메뉴 건너뛰기




Volumn 10, Issue 4, 1995, Pages 445-452

Generation and characterization of a ΔF508 cystic fibrosis mouse model

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0029153220     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0895-445     Document Type: Article
Times cited : (193)

References (43)
  • 3
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: Cloning and characterisation of complementary DMA
    • Riordan, J. R. et al. Identification of the cystic fibrosis gene: cloning and characterisation of complementary DMA. Science 245, 1066-1072 (1989).
    • (1989) Science , vol.245 , pp. 1066-1072
    • Riordan, J.R.1
  • 4
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem, B.-S. et al. Identification of the cystic fibrosis gene: genetic analysis. Science 245, 1073-1080 (1989).
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.-S.1
  • 5
    • 0025868103 scopus 로고
    • Demonstration that CFTR is a chloride channel by alteration of its anion selectivity
    • Anderson, M. P. et al. Demonstration that CFTR is a chloride channel by alteration of its anion selectivity. Science 253, 202-205 (1991).
    • (1991) Science , vol.253 , pp. 202-205
    • Anderson, M.P.1
  • 6
    • 0026532895 scopus 로고
    • Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)
    • Bear, C. E. et al. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell 68, 809-818 (1992).
    • (1992) Cell , vol.68 , pp. 809-818
    • Bear, C.E.1
  • 7
    • 0010484763 scopus 로고
    • Mutation analysis in cystic fibrosis
    • (eds Dodge, J.A., Brock, D.J.H., Widdicombe, J.H.) (John Wiley & Sons Ltd, Chichester
    • Tsui, L.-C., Markiewicz, D., Zielenski, J., Corey, M. & Durie, P. Mutation analysis in cystic fibrosis. in Cystic Fibrosis: Current Topics Vol. 1, (eds Dodge, J. A., Brock, D. J. H., Widdicombe, J. H.) 27-44 (John Wiley & Sons Ltd, Chichester, 1993).
    • (1993) Cystic Fibrosis: Current Topics , vol.1 , pp. 27-44
    • Tsui, L.-C.1    Markiewicz, D.2    Zielenski, J.3    Corey, M.4    Durie, P.5
  • 8
    • 0026649122 scopus 로고
    • An animal model for cystic fibrosis made by gene targeting
    • Snouwaert, J. N. et al. An animal model for cystic fibrosis made by gene targeting. Science 257, 1083-1088 (1992).
    • (1992) Science , vol.257 , pp. 1083-1088
    • Snouwaert, J.N.1
  • 9
    • 0026640380 scopus 로고
    • Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis
    • Clarke, L. L. et al. Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis. Science 257, 1125-1128 (1992).
    • (1992) Science , vol.257 , pp. 1125-1128
    • Clarke, L.L.1
  • 10
    • 0026730466 scopus 로고
    • Cystic fibrosis in the mouse by targeted insertional mutagenesis
    • Dorin, J. R. et al. Cystic fibrosis in the mouse by targeted insertional mutagenesis. Nature 359, 211-215 (1992).
    • (1992) Nature , vol.359 , pp. 211-215
    • Dorin, J.R.1
  • 11
    • 0027172739 scopus 로고
    • Production of a severe cystic fibrosis mutation in mice by gene targeting
    • Ratcliff, R. et al. Production of a severe cystic fibrosis mutation in mice by gene targeting. Nature Genet. 4, 35-41 (1993).
    • (1993) Nature Genet , vol.4 , pp. 35-41
    • Ratcliff, R.1
  • 12
    • 0027379757 scopus 로고
    • A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus
    • O'Neal, W. K. et al. A severe phenotype in mice with a duplication of exon 3 in the cystic fibrosis locus. Hum. molec. Genet. 2, 1561-1569 (1993).
    • (1993) Hum. molec. Genet , vol.2 , pp. 1561-1569
    • O'Neal, W.K.1
  • 13
    • 0028047688 scopus 로고
    • CFTR and calcium-activated chloride currents in pancreatic duct cells of a transgenic CF mouse
    • Gray, M. A., Winpenny, J. P., Porteous, D. J., Dorin, J. R. & Argent, B. E. CFTR and calcium-activated chloride currents in pancreatic duct cells of a transgenic CF mouse. Am. J. Physiol. 266, 213-221 (1994).
    • (1994) Am. J. Physiol , vol.266 , pp. 213-221
    • Gray, M.A.1    Winpenny, J.P.2    Porteous, D.J.3    Dorin, J.R.4    Argent, B.E.5
  • 14
    • 0027967986 scopus 로고
    • Inefficient gene transfer by adenovirus vector to cystic fibrosis airway epithelia of mice and humans
    • Grubb, B. R. et al. Inefficient gene transfer by adenovirus vector to cystic fibrosis airway epithelia of mice and humans. Nature 371, 802-806 (1994).
    • (1994) Nature , vol.371 , pp. 802-806
    • Grubb, B.R.1
  • 15
    • 0027361622 scopus 로고
    • Non-invasive liposome-mediated gene delivery can correct the ion transport defect in cystic fibrosis mutant mice
    • Alton, E. W. et al. Non-invasive liposome-mediated gene delivery can correct the ion transport defect in cystic fibrosis mutant mice. Nature Genet. 5, 135-142 (1993).
    • (1993) Nature Genet , vol.5 , pp. 135-142
    • Alton, E.W.1
  • 16
    • 0027475701 scopus 로고
    • Correction of the ion transport defect in cystic fibrosis transgenic mice by gene therapy
    • Hyde, S. C. et al. Correction of the ion transport defect in cystic fibrosis transgenic mice by gene therapy. Nature 362, 250-255 (1993).
    • (1993) Nature , vol.362 , pp. 250-255
    • Hyde, S.C.1
  • 17
    • 0025242929 scopus 로고
    • Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
    • Cheng, S. H. et al. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63, 827-834 (1990).
    • (1990) Cell , vol.63 , pp. 827-834
    • Cheng, S.H.1
  • 18
    • 0026781952 scopus 로고
    • Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive
    • Denning, G. M. et al. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. Nature 358, 761-764 (1992).
    • (1992) Nature , vol.358 , pp. 761-764
    • Denning, G.M.1
  • 19
    • 0027483610 scopus 로고
    • The cystic fibrosis mutation (F508) does not influence the chloride channel activity of CFTR
    • Li, C. et al. The cystic fibrosis mutation (F508) does not influence the chloride channel activity of CFTR. Nature Genet. 3, 311-316 (1993).
    • (1993) Nature Genet , vol.3 , pp. 311-316
    • Li, C.1
  • 20
    • 0027380236 scopus 로고
    • The F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells
    • Lukacs, G. L. et al. The F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells. J. biol. Chem. 268, 21592-21598 (1993).
    • (1993) J. biol. Chem , vol.268 , pp. 21592-21598
    • Lukacs, G.L.1
  • 21
    • 0028215532 scopus 로고
    • Differential acidic pH sensitivity of F508 CFTR Ch channel activity in lipid bilayers
    • Sherry, A. M., Cuppoletti, J. & Malinowska, D. H. Differential acidic pH sensitivity of F508 CFTR Ch channel activity in lipid bilayers. Am. J. Physiol. 266, 870-875 (1994).
    • (1994) Am. J. Physiol , vol.266 , pp. 870-875
    • Sherry, A.M.1    Cuppoletti, J.2    Malinowska, D.H.3
  • 22
    • 0026325533 scopus 로고
    • Altered chloride ion channel kinetics associated with F508 cystic fibrosis mutation
    • Dalemans, W. et al. Altered chloride ion channel kinetics associated with F508 cystic fibrosis mutation. Nature 354, 526-528 (1991).
    • (1991) Nature , vol.354 , pp. 526-528
    • Dalemans, W.1
  • 23
    • 0027390125 scopus 로고
    • Effects of the F508 mutation on the structure, function, and folding of the first nucleotide-binding domain of CFTR
    • Thomas, P. J. & Pedersen, P. L. Effects of the F508 mutation on the structure, function, and folding of the first nucleotide-binding domain of CFTR. J. Bioenerg. Biomembr. 25, 11-19 (1993).
    • (1993) J. Bioenerg. Biomembr , vol.25 , pp. 11-19
    • Thomas, P.J.1    Pedersen, P.L.2
  • 24
    • 0028232167 scopus 로고
    • Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic f ibrosis transmembrane conductance regulator
    • Pind, S., Riordan, J. R. & Williams, D. B. Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic f ibrosis transmembrane conductance regulator. J. biol. Chem. 269, 12784-12788 (1994).
    • (1994) J. biol. Chem , vol.269 , pp. 12784-12788
    • Pind, S.1    Riordan, J.R.2    Williams, D.B.3
  • 25
    • 0027488993 scopus 로고
    • The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment
    • Yang, Y., Janich, S., Cohn, J. A. & Wilson, J. M. The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment. Proc. natn. Acad. Sci. U. S. A. 90, 9480-9484 (1993).
    • (1993) Proc. natn. Acad. Sci. U.S.A , vol.90 , pp. 9480-9484
    • Yang, Y.1    Janich, S.2    Cohn, J.A.3    Wilson, J.M.4
  • 26
    • 0028944377 scopus 로고
    • Functional activation of the cystic fibrosis trafficking mutant F508-CFTR by overexpression
    • Cheng, S. H. et al. Functional activation of the cystic fibrosis trafficking mutant F508-CFTR by overexpression. Am. J. Physiol. 268, L615-624 (1995).
    • (1995) Am. J. Physiol , vol.268 , pp. L615-L624
    • Cheng, S.H.1
  • 27
    • 0023090920 scopus 로고
    • A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice
    • Kuehn, M. R., Bradley, A., Robertson, E. J. & Evans, M. J. A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Nature 326, 295-298 (1987).
    • (1987) Nature , vol.326 , pp. 295-298
    • Kuehn, M.R.1    Bradley, A.2    Robertson, E.J.3    Evans, M.J.4
  • 28
    • 0028878728 scopus 로고
    • The genetic advantage hypothesis in cystic fibrosis heterozygotes: A murine study
    • Cuthbert, A. W., Halstead, J., Ratcliff, R., Coiledge, W. H. & Evans, M. J. The genetic advantage hypothesis in cystic fibrosis heterozygotes: a murine study. J. Physiol. 482, 449-454 (1995).
    • (1995) J. Physiol , vol.482 , pp. 449-454
    • Cuthbert, A.W.1    Halstead, J.2    Ratcliff, R.3    Coiledge, W.H.4    Evans, M.J.5
  • 29
    • 0028131769 scopus 로고
    • Ion-transporting activity in the murine colonic epithelium of normal animals and animals with cystic fibrosis
    • Cuthbert, A. W. et al. Ion-transporting activity in the murine colonic epithelium of normal animals and animals with cystic fibrosis. Pflugers Arch. 428, 508-515 (1994).
    • (1994) Pflugers Arch , vol.428 , pp. 508-515
    • Cuthbert, A.W.1
  • 30
    • 0028111842 scopus 로고
    • Anomalies in ion transport in CF mouse tracheal epithelium
    • Grubb, B. R., Paradiso, A. M. & Boucher, R. C. Anomalies in ion transport in CF mouse tracheal epithelium. Am. J. Physiol. 267, 293-300 (1994).
    • (1994) Am. J. Physiol , vol.267 , pp. 293-300
    • Grubb, B.R.1    Paradiso, A.M.2    Boucher, R.C.3
  • 31
    • 0028047495 scopus 로고
    • Developmental differences of cystic fibrosis transmembrane conductance regulator functional expression in isolated fetal distal airway epithelial cells
    • MacLeod, R. J., Hamilton, J. R., Kopelman, H. & Sweezey, N. B. Developmental differences of cystic fibrosis transmembrane conductance regulator functional expression in isolated fetal distal airway epithelial cells. Pediatric Res. 35, 45-49 (1993).
    • (1993) Pediatric Res , vol.35 , pp. 45-49
    • McLeod, R.J.1    Hamilton, J.R.2    Kopelman, H.3    Sweezey, N.B.4
  • 32
    • 0020610435 scopus 로고
    • Abnormal ion permeation through cystic fibrosis respiratory epithelium
    • Knowles, M. R. et al. Abnormal ion permeation through cystic fibrosis respiratory epithelium. Science 221, 1067-1069 (1983).
    • (1983) Science , vol.221 , pp. 1067-1069
    • Knowles, M.R.1
  • 33
    • 0026337305 scopus 로고
    • Chloride conductance expressed by F508 and other mutant CFTRs in Xenopus oocytes
    • Drumm, M. L. et al. Chloride conductance expressed by F508 and other mutant CFTRs in Xenopus oocytes. Science 254, 1797-1799 (1991).
    • (1991) Science , vol.254 , pp. 1797-1799
    • Drumm, M.L.1
  • 34
    • 0026918861 scopus 로고
    • Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis
    • Johnson, L. G. et al. Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis. Nature Genet. 2, 21-25 (1992).
    • (1992) Nature Genet , vol.2 , pp. 21-25
    • Johnson, L.G.1
  • 35
    • 0026656343 scopus 로고
    • Extensive post-transcriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis
    • Chu, C. S., Trapnell, B. C., Curristin, S. M., Cutting, G. R. & Crystal, R. G. Extensive post-transcriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J. Clin. Invest. 90, 785-790 (1992).
    • (1992) J. Clin. Invest , vol.90 , pp. 785-790
    • Chu, C.S.1    Trapnell, B.C.2    Curristin, S.M.3    Cutting, G.R.4    Crystal, R.G.5
  • 36
    • 0028003254 scopus 로고
    • Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type cftr gene expression
    • Dorin, J. R. et al. Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type cftr gene expression Mamm. Genome 5, 465-472 (1994).
    • (1994) Mamm. Genome , vol.5 , pp. 465-472
    • Dorin, J.R.1
  • 37
    • 0025309404 scopus 로고
    • Regulatory elements in the introns of the human HPRT gene are necessary for its expression in embryonic stem cells
    • Reid, L. A., Gregg, R. G., Smithies, O. & Koller, B. H. Regulatory elements in the introns of the human HPRT gene are necessary for its expression in embryonic stem cells. Proc. natn. Acad. Sci. U. S. A. 87, 4299-4303 (1990).
    • (1990) Proc. natn. Acad. Sci. U.S.A , vol.87 , pp. 4299-4303
    • Reid, L.A.1    Gregg, R.G.2    Smithies, O.3    Koller, B.H.4
  • 38
    • 0023707607 scopus 로고
    • Recombinant fragment assay for gene targeting based on the polymerase chain reaction
    • Kim, H.-S. & Smithies, O. Recombinant fragment assay for gene targeting based on the polymerase chain reaction. Nucl. Acids Res. 15, 8887-8903 (1988).
    • (1988) Nucl. Acids Res , vol.15 , pp. 8887-8903
    • Kim, H.-S.1    Smithies, O.2
  • 39
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski, P. & Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162, 156-159 (1987).
    • (1987) Anal. Biochem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 40
    • 0027249601 scopus 로고
    • Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels
    • Delaney, S. J. et al. Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels. Nature Genet. 4, 426-431 (1993).
    • (1993) Nature Genet , vol.4 , pp. 426-431
    • Delaney, S.J.1
  • 41
    • 0023123058 scopus 로고
    • Membrane chloride transport measured using a chloride-sensitive fluorescent indicator
    • Illsley, N. P. & Verkman, A. S. Membrane chloride transport measured using a chloride-sensitive fluorescent indicator. Biochemistry 26, 1215-1219 (1987).
    • (1987) Biochemistry , vol.26 , pp. 1215-1219
    • Illsley, N.P.1    Verkman, A.S.2
  • 42
    • 0027171978 scopus 로고
    • Regulation of the cystic fibrosis transmembrane conductance regulator chloride channel activity by negative charge in the R domain
    • Rich, D. P. et al. Regulation of the cystic fibrosis transmembrane conductance regulator chloride channel activity by negative charge in the R domain J. biol. Chem. 268, 20259-20267 (1993).
    • (1993) J. biol. Chem , vol.268 , pp. 20259-20267
    • Rich, D.P.1
  • 43
    • 0028129406 scopus 로고
    • Stoichiometry of recombinant cystic fibrosis transmembrane conductance regulator in epithelial cells and its functional reconstitution into cells in vitro
    • Marshall, J. et al. Stoichiometry of recombinant cystic fibrosis transmembrane conductance regulator in epithelial cells and its functional reconstitution into cells in vitro J. biol. Chem. 269, 29897-2995 (1994).
    • (1994) J. biol. Chem , vol.269 , pp. 29897-32995
    • Marshall, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.