메뉴 건너뛰기




Volumn 1, Issue 1, 2000, Pages 11-19

DNA methylation in health and disease

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLATION; GENETIC DISORDER; GENETICS; GENOME; HUMAN; REVIEW;

EID: 0034305821     PISSN: 14710056     EISSN: None     Source Type: Journal    
DOI: 10.1038/35049533     Document Type: Review
Times cited : (913)

References (101)
  • 1
    • 0029803192 scopus 로고    scopus 로고
    • De novo DNA cytosine methyltransferase activities in mouse embryonic stem cells
    • Lei, H. et al. De novo DNA cytosine methyltransferase activities in mouse embryonic stem cells. Development 122, 3195-3205 (1996).
    • (1996) Development , vol.122 , pp. 3195-3205
    • Lei, H.1
  • 2
    • 0026708177 scopus 로고
    • Targeted mutation of the DNA methyltransferase gene results in embryonic lethality
    • Li, E., Bestor, T. H. & Jaenisch, R. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell 69, 915-926 (1992).
    • (1992) Cell , vol.69 , pp. 915-926
    • Li, E.1    Bestor, T.H.2    Jaenisch, R.3
  • 3
    • 0033615717 scopus 로고    scopus 로고
    • DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
    • Okano, M., Bell, D. W., Haber, D. A. & Li, W. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development. Cell 99, 247-257 (1999). References 2 and 3 describe the effects of loss of Dnmt1, Dnmt3a and Dnmt3b on mouse development.
    • (1999) Cell , vol.99 , pp. 247-257
    • Okano, M.1    Bell, D.W.2    Haber, D.A.3    Li, W.4
  • 4
    • 0028940587 scopus 로고
    • Gene number, noise reduction and biological complexity
    • Bird, A. P. Gene number, noise reduction and biological complexity. Trends Genet. 11, 94-99 (1995).
    • (1995) Trends Genet. , vol.11 , pp. 94-99
    • Bird, A.P.1
  • 5
    • 0030824599 scopus 로고    scopus 로고
    • Somatic linker histories cause loss of mesodermal competence in Xenopus
    • Steinbach, O. C., Wolffe, A. P. & Rupp, R. A. Somatic linker histories cause loss of mesodermal competence in Xenopus. Nature 389, 395-399 (1997).
    • (1997) Nature , vol.389 , pp. 395-399
    • Steinbach, O.C.1    Wolffe, A.P.2    Rupp, R.A.3
  • 6
    • 0033597438 scopus 로고    scopus 로고
    • Transcriptional coregulators in development
    • Mannervik, M., Nibu, Y., Zhang, H. & Levine, M. Transcriptional coregulators in development. Science 284, 606-609 (1999).
    • (1999) Science , vol.284 , pp. 606-609
    • Mannervik, M.1    Nibu, Y.2    Zhang, H.3    Levine, M.4
  • 8
    • 0032960181 scopus 로고    scopus 로고
    • Cancer epigenetics comes of age
    • Jones, P. A. & Laird, P. W. Cancer epigenetics comes of age. Nature Genet. 21, 163-166 (1999). References 7 and 8 are good reviews on the roles of DNA methylation in cancer.
    • (1999) Nature Genet. , vol.21 , pp. 163-166
    • Jones, P.A.1    Laird, P.W.2
  • 9
    • 0030743612 scopus 로고    scopus 로고
    • DNA methylation and imprinting: Why bother?
    • Jaenisch, R. DNA methylation and imprinting: why bother? Trends Genet 13, 323-329 (1997).
    • (1997) Trends Genet , vol.13 , pp. 323-329
    • Jaenisch, R.1
  • 10
    • 0034037026 scopus 로고    scopus 로고
    • Genomic imprinting and environmental disease susceptibility
    • Jirtle, J. L., Sander, M. & Barrett, J. C. Genomic imprinting and environmental disease susceptibility. Environ. Health Perspect. 108, 271-278 (2000).
    • (2000) Environ. Health Perspect. , vol.108 , pp. 271-278
    • Jirtle, J.L.1    Sander, M.2    Barrett, J.C.3
  • 11
    • 0033975095 scopus 로고    scopus 로고
    • Epigenetics and its role in disease
    • Tyko, B. & Ashkenas, J. Epigenetics and its role in disease. J. Clin. Invest. 105, 245-246 (2000).
    • (2000) J. Clin. Invest. , vol.105 , pp. 245-246
    • Tyko, B.1    Ashkenas, J.2
  • 12
    • 0032831285 scopus 로고    scopus 로고
    • Methylation of the estrogen receptor gene is associated with aging and atherosclerosis in the cardiovascular system
    • Post, W. S. et al. Methylation of the estrogen receptor gene is associated with aging and atherosclerosis in the cardiovascular system. Cardiovasc. Res. 43, 985-991 (1999).
    • (1999) Cardiovasc. Res. , vol.43 , pp. 985-991
    • Post, W.S.1
  • 13
    • 0024342297 scopus 로고
    • Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes
    • Cooper, D. N. & Krawczak, M. Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes. Hum. Genet. 83, 181-188 (1989).
    • (1989) Hum. Genet. , vol.83 , pp. 181-188
    • Cooper, D.N.1    Krawczak, M.2
  • 14
    • 0022000776 scopus 로고
    • A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA
    • Bird, A., Taggart, M., Frommer, M., Miller, O. J. & Macleod, D. A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA. Cell 10, 91-99 (1985).
    • (1985) Cell , vol.10 , pp. 91-99
    • Bird, A.1    Taggart, M.2    Frommer, M.3    Miller, O.J.4    Macleod, D.5
  • 15
    • 0027141519 scopus 로고
    • Number of CpG islands and genes in human and mouse
    • Antequera, F. & Bird, A. Number of CpG islands and genes in human and mouse. Proc. Natl Acad. Sci. USA 90, 11995-11999 (1993).
    • (1993) Proc. Natl Acad. Sci. USA , vol.90 , pp. 11995-11999
    • Antequera, F.1    Bird, A.2
  • 16
    • 0025266610 scopus 로고
    • Alternative chromatin structure at CpG islands
    • Tazi, J. & Bird, A. Alternative chromatin structure at CpG islands. Cell 60, 909-920 (1990).
    • (1990) Cell , vol.60 , pp. 909-920
    • Tazi, J.1    Bird, A.2
  • 18
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper, D. N. & Youssoufian, H. The CpG dinucleotide and human genetic disease. Hum. Genet. 78, 151-155 (1988).
    • (1988) Hum. Genet. , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 19
    • 0025145277 scopus 로고
    • 5-methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes
    • Rideout, W. M. I., Coetzee, G. A., Olumi, A. F. & Jones, P. A. 5-methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes. Science 249, 1288-1290 (1990).
    • (1990) Science , vol.249 , pp. 1288-1290
    • Rideout, W.M.I.1    Coetzee, G.A.2    Olumi, A.F.3    Jones, P.A.4
  • 20
    • 0028071555 scopus 로고
    • Mutations in the p53 tumor suppressor gene: Clues to cancer etiology and molecular pathogenesis
    • Greenblatt, M. S., Bennett, W. P., Hollstein, M. & Harris, C. C. Mutations in the p53 tumor suppressor gene: Clues to cancer etiology and molecular pathogenesis. Cancer Res. 54, 4855-4878 (1994).
    • (1994) Cancer Res. , vol.54 , pp. 4855-4878
    • Greenblatt, M.S.1    Bennett, W.P.2    Hollstein, M.3    Harris, C.C.4
  • 21
    • 0023701018 scopus 로고
    • Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells
    • Bestor, T., Laudano, A., Mattaliano, R. & Ingram, V. Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells. J. Mol. Biol. 203, 971-983 (1988).
    • (1988) J. Mol. Biol. , vol.203 , pp. 971-983
    • Bestor, T.1    Laudano, A.2    Mattaliano, R.3    Ingram, V.4
  • 22
    • 0032722062 scopus 로고    scopus 로고
    • Recombinant human DNA (cytosine-5) methyltransferase I. Expression, purification, and comparison of de novo and maintenance methylation
    • Pradhan, S., Bacolla, A., Wells, R. D. & Roberts, R. J. Recombinant human DNA (cytosine-5) methyltransferase I. Expression, purification, and comparison of de novo and maintenance methylation. J. Biol. Chem. 274, 33002-33010 (1999).
    • (1999) J. Biol. Chem. , vol.274 , pp. 33002-33010
    • Pradhan, S.1    Bacolla, A.2    Wells, R.D.3    Roberts, R.J.4
  • 23
    • 0030779188 scopus 로고    scopus 로고
    • Baculovirus-mediated expression and characterization of the full-length murine DNA methyltransferase
    • Pradhan, S. et al. Baculovirus-mediated expression and characterization of the full-length murine DNA methyltransferase. Nucleic Acids Res. 25, 4666-4673 (1997).
    • (1997) Nucleic Acids Res. , vol.25 , pp. 4666-4673
    • Pradhan, S.1
  • 24
    • 0033153303 scopus 로고    scopus 로고
    • The human DNA methyltransferases (DNMTs) 1, 3a, and 3b: Coordinate mRNA expression in normal tissues and overexpression in tumors
    • Robertson, K. D. et al. The human DNA methyltransferases (DNMTs) 1, 3a, and 3b: Coordinate mRNA expression in normal tissues and overexpression in tumors. Nucleic Acids Res. 27, 2291-2298 (1999).
    • (1999) Nucleic Acids Res. , vol.27 , pp. 2291-2298
    • Robertson, K.D.1
  • 25
    • 0026439115 scopus 로고
    • A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei
    • Leonhardt, H., Page, A. W. Weier, H. & Bestor, T. H. A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei. Cell 71, 865-873 (1992).
    • (1992) Cell , vol.71 , pp. 865-873
    • Leonhardt, H.1    Page, A.W.2    Weier, H.3    Bestor, T.H.4
  • 26
  • 27
    • 0027378582 scopus 로고
    • Role for DNA methylation in genomic imprinting
    • Li, E., Beard, C. & Jaenisch, R. Role for DNA methylation in genomic imprinting. Nature 366, 362-365 (1993).
    • (1993) Nature , vol.366 , pp. 362-365
    • Li, E.1    Beard, C.2    Jaenisch, R.3
  • 28
    • 0028786951 scopus 로고
    • Loss of methylation activates Xist in somatic but not in embryonic cells
    • Beard, C., Li, E. & Jaenisch, R. Loss of methylation activates Xist in somatic but not in embryonic cells. Genes Dev. 9, 2325-2334 (1995).
    • (1995) Genes Dev. , vol.9 , pp. 2325-2334
    • Beard, C.1    Li, E.2    Jaenisch, R.3
  • 29
    • 0032693798 scopus 로고    scopus 로고
    • Drosophila proteins related to vertebrate DNA (5-cytosine) methyltransferases
    • Hung, M.-S. et al. Drosophila proteins related to vertebrate DNA (5-cytosine) methyltransferases. Proc. Natl Acad. Sci. USA 96, 11940-11945 (1999).
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 11940-11945
    • Hung, M.-S.1
  • 30
    • 0032706939 scopus 로고    scopus 로고
    • Vestiges of DNA methylation system in Drosophila melanogaster
    • Tweedie, S. et al. Vestiges of DNA methylation system in Drosophila melanogaster. Nature Genet. 23, 389-390 (1999).
    • (1999) Nature Genet. , vol.23 , pp. 389-390
    • Tweedie, S.1
  • 31
    • 0031860739 scopus 로고    scopus 로고
    • Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases
    • Okano, M., Xie, S. & Li, E. Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases. Nature Genet. 19, 219-220 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 219-220
    • Okano, M.1    Xie, S.2    Li, E.3
  • 32
    • 0034712867 scopus 로고    scopus 로고
    • Conserved plant genes with similarity to mammalian de novo DNA methyltransferases
    • Cao, X. et al. Conserved plant genes with similarity to mammalian de novo DNA methyltransferases. Proc. Natl Acad. Sci. USA 97, 4979-4984 (2000).
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 4979-4984
    • Cao, X.1
  • 33
    • 0032697888 scopus 로고    scopus 로고
    • Mammalian (cytosine-5) methyltransferases cause genomic DNA methylation and lethality in Drosophila
    • Lyko, L. et al. Mammalian (cytosine-5) methyltransferases cause genomic DNA methylation and lethality in Drosophila. Nature Genet. 23, 363-366 (1999).
    • (1999) Nature Genet. , vol.23 , pp. 363-366
    • Lyko, L.1
  • 34
    • 0029973718 scopus 로고    scopus 로고
    • De novo methylation of CpG island sequences in human fibroblasts overexpressing DNA (cytosine-5)-methyltransferase
    • Vertino, P. M., Yen, R.-W. C., Gao, J. & Baylin, S. B. De novo methylation of CpG island sequences in human fibroblasts overexpressing DNA (cytosine-5)-methyltransferase. Mol. Cell. Biol. 16, 4555-4565 (1996). This paper uniquely describes the use of somatic cell knockout technology to delete the DNMT1 gene in a cancer cell line.
    • (1996) Mol. Cell. Biol. , vol.16 , pp. 4555-4565
    • Vertino, P.M.1    Yen, R.-W.C.2    Gao, J.3    Baylin, S.B.4
  • 35
    • 0034720284 scopus 로고    scopus 로고
    • CpG methylation is maintained in human cancer cells lacking DNMT1
    • Rhee, I. et al. CpG methylation is maintained in human cancer cells lacking DNMT1. Nature 404, 1003-1007 (2000).
    • (2000) Nature , vol.404 , pp. 1003-1007
    • Rhee, I.1
  • 36
    • 0033919595 scopus 로고    scopus 로고
    • DNMT1 forms a complex with Rb, E2F1, and HDAC1 and represses transcription from E2F-responsive promoters
    • Robertson, K. D. et al. DNMT1 forms a complex with Rb, E2F1, and HDAC1 and represses transcription from E2F-responsive promoters. Nature Genet. 25, 338-342 (2000).
    • (2000) Nature Genet. , vol.25 , pp. 338-342
    • Robertson, K.D.1
  • 37
    • 0033945861 scopus 로고    scopus 로고
    • DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication loci
    • Roundtree, M. R., Bachman, K. E. & Baylin, S. B. DNMT1 binds HDAC2 and a new co-repressor, DMAP1, to form a complex at replication loci. Nature Genet. 25, 269-277 (2000).
    • (2000) Nature Genet. , vol.25 , pp. 269-277
    • Roundtree, M.R.1    Bachman, K.E.2    Baylin, S.B.3
  • 38
    • 0030840954 scopus 로고    scopus 로고
    • Cytosine methylation and the ecology of intragenomic parasites
    • Yoder, J. A., Walsh, C. P. & Bestor, T. H. Cytosine methylation and the ecology of intragenomic parasites. Trends Genet. 13, 335-340 (1997).
    • (1997) Trends Genet. , vol.13 , pp. 335-340
    • Yoder, J.A.1    Walsh, C.P.2    Bestor, T.H.3
  • 39
    • 0033135285 scopus 로고    scopus 로고
    • Eukaryotic DNA methylation as an evolutionary device
    • Colot, V. & Rossignol, J.-L. Eukaryotic DNA methylation as an evolutionary device. BioEssays 21, 402-411 (1999).
    • (1999) BioEssays , vol.21 , pp. 402-411
    • Colot, V.1    Rossignol, J.-L.2
  • 40
    • 0033566173 scopus 로고    scopus 로고
    • Identificatton of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families
    • Montagna, M. et al. Identificatton of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families. Oncogene 18, 4160-4165 (1999).
    • (1999) Oncogene , vol.18 , pp. 4160-4165
    • Montagna, M.1
  • 41
    • 17344370076 scopus 로고    scopus 로고
    • The impact of L1 retrotransposons on the human genome
    • Kazazian, J. H. H. & Moran, J. V. The impact of L1 retrotransposons on the human genome. Nature Genet. 19, 19-24 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 19-24
    • Kazazian, J.H.H.1    Moran, J.V.2
  • 42
    • 0028898746 scopus 로고
    • Transcriptional silencing of human Alu sequences and inhibition of protein binding in the B box regulatory elements by 5′-CG-3′ methylation
    • Kochanek, S., Renz, D. & Doerfler, W. Transcriptional silencing of human Alu sequences and inhibition of protein binding in the B box regulatory elements by 5′-CG-3′ methylation. FEBS Lett. 360, 115-120 (1995).
    • (1995) FEBS Lett. , vol.360 , pp. 115-120
    • Kochanek, S.1    Renz, D.2    Doerfler, W.3
  • 44
    • 0031662164 scopus 로고    scopus 로고
    • Transcription of IAP endogenous retroviruses is constrained by cytosine methylation
    • Walsh, C. P., Chaillet, J. R. & Bestor, T. H. Transcription of IAP endogenous retroviruses is constrained by cytosine methylation. Nature Genet. 20, 116-117 (1998).
    • (1998) Nature Genet. , vol.20 , pp. 116-117
    • Walsh, C.P.1    Chaillet, J.R.2    Bestor, T.H.3
  • 45
    • 0009673698 scopus 로고
    • Undermethylation associated with retroelement activation and chromosome remodeling in an interspecific mammalian hybrid
    • Waugh-O'Neill, R. J., O'Neill, M. J. & Marshall-Graves, J. A. Undermethylation associated with retroelement activation and chromosome remodeling in an interspecific mammalian hybrid. Nature 393, 68-72 (1988).
    • (1988) Nature , vol.393 , pp. 68-72
    • Waugh-O'Neill, R.J.1    O'Neill, M.J.2    Marshall-Graves, J.A.3
  • 46
    • 0032987773 scopus 로고    scopus 로고
    • DNA methylation and expression of LINE-1 and HERV-K provirus sequences in urothelial and renal cell carcinomas
    • Flori, A. R., Lower, R., Schmitz-Drager, B. J. & Schulz, W. A. DNA methylation and expression of LINE-1 and HERV-K provirus sequences in urothelial and renal cell carcinomas. Br. J. Cancer 80, 1312-1321 (1999).
    • (1999) Br. J. Cancer , vol.80 , pp. 1312-1321
    • Flori, A.R.1    Lower, R.2    Schmitz-Drager, B.J.3    Schulz, W.A.4
  • 47
    • 0032783976 scopus 로고    scopus 로고
    • Metastatic rat carcinoma cells express a new retrotransposon
    • Grassi, M., Girault, J. M., Wang, W. P., Thiery, J. P. & Jouanneau, J. Metastatic rat carcinoma cells express a new retrotransposon. Gene 233, 59-66 (1999).
    • (1999) Gene , vol.233 , pp. 59-66
    • Grassi, M.1    Girault, J.M.2    Wang, W.P.3    Thiery, J.P.4    Jouanneau, J.5
  • 48
    • 0031035045 scopus 로고    scopus 로고
    • A 1-kb Alu-mediated germ-line deletion removing BFCA1 exon 17
    • Puget, N. et al. A 1-kb Alu-mediated germ-line deletion removing BFCA1 exon 17. Cancer Res. 57, 828-831 (1997).
    • (1997) Cancer Res. , vol.57 , pp. 828-831
    • Puget, N.1
  • 49
    • 0023646823 scopus 로고
    • A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination
    • Rouyer, F., Simmler, M. C., Page, D. & Weissenbach, J. A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination. Cell 51, 417-425 (1987).
    • (1987) Cell , vol.51 , pp. 417-425
    • Rouyer, F.1    Simmler, M.C.2    Page, D.3    Weissenbach, J.4
  • 50
    • 0031005848 scopus 로고    scopus 로고
    • Emerin deletion reveals a common X chromosome inversion mediated by inverted repeats
    • Small, K., Iber, J. & Warren, S. T. Emerin deletion reveals a common X chromosome inversion mediated by inverted repeats. Nature Genet. 16, 96-99 (1997).
    • (1997) Nature Genet. , vol.16 , pp. 96-99
    • Small, K.1    Iber, J.2    Warren, S.T.3
  • 51
    • 0032079514 scopus 로고    scopus 로고
    • Suppression of crossing-over by DNA methylation in Ascobolus
    • Maloisel, L. & Rossignol, J.-L. Suppression of crossing-over by DNA methylation in Ascobolus. Genes Dev. 12, 1381-1389 (1998).
    • (1998) Genes Dev. , vol.12 , pp. 1381-1389
    • Maloisel, L.1    Rossignol, J.-L.2
  • 52
    • 0026507505 scopus 로고
    • CpG methylated minichromosomes become inaccessible for V(D)J recombination after undergoing replication
    • Hsieh, C.-L. & Lieber, M. R. CpG methylated minichromosomes become inaccessible for V(D)J recombination after undergoing replication. EMBO J. 11, 3115-325 (1992).
    • (1992) EMBO J. , vol.11 , pp. 3115-3325
    • Hsieh, C.-L.1    Lieber, M.R.2
  • 53
    • 0029360421 scopus 로고
    • Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies
    • Paldi, A., Gyapay, G. & Jami, J. Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies. Curr. Biol. 5, 1030-1035 (1995).
    • (1995) Curr. Biol. , vol.5 , pp. 1030-1035
    • Paldi, A.1    Gyapay, G.2    Jami, J.3
  • 54
    • 0028593842 scopus 로고
    • Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients
    • Miniou, P. et al. Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients. Hum. Mol. Genet. 3, 2093-2102 (1994).
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2093-2102
    • Miniou, P.1
  • 55
    • 0030867514 scopus 로고    scopus 로고
    • DNA demethylation and pericentromeric rearrangements of chromosome 1
    • Ji, W. et al. DNA demethylation and pericentromeric rearrangements of chromosome 1. Mutat. Res. 379, 33-41 (1997).
    • (1997) Mutat. Res. , vol.379 , pp. 33-41
    • Ji, W.1
  • 56
    • 0031837109 scopus 로고    scopus 로고
    • Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
    • Jones, P. L. et al. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription. Nature Genet. 19, 187-191 (1998).
    • (1998) Nature Genet. , vol.19 , pp. 187-191
    • Jones, P.L.1
  • 57
    • 0032574977 scopus 로고    scopus 로고
    • Transcriptional repression by the methyl-CpG-binding protein MeCP2 invloves a histone deacetylase complex
    • Nan, X. et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 invloves a histone deacetylase complex. Nature 393, 386-389 (1998). References 56 and 57 were the first reports to link DNA methylation to methyl-CpG binding proteins and chromatin-remodelling factors, such as histone deacetylase.
    • (1998) Nature , vol.393 , pp. 386-389
    • Nan, X.1
  • 58
    • 0027535235 scopus 로고
    • Effects of DNA methylation on DNA-binding proteins and gene expression
    • Tate, P. H. & Bird, A. P. Effects of DNA methylation on DNA-binding proteins and gene expression. Curr. Opin. Genet. Dev. 3, 226-231 (1993).
    • (1993) Curr. Opin. Genet. Dev. , vol.3 , pp. 226-231
    • Tate, P.H.1    Bird, A.P.2
  • 59
    • 0026747761 scopus 로고
    • Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
    • 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).
    • (1992) Cell , vol.69 , pp. 905-914
    • Lewis, J.D.1
  • 60
    • 0033520515 scopus 로고    scopus 로고
    • The solution structure of the domain from MeCP2 that binds to methylated DNA
    • Wakefield, R. I. D. et al. The solution structure of the domain from MeCP2 that binds to methylated DNA. J. Mol. Biol. 291, 1055-1065 (1999).
    • (1999) J. Mol. Biol. , vol.291 , pp. 1055-1065
    • Wakefield, R.I.D.1
  • 61
    • 0342437491 scopus 로고    scopus 로고
    • MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
    • Nan, X., Campoy, F. J. & Bird, A. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin. Cell 88, 471-481 (1997). This paper was the first to report that Rett syndrome was associated with mutations in the MeCP2 gene.
    • (1997) Cell , vol.88 , pp. 471-481
    • Nan, X.1    Campoy, F.J.2    Bird, A.3
  • 62
    • 0032830639 scopus 로고    scopus 로고
    • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein
    • Amir, R. E. et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein. Nature Genet. 23, 185-188 (1999).
    • (1999) Nature Genet. , vol.23 , pp. 185-188
    • Amir, R.E.1
  • 63
    • 0034192205 scopus 로고    scopus 로고
    • MeCP2 driven transcriptional repression in vitro: Selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery
    • Kaludov, N. & Wolffe, A. P. MeCP2 driven transcriptional repression in vitro: selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery. Nucleic Acids Res. 28, 1921-1928 (2000).
    • (2000) Nucleic Acids Res. , vol.28 , pp. 1921-1928
    • Kaludov, N.1    Wolffe, A.P.2
  • 64
    • 0029655782 scopus 로고    scopus 로고
    • DNA methylation specifies chromosomal localization of MeCP2
    • Nan, X., Tate, P., Li, E. & Bird, A. DNA methylation specifies chromosomal localization of MeCP2. Mol. Cell. Biol. 10, 414-421 (1996).
    • (1996) Mol. Cell. Biol. , vol.10 , pp. 414-421
    • Nan, X.1    Tate, P.2    Li, E.3    Bird, A.4
  • 65
    • 0033152745 scopus 로고    scopus 로고
    • The methyl CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
    • Chandler, S. P., Guschin, D., Landsberger, N. & Wolffe, A. P. The methyl CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA. Biochemistry 38, 7008-7018 (1999).
    • (1999) Biochemistry , vol.38 , pp. 7008-7018
    • Chandler, S.P.1    Guschin, D.2    Landsberger, N.3    Wolffe, A.P.4
  • 66
    • 0344630574 scopus 로고
    • Chromatin structure is required to block transcription from the methylated herpes simplex virus thymidine kinase gene
    • Buschhausen, G., Wittig, B., Graessmann, M. & Graessmann, A. Chromatin structure is required to block transcription from the methylated herpes simplex virus thymidine kinase gene. Proc. Natl Acad. Sci. USA 84, 1177-1181 (1986).
    • (1986) Proc. Natl Acad. Sci. USA , vol.84 , pp. 1177-1181
    • Buschhausen, G.1    Wittig, B.2    Graessmann, M.3    Graessmann, A.4
  • 67
    • 0031104930 scopus 로고    scopus 로고
    • DNA methylation directs a time-dependent repression of transcription initiation
    • Kass, S. U., Landsberger, N. & Wolffe, A. P. DNA methylation directs a time-dependent repression of transcription initiation. Curr. Biol. 7, 157-165 (1997).
    • (1997) Curr. Biol. , vol.7 , pp. 157-165
    • Kass, S.U.1    Landsberger, N.2    Wolffe, A.P.3
  • 68
    • 0032845039 scopus 로고    scopus 로고
    • The Mi-2 complex couptes DNA methylation to chromatin remodelling and histone deacetylation
    • Wade, P. A. et al. The Mi-2 complex couptes DNA methylation to chromatin remodelling and histone deacetylation. Nature Genet. 23, 62-66 (1999).
    • (1999) Nature Genet. , vol.23 , pp. 62-66
    • Wade, P.A.1
  • 69
    • 0032871399 scopus 로고    scopus 로고
    • MBD2 is a transcriptional repressor belonging to the MeCP1 histone deacetylase complex
    • Ng, H.-H. et al. MBD2 is a transcriptional repressor belonging to the MeCP1 histone deacetylase complex. Nature Genet. 23, 58-61 (1999).
    • (1999) Nature Genet. , vol.23 , pp. 58-61
    • Ng, H.-H.1
  • 70
    • 0031876314 scopus 로고    scopus 로고
    • Disruption of higher-order folding by core histone acetylation dramatically enhances transcription of nucleosomal arrays by RNA polymerase III
    • Tse, C., Sera, T., Wolffe, A. P. & Hansen, J. C. Disruption of higher-order folding by core histone acetylation dramatically enhances transcription of nucleosomal arrays by RNA polymerase III. Mol. Cell. Biol. 18, 4629-4638 (1998).
    • (1998) Mol. Cell. Biol. , vol.18 , pp. 4629-4638
    • Tse, C.1    Sera, T.2    Wolffe, A.P.3    Hansen, J.C.4
  • 71
    • 0033973587 scopus 로고    scopus 로고
    • Active repression of methylated genes by the chromosomal protein MBD1
    • Ng, H.-H., Jeppesen, P. & Bird, A. Active repression of methylated genes by the chromosomal protein MBD1. Mol. Cell. Biol. 20, 1394-1406 (2000).
    • (2000) Mol. Cell. Biol. , vol.20 , pp. 1394-1406
    • Ng, H.-H.1    Jeppesen, P.2    Bird, A.3
  • 72
    • 0032772371 scopus 로고    scopus 로고
    • Methylation-mediated transcriptional silencing in euchromatin by methyl-CpG binding proton MBD1 isoforms
    • Fujita, N. et al. Methylation-mediated transcriptional silencing in euchromatin by methyl-CpG binding proton MBD1 isoforms. Mol. Cell. Biol. 19, 6415-6426 (1999).
    • (1999) Mol. Cell. Biol. , vol.19 , pp. 6415-6426
    • Fujita, N.1
  • 73
  • 74
    • 0034069652 scopus 로고    scopus 로고
    • Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the patterns of DNA methylation
    • Gibbons, R. J. et al. Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the patterns of DNA methylation. Nature Genet. 24, 368-371 (2000).
    • (2000) Nature Genet. , vol.24 , pp. 368-371
    • Gibbons, R.J.1
  • 75
    • 0032907728 scopus 로고    scopus 로고
    • Maintenance of genomic methylation requires a SWI2/SNF2-like protein
    • Jeddeloh, J. A., Stokes, T. L. & Richards, E. J. Maintenance of genomic methylation requires a SWI2/SNF2-like protein. Nature Genet. 22, 94-97 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 94-97
    • Jeddeloh, J.A.1    Stokes, T.L.2    Richards, E.J.3
  • 76
    • 0028267714 scopus 로고
    • Expression of DNA methyltransferase gene in mature and immature neurons as well as proliferating cells in mice
    • Goto, K. et al. Expression of DNA methyltransferase gene in mature and immature neurons as well as proliferating cells in mice. Differentiation 56, 39-44 (1993).
    • (1993) Differentiation , vol.56 , pp. 39-44
    • Goto, K.1
  • 77
    • 0034193368 scopus 로고    scopus 로고
    • DNA methyltransferase contributes to delayed ischemic brain injury
    • Endres, M. et al. DNA methyltransferase contributes to delayed ischemic brain injury. J. Neurosci. 20, 3175-3181 (2000).
    • (2000) J. Neurosci. , vol.20 , pp. 3175-3181
    • Endres, M.1
  • 78
    • 0027989585 scopus 로고
    • ICF syndrome: A new case and review of the literature
    • Smeets, D. F. C. M. et al. ICF syndrome: a new case and review of the literature. Hum. Genet. 94, 240-246 (1994).
    • (1994) Hum. Genet. , vol.94 , pp. 240-246
    • Smeets, D.F.C.M.1
  • 79
    • 0029133507 scopus 로고
    • Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anamolies syndrome
    • Franceschini, P. et al. Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anamolies syndrome. Eur. J. Pediatr. 154, 840-846 (1995).
    • (1995) Eur. J. Pediatr. , vol.154 , pp. 840-846
    • Franceschini, P.1
  • 80
    • 0028354712 scopus 로고
    • Chromosomal localization of human satellites 2 and 3 by FISH method using oligonucleotides as probes
    • Tagarro, I., Fernandez-Peralta, A. M. & Gonzales-Aguilera, J. J. Chromosomal localization of human satellites 2 and 3 by FISH method using oligonucleotides as probes. Hum. Genet. 93, 383-388 (1994).
    • (1994) Hum. Genet. , vol.93 , pp. 383-388
    • Tagarro, I.1    Fernandez-Peralta, A.M.2    Gonzales-Aguilera, J.J.3
  • 81
    • 0027286618 scopus 로고
    • An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
    • Jeanpierre, M. et al. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum. Mol. Genet. 2, 731-735 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 731-735
    • Jeanpierre, M.1
  • 82
    • 0034162852 scopus 로고    scopus 로고
    • Whole-genome methylation scan in ICF syndrome: Hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
    • Kondo, T. et al. Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. Hum. Mol. Genet. 9, 597-604 (2000).
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 597-604
    • Kondo, T.1
  • 83
    • 0033547330 scopus 로고    scopus 로고
    • Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
    • Xu, G.-L. et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402, 187-191 (1999).
    • (1999) Nature , vol.402 , pp. 187-191
    • Xu, G.-L.1
  • 84
    • 0033435205 scopus 로고    scopus 로고
    • The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
    • Hansen, R. S. et al. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc. Natl Acad. Sci. USA 96, 14412-14417 (1999).
    • (1999) Proc. Natl Acad. Sci. USA , vol.96 , pp. 14412-14417
    • Hansen, R.S.1
  • 85
    • 0032769445 scopus 로고    scopus 로고
    • Cloning, expression and chromosome locations of the human DNMT3 gene famay
    • Xie, S. et al. Cloning, expression and chromosome locations of the human DNMT3 gene famay. Gene 236, 87-95 (1999). References 83-85 were the first to report that ICF syndrome is associated with mutations in the DNMT3B gene.
    • (1999) Gene , vol.236 , pp. 87-95
    • Xie, S.1
  • 86
    • 0032231449 scopus 로고    scopus 로고
    • Localization of the ICF syndrome to chromosome 20 by heterozygosity mapping
    • Wijmenga, C. et al. Localization of the ICF syndrome to chromosome 20 by heterozygosity mapping. Am. J. Hum. Genet. 63, 803-809 (1998).
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 803-809
    • Wijmenga, C.1
  • 87
    • 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. & 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).
    • (1983) Ann. Neurol. , vol.14 , pp. 471-479
    • Hagberg, B.1    Aicardi, J.2    Dias, K.3    Ramos, O.4
  • 88
    • 0033365401 scopus 로고    scopus 로고
    • Rett syndrome and beyond: Recurrent spontaneous familial MECP2 mutations at CpG hotspots
    • Wan, M. et al. Rett syndrome and beyond: recurrent spontaneous familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet. 65, 1520-1529 (2000).
    • (2000) Am. J. Hum. Genet. , vol.65 , pp. 1520-1529
    • Wan, M.1
  • 89
    • 0034691236 scopus 로고    scopus 로고
    • The effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
    • Ballestar, E., Yusufzai, T. M. & Wolffe, A. P. The effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. Biochemistry 39, 7100-7106 (2000).
    • (2000) Biochemistry , vol.39 , pp. 7100-7106
    • Ballestar, E.1    Yusufzai, T.M.2    Wolffe, A.P.3
  • 90
    • 0030071685 scopus 로고    scopus 로고
    • The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse
    • 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).
    • (1996) Nature Genet. , vol.12 , pp. 205-208
    • Tate, P.1    Skarnes, W.2    Bird, A.3
  • 91
    • 0032858910 scopus 로고    scopus 로고
    • Breaking the silence in Rett syndrome
    • Willard, H. F. & Hendrich, B. D. Breaking the silence in Rett syndrome. Nature Genet. 23, 127-128 (1999).
    • (1999) Nature Genet. , vol.23 , pp. 127-128
    • Willard, H.F.1    Hendrich, B.D.2
  • 92
    • 0029654106 scopus 로고
    • Transcriptional noise and the evolution of gene number
    • Bird, A. & Tweedie, S. Transcriptional noise and the evolution of gene number. Phil. Trans. R. Soc. Lond. 349, 249-253 (1995).
    • (1995) Phil. Trans. R. Soc. Lond. , vol.349 , pp. 249-253
    • Bird, A.1    Tweedie, S.2
  • 93
    • 0027514825 scopus 로고
    • Trinucleotide repeat expansions in neurological disease
    • Warren, S. T. & Nelson, D. L. Trinucleotide repeat expansions in neurological disease. Curr. Opin. Neurobiol. 3, 752-759 (1993).
    • (1993) Curr. Opin. Neurobiol. , vol.3 , pp. 752-759
    • Warren, S.T.1    Nelson, D.L.2
  • 94
    • 0025800165 scopus 로고
    • Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
    • Kremer, E. J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714 (1991).
    • (1991) Science , vol.252 , pp. 1711-1714
    • Kremer, E.J.1
  • 95
    • 0026339303 scopus 로고
    • Instability of a 550-base pair segment and abnormal methylation in Fragile X Syndrome
    • Oberle, I. et al. Instability of a 550-base pair segment and abnormal methylation in Fragile X Syndrome. Science 252, 1097-1102 (1991). References 94 and 95 were among the first to show that lack of expression of the FMR1 gene was associated with abnormal expansion and methylation of a trinucleotide repeat.
    • (1991) Science , vol.252 , pp. 1097-1102
    • Oberle, I.1
  • 96
    • 0032905253 scopus 로고    scopus 로고
    • Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells
    • Coffee, B., Zhang, F., Warren, S. T. & Reines, D. Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nature Genet. 22, 98-101 (1999).
    • (1999) Nature Genet. , vol.22 , pp. 98-101
    • Coffee, B.1    Zhang, F.2    Warren, S.T.3    Reines, D.4
  • 97
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the Fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu, Y. H. et al. Variation of the CGG repeat at the Fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67, 1047-1058 (1991).
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1
  • 98
    • 0028148342 scopus 로고
    • Hypermethylation of telomere-like foldbacks at codon 12 of the human c-Ha ras gene and the trinucleotide repeat of the FMR-1 gene of fragile X
    • Smith, S. S., Laayoun, A., Lingeman, R. G., Baker, D. J. & Riley, J. Hypermethylation of telomere-like foldbacks at codon 12 of the human c-Ha ras gene and the trinucleotide repeat of the FMR-1 gene of fragile X. J. Mol. Biol. 243, 143-151 (1994).
    • (1994) J. Mol. Biol. , vol.243 , pp. 143-151
    • Smith, S.S.1    Laayoun, A.2    Lingeman, R.G.3    Baker, D.J.4    Riley, J.5
  • 99
    • 0031310667 scopus 로고    scopus 로고
    • FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association
    • Feng, Y. et al. FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association. Mol. Cell 1, 109-118 (1997).
    • (1997) Mol. Cell , vol.1 , pp. 109-118
    • Feng, Y.1
  • 100
    • 0031792779 scopus 로고    scopus 로고
    • Identification and characterization of a family of mammalian methyl-CpG binding proteins
    • Hendrich, B. & Bird, A. Identification and characterization of a family of mammalian methyl-CpG binding proteins. Mol. Cell. Biol. 10, 6538-6547 (1998).
    • (1998) Mol. Cell. Biol. , vol.10 , pp. 6538-6547
    • Hendrich, B.1    Bird, A.2
  • 101
    • 0027377155 scopus 로고
    • High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome
    • Hornstra, I. K., Nelson, D. L., Warren, S. T. & Yang, T. P. High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum. Mol. Genet. 2, 1659-1665 (1993).
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1659-1665
    • Hornstra, I.K.1    Nelson, D.L.2    Warren, S.T.3    Yang, T.P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.