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Volumn 7, Issue 11, 1998, Pages 1795-1800

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; NUCLEAR PROTEIN;

EID: 0031686476     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.11.1795     Document Type: Article
Times cited : (74)

References (24)
  • 2
    • 0030070052 scopus 로고    scopus 로고
    • Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
    • Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet., 12, 130-136.
    • (1996) Nature Genet. , vol.12 , pp. 130-136
  • 3
    • 0029814274 scopus 로고    scopus 로고
    • Treacher Collins syndrome
    • Dixon, M.J. (1996) Treacher Collins syndrome. Hum. Mol. Genet., 5, 1391-1396.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1391-1396
    • Dixon, M.J.1
  • 4
    • 0029794933 scopus 로고    scopus 로고
    • Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce an in-frame termination codon into the gene
    • Gladwin, A.J., Dixon, J., Loftus, S.K., Edwards, S.J., Wasmuth, J.J., Hennekam, R.C.M. and Dixon, M.J. (1996) Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce an in-frame termination codon into the gene. Hum. Mol. Genet., 5, 1533-1538.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1533-1538
    • Gladwin, A.J.1    Dixon, J.2    Loftus, S.K.3    Edwards, S.J.4    Wasmuth, J.J.5    Hennekam, R.C.M.6    Dixon, M.J.7
  • 5
    • 0031038030 scopus 로고    scopus 로고
    • The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations which create a premature termination codon
    • Edwards, S.J., Gladwin, A.J. and Dixon, M.J. (1997) The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations which create a premature termination codon. Am. J. Hum. Genet., 60, 515-524.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 515-524
    • Edwards, S.J.1    Gladwin, A.J.2    Dixon, M.J.3
  • 6
    • 0030903167 scopus 로고    scopus 로고
    • Identification of the complete coding sequence and genomic organisation of the Treacher Collins syndrome gene
    • Dixon, J., Edwards, S.J., Anderson, I., Brass, A., Scambler, P.J. and Dixon, M.J. (1997) Identification of the complete coding sequence and genomic organisation of the Treacher Collins syndrome gene. Genome Res., 7, 223-234.
    • (1997) Genome Res. , vol.7 , pp. 223-234
    • Dixon, J.1    Edwards, S.J.2    Anderson, I.3    Brass, A.4    Scambler, P.J.5    Dixon, M.J.6
  • 7
    • 0030995546 scopus 로고    scopus 로고
    • TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region
    • Wise, C.A., Chiang, L.C., Paznekas, W.A., Sharma, M., Musy, M.M., Ashley, J.A., Lovett, M. and Jabs, E.W. (1997) TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc. Natl Acad. Sci. USA, 94, 3110-3115.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 3110-3115
    • Wise, C.A.1    Chiang, L.C.2    Paznekas, W.A.3    Sharma, M.4    Musy, M.M.5    Ashley, J.A.6    Lovett, M.7    Jabs, E.W.8
  • 8
    • 0023645087 scopus 로고
    • Substrate specificity determinants for casein kinase II as deduced from studies with synthetic peptides
    • Kuenzel, E.A., Mulligan, J.A., Sommercorn, J. and Krebs, E.G. (1987) Substrate specificity determinants for casein kinase II as deduced from studies with synthetic peptides. J. Biol. Chem., 262, 9136-9140.
    • (1987) J. Biol. Chem. , vol.262 , pp. 9136-9140
    • Kuenzel, E.A.1    Mulligan, J.A.2    Sommercorn, J.3    Krebs, E.G.4
  • 9
    • 0025949412 scopus 로고
    • Nuclear targeting sequences - A consensus?
    • Dingwall, C. and Laskey, R. (1991) Nuclear targeting sequences - a consensus? Trends Biochem. Sci., 16, 478-481.
    • (1991) Trends Biochem. Sci. , vol.16 , pp. 478-481
    • Dingwall, C.1    Laskey, R.2
  • 10
    • 0024411243 scopus 로고
    • Sequence requirements for synthetic peptide-mediated translocation to the nucleus
    • Chelsky, D., Ralph, R. and Jonak, G. (1989) Sequence requirements for synthetic peptide-mediated translocation to the nucleus. Mol. Cell. Biol., 9, 2487-2492.
    • (1989) Mol. Cell. Biol. , vol.9 , pp. 2487-2492
    • Chelsky, D.1    Ralph, R.2    Jonak, G.3
  • 11
    • 0024966024 scopus 로고
    • Major nucleolar proteins shuttle between nucleus and cytoplasm
    • Borer, R.A., Lehner, C.F., Eppenberger, H.M. and Nigg, E.A. (1989) Major nucleolar proteins shuttle between nucleus and cytoplasm. Cell, 56, 379-390.
    • (1989) Cell , vol.56 , pp. 379-390
    • Borer, R.A.1    Lehner, C.F.2    Eppenberger, H.M.3    Nigg, E.A.4
  • 12
    • 0026773097 scopus 로고
    • Nopp140 shuttles on tracks between nucleolus and cytoplasm
    • Meier, U.T. and Blobel, G. (1992) Nopp140 shuttles on tracks between nucleolus and cytoplasm. Cell, 70, 127-138.
    • (1992) Cell , vol.70 , pp. 127-138
    • Meier, U.T.1    Blobel, G.2
  • 13
    • 0029050553 scopus 로고
    • Cell cycle-dependent alterations of a highly phosphorylated nucleolar protein p130 are associated with nucleologenesis
    • Pai, C-Y., Chen, H.-K., Sheu, H.-L. and Yeh, N.-H. (1995) Cell cycle-dependent alterations of a highly phosphorylated nucleolar protein p130 are associated with nucleologenesis. J. Cell Sci., 108, 1911-1920.
    • (1995) J. Cell Sci. , vol.108 , pp. 1911-1920
    • Pai, C.-Y.1    Chen, H.-K.2    Sheu, H.-L.3    Yeh, N.-H.4
  • 14
    • 0029084987 scopus 로고
    • Identification and cDNA cloning of a Xenopus nucleolar phosphoprotein, xNopp180, that is the homolog of the rat nucleolar protein Nopp140
    • Cairns, C. and McStay, B. (1995) Identification and cDNA cloning of a Xenopus nucleolar phosphoprotein, xNopp180, that is the homolog of the rat nucleolar protein Nopp140. J. Cell Sci., 108, 3339-3347.
    • (1995) J. Cell Sci. , vol.108 , pp. 3339-3347
    • Cairns, C.1    McStay, B.2
  • 15
    • 0029776366 scopus 로고    scopus 로고
    • Comparison of the rat nucleolar protein Nopp 140 with its yeast homolog SRP40
    • Meier, U.T. (1996) Comparison of the rat nucleolar protein Nopp 140 with its yeast homolog SRP40. J. Biol. Chem., 271, 19376-19384.
    • (1996) J. Biol. Chem. , vol.271 , pp. 19376-19384
    • Meier, U.T.1
  • 16
    • 0030940878 scopus 로고    scopus 로고
    • Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1
    • Dixon, J., Hovanes, K., Shiang, R. and Dixon, M.J. (1997) Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum. Mol. Genet., 6, 727-737.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 727-737
    • Dixon, J.1    Hovanes, K.2    Shiang, R.3    Dixon, M.J.4
  • 17
    • 0342446581 scopus 로고
    • Nucleolin, the major nucleolar protein of growing eukaryotic cells: An unusual protein structure revealed by the nucleotide sequence
    • Lapeyre, B., Bourbon, H. and Amalric, F. (1987) Nucleolin, the major nucleolar protein of growing eukaryotic cells: an unusual protein structure revealed by the nucleotide sequence. Proc. Natl Acad. Sci. USA, 84, 1472-1476.
    • (1987) Proc. Natl Acad. Sci. USA , vol.84 , pp. 1472-1476
    • Lapeyre, B.1    Bourbon, H.2    Amalric, F.3
  • 18
    • 0025023112 scopus 로고
    • Functional and dynamic aspects of the mammalian nucleolus
    • Scheer, U. and Benavente, R. (1990) Functional and dynamic aspects of the mammalian nucleolus. BioEssays, 12, 14-21.
    • (1990) BioEssays , vol.12 , pp. 14-21
    • Scheer, U.1    Benavente, R.2
  • 19
    • 0025395808 scopus 로고
    • Discovery of the nucleolar targeting signal
    • Hatanaka, M. (1990) Discovery of the nucleolar targeting signal. BioEssays, 12, 143-148.
    • (1990) BioEssays , vol.12 , pp. 143-148
    • Hatanaka, M.1
  • 20
    • 0027941844 scopus 로고
    • Identification of the nucleolar targeting signal of human angiogenin
    • Moroianu, J. and Riordan, J.F. (1994) Identification of the nucleolar targeting signal of human angiogenin. Biochem. Biophys. Res. Commun., 203, 1765-1772.
    • (1994) Biochem. Biophys. Res. Commun. , vol.203 , pp. 1765-1772
    • Moroianu, J.1    Riordan, J.F.2
  • 21
    • 0027297369 scopus 로고
    • Protein localization to the nucleolus: A search for targeting domains in nucleolin
    • Schmidt-Zachmann, M.S. and Nigg, E.A. (1993) Protein localization to the nucleolus: a search for targeting domains in nucleolin. J. Cell Sci., 105, 799-806.
    • (1993) J. Cell Sci. , vol.105 , pp. 799-806
    • Schmidt-Zachmann, M.S.1    Nigg, E.A.2
  • 22
    • 0029984570 scopus 로고    scopus 로고
    • Nucleocytoplasmic transport
    • Gorlich, D. and Mattaj, I.W. (1996) Nucleocytoplasmic transport. Science, 271, 1513-1518.
    • (1996) Science , vol.271 , pp. 1513-1518
    • Gorlich, D.1    Mattaj, I.W.2
  • 23
    • 0027376308 scopus 로고
    • The GTP-binding protein Ran/TC4 is required for protein import into the nucleus
    • Moore, M.S. and Blobel, G. (1993) The GTP-binding protein Ran/TC4 is required for protein import into the nucleus. Nature, 365, 661-663.
    • (1993) Nature , vol.365 , pp. 661-663
    • Moore, M.S.1    Blobel, G.2
  • 24
    • 0027177717 scopus 로고
    • Nonsense mutations and diminished mRNA levels
    • McIntosh, I., Hamosh, A. and Dietz, H.C. (1993) Nonsense mutations and diminished mRNA levels. Nature Genet., 4, 219.
    • (1993) Nature Genet. , vol.4 , pp. 219
    • McIntosh, I.1    Hamosh, A.2    Dietz, H.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.