메뉴 건너뛰기




Volumn 411, Issue 3, 1998, Pages 179-214

Mutations that alter RNA splicing of the human HPRT gene: A review of the spectrum

Author keywords

Exon exlusion or exon skipping; HPRT; HPRT mutation; Human mutation; Splice site mutation

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; TIOGUANINE;

EID: 0032212402     PISSN: 13835742     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5742(98)00013-1     Document Type: Article
Times cited : (101)

References (98)
  • 1
    • 0029891101 scopus 로고    scopus 로고
    • The structure and function of proteins involved in mammalian pre-mRNA splicing
    • Kramer A. The structure and function of proteins involved in mammalian pre-mRNA splicing. Annu. Rev. Biochem. 65:1996;367-409.
    • (1996) Annu. Rev. Biochem. , vol.65 , pp. 367-409
    • Kramer, A.1
  • 2
    • 0343907206 scopus 로고    scopus 로고
    • Protein functions in pre-mRNA splicing
    • Will C., Luhrmann R. Protein functions in pre-mRNA splicing. Curr. Opin. Cell Biol. 9:1997;320-328.
    • (1997) Curr. Opin. Cell Biol. , vol.9 , pp. 320-328
    • Will, C.1    Luhrmann, R.2
  • 3
    • 0029933504 scopus 로고    scopus 로고
    • Initial splice-site recognition and pairing during pre-mRNA splicing
    • Reed R. Initial splice-site recognition and pairing during pre-mRNA splicing. Curr. Opin. Genet. Dev. 6:1996;215-220.
    • (1996) Curr. Opin. Genet. Dev. , vol.6 , pp. 215-220
    • Reed, R.1
  • 4
    • 0029372979 scopus 로고
    • The superfamily of arginine/serine rich splicing factors
    • Fu X.D. The superfamily of arginine/serine rich splicing factors. RNA. 1:1995;663-680.
    • (1995) RNA , vol.1 , pp. 663-680
    • Fu, X.D.1
  • 5
    • 0029894931 scopus 로고    scopus 로고
    • Identification of proteins that interact with exon sequences, splice sites, and the branchpoint sequence during each stage of spliceosome assembly
    • Chiara M.D., Gozani O., Bennett M., Champion-Arnaud P., Palanfjian L., Reed R. Identification of proteins that interact with exon sequences, splice sites, and the branchpoint sequence during each stage of spliceosome assembly. Mol. Cell. Biol. 16:1996;3317-3326.
    • (1996) Mol. Cell. Biol. , vol.16 , pp. 3317-3326
    • Chiara, M.D.1    Gozani, O.2    Bennett, M.3    Champion-Arnaud, P.4    Palanfjian, L.5    Reed, R.6
  • 7
    • 0027424442 scopus 로고
    • Specific commitment of different pre-mRNAs to splicing by single SR proteins
    • Fu X.-D. Specific commitment of different pre-mRNAs to splicing by single SR proteins. Nature. 365:1993;82-85.
    • (1993) Nature , vol.365 , pp. 82-85
    • Fu, X.-D.1
  • 8
    • 0028895417 scopus 로고
    • Exon recognition in vertebrate splicing
    • Berget S.M. Exon recognition in vertebrate splicing. J. Biol. Chem. 270:1995;2411-2414.
    • (1995) J. Biol. Chem. , vol.270 , pp. 2411-2414
    • Berget, S.M.1
  • 9
    • 0028917214 scopus 로고
    • A novel U2-U6 snRNA structure is necessary for mammalian mRNA splicing
    • Sun J.-S., Manley J.L. A novel U2-U6 snRNA structure is necessary for mammalian mRNA splicing. Genes Dev. 9:1995;843-854.
    • (1995) Genes Dev. , vol.9 , pp. 843-854
    • Sun, J.-S.1    Manley, J.L.2
  • 10
    • 0027739853 scopus 로고
    • The U5 and U6 small nuclear RNAs as active site components of the spliceosome
    • Sontheimer E.J., Steitz J.A. The U5 and U6 small nuclear RNAs as active site components of the spliceosome. Science. 262:1993;1989-1991.
    • (1993) Science , vol.262 , pp. 1989-1991
    • Sontheimer, E.J.1    Steitz, J.A.2
  • 11
    • 0028034324 scopus 로고
    • Complementation by SR proteins of pre-mRNA splicing reactions depleted of U1 snRNP
    • Crispino J.D., Blencowe B.J., Sharp P.A. Complementation by SR proteins of pre-mRNA splicing reactions depleted of U1 snRNP. Science. 265:1994;1866-1869.
    • (1994) Science , vol.265 , pp. 1866-1869
    • Crispino, J.D.1    Blencowe, B.J.2    Sharp, P.A.3
  • 12
    • 0028941920 scopus 로고
    • Modulation of 5′ splice site choice in pre-messenger RNA by two distinct steps
    • Tarn W.Y., Steitz J.A. Modulation of 5′ splice site choice in pre-messenger RNA by two distinct steps. Proc. Natl. Acad. Sci. U.S.A. 92:1995;2504-2508.
    • (1995) Proc. Natl. Acad. Sci. U.S.A. , vol.92 , pp. 2504-2508
    • Tarn, W.Y.1    Steitz, J.A.2
  • 13
    • 0028077730 scopus 로고
    • Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors
    • Ca-ceres J.F., Stamm S., Helfman D.M., Krainer A.R. Regulation of alternative splicing in vivo by overexpression of antagonistic splicing factors. Science. 265:1994;1706-1708.
    • (1994) Science , vol.265 , pp. 1706-1708
    • Ca-ceres, J.F.1    Stamm, S.2    Helfman, D.M.3    Krainer, A.R.4
  • 14
    • 0027715743 scopus 로고
    • General splicing factor SF2/ASF promotes alternative splicing by binding to an exonic splicing enhancer
    • Sun Q., Mayeda A., Hampson R.K., Krainer A.R., Rottman F.M. General splicing factor SF2/ASF promotes alternative splicing by binding to an exonic splicing enhancer. Genes Dev. 7:1993;2598-2608.
    • (1993) Genes Dev. , vol.7 , pp. 2598-2608
    • Sun, Q.1    Mayeda, A.2    Hampson, R.K.3    Krainer, A.R.4    Rottman, F.M.5
  • 15
    • 0029055472 scopus 로고
    • Distinct binding specificities and functions of higher eukaryotic polypyrimidine tract-binding proteins
    • Singh R., Valcrcel J., Green M.R. Distinct binding specificities and functions of higher eukaryotic polypyrimidine tract-binding proteins. Science. 268:1995;1173-1176.
    • (1995) Science , vol.268 , pp. 1173-1176
    • Singh, R.1    Valcrcel, J.2    Green, M.R.3
  • 16
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant mutations of mammalian genes
    • Nakai K., Sakamoto H. Construction of a novel database containing aberrant mutations of mammalian genes. Gene. 141:1994;171-177.
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 17
    • 0025245371 scopus 로고
    • Effect of 5′ splice site mutations on splicing of the preceding intron
    • Talerico M., Berget S.M. Effect of 5′ splice site mutations on splicing of the preceding intron. Mol. Cell. Biol. 10:1990;6299-6305.
    • (1990) Mol. Cell. Biol. , vol.10 , pp. 6299-6305
    • Talerico, M.1    Berget, S.M.2
  • 18
    • 0025744474 scopus 로고
    • Prediction of human mRNA donor and acceptor sites from the DNA sequence
    • Brunak S., Engelbrecht J., Knudsen S. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J. Mol. Biol. 220:1991;49-65.
    • (1991) J. Mol. Biol. , vol.220 , pp. 49-65
    • Brunak, S.1    Engelbrecht, J.2    Knudsen, S.3
  • 19
    • 0025098474 scopus 로고
    • Exon definition may facilitate splice site selection in RNAs with multiple exons
    • Robberson B.L., Cote G.J., Berget S.M. Exon definition may facilitate splice site selection in RNAs with multiple exons. Mol. Cell. Biol. 10:1990;84-94.
    • (1990) Mol. Cell. Biol. , vol.10 , pp. 84-94
    • Robberson, B.L.1    Cote, G.J.2    Berget, S.M.3
  • 20
    • 0027137934 scopus 로고
    • Specific interactions between proteins implicated in splice site selection and regulated alternative splicing
    • Wu J.Y., Maniatis T. Specific interactions between proteins implicated in splice site selection and regulated alternative splicing. Cell. 75:1993;1061-1070.
    • (1993) Cell , vol.75 , pp. 1061-1070
    • Wu, J.Y.1    Maniatis, T.2
  • 21
    • 0022516779 scopus 로고
    • A role for exon sequences and splice-site proximity in splice-site selection
    • Reed R., Maniatis T. A role for exon sequences and splice-site proximity in splice-site selection. Cell. 46:1986;681-690.
    • (1986) Cell , vol.46 , pp. 681-690
    • Reed, R.1    Maniatis, T.2
  • 22
    • 0027288912 scopus 로고
    • The role of exon sequences in splice site selection
    • Watakabe A., Tanaka K., Shimura Y. The role of exon sequences in splice site selection. Genes Dev. 7:1993;407-418.
    • (1993) Genes Dev. , vol.7 , pp. 407-418
    • Watakabe, A.1    Tanaka, K.2    Shimura, Y.3
  • 23
    • 0027175502 scopus 로고
    • The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element
    • Xu R., Teng J., Cooper T.A. The cardiac troponin T alternative exon contains a novel purine-rich positive splicing element. Mol. Cell. Biol. 13:1993;3660-3674.
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 3660-3674
    • Xu, R.1    Teng, J.2    Cooper, T.A.3
  • 24
    • 0027143943 scopus 로고
    • A splicing enhancer in the human fibronectin alternate exon ED1 exon interacts with SR proteins and stimulates U2 snRNP binding
    • Laviguer A., La Branche H., Kornblihtt A.R., Chabot B. A splicing enhancer in the human fibronectin alternate exon ED1 exon interacts with SR proteins and stimulates U2 snRNP binding. Genes Dev. 7:1993;2405-2417.
    • (1993) Genes Dev. , vol.7 , pp. 2405-2417
    • Laviguer, A.1    La Branche, H.2    Kornblihtt, A.R.3    Chabot, B.4
  • 25
    • 0024501943 scopus 로고
    • Alternative processing of bovine growth hormone mRNA is influenced by downstream exon sequences
    • Hampson R.K., La Follette L., Rottman F.M. Alternative processing of bovine growth hormone mRNA is influenced by downstream exon sequences. Mol. Cell. Biol. 9:1989;1604-1610.
    • (1989) Mol. Cell. Biol. , vol.9 , pp. 1604-1610
    • Hampson, R.K.1    La Follette, L.2    Rottman, F.M.3
  • 26
    • 0028308631 scopus 로고
    • Regulation of alternative pre-mRNA splicing by a novel repeated hexanucleotide element
    • Huh G.S., Hynes R.O. Regulation of alternative pre-mRNA splicing by a novel repeated hexanucleotide element. Genes Dev. 8:1994;1561-1574.
    • (1994) Genes Dev. , vol.8 , pp. 1561-1574
    • Huh, G.S.1    Hynes, R.O.2
  • 27
    • 0029824122 scopus 로고    scopus 로고
    • An intron splicing enhancer containing a G-rich repeat facilitates inclusion of a vertebrate micro-exon
    • Carlo T., Sterner D.A., Berget S.M. An intron splicing enhancer containing a G-rich repeat facilitates inclusion of a vertebrate micro-exon. RNA. 2:1996;342-353.
    • (1996) RNA , vol.2 , pp. 342-353
    • Carlo, T.1    Sterner, D.A.2    Berget, S.M.3
  • 29
    • 0023956396 scopus 로고
    • The length of the downstream exon and the substitution of specific sequences affect pre-mRNA splicing in vitro
    • Furdon P.J., Kole R. The length of the downstream exon and the substitution of specific sequences affect pre-mRNA splicing in vitro. Mol. Cell. Biol. 8:1988;860-866.
    • (1988) Mol. Cell. Biol. , vol.8 , pp. 860-866
    • Furdon, P.J.1    Kole, R.2
  • 30
    • 0029183591 scopus 로고
    • Aspects of splice site selection in constitutive and alternative pre-mRNA splicing
    • Inoue K., Ohno M., Shimura Y. Aspects of splice site selection in constitutive and alternative pre-mRNA splicing. Gene Express. 4:1995;177-182.
    • (1995) Gene Express. , vol.4 , pp. 177-182
    • Inoue, K.1    Ohno, M.2    Shimura, Y.3
  • 31
    • 0025321246 scopus 로고
    • Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project
    • Senapathy P., Shapiro M.B., Harris N.L. Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Meth. Enzymol. 183:1990;252-278.
    • (1990) Meth. Enzymol. , vol.183 , pp. 252-278
    • Senapathy, P.1    Shapiro, M.B.2    Harris, N.L.3
  • 32
    • 0025279906 scopus 로고
    • Distribution and consensus of branch point signals in eukaryotic genes: A computerized statistical analysis
    • Harris N.L., Senapathy P. Distribution and consensus of branch point signals in eukaryotic genes: a computerized statistical analysis. Nucl. Acids Res. 18:1990;3015-3019.
    • (1990) Nucl. Acids Res. , vol.18 , pp. 3015-3019
    • Harris, N.L.1    Senapathy, P.2
  • 33
    • 0025755453 scopus 로고
    • Human pre-mRNA splicing signals
    • Penotti F.E. Human pre-mRNA splicing signals. J. Theor. Biol. 150:1991;385-420.
    • (1991) J. Theor. Biol. , vol.150 , pp. 385-420
    • Penotti, F.E.1
  • 34
    • 0030658850 scopus 로고    scopus 로고
    • Sequence walkers: A graphical method to display how binding proteins interact with DNA or RNA sequences
    • Schneider T.D. Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences. Nucl. Acids Res. 25:1997;4408-4415.
    • (1997) Nucl. Acids Res. , vol.25 , pp. 4408-4415
    • Schneider, T.D.1
  • 35
    • 0027054380 scopus 로고
    • Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites
    • Stephens R.M., Schneider T.D. Features of spliceosome evolution and function inferred from an analysis of the information at human splice sites. J. Mol. Biol. 24:1992;1124-1136.
    • (1992) J. Mol. Biol. , vol.24 , pp. 1124-1136
    • Stephens, R.M.1    Schneider, T.D.2
  • 36
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro M.B., Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucl. Acids Res. 15:1987;7155-7174.
    • (1987) Nucl. Acids Res. , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 38
    • 0029009677 scopus 로고
    • Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites
    • Rogan P.K., Schneider T.D. Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites. Hum. Mutat. 6:1995;74-76.
    • (1995) Hum. Mutat. , vol.6 , pp. 74-76
    • Rogan, P.K.1    Schneider, T.D.2
  • 39
    • 0031880376 scopus 로고    scopus 로고
    • Information analysis of human splice site mutations
    • Rogan P.K., Faux B.M., Schneider T.D. Information analysis of human splice site mutations. Hum. Mut. 12:1998;153-171.
    • (1998) Hum. Mut. , vol.12 , pp. 153-171
    • Rogan, P.K.1    Faux, B.M.2    Schneider, T.D.3
  • 40
    • 0027233694 scopus 로고
    • A mutational analysis of the polypyrimidine tract of introns
    • Roscigno R.F., Weiner M., Garcia-Blanco M.A. A mutational analysis of the polypyrimidine tract of introns. J. Biol. Chem. 268:1993;11222-11229.
    • (1993) J. Biol. Chem. , vol.268 , pp. 11222-11229
    • Roscigno, R.F.1    Weiner, M.2    Garcia-Blanco, M.A.3
  • 41
    • 0024808994 scopus 로고
    • The organization of 3′ splice-site sequences in mammalian introns
    • Reed R. The organization of 3′ splice-site sequences in mammalian introns. Genes Dev. 3:1989;2113-2123.
    • (1989) Genes Dev. , vol.3 , pp. 2113-2123
    • Reed, R.1
  • 42
    • 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. Nature Genet. 3:1993;151-156.
    • (1993) Nature 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
  • 43
    • 0024747748 scopus 로고
    • Mammalian U2 snRNP has a sequence-specific RNA-binding activity
    • Nelson K.K., Green M.R. Mammalian U2 snRNP has a sequence-specific RNA-binding activity. Genes Dev. 3:1989;1562-1571.
    • (1989) Genes Dev. , vol.3 , pp. 1562-1571
    • Nelson, K.K.1    Green, M.R.2
  • 44
    • 0021887989 scopus 로고
    • Intron sequences involved in lariat formation during pre-mRNA splicing
    • Reed R., Maniatis T. Intron sequences involved in lariat formation during pre-mRNA splicing. Cell. 41:1985;95-105.
    • (1985) Cell , vol.41 , pp. 95-105
    • Reed, R.1    Maniatis, T.2
  • 45
    • 0024390066 scopus 로고
    • Branch point selection in alternative splicing of tropomyosin pre-mRNAs
    • Helfman D.M., Ricci W.M. Branch point selection in alternative splicing of tropomyosin pre-mRNAs. Nucl. Acids Res. 17:1989;5633-5650.
    • (1989) Nucl. Acids Res. , vol.17 , pp. 5633-5650
    • Helfman, D.M.1    Ricci, W.M.2
  • 46
    • 0026755181 scopus 로고
    • A native RNA secondary structure controls alternative splice-site selection and generates two human growth hormone isoforms
    • Estes P.A., Cooke N.E., Liebhaber S.A. A native RNA secondary structure controls alternative splice-site selection and generates two human growth hormone isoforms. J. Biol. Chem. 267:1992;14902-14908.
    • (1992) J. Biol. Chem. , vol.267 , pp. 14902-14908
    • Estes, P.A.1    Cooke, N.E.2    Liebhaber, S.A.3
  • 47
    • 0026779374 scopus 로고
    • In vitro splicing of cardiac troponin precursors
    • Cooper T.A. In vitro splicing of cardiac troponin precursors. J. Biol. Chem. 267:1992;5330-5338.
    • (1992) J. Biol. Chem. , vol.267 , pp. 5330-5338
    • Cooper, T.A.1
  • 48
    • 0025026287 scopus 로고
    • Exon as well as intron sequences are cis-regulating elements for the mutually exclusive alternative splicing of the α tropomyosin gene
    • Libri D., Goux-Pelletan M., Brody E., Fiszman M.Y. Exon as well as intron sequences are cis-regulating elements for the mutually exclusive alternative splicing of the α tropomyosin gene. Mol. Cell. Biol. 10:1990;5036-5046.
    • (1990) Mol. Cell. Biol. , vol.10 , pp. 5036-5046
    • Libri, D.1    Goux-Pelletan, M.2    Brody, E.3    Fiszman, M.Y.4
  • 49
    • 0024594710 scopus 로고
    • Mutually exclusive splicing of α-tropomyosin exons enforced by an unusual lariat branch point location: Implications for constitutive splicing
    • Smith C.W.J., Nadal-Ginard B. Mutually exclusive splicing of α-tropomyosin exons enforced by an unusual lariat branch point location: implications for constitutive splicing. Cell. 56:1989;749-758.
    • (1989) Cell , vol.56 , pp. 749-758
    • Smith, C.W.J.1    Nadal-Ginard, B.2
  • 50
    • 0027650990 scopus 로고
    • Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells
    • Carothers A.M., Urlaub G., Grunberger D., Chasin L.A. Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells. Mol. Cell. Biol. 13:1993;5085-5098.
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 5085-5098
    • Carothers, A.M.1    Urlaub, G.2    Grunberger, D.3    Chasin, L.A.4
  • 51
    • 0027214101 scopus 로고
    • Scanning and competition between AGs are involved in 3′ splice site selection in mammalian introns
    • Smith W.J.T., Chu C.T., Nadal-Ginard B. Scanning and competition between AGs are involved in 3′ splice site selection in mammalian introns. Mol. Cell. Biol. 13:1993;4939-4952.
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 4939-4952
    • Smith, W.J.T.1    Chu, C.T.2    Nadal-Ginard, B.3
  • 52
    • 0021966914 scopus 로고
    • Cryptic branch point activation allows accurate in vitro splicing of human $-globin intron mutants
    • Ruskin B., Greene J.M., Green M.R. Cryptic branch point activation allows accurate in vitro splicing of human $-globin intron mutants. Cell. 41:1985;833-844.
    • (1985) Cell , vol.41 , pp. 833-844
    • Ruskin, B.1    Greene, J.M.2    Green, M.R.3
  • 53
    • 0026039804 scopus 로고
    • Selection of splice sites in pre-mRNAs with short internal exons
    • Dominiski Z., Kole R. Selection of splice sites in pre-mRNAs with short internal exons. Mol. Cell. Biol. 11:1991;6075-6083.
    • (1991) Mol. Cell. Biol. , vol.11 , pp. 6075-6083
    • Dominiski, Z.1    Kole, R.2
  • 54
    • 0029918268 scopus 로고    scopus 로고
    • Sequence of the polypyrimidine tract of the 3′-terminal 3′ splicing signal can affect intron-dependent pre-mRNA processing in vivo
    • Liu X., Mertz J.E. Sequence of the polypyrimidine tract of the 3′-terminal 3′ splicing signal can affect intron-dependent pre-mRNA processing in vivo. Nucl. Acids Res. 24:1996;1765-1773.
    • (1996) Nucl. Acids Res. , vol.24 , pp. 1765-1773
    • Liu, X.1    Mertz, J.E.2
  • 56
    • 0024988383 scopus 로고
    • In vitro polyadenylation is stimulated by the presence of an upstream intron
    • Niwa M., Rose S.D., Berget S.M. In vitro polyadenylation is stimulated by the presence of an upstream intron. Genes Dev. 4:1990;1552-1559.
    • (1990) Genes Dev. , vol.4 , pp. 1552-1559
    • Niwa, M.1    Rose, S.D.2    Berget, S.M.3
  • 57
    • 0021704598 scopus 로고
    • A minimal intron length but no specific internal sequence is required for splicing the large rabbit $-globin intron
    • Wieringa B., Hofer E., Weissman C. A minimal intron length but no specific internal sequence is required for splicing the large rabbit $-globin intron. Cell. 37:1984;915-925.
    • (1984) Cell , vol.37 , pp. 915-925
    • Wieringa, B.1    Hofer, E.2    Weissman, C.3
  • 58
    • 0027937274 scopus 로고
    • A 5′ splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL 1A1 gene
    • Bateman J.F., Chan D., Moeller I., Hannagan M., Cole W.G. A 5′ splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL 1A1 gene. Biochem. J. 302:1994;729-735.
    • (1994) Biochem. J. , vol.302 , pp. 729-735
    • Bateman, J.F.1    Chan, D.2    Moeller, I.3    Hannagan, M.4    Cole, W.G.5
  • 59
    • 0027251405 scopus 로고
    • In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit
    • Sterner D.A., Berget S.M. In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit. Mol. Cell. Biol. 13:1993;2677-2687.
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 2677-2687
    • Sterner, D.A.1    Berget, S.M.2
  • 60
    • 0025302450 scopus 로고
    • Polyoma virus small tumor antigen pre-mRNA splicing requires cooperation between two 3′ splice sites
    • Ge H., Noble J., Colgan J., Manley J.L. Polyoma virus small tumor antigen pre-mRNA splicing requires cooperation between two 3′ splice sites. Proc. Natl. Acad. Sci. U.S.A. 87:1990;3338-3342.
    • (1990) Proc. Natl. Acad. Sci. U.S.A. , vol.87 , pp. 3338-3342
    • Ge, H.1    Noble, J.2    Colgan, J.3    Manley, J.L.4
  • 61
    • 0029794493 scopus 로고    scopus 로고
    • Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease
    • Aoshima M., Nunoi H., Shimazu M., Shimizu S., Tatsuzawa O., Kenney R.T., Kanegasaki S. Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease. Blood. 88:1996;1841-1845.
    • (1996) Blood , vol.88 , pp. 1841-1845
    • Aoshima, M.1    Nunoi, H.2    Shimazu, M.3    Shimizu, S.4    Tatsuzawa, O.5    Kenney, R.T.6    Kanegasaki, S.7
  • 62
    • 0025970182 scopus 로고
    • A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA
    • Ligtenberg M.J.L., Gennissen A.M.C., Vos H.L., Hilkens J. A single nucleotide polymorphism in an exon dictates allele dependent differential splicing of episialin mRNA. Nucl. Acids Res. 19:1991;297-304.
    • (1991) Nucl. Acids Res. , vol.19 , pp. 297-304
    • Ligtenberg, M.J.L.1    Gennissen, A.M.C.2    Vos, H.L.3    Hilkens, J.4
  • 63
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in the 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 the mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 90:1992;41-54.
    • (1992) Hum. Genet. , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 65
    • 0024349521 scopus 로고
    • Nonsense mutations in the dihydrofolate reductase gene affect RNA processing
    • Urlaub G., Mitchell P.J., Ciudad C.J., Chasin L.A. Nonsense mutations in the dihydrofolate reductase gene affect RNA processing. Mol. Cell. Biol. 9:1989;2868-2880.
    • (1989) Mol. Cell. Biol. , vol.9 , pp. 2868-2880
    • Urlaub, G.1    Mitchell, P.J.2    Ciudad, C.J.3    Chasin, L.A.4
  • 66
    • 0024446126 scopus 로고
    • A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome Type VII
    • Weil D., D'Alessio M., Ramirez F., de Wet W., Cole W.G., Chan D., Bateman J.F. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome Type VII. EMBO J. 8:1989;1705-1710.
    • (1989) EMBO J. , vol.8 , pp. 1705-1710
    • Weil, D.1    D'Alessio, M.2    Ramirez, F.3    De Wet, W.4    Cole, W.G.5    Chan, D.6    Bateman, J.F.7
  • 67
    • 0027523504 scopus 로고
    • Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: Multiple-exon skipping as a secondary effect of the mutations
    • Fisher C.W., Fisher C.R., Chuang J.L., Lau K.S., Chuang D.T., Cox R.P. Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations. Am. J. Hum. Genet. 52:1993;414-424.
    • (1993) Am. J. Hum. Genet. , vol.52 , pp. 414-424
    • Fisher, C.W.1    Fisher, C.R.2    Chuang, J.L.3    Lau, K.S.4    Chuang, D.T.5    Cox, R.P.6
  • 68
    • 0023256564 scopus 로고
    • A nonsense mutation causes hereditary goitre in the Afrikaner cattle and unmasks alternative splicing of thyroglobulin transcripts
    • Ricketts M.H., Simons M.J., Parma J., Mercken L., Dong Q., Vassart G. A nonsense mutation causes hereditary goitre in the Afrikaner cattle and unmasks alternative splicing of thyroglobulin transcripts. Proc. Natl. Acad. Sci. U.S.A. 84:1987;3181-3184.
    • (1987) Proc. Natl. Acad. Sci. U.S.A. , vol.84 , pp. 3181-3184
    • Ricketts, M.H.1    Simons, M.J.2    Parma, J.3    Mercken, L.4    Dong, Q.5    Vassart, G.6
  • 69
    • 0028961117 scopus 로고
    • A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect
    • Smooker P.M., Christodoulou J., McInnes R.R., Cotton R.G.H. A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect. J. Med. Genet. 32:1995;220-223.
    • (1995) J. Med. Genet. , vol.32 , pp. 220-223
    • Smooker, P.M.1    Christodoulou, J.2    McInnes, R.R.3    Cotton, R.G.H.4
  • 70
    • 15844406352 scopus 로고    scopus 로고
    • Nonsense mutations inhibit RNA splicing in a cell-free system: Recognition of mutant codon is independent of protein synthesis
    • Aoufouchi S., Yjlamos J., Milstein C. Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis. Cell. 85:1996;415-422.
    • (1996) Cell , vol.85 , pp. 415-422
    • Aoufouchi, S.1    Yjlamos, J.2    Milstein, C.3
  • 71
  • 72
    • 0027382460 scopus 로고
    • MRNA surveillance by the Caenorhabditis elegans smg genes
    • Pulak R., Anderson P. mRNA surveillance by the Caenorhabditis elegans smg genes. Genes Dev. 7:1993;1885-1897.
    • (1993) Genes Dev. , vol.7 , pp. 1885-1897
    • Pulak, R.1    Anderson, P.2
  • 73
    • 0029835707 scopus 로고    scopus 로고
    • Defects in RNA splicing and the consequence of shortened translational reading frames
    • Maquat L.E. Defects in RNA splicing and the consequence of shortened translational reading frames. Am. J. Hum. Genet. 59:1996;279-286.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 279-286
    • Maquat, L.E.1
  • 75
    • 0026327335 scopus 로고
    • Fine structure mapping of the hprt gene region of the human X chromosome (Xq26)
    • Nicklas J.A., Hunter T.C., O'Neill J.P., Albertini R.J. Fine structure mapping of the hprt gene region of the human X chromosome (Xq26). Am. J. Hum. Genet. 49:1990;267-278.
    • (1990) Am. J. Hum. Genet. , vol.49 , pp. 267-278
    • Nicklas, J.A.1    Hunter, T.C.2    O'Neill, J.P.3    Albertini, R.J.4
  • 79
    • 0026607344 scopus 로고
    • Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene
    • Steingrimsdottir H., Rowley G., Dorado G., Cole J., Lehmann A.R. Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. Nucl. Acids Res. 20:1992;1201-1208.
    • (1992) Nucl. Acids Res. , vol.20 , pp. 1201-1208
    • Steingrimsdottir, H.1    Rowley, G.2    Dorado, G.3    Cole, J.4    Lehmann, A.R.5
  • 81
    • 0027197518 scopus 로고
    • Mutagenic processing of psoralen monoadducts differ in normal and Fanconi anemia cells
    • Guillouf C., Laquerbe A., Moustacchi E., Papadopoulo D. Mutagenic processing of psoralen monoadducts differ in normal and Fanconi anemia cells. Mutagenesis. 8:1993;355-361.
    • (1993) Mutagenesis , vol.8 , pp. 355-361
    • Guillouf, C.1    Laquerbe, A.2    Moustacchi, E.3    Papadopoulo, D.4
  • 82
    • 0027050035 scopus 로고
    • Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency
    • Yamada Y., Goto H., Suzumori K., Ritsuko A., Ogasawara N. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency. Hum. Genet. 90:1992;379-384.
    • (1992) Hum. Genet. , vol.90 , pp. 379-384
    • Yamada, Y.1    Goto, H.2    Suzumori, K.3    Ritsuko, A.4    Ogasawara, N.5
  • 83
    • 0028323180 scopus 로고
    • Spectrum of X-ray-induced mutations in the human hprt gene
    • Nelson S., Giver C.R., Grosovshy A.J. Spectrum of X-ray-induced mutations in the human hprt gene. Carcinogenesis. 15:1994;495-502.
    • (1994) Carcinogenesis , vol.15 , pp. 495-502
    • Nelson, S.1    Giver, C.R.2    Grosovshy, A.J.3
  • 84
    • 0027401877 scopus 로고
    • Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome
    • Marcus S., Hellgren D., Lambert B., Fällström S.P., Wahlström J. Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch-Nyhan syndrome. Hum. Genet. 90:1993;477-482.
    • (1993) Hum. Genet. , vol.90 , pp. 477-482
    • Marcus, S.1    Hellgren, D.2    Lambert, B.3    Fällström, S.P.4    Wahlström, J.5
  • 85
    • 0028178825 scopus 로고
    • Mutation specificity of 8-methoxypsoralen plus two doses of UVA irradiation in the hprt gene in diploid human fibroblasts
    • Yang S., Lin J.G., Chiou C.C., Chen L.Y., Yang J.L. Mutation specificity of 8-methoxypsoralen plus two doses of UVA irradiation in the hprt gene in diploid human fibroblasts. Carcinogenesis. 15:1994;201-207.
    • (1994) Carcinogenesis , vol.15 , pp. 201-207
    • Yang, S.1    Lin, J.G.2    Chiou, C.C.3    Chen, L.Y.4    Yang, J.L.5
  • 86
    • 0027285855 scopus 로고
    • Molecular analysis of ethylene oxide induced mutations at the hprt locus in human diploid fibroblasts
    • Bastlova T., Andersson B., Lambert B., Kilman A. Molecular analysis of ethylene oxide induced mutations at the hprt locus in human diploid fibroblasts. Mutation Res. 287:1993;283-292.
    • (1993) Mutation Res. , vol.287 , pp. 283-292
    • Bastlova, T.1    Andersson, B.2    Lambert, B.3    Kilman, A.4
  • 87
    • 0026502151 scopus 로고
    • Molecular Analysis of Mutations Affecting hprt mRNA Splicing in Human T-lymphocytes in vivo
    • Rossi A.M., Tates A.D., van Zeeland A.A., Vrieling H. Molecular Analysis of Mutations Affecting hprt mRNA Splicing in Human T-lymphocytes in vivo. Environ. Mol. Mutagenesis. 19:1992;7-13.
    • (1992) Environ. Mol. Mutagenesis , vol.19 , pp. 7-13
    • Rossi, A.M.1    Tates, A.D.2    Van Zeeland, A.A.3    Vrieling, H.4
  • 89
    • 0026920426 scopus 로고
    • Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency
    • Sege-Peterson L., Chambers J., Page T., Jones O.W., Nyhan W.L. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency. Hum. Mol. Genet. 1:1992;427-442.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 427-442
    • Sege-Peterson, L.1    Chambers, J.2    Page, T.3    Jones, O.W.4    Nyhan, W.L.5
  • 90
    • 0030960375 scopus 로고    scopus 로고
    • Large deletions partially external to the human hprt gene result in chimeric transcripts
    • Lippert M.J., Rainville I.R., Nicklas J.A., Albertini R.J. Large deletions partially external to the human hprt gene result in chimeric transcripts. Mutagenesis. 12:1997;185-190.
    • (1997) Mutagenesis , vol.12 , pp. 185-190
    • Lippert, M.J.1    Rainville, I.R.2    Nicklas, J.A.3    Albertini, R.J.4
  • 91
    • 0025910286 scopus 로고
    • Oncogenic conversion of transcription factors by chromosomal translocations
    • Cleary M.L. Oncogenic conversion of transcription factors by chromosomal translocations. Cell. 66:1991;619-622.
    • (1991) Cell , vol.66 , pp. 619-622
    • Cleary, M.L.1
  • 92
    • 0028180545 scopus 로고
    • Low hprt mRNA levels and multiple hprt mRNA species in 6-thioguanine-resistant Chinese hamster cell mutants possessing nonsense mutations
    • Manjanatha M.G., Lindsey L.A., Mittelstaedt R.A., Heflich R.H. Low hprt mRNA levels and multiple hprt mRNA species in 6-thioguanine-resistant Chinese hamster cell mutants possessing nonsense mutations. Mutation Res. 308:1994;65-75.
    • (1994) Mutation Res. , vol.308 , pp. 65-75
    • Manjanatha, M.G.1    Lindsey, L.A.2    Mittelstaedt, R.A.3    Heflich, R.H.4
  • 93
    • 0030973067 scopus 로고    scopus 로고
    • The association of nonsense mutation with exon-skipping in hprt mRNA of Chinese hamster ovary cells results from an artifact of RT-PCR
    • Valentine C.R., Heflich R.H. The association of nonsense mutation with exon-skipping in hprt mRNA of Chinese hamster ovary cells results from an artifact of RT-PCR. RNA. 3:1997;660-676.
    • (1997) RNA , vol.3 , pp. 660-676
    • Valentine, C.R.1    Heflich, R.H.2
  • 96
    • 0028968953 scopus 로고
    • Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese Hamster V-79 cells
    • Hennig E.E., Conney A.H., Wei S.-J.C. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese Hamster V-79 cells. Cancer Res. 55:1995;1550-1558.
    • (1995) Cancer Res. , vol.55 , pp. 1550-1558
    • Hennig, E.E.1    Conney, A.H.2    Wei, S.-J.C.3
  • 97
    • 0026531901 scopus 로고
    • Spectrum of spontaneously occurring mutations in the hprt gene of V79 Chinese hamster cells
    • Zhang L.-H., Vrieling H., van Zeeland A.A., Jenssen D. Spectrum of spontaneously occurring mutations in the hprt gene of V79 Chinese hamster cells. J. Mol. Biol. 223:1992;627-635.
    • (1992) J. Mol. Biol. , vol.223 , pp. 627-635
    • Zhang, L.-H.1    Vrieling, H.2    Van Zeeland, A.A.3    Jenssen, D.4
  • 98
    • 0028913824 scopus 로고
    • Genomic DNA sequencing of mRNA splicing mutants in the hprt gene of Chinese Hamster ovary cells
    • Valentine C.R., Heflich R.H. Genomic DNA sequencing of mRNA splicing mutants in the hprt gene of Chinese Hamster ovary cells. Environ. Mol. Mutagenesis. 25:1995;85-96.
    • (1995) Environ. Mol. Mutagenesis , vol.25 , pp. 85-96
    • Valentine, C.R.1    Heflich, R.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.