Novel MeCP2 Isoform-Specific Antibody Reveals the Endogenous MeCP2E1 Expression in Murine Brain, Primary Neurons and Astrocytes

PLoS ONE

Volumn 7, Issue 11, 2012, Pages

  Zachariah, Robby M ^a   Olson, Carl O ^a   Ezeonwuka, Chinelo ^a   Rastegar, Mojgan ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ISOPROTEIN; METHYL CPG BINDING PROTEIN 2; METHYL CPG BINDING PROTEIN 2E1; METHYL CPG BINDING PROTEIN 2E1 ANTIBODY; METHYL CPG BINDING PROTEIN 2E2; PROTEIN ANTIBODY; UNCLASSIFIED DRUG;

ANIMAL CELL; ANTIBODY DETECTION; ANTIBODY SPECIFICITY; ARTICLE; ASTROCYTE; BRAIN CORTEX; BRAIN NERVE CELL; BRAIN STEM; CEREBELLUM; CONTROLLED STUDY; CORPUS STRIATUM; CROSS REACTION; DENTATE GYRUS; GENE EXPRESSION; HIPPOCAMPUS; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KNOCKOUT MOUSE; MECP2 GENE; MOUSE; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; OLFACTORY BULB; PROTEIN EXPRESSION; THALAMUS; WESTERN BLOTTING;

ANIMALS; ASTROCYTES; BRAIN; BRAIN MAPPING; GENE EXPRESSION REGULATION; GENES, X-LINKED; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MICE; MICE, KNOCKOUT; MOTOR NEURONS; MUTATION; PROTEIN ISOFORMS; RETT SYNDROME;

AVES; MURINAE; MUS;

EID: 84869787995     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0049763     Document Type: Article

References (44)

1. Meehan RR, Lewis JD, Bird AP, (1992) Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA. Nucleic Acids Res 20: 5085-5092.
2. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, et al. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188.
3. Hagberg B, (1985) Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr Scand 74: 405-408.
4. Zachariah RM, Rastegar M, (2012) Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research,. Neural Plasticity 2012: 10.
5. Chahrour M, Zoghbi HY, (2007) The story of Rett syndrome: from clinic to neurobiology. Neuron 56: 422-437.
6. Orrico A, Lam C, Galli L, Dotti MT, Hayek G, et al. (2000) MECP2 mutation in male patients with non-specific X-linked mental retardation. FEBS Lett 481: 285-288.
7. Lam CW, Yeung WL, Ko CH, Poon PM, Tong SF, et al. (2000) Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J Med Genet 37: E41.
8. Watson P, Black G, Ramsden S, Barrow M, Super M, et al. (2001) Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet 38: 224-228.
9. Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, et al. (2002) MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. Neuropediatrics 33: 33-36.
10. Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, et al. (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 36: 339-341.
11. Kriaucionis S, Bird A, (2004) The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res 32: 1818-1823.
12. Guy J, Hendrich B, Holmes M, Martin JE, Bird A, (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27: 322-326.
13. Chen RZ, Akbarian S, Tudor M, Jaenisch R, (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27: 327-331.
14. Moretti P, Levenson JM, Battaglia F, Atkinson R, Teague R, et al. (2006) Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci 26: 319-327.
15. Itoh M, Tahimic CG, Ide S, Otsuki A, Sasaoka T, et al. (2012) Methyl CpG-binding Protein Isoform MeCP2_e2 Is Dispensable for Rett Syndrome Phenotypes but Essential for Embryo Viability and Placenta Development. J Biol Chem 287: 13859-13867.
16. Saunders CJ, Minassian BE, Chow EW, Zhao W, Vincent JB, (2009) Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. Am J Med Genet A 149A: 1019-1023.
17. Gianakopoulos PJ, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, et al. (2012) 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 159B: 210-216.
18. Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, et al. (2006) Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. J Med Genet 43: 470-477.
19. Dragich JM, Kim YH, Arnold AP, Schanen NC, (2007) Differential distribution of the MeCP2 splice variants in the postnatal mouse brain. J Comp Neurol 501: 526-542.
20. Jugloff DG, Vandamme K, Logan R, Visanji NP, Brotchie JM, et al. (2008) Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice. Hum Mol Genet 17: 1386-1396.
21. Giacometti E, Luikenhuis S, Beard C, Jaenisch R, (2007) Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Proc Natl Acad Sci U S A 104: 1931-1936.
22. Guy J, Gan J, Selfridge J, Cobb S, Bird A, (2007) Reversal of neurological defects in a mouse model of Rett syndrome. Science 315: 1143-1147.
23. Rastegar M, Hotta A, Pasceri P, Makarem M, Cheung AY, et al. (2009) MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy. PLoS One 4: e6810.
24. Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, et al. (2009) Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc Natl Acad Sci U S A 106: 21966-21971.
25. Fyffe SL, Neul JL, Samaco RC, Chao HT, Ben-Shachar S, et al. (2008) Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron 59: 947-958.
26. Adachi M, Autry AE, Covington HE, 3rd, Monteggia LM (2009) MeCP2-mediated transcription repression in the basolateral amygdala may underlie heightened anxiety in a mouse model of Rett syndrome. J Neurosci 29: 4218-4227.
27. Gemelli T, Berton O, Nelson ED, Perrotti LI, Jaenisch R, et al. (2006) Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice. Biol Psychiatry 59: 468-476.
28. Chao HT, Chen H, Samaco RC, Xue M, Chahrour M,et al. Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature 468: 263-269.
29. Kinsella TM, Nolan GP, (1996) Episomal vectors rapidly and stably produce high-titer recombinant retrovirus. Hum Gene Ther 7: 1405-1413.
30. Slack RS, El-Bizri H, Wong J, Belliveau DJ, Miller FD, (1998) A critical temporal requirement for the retinoblastoma protein family during neuronal determination. J Cell Biol 140: 1497-1509.
31. Shao Z, Kamboj A, Anderson CM, (2009) Functional and immunocytochemical characterization of D-serine transporters in cortical neuron and astrocyte cultures. J Neurosci Res 87: 2520-2530.
32. Rastegar M, Kobrossy L, Kovacs EN, Rambaldi I, Featherstone M, (2004) Sequential histone modifications at Hoxd4 regulatory regions distinguish anterior from posterior embryonic compartments. Mol Cell Biol 24: 8090-8103.
33. Shahbazian MD, Antalffy B, Armstrong DL, Zoghbi HY, (2002) Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet 11: 115-124.
34. Thambirajah AA, Ng MK, Frehlick LJ, Li A, Serpa JJ, et al. (2012) MeCP2 binds to nucleosome free (linker DNA) regions and to H3K9/H3K27 methylated nucleosomes in the brain. Nucleic Acids Res 40: 2884-2897.
35. Skene PJ, Illingworth RS, Webb S, Kerr AR, James KD, et al. (2010) Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol Cell 37: 457-468.
36. Jung BP, Jugloff DG, Zhang G, Logan R, Brown S, et al. (2003) The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells. J Neurobiol 55: 86-96.
37. Lioy DT, Garg SK, Monaghan CE, Raber J, Foust KD, et al. (2011) A role for glia in the progression of Rett's syndrome. Nature 475: 497-500.
38. Martinowich K, Hattori D, Wu H, Fouse S, He F, et al. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science 302: 890-893.
39. Adachi M, Keefer EW, Jones FS, (2005) A segment of the Mecp2 promoter is sufficient to drive expression in neurons. Hum Mol Genet 14: 3709-3722.
40. Ballas N, Lioy DT, Grunseich C, Mandel G, (2009) Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology. Nat Neurosci 12: 311-317.
41. Kerr B, Soto CJ, Saez M, Abrams A, Walz K, et al. (2012) Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes. Eur J Hum Genet 20: 69-76.
42. McGraw CM, Samaco RC, Zoghbi HY, (2011) Adult neural function requires MeCP2. Science 333: 186.
43. Nguyen MV, Du F, Felice CA, Shan X, Nigam A, et al. (2012) MeCP2 Is Critical for Maintaining Mature Neuronal Networks and Global Brain Anatomy during Late Stages of Postnatal Brain Development and in the Mature Adult Brain. J Neurosci 32: 10021-10034.
44. Maezawa I, Swanberg S, Harvey D, LaSalle JM, Jin LW, (2009) Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. J Neurosci 29: 5051-5061.