메뉴 건너뛰기




Volumn 287, Issue 17, 2012, Pages 13859-13867

Methyl CpG-binding protein isoform MeCP2-e2 is dispensable for rett syndrome phenotypes but essential for embryo viability and placenta development

Author keywords

[No Author keywords available]

Indexed keywords

ADULT BRAIN; ALTERNATIVE SPLICING; BEHAVIOR EVALUATIONS; CRE-LOXP; EXPRESSION LEVELS; GENE EXPRESSION ANALYSIS; HISTOLOGICAL ANALYSIS; IN-VIVO; ISOFORMS; MENTAL RETARDATION; MUTANT ALLELES; NULL ALLELES; REAL-TIME QUANTITATIVE PCR; RETT SYNDROME; SKELETAL MUSCLE; UP-REGULATION;

EID: 84859945795     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.309864     Document Type: Article
Times cited : (49)

References (40)
  • 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, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., and Zoghbi, H. Y. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23, 185-188 (Pubitemid 29455390)
    • (1999) Nature Genetics , vol.23 , Issue.2 , pp. 185-188
    • Amir, R.E.1    Van Den, V.I.B.2    Wan, M.3    Tran, C.Q.4    Francke, U.5    Zoghbi, H.Y.6
  • 2
    • 0014011176 scopus 로고
    • On an unusual brain atrophy syndrome in hyperammonemia in childhood
    • Rett, A. (1966) [On an unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med. Wochenschr. 116, 723-726
    • (1966) Wien Med. Wochenschr. , vol.116 , pp. 723-726
    • Rett, A.1
  • 3
    • 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
    • Hagberg, B., Aicardi, J., Dias, K., and 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. Ann. Neurol. 14, 471-479 (Pubitemid 13010048)
    • (1983) Annals of Neurology , vol.14 , Issue.4 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 4
    • 0026747761 scopus 로고
    • Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
    • Lewis, J. D., Meehan, R. R., Henzel, W. J., Maurer-Fogy, I., Jeppesen, P., Klein, F., and Bird, A. (1992) Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69, 905-914
    • (1992) Cell , vol.69 , pp. 905-914
    • 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
  • 5
    • 0026658662 scopus 로고
    • Characterization of MeCP2, a vertebrate DNA-binding protein with affinity for methylated DNA
    • Meehan, R. R., Lewis, J. D., and Bird, A. P. (1992) Characterization of MeCP2, a vertebrate DNA-binding protein with affinity for methylated DNA. Nucleic Acids Res. 20, 5085-5092
    • (1992) Nucleic Acids Res. , vol.20 , pp. 5085-5092
    • Meehan, R.R.1    Lewis, J.D.2    Bird, A.P.3
  • 6
    • 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, C. A., Laherty, C. D., Turner, B. M., Eisenman, R. N., and Bird, A. (1998) Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393, 386-389 (Pubitemid 28269714)
    • (1998) Nature , vol.393 , Issue.6683 , 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
  • 9
    • 2542481314 scopus 로고    scopus 로고
    • The major form of MeCP2 has a novel N-terminus generated by alternative splicing
    • DOI 10.1093/nar/gkh349
    • Kriaucionis, S., and Bird, A. (2004) The major form of MeCP2 has a novel N terminus generated by alternative splicing. Nucleic Acids Res. 32, 1818-1823 (Pubitemid 38832727)
    • (2004) Nucleic Acids Research , vol.32 , Issue.5 , pp. 1818-1823
    • Kriaucionis, S.1    Bird, A.2
  • 11
    • 33646893456 scopus 로고    scopus 로고
    • Molecular genetics of Rett syndrome: When DNA methylation goes unrecognized
    • DOI 10.1038/nrg1878, PII N1878
    • Bienvenu, T., and Chelly, J. (2006) Molecular genetics of Rett syndrome. When DNA methylation goes unrecognized. Nat. Rev. Genet. 7, 415-426 (Pubitemid 43780485)
    • (2006) Nature Reviews Genetics , vol.7 , Issue.6 , pp. 415-426
    • Bienvenu, T.1    Chelly, J.2
  • 12
    • 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, J. E., and Bird, A. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat. Genet. 27, 322-326 (Pubitemid 32201856)
    • (2001) Nature Genetics , vol.27 , Issue.3 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 13
    • 0035093830 scopus 로고    scopus 로고
    • Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
    • DOI 10.1038/85906
    • Chen, R. Z., Akbarian, S., Tudor, M., and 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 (Pubitemid 32201857)
    • (2001) Nature Genetics , vol.27 , Issue.3 , pp. 327-331
    • Chen, R.Z.1    Akbarian, S.2    Tudor, M.3    Jaenisch, R.4
  • 15
    • 34247197220 scopus 로고    scopus 로고
    • Differential distribution of the Mecp2 splice variants in the postnatal mouse brain
    • DOI 10.1002/cne.21264
    • Dragich, J. M., Kim, Y. H., Arnold, A. P., and Schanen, N. C. (2007) Differential distribution of the MeCP2 splice variants in the postnatal mouse brain. J. Comp. Neurol. 501, 526-542 (Pubitemid 46622494)
    • (2007) Journal of Comparative Neurology , vol.501 , Issue.4 , pp. 526-542
    • Dragich, J.M.1    Kim, Y.-H.2    Arnold, A.P.3    Schanen, N.C.4
  • 16
    • 4444355116 scopus 로고    scopus 로고
    • Mechanisms underlying lack of insulin-like growth factor-binding protein-3 expression in non-small-cell lung cancer
    • DOI 10.1038/sj.onc.1207882
    • Chang, Y. S., Wang, L., Suh, Y. A., Mao, L., Karpen, S. J., Khuri, F. R., Hong, W. K., and Lee, H. Y. (2004) Mechanisms underlying lack of insulin-like growth factor-binding protein-3 expression in non-small-cell lung cancer. Oncogene 23, 6569-6580 (Pubitemid 39265520)
    • (2004) Oncogene , vol.23 , Issue.39 , pp. 6569-6580
    • Chang, Y.S.1    Wang, L.2    Suh, Y.-A.3    Mao, L.4    Karpen, S.J.5    Khuri, F.R.6    Hong, W.K.7    Lee, H.-Y.8
  • 18
    • 0242332183 scopus 로고    scopus 로고
    • Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2
    • DOI 10.1126/science.1086446
    • Chen, W. G., Chang, Q., Lin, Y., Meissner, A., West, A. E., Griffith, E. C., Jaenisch, R., and Greenberg, M. E. (2003) Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302, 885-889 (Pubitemid 37339632)
    • (2003) Science , vol.302 , Issue.5646 , pp. 885-889
    • Chen, W.G.1    Chang, Q.2    Lin, Y.3    Meissner, A.4    West, A.E.5    Griffith, E.C.6    Jaenisch, R.7    Greenberg, M.E.8
  • 19
    • 0942268867 scopus 로고    scopus 로고
    • Reactivation of the Paternal X Chromosome in Early Mouse Embryos
    • DOI 10.1126/science.1092674
    • Mak, W., Nesterova, T. B., de Napoles, M., Appanah, R., Yamanaka, S., Otte, A. P., and Brockdorff, N. (2004) Reactivation of the paternal X chromosome in early mouse embryos. Science 303, 666-669 (Pubitemid 38141631)
    • (2004) Science , vol.303 , Issue.5658 , pp. 666-669
    • Mak, W.1    Nesterova, T.B.2    De Napoles, M.3    Appanah, R.4    Yamanaka, S.5    Otte, A.P.6    Brockdorff, N.7
  • 20
    • 17444427391 scopus 로고    scopus 로고
    • Imprinted X inactivation and reprogramming in the preimplantation mouse embryo
    • DOI 10.1093/hmg/ddi117
    • Sado, T., and Ferguson-Smith, A. C. (2005) Imprinted X inactivation and reprogramming in the preimplantation mouse embryo. Hum. Mol. Genet. 14, R59-64 (Pubitemid 40542621)
    • (2005) Human Molecular Genetics , vol.14 , Issue.SPEC. ISS. 1
    • Sado, T.1    Ferguson-Smith, A.C.2
  • 21
    • 0016692463 scopus 로고
    • Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse
    • Takagi, N., and Sasaki, M. (1975) Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse. Nature 256, 640-642
    • (1975) Nature , vol.256 , pp. 640-642
    • Takagi, N.1    Sasaki, M.2
  • 22
    • 0020005114 scopus 로고
    • Preferential paternal X inactivation in extraembryonic tissues of early mouse embryos
    • Harper, M. I., Fosten, M., and Monk, M. (1982) Preferential paternal X inactivation in extraembryonic tissues of early mouse embryos. J. Embryol. Exp. Morphol. 67, 127-135 (Pubitemid 12177045)
    • (1982) Journal of Embryology and Experimental Morphology , vol.67 , pp. 127-135
    • Harper, M.I.1    Fosten, M.2    Monk, M.3
  • 23
    • 0031813176 scopus 로고    scopus 로고
    • Disruption of primary imprinting during oocyte growth leads to the modified expression of imprinted genes during embryogenesis
    • Obata, Y., Kaneko-Ishino, T., Koide, T., Takai, Y., Ueda, T., Domeki, I., Shiroishi, T., Ishino, F., and Kono, T. (1998) Disruption of primary imprinting during oocyte growth leads to the modified expression of imprinted genes during embryogenesis. Development 125, 1553-1560 (Pubitemid 28239365)
    • (1998) Development , vol.125 , Issue.8 , pp. 1553-1560
    • Obata, Y.1    Kaneko-Ishino, T.2    Koide, T.3    Takai, Y.4    Ueda, T.5    Domeki, I.6    Shiroishi, T.7    Ishino, F.8    Kono, T.9
  • 25
    • 2642514742 scopus 로고    scopus 로고
    • The expression of CXCR4/CXCL12 in first-trimester human trophoblast cells
    • DOI 10.1095/biolreprod.103.024729
    • Wu, X., Li, D. J., Yuan, M. M., Zhu, Y., and Wang, M. Y. (2004) The expression of CXCR4/CXCL12 in first-trimester human trophoblast cells. Biol. Reprod. 70, 1877-1885 (Pubitemid 38715647)
    • (2004) Biology of Reproduction , vol.70 , Issue.6 , pp. 1877-1885
    • Wu, X.1    Li, D.-J.2    Yuan, M.-M.3    Zhu, Y.4    Wang, M.-Y.5
  • 26
    • 0033986515 scopus 로고    scopus 로고
    • Expression of the imprinted genes MEST/Mest in human and murine placenta suggests a role in angiogenesis
    • DOI 10.1002/(SICI)1097-0177(200001)217:1<1::AID-DVDY1>3.0.CO;2-4
    • Mayer, W., Hemberger, M., Frank, H. G., Grümmer, R., Winterhager, E., Kaufmann, P., and Fundele, R. (2000) Expression of the imprinted genes MEST/Mest in human and murine placenta suggests a role in angiogenesis. Dev. Dyn. 217, 1-10 (Pubitemid 30036586)
    • (2000) Developmental Dynamics , vol.217 , Issue.1 , pp. 1-10
    • Mayer, W.1    Hemberger, M.2    Frank, H.-G.3    Grummer, R.4    Winterhager, E.5    Kaufmann, P.6    Fundele, R.7
  • 27
    • 0031687985 scopus 로고    scopus 로고
    • Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest
    • DOI 10.1038/2464
    • Lefebvre, L., Viville, S., Barton, S. C., Ishino, F., Keverne, E. B., and Surani, M. A. (1998) Abnormal maternal behavior and growth retardation associated with loss of the imprinted gene Mest. Nat. Genet. 20, 163-169 (Pubitemid 28455449)
    • (1998) Nature Genetics , vol.20 , Issue.2 , pp. 163-169
    • Lefebvre, L.1    Viville, S.2    Barton, S.C.3    Ishino, F.4    Keverne, E.B.5    Azim, S.M.6
  • 29
    • 0034534937 scopus 로고    scopus 로고
    • Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth
    • Beechey, C. V. (2000) Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth. Cytogenet. Cell Genet. 90, 309-314
    • (2000) Cytogenet. Cell Genet. , vol.90 , pp. 309-314
    • Beechey, C.V.1
  • 30
    • 55549118918 scopus 로고    scopus 로고
    • Mesoderm-specific transcript is associated with fat mass expansion in response to a positive energy balance
    • Nikonova, L., Koza, R. A., Mendoza, T., Chao, P. M., Curley, J. P., Kozak, L. P. (2008) Mesoderm-specific transcript is associated with fat mass expansion in response to a positive energy balance. FASEB J. 22, 3925-3937
    • (2008) FASEB J. , vol.22 , pp. 3925-3937
    • Nikonova, L.1    Koza, R.A.2    Mendoza, T.3    Chao, P.M.4    Curley, J.P.5    Kozak, L.P.6
  • 32
    • 20444430424 scopus 로고    scopus 로고
    • Development of structures and transport functions in the mouse placenta
    • DOI 10.1152/physiol.00001.2005
    • Watson, E. D., and Cross, J. C. (2005) Development of structures and transport functions in the mouse placenta. Physiology 20, 180-193 (Pubitemid 40807056)
    • (2005) Physiology , Issue.3 , pp. 180-193
    • Watson, E.D.1    Cross, J.C.2
  • 33
    • 12744254780 scopus 로고    scopus 로고
    • Developmental biology of the placenta and the origins of placental insufficiency
    • Chaddha, V., Viero, S., Huppertz, B., and Kingdom, J. (2004) Developmental biology of the placenta and the origins of placental insufficiency. Semin. Fetal Neonatal Med. 9, 357-369
    • (2004) Semin. Fetal Neonatal Med. , vol.9 , pp. 357-369
    • Chaddha, V.1    Viero, S.2    Huppertz, B.3    Kingdom, J.4
  • 35
  • 37
    • 0242301564 scopus 로고    scopus 로고
    • MECP2 Mutations or Polymorphisms in Mentally Retarded Boys: Diagnostic Implications
    • DOI 10.2165/00066982-200307010-00002
    • Bourdon, V., Philippe, C., Martin, D., Verloès, A., Grandemenge, A., and Jonveaux, P. (2003) MECP2 mutations or polymorphisms in mentally retarded boys. Diagnostic implications. Mol. Diagn. 7, 3-7 (Pubitemid 37339027)
    • (2002) Molecular Diagnosis , vol.7 , Issue.1 , pp. 3-7
    • Bourdon, V.1    Philippe, C.2    Martin, D.3    Verloes, A.4    Grandemenge, A.5    Jonveaux, P.6
  • 38
    • 0037158475 scopus 로고    scopus 로고
    • Balanced X chromosome inactivation patterns in the Rett syndrome brain
    • DOI 10.1002/ajmg.10557
    • Shahbazian, M. D., Sun, Y., and Zoghbi, H. Y. (2002) Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am. J. Med. Genet. 111, 164-168 (Pubitemid 34809498)
    • (2002) American Journal of Medical Genetics , vol.111 , Issue.2 , pp. 164-168
    • Shahbazian, M.D.1    Sun, Y.2    Zoghbi, H.Y.3
  • 39
    • 1542344372 scopus 로고    scopus 로고
    • X-Chromosome Inactivation Patterns Are Unbalanced and Affect the Phenotypic Outcome in a Mouse Model of Rett Syndrome
    • DOI 10.1086/382228
    • Young, J. I., and Zoghbi, H. Y. (2004) X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am. J. Hum. Genet. 74, 511-520 (Pubitemid 38325921)
    • (2004) American Journal of Human Genetics , vol.74 , Issue.3 , pp. 511-520
    • Young, J.I.1    Zoghbi, H.Y.2
  • 40
    • 83255185186 scopus 로고    scopus 로고
    • Transgenic complementation of MeCP2 deficiency. Phenotypic rescue of Mecp2-null mice by isoform-specific transgenes
    • Kerr, B., Soto, C. J., Saez, M., Abrams, A., Walz, K., and Young, J. I. (2012) Transgenic complementation of MeCP2 deficiency. Phenotypic rescue of Mecp2-null mice by isoform-specific transgenes. Eur. J. Hum. Genet. 20, 69-76
    • (2012) Eur. J. Hum. Genet. , vol.20 , pp. 69-76
    • Kerr, B.1    Soto, C.J.2    Saez, M.3    Abrams, A.4    Walz, K.5    Young, J.I.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.