of an Mecp2-deficient mouse model of Rett syndrome. J Neurosci Methods. 2006;154:89-95 pubmed
    In this report, we present a retrospective assessment of our experiences in maintaining a colony of Mecp2-deficient mice, and present conditions that we have found to foster breeding success of this mutant mouse strain...
  27. 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...
  28. Stearns N, Schaevitz L, Bowling H, Nag N, Berger U, Berger Sweeney J. Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome. Neuroscience. 2007;146:907-21 pubmed
    Over 90% of Rett syndrome (RTT) cases have a mutation in the X-linked gene encoding methyl CpG binding-protein 2 (MeCP2)...
  29. Guy J, Hendrich B, Holmes M, Martin J, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet. 2001;27:322-6 pubmed
    ..Most RTT patients are heterozygous for mutations in the X-linked gene MECP2 (refs. 3-12), encoding a protein that binds to methylated sites in genomic DNA and facilitates gene silencing...
  30. Ghosh R, Horowitz Scherer R, Nikitina T, Shlyakhtenko L, Woodcock C. MeCP2 binds cooperatively to its substrate and competes with histone H1 for chromatin binding sites. Mol Cell Biol. 2010;30:4656-70 pubmed publisher
    ..In the present work, employing a wide range of experimental approaches, we shed new light on the many levels of MeCP2 interaction with DNA and chromatin...
  31. Matarazzo V, Cohen D, Palmer A, Simpson P, Khokhar B, Pan S, et al. The transcriptional repressor Mecp2 regulates terminal neuronal differentiation. Mol Cell Neurosci. 2004;27:44-58 pubmed
    ..autism that results from mutation of the gene encoding the transcriptional repressor methyl-CpG binding protein (MECP2)...
  32. Pearson B, Defensor E, Pobbe R, Yamamoto L, Bolivar V, Blanchard D, et al. Mecp2 truncation in male mice promotes affiliative social behavior. Behav Genet. 2012;42:299-312 pubmed publisher
    Mouse models of Rett syndrome, with targeted mutations in the Mecp2 gene, show a high degree of phenotypic consistency with the clinical syndrome...
  33. Zhang L, He J, Jugloff D, Eubanks J. The MeCP2-null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability. Hippocampus. 2008;18:294-309 pubmed
    ..disorder caused by loss of function mutations within the gene encoding methyl CpG-binding protein 2 (MeCP2)...
  34. Asaka Y, Jugloff D, Zhang L, Eubanks J, Fitzsimonds R. Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol Dis. 2006;21:217-27 pubmed
    ..disorder caused by mutations in the gene encoding the transcriptional repressor methyl-CpG-binding protein 2 (MeCP2)...
  35. 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...
  36. Samaco R, McGraw C, Ward C, Sun Y, Neul J, Zoghbi H. Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Hum Mol Genet. 2013;22:96-109 pubmed publisher
    ..disorder caused by mutations in the gene encoding the transcriptional modulator methyl-CpG-binding protein 2 (MeCP2)...
  37. Alvarez Saavedra M, Carrasco L, Sura Trueba S, Demarchi Aiello V, Walz K, Neto J, et al. Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development. Hum Mol Genet. 2010;19:2177-90 pubmed publisher
    b>MeCP2 plays a critical role in interpreting epigenetic signatures that command chromatin conformation and regulation of gene transcription...
  38. Cohen D, Matarazzo V, Palmer A, Tu Y, Jeon O, Pevsner J, et al. Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Mol Cell Neurosci. 2003;22:417-29 pubmed
    ..disorder hypothesized to be due to defective neuronal maturation, is a result of mutations in the mecp2 gene encoding the transcriptional repressor methyl-CpG binding protein (MeCP2)...
  39. Ballas N, Lioy D, Grunseich C, Mandel G. Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nat Neurosci. 2009;12:311-7 pubmed publisher
    ..Rett syndrome (RTT) is caused by sporadic mutations in the transcriptional factor methyl-CpG-binding protein 2 (MeCP2)...
  40. Braunschweig D, Simcox T, Samaco R, LaSalle J. X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain. Hum Mol Genet. 2004;13:1275-86 pubmed
    Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2)...
  41. Chao H, Zoghbi H, Rosenmund C. MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron. 2007;56:58-65 pubmed
    b>MeCP2 is a transcriptional repressor critical for normal neurological function. Prior studies demonstrated that either loss or doubling of MeCP2 results in postnatal neurodevelopmental disorders...
  42. Nelson E, Kavalali E, Monteggia L. MeCP2-dependent transcriptional repression regulates excitatory neurotransmission. Curr Biol. 2006;16:710-6 pubmed
    Mutations in the transcriptional repressor, methyl-CpG binding protein 2 (MeCP2), result in a neurodevelopmental disorder called Rett Syndrome (RTT) ...
  43. Calfa G, Hablitz J, Pozzo Miller L. Network hyperexcitability in hippocampal slices from Mecp2 mutant mice revealed by voltage-sensitive dye imaging. J Neurophysiol. 2011;105:1768-84 pubmed publisher
    ..disorder caused by loss-of-function mutations in the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2)...
  44. 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...
  45. Adachi M, Keefer E, Jones F. A segment of the Mecp2 promoter is sufficient to drive expression in neurons. Hum Mol Genet. 2005;14:3709-22 pubmed
    Rett syndrome (RTT) is caused by mutations in the gene encoding methyl CpG-binding protein 2 (MeCP2). Although MeCP2 shows widespread expression in both neuronal and non-neuronal tissues, the symptoms of RTT are largely neurological...
  46. Luikenhuis S, Giacometti E, Beard C, Jaenisch R. Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. Proc Natl Acad Sci U S A. 2004;101:6033-8 pubmed
    Mutations in MECP2 are the cause of Rett syndrome (RTT) in humans, a neurodevelopmental disorder that affects mainly girls. MeCP2 is a protein that binds CpG dinucleotides and is thought to act as a global transcriptional repressor...
  47. Viemari J, Roux J, Tryba A, Saywell V, Burnet H, Pena F, et al. Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J Neurosci. 2005;25:11521-30 pubmed
    ..a severe X-linked neurological disorder in which most patients have mutations in the methyl-CpG binding protein 2 (MECP2) gene and suffer from bioaminergic deficiencies and life-threatening breathing disturbances...
  48. Lioy D, Garg S, Monaghan C, Raber J, Foust K, Kaspar B, et al. A role for glia in the progression of Rett's syndrome. Nature. 2011;475:497-500 pubmed publisher
    ..autism spectrum disorder caused by loss of function of the transcription factor methyl-CpG-binding protein 2 (MeCP2). Although MeCP2 is expressed in most tissues, loss of MeCP2 expression results primarily in neurological symptoms...
  49. Tropea D, Giacometti E, Wilson N, Beard C, McCurry C, Fu D, et al. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A. 2009;106:2029-34 pubmed publisher
    ..form of X-linked mental retardation caused by mutations in the gene coding for methyl CpG-binding protein 2 (MECP2)...
  50. McLeod F, Ganley R, Williams L, Selfridge J, Bird A, Cobb S. Reduced seizure threshold and altered network oscillatory properties in a mouse model of Rett syndrome. Neuroscience. 2013;231:195-205 pubmed publisher
    ..is a disorder with a pronounced neurological phenotype and is caused mainly by mutations in the X-linked gene MECP2. A common feature of RTT is an abnormal electroencephalography and a propensity for seizures...
  51. Zachariah R, Olson C, Ezeonwuka C, Rastegar M. Novel MeCP2 isoform-specific antibody reveals the endogenous MeCP2E1 expression in murine brain, primary neurons and astrocytes. PLoS ONE. 2012;7:e49763 pubmed publisher
    Rett Syndrome (RTT) is a severe neurological disorder in young females, and is caused by mutations in the X-linked MECP2 gene...
  52. Roux J, Zala D, Panayotis N, Borges Correia A, Saudou F, Villard L. Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway. Neurobiol Dis. 2012;45:786-95 pubmed publisher
    b>Mecp2 deficiency or overexpression causes a wide spectrum of neurological diseases in humans among which Rett Syndrome is the prototype...
  53. 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...
  54. Pelka G, Watson C, Radziewic T, Hayward M, Lahooti H, Christodoulou J, et al. Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. Brain. 2006;129:887-98 pubmed
    Rett syndrome (RTT) is a debilitating neurological condition associated with mutations in the X-linked MECP2 gene, where apparently normal development is seen prior to the onset of cognitive and motor deterioration at 6-18 months of life...
  55. Belichenko N, Belichenko P, Mobley W. Evidence for both neuronal cell autonomous and nonautonomous effects of methyl-CpG-binding protein 2 in the cerebral cortex of female mice with Mecp2 mutation. Neurobiol Dis. 2009;34:71-7 pubmed publisher
    Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the gene MECP2, encoding methyl-CpG-binding protein 2 (MeCP2)...
  56. Chahrour M, Jung S, Shaw C, Zhou X, Wong S, Qin J, et al. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008;320:1224-9 pubmed publisher
    Mutations in the gene encoding the transcriptional repressor methyl-CpG binding protein 2 (MeCP2) cause the neurodevelopmental disorder Rett syndrome...
  57. Kriaucionis S, Paterson A, Curtis J, Guy J, MacLeod N, Bird A. Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Mol Cell Biol. 2006;26:5033-42 pubmed
    Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked MECP2 gene, which encodes a methyl-CpG binding transcriptional repressor...
  58. O Connor R, Zayzafoon M, Farach Carson M, Schanen N. Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome. Bone. 2009;45:346-56 pubmed publisher
    ..mutations in the X-linked gene encoding a regulator of epigenetic gene expression, methyl CpG binding protein, MeCP2. Clinical data show that, along with neurological defects, females with RTT frequently have marked decreases in ..
  59. Ricciardi S, Boggio E, Grosso S, Lonetti G, Forlani G, Stefanelli G, et al. Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. Hum Mol Genet. 2011;20:1182-96 pubmed publisher
    ..efficient treatment that is caused in the majority of cases by mutations in the gene methyl-CpG binding-protein 2 (MECP2)...
  60. Nag N, Mellott T, Berger Sweeney J. Effects of postnatal dietary choline supplementation on motor regional brain volume and growth factor expression in a mouse model of Rett syndrome. Brain Res. 2008;1237:101-9 pubmed publisher
    ..RTT is associated with mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MeCp2), a transcriptional repressor that binds methylated DNA...
  61. 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...
  62. Santos M, Silva Fernandes A, Oliveira P, Sousa N, Maciel P. Evidence for abnormal early development in a mouse model of Rett syndrome. Genes Brain Behav. 2007;6:277-86 pubmed
    ..RTT) is a neurodevelopmental disorder that affects mainly females, associated in most cases to mutations in the MECP2 gene...
  63. 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...
  64. 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...
  65. Pitcher M, Ward C, Arvide E, Chapleau C, Pozzo Miller L, Hoeflich A, et al. Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function. Hum Mol Genet. 2013;22:2626-33 pubmed publisher
    Rett syndrome (RTT), an X-linked postnatal disorder, results from mutations in Methyl CpG-binding protein 2 (MECP2)...
  66. Voituron N, Zanella S, Menuet C, Lajard A, Dutschmann M, Hilaire G. Early abnormalities of post-sigh breathing in a mouse model of Rett syndrome. Respir Physiol Neurobiol. 2010;170:173-82 pubmed publisher
    ..Because Rett syndrome is caused by mutations in the transcriptional repressor methyl-CpG-binding protein 2 (MeCP2), Mecp2-deficient mice have been generated as experimental model...
  67. Ide S, Itoh M, Goto Y. Defect in normal developmental increase of the brain biogenic amine concentrations in the mecp2-null mouse. Neurosci Lett. 2005;386:14-7 pubmed
    To clarify whether Mecp2 dysfunction may cause impairment of the monoaminergic and serotonergic systems, we measured the whole brain concentrations of biogenic amines and related substrates in three mecp2-null male mice and four control ..
  68. Kishi N, Macklis J. MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Mol Cell Neurosci. 2004;27:306-21 pubmed
    ..It was recently discovered that mutation of the methyl-CpG-binding protein 2 (MECP2) gene encoding a transcriptional repressor on the X chromosome causes Rett syndrome...
  69. Wither R, Lang M, Zhang L, Eubanks J. Regional MeCP2 expression levels in the female MeCP2-deficient mouse brain correlate with specific behavioral impairments. Exp Neurol. 2013;239:49-59 pubmed publisher
    Using female MeCP2-deficient mice as a model, we tested whether MeCP2 expression levels would parallel one another in different regions of the brain and spinal cord, and/or whether the levels of MeCP2 protein in these specific neural ..
  70. 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...
  71. Coy J, Sedlacek Z, Bächner D, Delius H, Poustka A. 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. Hum Mol Genet. 1999;8:1253-62 pubmed
    ..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...
  72. Singleton M, Gonzales M, Leung K, Yasui D, Schroeder D, Dunaway K, et al. MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation. Neurobiol Dis. 2011;43:190-200 pubmed publisher
    Mutations in MECP2, encoding methyl CpG binding protein 2, cause the neurodevelopmental disorder Rett syndrome. MeCP2 is an abundant nuclear protein that binds to chromatin and modulates transcription in response to neuronal activity...
  73. Vecsler M, Simon A, Amariglio N, Rechavi G, Gak E. MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro. Epigenetics. 2010;5:61-7 pubmed
    b>MeCP2, the major causative factor of Rett syndrome and related phenotypes including autism, is a two-face nuclear modulator acting via transcriptional and chromatin remodeling mechanisms...
  74. Wu W, Gu W, Xu X, Shang S, Zhao Z. Downregulation of CNPase in a MeCP2 deficient mouse model of Rett syndrome. Neurol Res. 2012;34:107-13 pubmed publisher
    To investigate the possible target genes of methyl-CpG-binding protein 2 (MeCP2) that contribute to Rett syndrome (RTT)...
  75. Samaco R, Mandel Brehm C, McGraw C, Shaw C, McGill B, Zoghbi H. Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat Genet. 2012;44:206-11 pubmed publisher
    ..The minimal region shared among affected individuals includes MECP2 and IRAK1, although it is unclear which gene when overexpressed causes anxiety and social behavior deficits...
  76. Landi S, Putignano E, Boggio E, Giustetto M, Pizzorusso T, Ratto G. The short-time structural plasticity of dendritic spines is altered in a model of Rett syndrome. Sci Rep. 2011;1:45 pubmed publisher
    ..Our study demonstrates that spine dynamics in RTT mice is severely impaired early during development and suggest that treatments for RTT should be started very early in order to reestablish a normal period of spine plasticity. ..
  77. McGill B, Bundle S, Yaylaoglu M, Carson J, Thaller C, Zoghbi H. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006;103:18267-72 pubmed
    ..RTT), a postnatal neurodevelopmental disorder, is caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Children with RTT display cognitive and motor abnormalities as well as autistic features...
  78. Chen R, Akbarian S, Tudor M, Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet. 2001;27:327-31 pubmed
    b>Mecp2 is an X-linked gene encoding a nuclear protein that binds specifically to methylated DNA (ref. 1) and functions as a general transcriptional repressor by associating with chromatin-remodeling complexes...
  79. Saywell V, Viola A, Confort Gouny S, Le Fur Y, Villard L, Cozzone P. Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism. Biochem Biophys Res Commun. 2006;340:776-83 pubmed
    ..in the female population and results from a mutation in the gene encoding methyl-CpG-binding protein 2 (MECP2)...
  80. Dani V, Nelson S. Intact long-term potentiation but reduced connectivity between neocortical layer 5 pyramidal neurons in a mouse model of Rett syndrome. J Neurosci. 2009;29:11263-70 pubmed publisher
    Mutations in MECP2 cause Rett syndrome and some related forms of mental retardation and autism. Mecp2-null mice exhibit symptoms reminiscent of Rett syndrome including deficits in learning...
  81. Zhang X, Cui N, Wu Z, Su J, Tadepalli J, Sekizar S, et al. Intrinsic membrane properties of locus coeruleus neurons in Mecp2-null mice. Am J Physiol Cell Physiol. 2010;298:C635-46 pubmed publisher
    Rett syndrome caused by mutations in methyl-CpG-binding protein 2 (Mecp2) gene shows abnormalities in autonomic functions in which brain stem norepinephrinergic systems play an important role...
  82. Bissonnette J, Knopp S. Effect of inspired oxygen on periodic breathing in methy-CpG-binding protein 2 (Mecp2) deficient mice. J Appl Physiol (1985). 2008;104:198-204 pubmed
    ..RTT) is a neurodevelopmental disorder caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (Mecp2) that encodes a DNA binding protein involved in gene silencing...
  83. Ren J, Ding X, Funk G, Greer J. Anxiety-related mechanisms of respiratory dysfunction in a mouse model of Rett syndrome. J Neurosci. 2012;32:17230-40 pubmed publisher
    ..RTT) is a severe neurological disorder that is associated with mutations in the methyl-CpG binding protein 2 (MECP2) gene...
  84. Chao H, Chen H, Samaco R, Xue M, Chahrour M, Yoo J, et al. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010;468:263-9 pubmed publisher
    Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental disorders including cognitive disorders, autism, juvenile-onset ..
  85. 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 ..
  86. Adachi M, Autry A, Covington H, Monteggia L. MeCP2-mediated transcription repression in the basolateral amygdala may underlie heightened anxiety in a mouse model of Rett syndrome. J Neurosci. 2009;29:4218-27 pubmed publisher
    ..neurodevelopmental disorder that results from loss of function mutations in the methyl-CpG binding protein 2 (MECP2) gene...
  87. Ricceri L, De Filippis B, Laviola G. Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches. Behav Pharmacol. 2008;19:501-17 pubmed publisher
    ..are reported that demonstrate rescue from the damage caused by the absence of the methyl-CpG-binding protein 2 (MeCP2) gene even at a mature stage...