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Volumn 402, Issue 6758, 1999, Pages 187-191

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE;

EID: 0033547330     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/46052     Document Type: Article
Times cited : (1018)

References (29)
  • 1
    • 0023848337 scopus 로고
    • Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies; the ICF syndrome
    • Maraschio, P., Zuffardi, O., Dalla Fior, T. & Tieplo, L. Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies; the ICF syndrome. J. Med. Genet. 25, 173-180 (1988).
    • (1988) J. Med. Genet. , vol.25 , pp. 173-180
    • Maraschio, P.1    Zuffardi, O.2    Dalla Fior, T.3    Tieplo, L.4
  • 2
    • 0000038810 scopus 로고
    • Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency
    • Hulten, M. Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency. Clin. Genet. 14, 294 (1978).
    • (1978) Clin. Genet. , vol.14 , pp. 294
    • Hulten, M.1
  • 3
    • 0007325214 scopus 로고
    • Concurrent instability at specific sites of chromosomes 1, 9, and 16 resulting in multibranched chromosomes
    • Tieplo, L. et al. Concurrent instability at specific sites of chromosomes 1, 9, and 16 resulting in multibranched chromosomes. Clin. Genet. 14, 313-314 (1978).
    • (1978) Clin. Genet. , vol.14 , pp. 313-314
    • Tieplo, L.1
  • 4
    • 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
  • 5
    • 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
  • 6
    • 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
  • 7
    • 0031688264 scopus 로고    scopus 로고
    • A FISH study of chromosome fusion in the ICF syndrome: Involvement of paracentric heterochromatin but not of the centromeres themselves
    • Sumner, A. T., Mitchell, A. R. & Ellis, P. M. A FISH study of chromosome fusion in the ICF syndrome: involvement of paracentric heterochromatin but not of the centromeres themselves. J. Med. Genet. 35, 833-835 (1998).
    • (1998) J. Med. Genet. , vol.35 , pp. 833-835
    • Sumner, A.T.1    Mitchell, A.R.2    Ellis, P.M.3
  • 9
    • 32244435287 scopus 로고
    • Localization of 5-methylcytosine in human metaphase chromosomes by immunoelectron microscopy
    • Lubit, B. W., Pham, T. D., Miller, O. J. & Erlanger, B. F. Localization of 5-methylcytosine in human metaphase chromosomes by immunoelectron microscopy. Cell 9, 503-509 (1976).
    • (1976) Cell , vol.9 , pp. 503-509
    • Lubit, B.W.1    Pham, T.D.2    Miller, O.J.3    Erlanger, B.F.4
  • 10
    • 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
  • 11
    • 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
  • 12
    • 0033053654 scopus 로고    scopus 로고
    • Abnormal methylation does not prevent X inactivation in ICF patients
    • Bourc'his, D. et al. Abnormal methylation does not prevent X inactivation in ICF patients. Cytogenet. Cell Genet. 84, 245-252 (1999).
    • (1999) Cytogenet. Cell Genet. , vol.84 , pp. 245-252
    • Bourc'his, D.1
  • 13
    • 0032231449 scopus 로고    scopus 로고
    • Localization of the ICF syndrome to chromosome 20 by homozygosity mapping
    • Wijmenga, C. et al. Localization of the ICF syndrome to chromosome 20 by homozygosity mapping. Am. I. Hum. Genet. 63, 803-809 (1998).
    • (1998) Am. I. Hum. Genet. , vol.63 , pp. 803-809
    • Wijmenga, C.1
  • 14
    • 0028829566 scopus 로고
    • DNA, FISH and complementation studies in ICF syndrome: DNa hypomethylation of repetitive and single copy loci and evidence for a trans acting factor
    • Schuffenhauer, S. et al. DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor. Hum. Genet. 96, 562-571 (1995).
    • (1995) Hum. Genet. , vol.96 , pp. 562-571
    • Schuffenhauer, S.1
  • 15
    • 0031256078 scopus 로고    scopus 로고
    • Pieces of the puzzle: Expressed sequence tags and the catalog of human genes
    • Schuler, G. D. Pieces of the puzzle: expressed sequence tags and the catalog of human genes. J. Mol. Med. 75, 694-698 (1997).
    • (1997) J. Mol. Med. , vol.75 , pp. 694-698
    • Schuler, G.D.1
  • 16
    • 0016439429 scopus 로고
    • DNA modification mechanisms and gene activity during development
    • Holliday, R. & Pugh, J. DNA modification mechanisms and gene activity during development. Science 187, 226-232 (1975).
    • (1975) Science , vol.187 , pp. 226-232
    • Holliday, R.1    Pugh, J.2
  • 17
    • 0024604147 scopus 로고
    • Predictive motifs derived from cytosine methyltransferases
    • Posfai, J., Bhagwat, A. S., Posfai, G. & Roberts, R. J. Predictive motifs derived from cytosine methyltransferases. Nucleic Acids Res. 17, 2421-2435 (1989).
    • (1989) Nucleic Acids Res. , vol.17 , pp. 2421-2435
    • Posfai, J.1    Bhagwat, A.S.2    Posfai, G.3    Roberts, R.J.4
  • 18
    • 0024582758 scopus 로고
    • Cytosine-specific type II DNA methyltransferases. A conserved enzyme core with variable target-recognition domains
    • Lauster, R., Trautner, T. A. & Noyer-Weidner, M. Cytosine-specific type II DNA methyltransferases. A conserved enzyme core with variable target-recognition domains. J. Mol. Biol. 206, 305-312 (1989).
    • (1989) J. Mol. Biol. , vol.206 , pp. 305-312
    • Lauster, R.1    Trautner, T.A.2    Noyer-Weidner, M.3
  • 19
    • 0028010888 scopus 로고
    • HhaI methyltransferase flips its target base out of the DNA helix
    • Klimasauskas, S., Kumar, S., Roberts, R. J. & Cheng, S. HhaI methyltransferase flips its target base out of the DNA helix. Cell 76, 357-369 (1994).
    • (1994) Cell , vol.76 , pp. 357-369
    • Klimasauskas, S.1    Kumar, S.2    Roberts, R.J.3    Cheng, S.4
  • 20
    • 0028939603 scopus 로고
    • Mutations in a putative global transcriptional regulator cause X-linked mental retardation with athalassemia (ATR-X syndrome)
    • Gibbons, R. J., Picketts, D. J., Villard, L. & Higgs, D. R. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with athalassemia (ATR-X syndrome). Cell 80, 837-845 (1995).
    • (1995) Cell , vol.80 , pp. 837-845
    • Gibbons, R.J.1    Picketts, D.J.2    Villard, L.3    Higgs, D.R.4
  • 21
    • 0031779421 scopus 로고    scopus 로고
    • WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma
    • Stec, I. et al. WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum. Mol Genet. 7, 1071-1082 (1998).
    • (1998) Hum. Mol Genet. , vol.7 , pp. 1071-1082
    • Stec, I.1
  • 22
    • 0028650742 scopus 로고
    • Human satellites 2 and 3
    • Jeanpierre, M. Human satellites 2 and 3. Ann. Genet. 37, 163-171 (1994).
    • (1994) Ann. Genet. , vol.37 , pp. 163-171
    • Jeanpierre, M.1
  • 23
    • 0033499867 scopus 로고    scopus 로고
    • In vivo activity of murine de novo methyltransferases, Dnmt3a and Dnmt3b
    • in the press
    • Hsieh, C.-L. In vivo activity of murine de novo methyltransferases, Dnmt3a and Dnmt3b. Mol. Cell. Biol. (in the press).
    • Mol. Cell. Biol.
    • Hsieh, C.-L.1
  • 24
    • 0032907728 scopus 로고    scopus 로고
    • Maintenance of genomic methylation requires a SWI2/ SNF2-like protein
    • Jeddeloh, J. A., Stokes, T. L. & Richards, E. 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.3
  • 25
    • 0031437119 scopus 로고    scopus 로고
    • Association of transcriptionally silent genes with Ikaros complexes at contromeric heterochromatin
    • Brown, K. E. et al. Association of transcriptionally silent genes with Ikaros complexes at contromeric heterochromatin. Cell 91, 845-854 (1997).
    • (1997) Cell , vol.91 , pp. 845-854
    • Brown, K.E.1
  • 27
    • 0031638515 scopus 로고    scopus 로고
    • The host defence function of genomic methylation patterns
    • Bestor, T. H. The host defence function of genomic methylation patterns. Novartis Found. Symp. 214, 187-195 (1998).
    • (1998) Novartis Found. Symp. , vol.214 , pp. 187-195
    • Bestor, T.H.1
  • 28
    • 0028106737 scopus 로고
    • Dependence of transcriptional repression on CpG methylation density
    • Hsieh, C.-L. Dependence of transcriptional repression on CpG methylation density. Mol. Cell. Biol. 14, 5487-5494 (1994).
    • (1994) Mol. Cell. Biol. , vol.14 , pp. 5487-5494
    • Hsieh, C.-L.1
  • 29
    • 0026507884 scopus 로고
    • Monitoring of urinary excretion of modified nucleosides in cancer patients using a set of six monoclonal antibodies
    • Reynaud, C. et al. Monitoring of urinary excretion of modified nucleosides in cancer patients using a set of six monoclonal antibodies. Cancer Lett. 61, 255-262 (1992).
    • (1992) Cancer Lett. , vol.61 , pp. 255-262
    • Reynaud, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.