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Volumn 582, Issue 15, 2008, Pages 2231-2236

The pathological splicing mutation c.6792C > G in NF1 exon 37 causes a change of tenancy between antagonistic splicing factors

Author keywords

DAZAP1; Exonic splicing enhancers; Exonic splicing silencers; hnRNPA1; hnRNPA2; NF1; YB 1

Indexed keywords

DELETED IN AZOOSPERMIA ASSOCIATED PROTEIN 1; NEUROFIBROMIN; RIBONUCLEOPROTEIN; RNA BINDING PROTEIN;

EID: 44749089526     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2008.05.018     Document Type: Article
Times cited : (31)

References (16)
  • 1
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: exonic mutations that affect splicing
    • Cartegni L., Chew S.L., and Krainer A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 3 (2002) 285-298
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 2
    • 34548758543 scopus 로고    scopus 로고
    • Splicing in disease: disruption of the splicing code and the decoding machinery
    • Wang G.S., and Cooper T.A. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat. Rev. Genet. 8 (2007) 749-761
    • (2007) Nat. Rev. Genet. , vol.8 , pp. 749-761
    • Wang, G.S.1    Cooper, T.A.2
  • 3
    • 0033835333 scopus 로고    scopus 로고
    • Sorting out the complexity of SR protein functions
    • Graveley B.R. Sorting out the complexity of SR protein functions. RNA 6 (2000) 1197-1211
    • (2000) RNA , vol.6 , pp. 1197-1211
    • Graveley, B.R.1
  • 4
    • 0035898616 scopus 로고    scopus 로고
    • The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4
    • Stickeler E., Fraser S.D., Honig A., Chen A.L., Berget S.M., and Cooper T.A. The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4. EMBO J. 20 (2001) 3821-3830
    • (2001) EMBO J. , vol.20 , pp. 3821-3830
    • Stickeler, E.1    Fraser, S.D.2    Honig, A.3    Chen, A.L.4    Berget, S.M.5    Cooper, T.A.6
  • 5
    • 0036318541 scopus 로고    scopus 로고
    • Regulation of alternative splicing by the ATP-dependent DEAD-box RNA helicase p72
    • Honig A., Auboeuf D., Parker M.M., O'Malley B.W., and Berget S.M. Regulation of alternative splicing by the ATP-dependent DEAD-box RNA helicase p72. Mol. Cell Biol. 22 (2002) 5698-5707
    • (2002) Mol. Cell Biol. , vol.22 , pp. 5698-5707
    • Honig, A.1    Auboeuf, D.2    Parker, M.M.3    O'Malley, B.W.4    Berget, S.M.5
  • 6
    • 0036534129 scopus 로고    scopus 로고
    • Alternative splicing: multiple control mechanisms and involvement in human disease
    • Caceres J.F., and Kornblihtt A.R. Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet. 18 (2002) 186-193
    • (2002) Trends Genet. , vol.18 , pp. 186-193
    • Caceres, J.F.1    Kornblihtt, A.R.2
  • 7
    • 0038265106 scopus 로고    scopus 로고
    • Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?
    • discussion 233-234
    • Buratti E., Baralle F.E., and Pagani F. Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?. Trends Mol. Med. 9 (2003) 229-232 discussion 233-234
    • (2003) Trends Mol. Med. , vol.9 , pp. 229-232
    • Buratti, E.1    Baralle, F.E.2    Pagani, F.3
  • 8
    • 0031439698 scopus 로고    scopus 로고
    • Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene
    • Messiaen L., Callens T., De Paepe A., Craen M., and Mortier G. Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene. Hum. Genet. 101 (1997) 75-80
    • (1997) Hum. Genet. , vol.101 , pp. 75-80
    • Messiaen, L.1    Callens, T.2    De Paepe, A.3    Craen, M.4    Mortier, G.5
  • 9
    • 33746354005 scopus 로고    scopus 로고
    • NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region
    • Baralle M., et al. NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett. 580 (2006) 4449-4456
    • (2006) FEBS Lett. , vol.580 , pp. 4449-4456
    • Baralle, M.1
  • 10
    • 1642458353 scopus 로고    scopus 로고
    • RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon
    • Buratti E., Muro A.F., Giombi M., Gherbassi D., Iaconcig A., and Baralle F.E. RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon. Mol. Cell Biol. 24 (2004) 1387-1400
    • (2004) Mol. Cell Biol. , vol.24 , pp. 1387-1400
    • Buratti, E.1    Muro, A.F.2    Giombi, M.3    Gherbassi, D.4    Iaconcig, A.5    Baralle, F.E.6
  • 11
    • 0028215301 scopus 로고
    • RNA binding specificity of hnRNP A1: significance of hnRNP A1 high-affinity binding sites in pre-mRNA splicing
    • Burd C.G., and Dreyfuss G. RNA binding specificity of hnRNP A1: significance of hnRNP A1 high-affinity binding sites in pre-mRNA splicing. EMBO J. 13 (1994) 1197-1204
    • (1994) EMBO J. , vol.13 , pp. 1197-1204
    • Burd, C.G.1    Dreyfuss, G.2
  • 12
    • 0034192841 scopus 로고    scopus 로고
    • Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1
    • Tsui S., Dai T., Roettger S., Schempp W., Salido E.C., and Yen P.H. Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1. Genomics 65 (2000) 266-273
    • (2000) Genomics , vol.65 , pp. 266-273
    • Tsui, S.1    Dai, T.2    Roettger, S.3    Schempp, W.4    Salido, E.C.5    Yen, P.H.6
  • 13
    • 0034599949 scopus 로고    scopus 로고
    • Functional characterization of SR and SR-related genes in Caenorhabditis elegans
    • Longman D., Johnstone I.L., and Caceres J.F. Functional characterization of SR and SR-related genes in Caenorhabditis elegans. EMBO J. 19 (2000) 1625-1637
    • (2000) EMBO J. , vol.19 , pp. 1625-1637
    • Longman, D.1    Johnstone, I.L.2    Caceres, J.F.3
  • 14
    • 44349135730 scopus 로고    scopus 로고
    • Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant
    • Goina E., Skoko N., and Pagani F. Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. Mol. Cell Biol. 28 (2008) 3850-3860
    • (2008) Mol. Cell Biol. , vol.28 , pp. 3850-3860
    • Goina, E.1    Skoko, N.2    Pagani, F.3
  • 15
    • 12444329819 scopus 로고    scopus 로고
    • Vertebrate 2xRBD hnRNP proteins: a comparative analysis of genome, mRNA and protein sequences
    • Akindahunsi A.A., Bandiera A., and Manzini G. Vertebrate 2xRBD hnRNP proteins: a comparative analysis of genome, mRNA and protein sequences. Comput. Biol. Chem. 29 (2005) 13-23
    • (2005) Comput. Biol. Chem. , vol.29 , pp. 13-23
    • Akindahunsi, A.A.1    Bandiera, A.2    Manzini, G.3
  • 16
    • 36248987806 scopus 로고    scopus 로고
    • hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing
    • Kashima T., Rao N., David C.J., and Manley J.L. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum. Mol. Genet. 16 (2007) 3149-3159
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 3149-3159
    • Kashima, T.1    Rao, N.2    David, C.J.3    Manley, J.L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.