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Volumn 9, Issue 6, 2010, Pages 411-418

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients

Author keywords

CFTR; Cystic fibrosis; MRNA; Pseudo exon; Splicing

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 78650224343     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2010.08.009     Document Type: Article
Times cited : (15)

References (27)
  • 1
    • 33845933518 scopus 로고    scopus 로고
    • ECFS CF Neonatal Screening Working Group. A survey of newborn screening for cystic fibrosis in Europe
    • Southern K.W., Munck A., Pollitt R., Travert G., Zanolla L., Dankert-Roelse J., et al. ECFS CF Neonatal Screening Working Group. A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007, 6(1):57-65.
    • (2007) J Cyst Fibros , vol.6 , Issue.1 , pp. 57-65
    • Southern, K.W.1    Munck, A.2    Pollitt, R.3    Travert, G.4    Zanolla, L.5    Dankert-Roelse, J.6
  • 2
    • 71049130202 scopus 로고    scopus 로고
    • Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Faà V., Incani F., Meloni A., Corda D., Masala M., Baffico A.M., et al. Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. J Biol Chem 2009, 284:30024-30031.
    • (2009) J Biol Chem , vol.284 , pp. 30024-30031
    • Faà, V.1    Incani, F.2    Meloni, A.3    Corda, D.4    Masala, M.5    Baffico, A.M.6
  • 4
    • 34547830368 scopus 로고    scopus 로고
    • SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer
    • Buratti E., Stuani C., De Prato G., Baralle F.E. SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer. Nucleic Acids Res 2007, 35:4359-4368.
    • (2007) Nucleic Acids Res , vol.35 , pp. 4359-4368
    • Buratti, E.1    Stuani, C.2    De Prato, G.3    Baralle, F.E.4
  • 5
    • 22344439658 scopus 로고    scopus 로고
    • Dichotomous splicing signals in exon flanks
    • Zhang X.H., Leslie C.S., Chasin L.A. Dichotomous splicing signals in exon flanks. Genome Res 2000, 15:768-779.
    • (2000) Genome Res , vol.15 , pp. 768-779
    • Zhang, X.H.1    Leslie, C.S.2    Chasin, L.A.3
  • 6
    • 0033846543 scopus 로고    scopus 로고
    • Multiple splicing defects in an intronic false exon
    • Sun H., Chasin L.A. Multiple splicing defects in an intronic false exon. Mol Cell Biol 2000, 20:6414-6425.
    • (2000) Mol Cell Biol , vol.20 , pp. 6414-6425
    • Sun, H.1    Chasin, L.A.2
  • 7
    • 0024299506 scopus 로고    scopus 로고
    • Effects of RNA secondary structure on alternative splicing of pre-mRNA: is folding limited to a region behind the transcribing RNA polymerase?
    • Eperon L.P., Graham I.R., Griffiths A.D., Eperon I.C. Effects of RNA secondary structure on alternative splicing of pre-mRNA: is folding limited to a region behind the transcribing RNA polymerase?. Cell 1998, 54:393-401.
    • (1998) Cell , vol.54 , pp. 393-401
    • Eperon, L.P.1    Graham, I.R.2    Griffiths, A.D.3    Eperon, I.C.4
  • 8
    • 0036201584 scopus 로고    scopus 로고
    • Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype
    • Ishii S., Nakao S., Minamikawa-Tachino R., Desnick R.J., Fan J.Q. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet 2002, 70:994-1002.
    • (2002) Am J Hum Genet , vol.70 , pp. 994-1002
    • Ishii, S.1    Nakao, S.2    Minamikawa-Tachino, R.3    Desnick, R.J.4    Fan, J.Q.5
  • 9
    • 33746855164 scopus 로고    scopus 로고
    • Defective splicing, disease and therapy: searching for master checkpoints in exon definition
    • Buratti E., Baralle M., Baralle F.E. Defective splicing, disease and therapy: searching for master checkpoints in exon definition. Nucleic Acids Res 2006, 34:3494-3510.
    • (2006) Nucleic Acids Res , vol.34 , pp. 3494-3510
    • Buratti, E.1    Baralle, M.2    Baralle, F.E.3
  • 11
    • 0028086056 scopus 로고
    • A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
    • Highsmith W.E., Burch L.H., Zhou Z., Olsen J.C., Boat T.E., Spock A., et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994, 331:974-980.
    • (1994) N Engl J Med , vol.331 , pp. 974-980
    • Highsmith, W.E.1    Burch, L.H.2    Zhou, Z.3    Olsen, J.C.4    Boat, T.E.5    Spock, A.6
  • 12
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
    • Krawczak M., Reiss J., Cooper D.N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992, 90:41-54.
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 17
    • 0035663441 scopus 로고    scopus 로고
    • Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness
    • Liu X.Z., Xia X.J., Adams J., Chen Z.Y., Welch K.O., Tekin M., et al. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet 2001, 10(25):2945-2951.
    • (2001) Hum Mol Genet , vol.10 , Issue.25 , pp. 2945-2951
    • Liu, X.Z.1    Xia, X.J.2    Adams, J.3    Chen, Z.Y.4    Welch, K.O.5    Tekin, M.6
  • 18
    • 40749100707 scopus 로고    scopus 로고
    • Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions
    • Paracchini V., Seia M., Coviello D., Porcaro L., Costantino L., Capasso P., et al. Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions. Clin Genet 2008, 73:346-352.
    • (2008) Clin Genet , vol.73 , pp. 346-352
    • Paracchini, V.1    Seia, M.2    Coviello, D.3    Porcaro, L.4    Costantino, L.5    Capasso, P.6
  • 19
    • 33748608530 scopus 로고    scopus 로고
    • A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening
    • Faà V., Bettoli P.P., Demurtas M., Zanda M., Ferri V., Cao A., et al. A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening. J Mol Diagn 2006, 8:499-503.
    • (2006) J Mol Diagn , vol.8 , pp. 499-503
    • Faà, V.1    Bettoli, P.P.2    Demurtas, M.3    Zanda, M.4    Ferri, V.5    Cao, A.6
  • 20
    • 59649124310 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay (NMD) mechanisms
    • Brogna S., Wen J. Nonsense-mediated mRNA decay (NMD) mechanisms. Nat Struct Mol Biol 2009, 16(2):107-113.
    • (2009) Nat Struct Mol Biol , vol.16 , Issue.2 , pp. 107-113
    • Brogna, S.1    Wen, J.2
  • 21
    • 0034647916 scopus 로고    scopus 로고
    • Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a non-evolutionary conserved intronic element
    • Pagani F., Buratti E., Stuani C., Romano M., Zuccato E., Niksic M., et al. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a non-evolutionary conserved intronic element. J Biol Chem 2000, 275:21041-21047.
    • (2000) J Biol Chem , vol.275 , pp. 21041-21047
    • Pagani, F.1    Buratti, E.2    Stuani, C.3    Romano, M.4    Zuccato, E.5    Niksic, M.6
  • 22
    • 0035794665 scopus 로고    scopus 로고
    • Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
    • Buratti E., Dörk T., Zuccato E., Pagani F., Romano M., Baralle F.E. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J 2001, 20:1774-1784.
    • (2001) EMBO J , vol.20 , pp. 1774-1784
    • Buratti, E.1    Dörk, T.2    Zuccato, E.3    Pagani, F.4    Romano, M.5    Baralle, F.E.6
  • 23
    • 3442898752 scopus 로고    scopus 로고
    • The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in non mutated CFTR alleles
    • Steiner B., Truninger K., Sanz J., Schaller A., Gallati S. The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in non mutated CFTR alleles. Hum Mutat 2004, 24:120-129.
    • (2004) Hum Mutat , vol.24 , pp. 120-129
    • Steiner, B.1    Truninger, K.2    Sanz, J.3    Schaller, A.4    Gallati, S.5
  • 24
    • 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 2000, 6:1197-1211.
    • (2000) RNA , vol.6 , pp. 1197-1211
    • Graveley, B.R.1
  • 25
    • 2342443734 scopus 로고    scopus 로고
    • An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing
    • Zuccato E., Buratti E., Stuani C., Baralle F.E., Pagani F. An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J Biol Chem 2004, 279:16980-16988.
    • (2004) J Biol Chem , vol.279 , pp. 16980-16988
    • Zuccato, E.1    Buratti, E.2    Stuani, C.3    Baralle, F.E.4    Pagani, F.5
  • 26
    • 0027502580 scopus 로고
    • Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA
    • Chu C.S., Trapnell B.C., Curristin S., Cutting G.R., Crystal R.G. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993, 3:151-156.
    • (1993) Nat Genet , vol.3 , pp. 151-156
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.3    Cutting, G.R.4    Crystal, R.G.5
  • 27
    • 2442676753 scopus 로고    scopus 로고
    • Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance
    • Buratti E., Brindisi A., Pagani F., Basile F.E. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am J Hum Genet 2004, 74:1322-1325.
    • (2004) Am J Hum Genet , vol.74 , pp. 1322-1325
    • Buratti, E.1    Brindisi, A.2    Pagani, F.3    Basile, F.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.