An increase in MECP2 dosage impairs neural tube formation

Neurobiology of Disease

Volumn 67, Issue , 2014, Pages 49-56

  Petazzi, Paolo ^a   Akizu, Naiara ^b   García, Alejandra ^b   Estarás, Conchi ^b   Martínez de Paz, Alexia ^a   Rodríguez Paredes, Manuel ^a   Martínez Balbás, Marian A ^b   Huertas, Dori ^a   Esteller, Manel ^a,c,d  

^a BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^b INSTITUT DE BIOLOGIA MOLECULAR DE BARCELONA   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d INSTITUCIÓ CATALANA DE RECERCA I ESTUDIS AVANÇATS ICREA   (Spain)

Author keywords

Chicken neurogenesis; MECP2; Neuroblast proliferation; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2; MECP2 PROTEIN, HUMAN;

ARTICLE; CELL CYCLE ARREST; CELL LOSS; CELL POPULATION; CELL PROLIFERATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EMBRYO; NERVE CELL DIFFERENTIATION; NERVE CELL NECROSIS; NERVOUS SYSTEM DEVELOPMENT; NEURAL STEM CELL; NEURAL TUBE; NEUROBLAST; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; AMINO ACID SEQUENCE; ANIMAL; APOPTOSIS; CHICKEN; GENE DOSAGE; GENETICS; GROWTH, DEVELOPMENT AND AGING; HUMAN; METABOLISM; MOLECULAR GENETICS; SPINAL CORD;

AMINO ACID SEQUENCE; ANIMALS; APOPTOSIS; CHICKENS; GENE DOSAGE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; NEURAL TUBE; SPINAL CORD;

EID: 84897486201     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2014.03.009     Document Type: Article

References (40)

1. Akizu N., Estarás C., Guerrero L., Martí E., Martínez-Balbás M.A. H3K27me3 regulates BMP activity in developing spinal cord. Development 2010, 137:2915-2925.
2. Amir R.E., Van den Veyver I.B., Wan M., Tran C.Q., Francke U., Zoghbi H.Y. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 1999, 23:185-188.
3. Balmer D., Goldstine J., Rao Y.M., LaSalle J.M. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. J. Mol. Med. 2003, 81:61-68.
4. Bracaglia G., Conca B., Bergo A., Rusconi L., Zhou Z., Greenberg M.E., Landsberger N., Soddu S., Kilstrup-Nielsen C. Methyl-CpG-binding protein 2 is phosphorylated by homeodomain-interacting protein kinase 2 and contributes to apoptosis. EMBO Rep. 2009, 10:1327-1333.
5. Clapier C.R., Cairns B.R. The biology of chromatin remodeling complexes. Annu. Rev. Biochem. 2009, 78:273-304.
6. Cohen D.R., Matarazzo V., Palmer A.M., Tu Y., Jeon O.H., Pevsner J., Ronnett G.V. Expression of MeCP2 in olfactory receptor neurons is developmentally regulated and occurs before synaptogenesis. Mol. Cell. Neurosci. 2003, 22:417-429.
7. Collins A.L., Levenson J.M., Vilaythong A.P., Richman R., Armstrong D.L., Noebels J.L., David Sweatt J., Zoghbi H.Y. Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum. Mol. Genet. 2004, 13:2679-2689.
8. Coverdale L.E., Martyniuk C.J., Trudeau V.L., Martin C.C. Differential expression of the methyl-cytosine binding protein 2 gene in embryonic and adult brain of zebrafish. Brain Res. Dev. Brain Res. 2004, 153:281-287.
9. Dastidar S.G., Bardai F.H., Ma C., Price V., Rawat V., Verma P., Narayanan V., D'Mello S.R. Isoform-specific toxicity of MeCP2 in postmitotic neurons: suppression of neurotoxicity by FoxG1. J. Neurosci. 2012, 32:2846-2855.
10. de la Pompa J.L., Wakeham A., Correia K.M., Samper E., Brown S., Aguilera R.J., Nakano T., Honjo T., Mak T.W., Rossant J., Conlon R.A. Conservation of the Notch signalling pathway in mammalian neurogenesis. Development 1997, 124:1139-1148.
11. del Gaudio D., et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet. Med. 2006, 8:784-792.
12. Dragich J.M., Kim Y.H., Arnold A.P., Schanen N.C. Differential distribution of the MeCP2 splice variants in the postnatal mouse brain. J. Comp. Neurol. 2007, 501:526-542.
13. Ebert D.H., Gabel H.W., Robinson N.D., Kastan N.R., Hu L.S., Cohen S., Navarro A.J., Lyst M.J., Ekiert R., Bird A.P., Greenberg M.E. Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. Nature 2013, 499:341-345.
14. Friez M.J., Jones J.R., Clarkson K., Lubs H., Abuelo D., Bier J.A., Pai S., Simensen R., Williams C., Giampietro P.F., Schwartz C.E., Stevenson R.E. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28. Pediatrics 2006, 118:e1687-e1695.
15. Galvão T.C., Thomas J.O. Structure-specific binding of MeCP2 to four-way junction DNA through its methyl CpG-binding domain. Nucleic Acids Res. 2005, 33:6603-6609.
16. Gianakopoulos P.J., Zhang Y., Pencea N., Orlic-Milacic M., Mittal K., Windpassinger C., White S.J., Kroisel P.M., Chow E.W., Saunders C.J., 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:210-216.
17. Hamburger V., Hamilton H.L. A series of normal stages in the development of the chick embryo. 1951. Dev. Dyn. 1992, 195:231-272.
18. Jung B.P., Jugloff D.G., Zhang G., Logan R., Brown S., Eubanks J.H. The expression of methyl CpG binding factor MeCP2 correlates with cellular differentiation in the developing rat brain and in cultured cells. J. Neurobiol. 2003, 55:86-96.
19. Kamakaka R.T., Biggins S. Histone variants: deviants?. Genes Dev. 2005, 19:295-310.
20. Klose R.J., Bird A.P. Genomic DNA methylation: the mark and its mediators. Trends Biochem. Sci. 2006, 31:89-97.
21. Klose R.J., Sarraf S.A., Schmiedeberg L., McDermott S.M., Stancheva I., Bird A.P. DNA binding selectivity of MeCP2 due to a requirement for A/T sequences adjacent to methyl-CpG. Mol. Cell 2005, 19:667-678.
22. Kouzarides T. Chromatin modifications and their function. Cell 2007, 128:693-705.
23. Kriaucionis S., Bird A. The major form of MECP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res. 2004, 32:1818-1823.
24. Lewis J.D., Meehan R.R., Henzel W.J., Maurer-Fogy I., Jeppesen P., Klein F., Bird A. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 1992, 69:905-914.
25. Lugtenberg D., de Brouwer A.P., Kleefstra T., Oudakker A.R., Frints S.G., Schrander-Stumpel C.T., Fryns J.P., Jensen L.R., Chelly J., Moraine C., Turner G., Veltman J.A., Hamel B.C., de Vries B.B., van Bokhoven H., Yntema H.G. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J. Med. Genet. 2006, 43:362-370.
26. Lütolf S., Radtke F., Aguet M., Suter U., Taylor V. Notch1 is required for neuronal and glial differentiation in the cerebellum. Development 2002, 129:373-385.
27. Macdonald J.L., Verster A., Berndt A., Roskams A.J. MBD2 and MeCP2 regulate distinct transitions in the stage-specific differentiation of olfactory receptor neurons. Mol. Cell. Neurosci. 2010, 44:55-67.
28. Martínez-Morales P.L., Diez del Corral R., Olivera-Martínez I., Quiroga A.C., Das R.M., Barbas J.A., Storey K.G., Morales A.V. FGF and retinoic acid activity gradients control the timing of neural crest cell emigration in the trunk. J. Cell Biol. 2011, 194:489-503.
29. Megason S.G., McMahon A.P. A mitogen gradient of dorsal midline Wnts organizes growth in the CNS. Development 2002, 129:2087-2098.
30. Meins M., Lehmann J., Gerresheim F., Herchenbach J., Hagedorn M., Hameister K., Epplen J.T. 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.
31. Miranda T.B., Jones P.A. DNA methylation: the nuts and bolts of repression. J. Cell. Physiol. 2007, 213:384-390.
32. Nan X., Tate P., Li E., Bird A. DNA methylation specifies chromosomal localization of MECP2. Mol. Cell. Biol. 1996, 16:414-421.
33. Neves J., Parada C., Chamizo M., Giráldez F. Jagged 1 regulates the restriction of Sox2 expression in the developing chicken inner ear: a mechanism for sensory organ specification. Development 2011, 138:735-744.
34. Parrish A.B.., Freel C.D., Kornbluth S. Cellular mechanisms controlling caspase activation and function. Cold Spring Harb. Perspect. Biol. 2013, 5.
35. Stancheva I., Collins A.L., Van den Veyver I.B., Zoghbi H., Meehan R.R. A mutant form of MECP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol. Cell 2003, 12:425-435.
36. Tsujimura K., Abematsu M., Kohyama J., Namihira M., Nakashima K. Neuronal differentiation of neural precursor cells is promoted by the methyl-CpG-binding protein MECP2. Exp. Neurol. 2009, 219:104-111.
37. Urdinguio R.G., Sanchez-Mut J.V., Esteller M. Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies. Lancet Neurol. 2009, 8:1056-1072.
38. Van Esch H., Bauters M., Ignatius J., Jansen M., Raynaud M., Hollanders K., Lugtenberg D., Bienvenu T., Jensen L.R., Gecz J., Moraine C., Marynen P., Fryns J.P., Froyen G. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am. J. Hum. Genet. 2005, 77:442-453.
39. Weitzel J.M., Buhrmester H., Strätling W.H. Chicken MAR-binding protein ARBP is homologous to rat methyl-CpG-binding protein MECP2. Mol. Cell. Biol. 1997, 17:5656-5666.
40. Zachariah R.M., Olson C.O., 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.