A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome (original) (raw)

• Rett, V.A. Uber ein eigenartiges hirnatrophisches Syndrom bei Hyperammonamie im Kindesalter. Weiner Medizinische Wochenschrift 37, 723–726 (1966).
  Google Scholar
• Hagberg, B., Aicardi, J., Dias, K. & Ramos, O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann. Neurol. 14, 471–479 (1983).
  Article CAS Google Scholar
• Amir, R.E. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genet. 23, 185–188 (1999).
  Article CAS Google Scholar
• Amir, R.E. et al. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann. Neurol. 47, 670–679 (2000).
  Article CAS Google Scholar
• Wan, M. et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet. 65, 1520–1529 (1999).
  Article CAS Google Scholar
• Bienvenu, T. et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum. Mol. Genet. 9, 1377–1284 (2000).
  Article CAS Google Scholar
• Cheadle, J.P. 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. 9, 1119–1129 (2000).
  Article CAS Google Scholar
• Hampson, K., Woods, C.G., Latip, F. & Webb, T. Mutations in the MECP2 gene in a cohort of girls with Rett syndrome. J. Med. Genet. 37, 610–612 (2000).
  Article CAS Google Scholar
• Huppke, P., Laccone, F., Kramer, N., Engel, W. & Hanefeld, F. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum. Mol. Genet. 9, 1369–1375 (2000).
  Article CAS Google Scholar
• Obata, K. et al. Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in patients with Rett syndrome. J. Med. Genet. 37, 608–610 (2000).
  Article CAS Google Scholar
• Xiang, F. et al. Mutation screening in Rett syndrome patients. J. Med. Genet. 37, 250–255 (2000).
  Article CAS Google Scholar
• Buyse, I.M. et al. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am. J. Hum. Genet. 67, 1428–1436 (2000).
  Article CAS Google Scholar
• Lewis, J.D. et al. Purification, sequence and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69, 905–914 (1992).
  Article CAS Google Scholar
• Nan, X., Tate, P., Li, E. & Bird, A.P. DNA methylation specifies chromosomal localization of MeCP2. Mol. Cell. Biol. 16, 414–421 (1996).
  Article CAS Google Scholar
• Nan, X., Campoy, J. & Bird, A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88, 471–481 (1997).
  Article CAS Google Scholar
• Nan, X. et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393, 386–389 (1998).
  Article CAS Google Scholar
• Jones, P.L. et al. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nature Genet. 19, 187–191 (1998).
  Article CAS Google Scholar
• Tate, P., Skarnes, W. & Bird, A. The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse. Nature Genet. 12, 205–208 (1996).
  Article CAS Google Scholar
• Meehan, R.R., Lewis, J.D., McKay, S., Kleiner, E.L. & Bird, A.P. Identification of a mammalian protein that binds specifically to DNA containing methylated CpGs. Cell 58, 499–507 (1989).
  Article CAS Google Scholar
• Ng, H.-H. et al. MBD2 is a transcriptional repressor belonging to the MeCP1 histone deacetylase complex. Nature Genet. 23, 58–61 (1999).
  Article CAS Google Scholar
• Sauer, B. & Henderson, N. Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage P1. Proc. Natl. Acad. Sci. USA 86, 5166–5170 (1988).
  Article Google Scholar
• Schwenk, F., Baron, U. & Rajewsky, K.A. cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells. Nucleic Acids Res. 23, 5080–5081 (1995).
  Article CAS Google Scholar
• Tronche, F. et al. Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety. Nature Genet. 23, 99–103 (1999).
  Article CAS Google Scholar
• Hendrich, B., Guy, J., Ramsahoye, B., Wilson, V.A. & Bird, A. Closely related proteins MBD2 and MBD3 play distinctive but interacting roles in mouse development. Genes Dev. (in press).
• Fujita, N. et al. Methylation-mediated transcriptional silencing in euchromatin by methyl-CpG binding protein MBD1 isoforms. Mol. Cell. Biol. 19, 6415–6426 (1999).
  Article CAS Google Scholar
• Ng, H.-H., Jeppesen, P. & Bird, A. Active repression of methylated genes by the chromosomal protein MBD1. Mol. Cell. Biol. 20, 1394–1406 (2000).
  Article CAS Google Scholar
• Crawley, J.N. et al. Behavioural phenotypes of inbred mouse strains: implications and recommendations for molecular studies. Psychopharmacology 132, 107–124 (1997).
  Article CAS Google Scholar
• 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. Nature Genet. 27, 327–331 (2001).
  Article CAS Google Scholar
• Yusufzai, T.M. & Wolffe, A.P. Functional consequences of Rett syndrome mutations on human MeCP2. Nucleic Acids Res. 28, 4172–4179 (2000).
  Article CAS Google Scholar
• Free, A. et al. DNA recognition by the methyl-CpG binding domain of MeCP2. J. Biol. Chem. (in press).
• Rogers, D.C. et al. Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment. Mamm. Genome 8, 711–713 (1997).
  Article CAS Google Scholar