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Volumn 2014, Issue 3, 2014, Pages

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

EID: 84904976180     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.02676.001     Document Type: Article
Times cited : (70)

References (33)
  • 1
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
    • doi: 10.1038/13810
    • Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics 23:127-128. doi: 10.1038/13810.
    • (1999) Nature Genetics , vol.23 , pp. 127-128
    • Amir, R.E.1    Van den Veyver, I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 2
    • 84874759852 scopus 로고    scopus 로고
    • An at-hook domain in MeCP2 determines the Clinical course of rett syndrome and Related disorders
    • doi: 10.1016/j.cell.2013.01.038
    • Baker SA, Chen L, Wilkins AD, Yu P, Lichtarge O, Zoghbi HY. 2013. An at-hook domain in MeCP2 determines the Clinical course of rett syndrome and Related disorders. Cell 152:984-996. doi: 10.1016/j.cell.2013.01.038.
    • (2013) Cell , vol.152 , pp. 984-996
    • Baker, S.A.1    Chen, L.2    Wilkins, A.D.3    Yu, P.4    Lichtarge, O.5    Zoghbi, H.Y.6
  • 3
    • 67249150482 scopus 로고    scopus 로고
    • Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
    • doi: 10.1093/hmg/ddp181
    • Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. 2009. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Human Molecular Genetics 18:2431-2441. doi: 10.1093/hmg/ddp181.
    • (2009) Human Molecular Genetics , vol.18 , pp. 2431-2441
    • Ben-Shachar, S.1    Chahrour, M.2    Thaller, C.3    Shaw, C.A.4    Zoghbi, H.Y.5
  • 5
    • 45849105557 scopus 로고    scopus 로고
    • MeCP2, a key contributor to neurological disease, activates and represses transcription
    • doi: 10.1126/science.1153252
    • Chahrour M, Jung SY, Shaw C, Zhou X, Wong STC, Qin J, Zoghbi HY. 2008. MeCP2, a key contributor to neurological disease, activates and represses transcription. Science 320:1224-1229. doi: 10.1126/science.1153252.
    • (2008) Science , vol.320 , pp. 1224-1229
    • Chahrour, M.1    Jung, S.Y.2    Shaw, C.3    Zhou, X.4    Wong, S.T.C.5    Qin, J.6    Zoghbi, H.Y.7
  • 6
    • 35648978121 scopus 로고    scopus 로고
    • The Story of rett syndrome: From Clinic to Neurobiology
    • doi: 10.1016/j.neuron.2007.10.001
    • Chahrour M, Zoghbi HY. 2007. The Story of rett syndrome: from Clinic to Neurobiology. Neuron 56:422-437. doi: 10.1016/j.neuron.2007.10.001.
    • (2007) Neuron , vol.56 , pp. 422-437
    • Chahrour, M.1    Zoghbi, H.Y.2
  • 8
    • 0037405913 scopus 로고    scopus 로고
    • RettBASE: The IRSA MECP2 variation database - a new mutation database in evolution
    • doi: 10.1002/humu.10194
    • Christodoulou J, Grimm A, Maher T, Bennetts B. 2003. RettBASE: the IRSA MECP2 variation database - a new mutation database in evolution. Human Mutation 21:466-472. doi: 10.1002/humu.10194.
    • (2003) Human Mutation , vol.21 , pp. 466-472
    • Christodoulou, J.1    Grimm, A.2    Maher, T.3    Bennetts, B.4
  • 14
    • 0035094767 scopus 로고    scopus 로고
    • A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
    • doi: 10.1038/85899
    • Guy J, Hendrich B, Holmes M, Martin JE, Bird A. 2001. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nature Genetics 27:322-326. doi: 10.1038/85899.
    • (2001) Nature Genetics , vol.27 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 15
    • 0020507697 scopus 로고
    • A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
    • doi: 10.1002/ana.410140412
    • Hagberg B, Aicardi J, Dias K, Ramos O. 1983. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Annals of Neurology 14:471-479. doi: 10.1002/ana.410140412.
    • (1983) Annals of Neurology , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 16
    • 0036207456 scopus 로고    scopus 로고
    • A mutation hot spot for nonspecific x-linked mental retardation in the MECP2 gene causes the PPM-x syndrome
    • doi: 10.1086/339553
    • Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A. 2002. A mutation hot spot for nonspecific x-linked mental retardation in the MECP2 gene causes the PPM-x syndrome. American Journal of Human Genetics 70:1034-1037. doi: 10.1086/339553.
    • (2002) American Journal of Human Genetics , vol.70 , pp. 1034-1037
    • Klauck, S.M.1    Lindsay, S.2    Beyer, K.S.3    Splitt, M.4    Burn, J.5    Poustka, A.6
  • 17
    • 0037488244 scopus 로고    scopus 로고
    • Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain
    • doi: 10.1136/jmg.40.7.487
    • Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Schanen C, Tamura M. 2003. Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain. Journal of Medical Genetics 40:487-493. doi: 10.1136/jmg.40.7.487.
    • (2003) Journal of Medical Genetics , vol.40 , pp. 487-493
    • Kudo, S.1    Nomura, Y.2    Segawa, M.3    Fujita, N.4    Nakao, M.5    Schanen, C.6    Tamura, M.7
  • 18
    • 0035118802 scopus 로고    scopus 로고
    • Mutation spectrum in patients with rett syndrome in the German population: Evidence of hot spot regions
    • doi: 10.1002/humu.3
    • Laccone F, Huppke P, Hanefeld F, Meins M. 2001. Mutation spectrum in patients with rett syndrome in the German population: evidence of hot spot regions. Human Mutation 17:183-190. doi: 10.1002/humu.3.
    • (2001) Human Mutation , vol.17 , pp. 183-190
    • Laccone, F.1    Huppke, P.2    Hanefeld, F.3    Meins, M.4
  • 20
    • 0026747761 scopus 로고
    • Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
    • doi: 10.1016/0092-8674(92)90610-O
    • Lewis JD, Meehan RR, Henzel WJ, Maurer-Fogy I, Jeppesen P, Klein F, Bird A. 1992. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69:906-914. doi: 10.1016/0092-8674(92)90610-O.
    • (1992) Cell , vol.69 , pp. 906-914
    • Lewis, J.D.1    Meehan, R.R.2    Henzel, W.J.3    Maurer-Fogy, I.4    Jeppesen, P.5    Klein, F.6    Bird, A.7
  • 24
    • 23944509593 scopus 로고    scopus 로고
    • Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome
    • doi: 10.1136/jmg.2004.023804
    • Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT. 2005. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. Journal of Medical Genetics 42:e12. doi: 10.1136/jmg.2004.023804.
    • (2005) Journal of Medical Genetics , vol.42
    • Meins, M.1    Lehmann, J.2    Gerresheim, F.3    Herchenbach, J.4    Hagedorn, M.5    Hameister, K.6    Epplen, J.T.7
  • 25
    • 84857519646 scopus 로고    scopus 로고
    • A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission
    • doi: 10.1523/JNEUROSCI.6000-11.2012
    • Na ES, Nelson ED, Adachi M, Autry AE, Mahgoub MA, Kavalali ET, Monteggia LM. 2012. A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission. Journal of Neuroscience 32:3109-3117. doi: 10.1523/JNEUROSCI.6000-11.2012.
    • (2012) Journal of Neuroscience , vol.32 , pp. 3109-3117
    • Na, E.S.1    Nelson, E.D.2    Adachi, M.3    Autry, A.E.4    Mahgoub, M.A.5    Kavalali, E.T.6    Monteggia, L.M.7
  • 26
    • 0342437491 scopus 로고    scopus 로고
    • MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
    • doi: 10.1016/S0092-8674(00)81887-5
    • Nan X, Campoy FJ, Bird A. 1997. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88:471-481. doi: 10.1016/S0092-8674(00)81887-5.
    • (1997) Cell , vol.88 , pp. 471-481
    • Nan, X.1    Campoy, F.J.2    Bird, A.3
  • 27
    • 0032574977 scopus 로고    scopus 로고
    • Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
    • doi: 10.1038/30764
    • Nan X, Ng H-H, Johnson CA, Laherty CD, Turner BM, Eisenman RN, Bird A. 1998. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393:386-389. doi: 10.1038/30764.
    • (1998) Nature , vol.393 , pp. 386-389
    • Nan, X.1    Ng, H.-H.2    Johnson, C.A.3    Laherty, C.D.4    Turner, B.M.5    Eisenman, R.N.6    Bird, A.7
  • 28
    • 76849094693 scopus 로고    scopus 로고
    • Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state
    • doi: 10.1016/j.molcel.2010.01.030
    • Skene PJ, Illingworth RS, Webb S, Kerr ARW, James KD, Turner DJ, Andrews R, Bird AP. 2010. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Molecular Cell 37:457-468. doi: 10.1016/j.molcel.2010.01.030.
    • (2010) Molecular Cell , vol.37 , pp. 457-468
    • Skene, P.J.1    Illingworth, R.S.2    Webb, S.3    Kerr, A.R.W.4    James, K.D.5    Turner, D.J.6    Andrews, R.7    Bird, A.P.8
  • 29
    • 0043178993 scopus 로고    scopus 로고
    • A mutant form of MeCP2 protein associated with human rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos
    • doi: 10.1016/S1097-2765(03)00276-4
    • Stancheva I, Collins AL, Van den Veyver IB, Zoghbi H, Meehan RR. 2003. A mutant form of MeCP2 protein associated with human rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Molecular Cell 12:425-435. doi: 10.1016/S1097-2765(03)00276-4.
    • (2003) Molecular Cell , vol.12 , pp. 425-435
    • Stancheva, I.1    Collins, A.L.2    Van den Veyver, I.B.3    Zoghbi, H.4    Meehan, R.R.5
  • 30
    • 40949153065 scopus 로고    scopus 로고
    • The AT-hook-containing proteins SOB3/AHL29 and ESC/AHL27 are negative modulators of hypocotyl growth in Arabidopsis
    • doi: 10.1111/j.1365-313X.2007.03393.x
    • Street IH, Shah PK, Smith AM, Avery N, Neff MM. 2008. The AT-hook-containing proteins SOB3/AHL29 and ESC/AHL27 are negative modulators of hypocotyl growth in Arabidopsis. The Plant Journal 54:1-14. doi: 10.1111/j.1365-313X.2007.03393.x.
    • (2008) The Plant Journal , vol.54 , pp. 1-14
    • Street, I.H.1    Shah, P.K.2    Smith, A.M.3    Avery, N.4    Neff, M.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.