메뉴 건너뛰기




Volumn 34, Issue 16, 2006, Pages 4630-4641

Aberrant 3′ splice sites in human disease genes: Mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE;

EID: 33750142512     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkl535     Document Type: Article
Times cited : (85)

References (124)
  • 2
    • 0033966774 scopus 로고    scopus 로고
    • Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    • Ars,E., Serra,E., Garcia,J., Kruyer,H., Gaona,A., Lazaro,C. and Estivill,X. (2000) Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum. Mol. Genet., 9, 237-247.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 237-247
    • Ars, E.1    Serra, E.2    Garcia, J.3    Kruyer, H.4    Gaona, A.5    Lazaro, C.6    Estivill, X.7
  • 3
    • 15544379277 scopus 로고    scopus 로고
    • Are splicing mutations the most frequent cause of hereditary disease?
    • Lopez-Bigas,N., Audit,B., Ouzounis,C., Parra,G. and Guigo,R. (2005) Are splicing mutations the most frequent cause of hereditary disease? FEBS Lett., 579, 1900-1903.
    • (2005) FEBS Lett. , vol.579 , pp. 1900-1903
    • Lopez-Bigas, N.1    Audit, B.2    Ouzounis, C.3    Parra, G.4    Guigo, R.5
  • 4
    • 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. and Cooper,D.N. (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet., 90, 41-54.
    • (1992) Hum. Genet. , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 5
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai,K. and Sakamoto,H. (1994) Construction of a novel database containing aberrant splicing mutations of mammalian genes. Gene, 141, 171-177.
    • (1994) Gene , vol.141 , pp. 171-177
    • Nakai, K.1    Sakamoto, H.2
  • 6
    • 0030772379 scopus 로고    scopus 로고
    • The regulation of splice-site selection, and its role in human disease
    • Cooper,T.A. and Mattox,W. (1997) The regulation of splice-site selection, and its role in human disease. Am. J. Hum. Genet., 61, 259-266.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 259-266
    • Cooper, T.A.1    Mattox, W.2
  • 7
    • 0036498543 scopus 로고    scopus 로고
    • Splicing regulation as a potential genetic modifier
    • Nissim-Rafinia,M. and Kerem,B. (2002) Splicing regulation as a potential genetic modifier. Trends Genet., 18, 123-127.
    • (2002) Trends Genet. , vol.18 , pp. 123-127
    • Nissim-Rafinia, M.1    Kerem, B.2
  • 9
    • 33644765927 scopus 로고    scopus 로고
    • Variants in the human insulin gene that affect pre-mRNA splicing: Is-23HphI a functional single nucleotide polymorphism at IDDM2?
    • Královiĉová,J., Gaunt,T.R., Rodriguez,S., Wood,P.J., Day,I.N.M. and Vořechovský',I. (2006) Variants in the human insulin gene that affect pre-mRNA splicing: Is-23HphI a functional single nucleotide polymorphism at IDDM2? Diabetes, 55, 260-264.
    • (2006) Diabetes , vol.55 , pp. 260-264
    • Královiĉová, J.1    Gaunt, T.R.2    Rodriguez, S.3    Wood, P.J.4    Day, I.N.M.5    Vořechovský', I.6
  • 10
    • 0344011094 scopus 로고    scopus 로고
    • Intrinsic differences between authentic and cryptic 5′ splice sites
    • Roca,X., Sachidanandam,R. and Krainer,A.R. (2003) Intrinsic differences between authentic and cryptic 5′ splice sites. Nucleic Acids Res., 31, 6321-6333.
    • (2003) Nucleic Acids Res. , vol.31 , pp. 6321-6333
    • Roca, X.1    Sachidanandam, R.2    Krainer, A.R.3
  • 11
    • 24744464160 scopus 로고    scopus 로고
    • Biased exon/intron distribution of cryptic and de novo 3′ splice sites
    • Královičová,J., Christensen,M.B. and Vořechovský,I. (2005) Biased exon/intron distribution of cryptic and de novo 3′ splice sites. Nucleic Acids Res., 33, 4882-4898.
    • (2005) Nucleic Acids Res. , vol.33 , pp. 4882-4898
    • Královičová, J.1    Christensen, M.B.2    Vořechovský, I.3
  • 12
    • 0030696675 scopus 로고    scopus 로고
    • The splicing factor BBP interacts specifically with the pre-mRNA branchpoint sequence UACUAAC
    • Berglund,J.A., Chua,K., Abovich,N., Reed,R. and Rosbash,M. (1997) The splicing factor BBP interacts specifically with the pre-mRNA branchpoint sequence UACUAAC. Cell, 89, 781-787.
    • (1997) Cell , vol.89 , pp. 781-787
    • Berglund, J.A.1    Chua, K.2    Abovich, N.3    Reed, R.4    Rosbash, M.5
  • 13
    • 0023834880 scopus 로고
    • A factor, U2AF, is required for U2 snRNP binding and splicing complex assembly
    • Ruskin,B., Zamore,P.D. and Green,M.R. (1988) A factor, U2AF, is required for U2 snRNP binding and splicing complex assembly. Cell, 52, 207-219.
    • (1988) Cell , vol.52 , pp. 207-219
    • Ruskin, B.1    Zamore, P.D.2    Green, M.R.3
  • 14
    • 0029055472 scopus 로고
    • Distinct binding specificities and functions of higher eukaryotic polypyrimidine tract-binding proteins
    • Singh,R., Valcárcel,J. and Green,M.R. (1995) Distinct binding specificities and functions of higher eukaryotic polypyrimidine tract-binding proteins. Science, 268, 1173-1176.
    • (1995) Science , vol.268 , pp. 1173-1176
    • Singh, R.1    Valcárcel, J.2    Green, M.R.3
  • 15
    • 0033576625 scopus 로고    scopus 로고
    • Inhibition of msl-2 splicing by Sex-lethal reveals interaction between U2AF35 and the 3′ splice site AG
    • Merendino,L., Guth,S., Bilbao,D., Martinez,C. and Valcárcel,J. (1999) Inhibition of msl-2 splicing by Sex-lethal reveals interaction between U2AF35 and the 3′ splice site AG. Nature, 402, 838-841.
    • (1999) Nature , vol.402 , pp. 838-841
    • Merendino, L.1    Guth, S.2    Bilbao, D.3    Martinez, C.4    Valcárcel, J.5
  • 16
    • 0033576626 scopus 로고    scopus 로고
    • Functional recognition of the 3′ splice site AG by the splicing factor U2AF35
    • Wu,S., Romfo,C.M., Nilsen,T.W. and Green,M.R. (1999) Functional recognition of the 3′ splice site AG by the splicing factor U2AF35. Nature, 402, 832-835.
    • (1999) Nature , vol.402 , pp. 832-835
    • Wu, S.1    Romfo, C.M.2    Nilsen, T.W.3    Green, M.R.4
  • 17
    • 0033576591 scopus 로고    scopus 로고
    • Both subunits of U2AF recognize the 3′ splice site in Caenorhabditis elegans
    • Zorio,D.A. and Blumenthal,T. (1999) Both subunits of U2AF recognize the 3′ splice site in Caenorhabditis elegans. Nature, 402, 835-838.
    • (1999) Nature , vol.402 , pp. 835-838
    • Zorio, D.A.1    Blumenthal, T.2
  • 18
    • 0024808994 scopus 로고
    • The organization of 3′ splice-site sequences in mammalian introns
    • Reed,R. (1989) The organization of 3′ splice-site sequences in mammalian introns. Genes Dev., 3, 2113-2123.
    • (1989) Genes Dev. , vol.3 , pp. 2113-2123
    • Reed, R.1
  • 19
    • 0027214101 scopus 로고
    • Scanning and competition between AGs are involved in 3′ splice site selection in mammalian introns
    • Smith,C.W., Chu,T.T. and Nadal-Ginard,B. (1993) Scanning and competition between AGs are involved in 3′ splice site selection in mammalian introns. Mol. Cell. Biol., 13, 4939-4952.
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 4939-4952
    • Smith, C.W.1    Chu, T.T.2    Nadal-Ginard, B.3
  • 20
    • 0024100723 scopus 로고
    • The role of the mammalian branchpoint sequence in pre-mRNA splicing
    • Reed,R. and Maniatis,T. (1988) The role of the mammalian branchpoint sequence in pre-mRNA splicing. Genes Dev., 2, 1268-1276.
    • (1988) Genes Dev. , vol.2 , pp. 1268-1276
    • Reed, R.1    Maniatis, T.2
  • 21
    • 20444470310 scopus 로고    scopus 로고
    • Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation
    • Kol,G., Lev-Maor,G. and Ast,G. (2005) Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation. Hum. Mol. Genet., 14, 1559-1568.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1559-1568
    • Kol, G.1    Lev-Maor, G.2    Ast, G.3
  • 22
    • 33745048938 scopus 로고    scopus 로고
    • A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones
    • Gooding,C., Clark,F., Wollerton,M., Grellscheid,S.-N., Groom,H. and Smith,C.W. (2006) A class of human exons with predicted distant branch points revealed by analysis of AG dinucleotide exclusion zones. Genome Biol., 7, R1.
    • (2006) Genome Biol. , vol.7
    • Gooding, C.1    Clark, F.2    Wollerton, M.3    Grellscheid, S.-N.4    Groom, H.5    Smith, C.W.6
  • 23
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro,M.B. and Senapathy,P. (1987) RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
    • (1987) Nucleic Acids Res. , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 24
    • 0025321246 scopus 로고
    • Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project
    • Senapathy,P., Shapiro,M.B. and Harris,N.L. (1990) Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project. Methods Enzymol., 183, 252-278.
    • (1990) Methods Enzymol. , vol.183 , pp. 252-278
    • Senapathy, P.1    Shapiro, M.B.2    Harris, N.L.3
  • 25
    • 0025744474 scopus 로고
    • Prediction of human mRNA donor and acceptor sites from the DNA sequence
    • Brunak,S., Engelbrecht,J. and Knudsen,S. (1991) Prediction of human mRNA donor and acceptor sites from the DNA sequence. J. Mol. Biol., 220, 49-65.
    • (1991) J. Mol. Biol. , vol.220 , pp. 49-65
    • Brunak, S.1    Engelbrecht, J.2    Knudsen, S.3
  • 27
    • 0031880376 scopus 로고    scopus 로고
    • Information analysis of human splice site mutations
    • Rogan,P.K., Faux,B.M. and Schneider,T.D. (1998) Information analysis of human splice site mutations. Hum. Mutat., 12, 153-171.
    • (1998) Hum. Mutat. , vol.12 , pp. 153-171
    • Rogan, P.K.1    Faux, B.M.2    Schneider, T.D.3
  • 28
    • 2442441507 scopus 로고    scopus 로고
    • Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
    • Yeo,G. and Burge,C.B. (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol., 11, 377-394.
    • (2004) J. Comput. Biol. , vol.11 , pp. 377-394
    • Yeo, G.1    Burge, C.B.2
  • 29
    • 0034142204 scopus 로고    scopus 로고
    • Positional characterisation of false positives from computational prediction of human splice sites
    • Thanaraj,T.A. (2000) Positional characterisation of false positives from computational prediction of human splice sites. Nucleic Acids Res., 28, 744-754.
    • (2000) Nucleic Acids Res. , vol.28 , pp. 744-754
    • Thanaraj, T.A.1
  • 31
    • 31544473503 scopus 로고    scopus 로고
    • Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing
    • Hiller,M., Huse,K., Szafranski,K., Jahn,N., Hampe,J., Schreiber,S., Backofen,R. and Platzer,M. (2006) Single-nucleotide polymorphisms in NAGNAG acceptors are highly predictive for variations of alternative splicing. Am. J. Hum. Genet., 78, 291-302.
    • (2006) Am. J. Hum. Genet. , vol.78 , pp. 291-302
    • Hiller, M.1    Huse, K.2    Szafranski, K.3    Jahn, N.4    Hampe, J.5    Schreiber, S.6    Backofen, R.7    Platzer, M.8
  • 32
    • 4644221304 scopus 로고    scopus 로고
    • Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin
    • Bendig,I., Mohr,N., Krämer,F. and Weber,B.H. (2004) Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin. Cancer Genet. Cytogenet., 154, 22-26.
    • (2004) Cancer Genet. Cytogenet. , vol.154 , pp. 22-26
    • Bendig, I.1    Mohr, N.2    Krämer, F.3    Weber, B.H.4
  • 33
    • 0026356066 scopus 로고
    • The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel
    • Newman,P.J., Seligsohn,U., Lyman,S. and Coller,B.S. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. Proc. Natl Acad. Sci. USA, 88, 3160-3164.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 3160-3164
    • Newman, P.J.1    Seligsohn, U.2    Lyman, S.3    Coller, B.S.4
  • 34
    • 0347988093 scopus 로고    scopus 로고
    • Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: Maximum entropy estimates of splice junction strengths
    • Eng,L., Coutinho,G., Nahas,S., Yeo,G., Tanouye,R., Babaei,M., Dork,T., Burge,C. and Gatti,R.A. (2004) Nonclassical splicing mutations in the coding and noncoding regions of the ATM gene: Maximum entropy estimates of splice junction strengths. Hum. Mutat., 23, 67-76.
    • (2004) Hum. Mutat. , vol.23 , pp. 67-76
    • Eng, L.1    Coutinho, G.2    Nahas, S.3    Yeo, G.4    Tanouye, R.5    Babaei, M.6    Dork, T.7    Burge, C.8    Gatti, R.A.9
  • 35
    • 20544458054 scopus 로고    scopus 로고
    • A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors
    • Chen,L.L., Sabripour,M., Wu,E.F., Prieto,V.G., Fuller,G.N. and Frazier,M.L. (2005) A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors. Oncogene, 24, 4271-4280.
    • (2005) Oncogene , vol.24 , pp. 4271-4280
    • Chen, L.L.1    Sabripour, M.2    Wu, E.F.3    Prieto, V.G.4    Fuller, G.N.5    Frazier, M.L.6
  • 36
    • 16944363423 scopus 로고    scopus 로고
    • Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation
    • Hovnanian,A., Rochat,A., Bodemer,C., Petit,E., Rivers,C.A., Prost,C., Fraitag,S., Christiano,A.M., Uitto,J., Lathrop,M. et al. (1997) Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Am. J. Hum. Genet., 61, 599-610.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 599-610
    • Hovnanian, A.1    Rochat, A.2    Bodemer, C.3    Petit, E.4    Rivers, C.A.5    Prost, C.6    Fraitag, S.7    Christiano, A.M.8    Uitto, J.9    Lathrop, M.10
  • 38
    • 0034028409 scopus 로고    scopus 로고
    • Aberrant splicing of the ATM gene associated with shortening of the intronic mononucleotide tract in human colon tumor cell lines: A novel mutation target of microsatellite instability
    • Ejima,Y., Yang,L. and Sasaki,M.S. (2000) Aberrant splicing of the ATM gene associated with shortening of the intronic mononucleotide tract in human colon tumor cell lines: A novel mutation target of microsatellite instability. Int. J. Cancer, 86, 262-268.
    • (2000) Int. J. Cancer , vol.86 , pp. 262-268
    • Ejima, Y.1    Yang, L.2    Sasaki, M.S.3
  • 40
    • 0029788884 scopus 로고    scopus 로고
    • Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: A rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism
    • Webb,J.C., Patel,D.D., Shoulders,C.C., Knight,B.L. and Soutar,A.K. (1996) Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: A rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism. Hum. Mol. Genet., 5, 1325-1331.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1325-1331
    • Webb, J.C.1    Patel, D.D.2    Shoulders, C.C.3    Knight, B.L.4    Soutar, A.K.5
  • 41
    • 33344474514 scopus 로고    scopus 로고
    • Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries
    • Ohno,K., Tsujino,A., Shen,X.M., Milone,M. and Engel,A.G. (2005) Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries. J. Med. Genet., 42, e53.
    • (2005) J. Med. Genet. , vol.42
    • Ohno, K.1    Tsujino, A.2    Shen, X.M.3    Milone, M.4    Engel, A.G.5
  • 42
    • 0026071565 scopus 로고
    • A 17-bp insertion and a Phe215Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34
    • Fisher,C.W., Lau,K.S., Fisher,C.R., Wynn,R.M., Cox,R.P. and Chuang,D.T. (1991) A 17-bp insertion and a Phe215Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34. Biochem. Biophys. Res. Commun., 174, 804-809.
    • (1991) Biochem. Biophys. Res. Commun. , vol.174 , pp. 804-809
    • Fisher, C.W.1    Lau, K.S.2    Fisher, C.R.3    Wynn, R.M.4    Cox, R.P.5    Chuang, D.T.6
  • 45
    • 23844507752 scopus 로고    scopus 로고
    • Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy patients
    • Podkrajšek,K.T., Bratanič,N., Kržišnik,C. and Battelino,T. (2005) Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy patients. J. Clin. Endocrinol. Metab., 90, 4930-4935.
    • (2005) J. Clin. Endocrinol. Metab. , vol.90 , pp. 4930-4935
    • Podkrajšek, K.T.1    Bratanič, N.2    Kržišnik, C.3    Battelino, T.4
  • 46
    • 0031744766 scopus 로고    scopus 로고
    • The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome
    • Smyth,I., Wicking,C., Wainwright,B. and Chenevix-Trench,G. (1998) The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome. Hum. Genet., 102, 598-601.
    • (1998) Hum. Genet. , vol.102 , pp. 598-601
    • Smyth, I.1    Wicking, C.2    Wainwright, B.3    Chenevix-Trench, G.4
  • 48
    • 0029941720 scopus 로고    scopus 로고
    • Single base-pair substitutions in pathology and evolution: Two sides to the same coin
    • Krawczak,M. and Cooper,D.N. (1996) Single base-pair substitutions in pathology and evolution: Two sides to the same coin. Hum. Mutat., 8, 23-31.
    • (1996) Hum. Mutat. , vol.8 , pp. 23-31
    • Krawczak, M.1    Cooper, D.N.2
  • 49
    • 0027408848 scopus 로고
    • Evidence for an essential non-Watson-Crick interaction between the first and last nucleotides of a nuclear pre-mRNA intron
    • Parker,R. and Siliciano,P.G. (1993) Evidence for an essential non-Watson-Crick interaction between the first and last nucleotides of a nuclear pre-mRNA intron. Nature, 361, 660-662.
    • (1993) Nature , vol.361 , pp. 660-662
    • Parker, R.1    Siliciano, P.G.2
  • 50
    • 24044457307 scopus 로고    scopus 로고
    • A mutational analysis of U12-dependent splice site dinucleotides
    • Dietrich,R.C., Fuller,J.D. and Padgett,R.A. (2005) A mutational analysis of U12-dependent splice site dinucleotides. RNA, 11, 1430-1440.
    • (2005) RNA , vol.11 , pp. 1430-1440
    • Dietrich, R.C.1    Fuller, J.D.2    Padgett, R.A.3
  • 51
    • 0029069220 scopus 로고
    • Interactions between the terminal bases of mammalian introns are retained in inosine-containing pre-mRNAs
    • Deirdre,A., Scadden,J. and Smith,C.W. (1995) Interactions between the terminal bases of mammalian introns are retained in inosine-containing pre-mRNAs. EMBO J., 14, 3236-3246.
    • (1995) EMBO J. , vol.14 , pp. 3236-3246
    • Deirdre, A.1    Scadden, J.2    Smith, C.W.3
  • 52
    • 0034602779 scopus 로고    scopus 로고
    • Role of adenine functional groups in the recognition of the 3′-splice-site AG during the second step of pre-mRNA splicing
    • Gaur,R.K., Beigelman,L., Haeberli,P. and Maniatis,T. (2000) Role of adenine functional groups in the recognition of the 3′-splice-site AG during the second step of pre-mRNA splicing. Proc. Natl Acad. Sci. USA, 97, 115-120.
    • (2000) Proc. Natl Acad. Sci. USA , vol.97 , pp. 115-120
    • Gaur, R.K.1    Beigelman, L.2    Haeberli, P.3    Maniatis, T.4
  • 54
    • 20144389631 scopus 로고    scopus 로고
    • Variation in antiviral 2′,5′-oligoadenylate synthetase (2′5′AS) enzyme activity is controlled by a single-nucleotide polymorphism at a splice-acceptor site in the OAS1 Gene
    • Bonnevie-Nielsen,V., Leigh Field,L., Lu,S., Zheng,D.J., Li,M., Martensen,P.M., Nielsen,T.B., Beck-Nielsen,H., Lau,Y.L. and Pociot,F. (2005) Variation in antiviral 2′,5′-oligoadenylate synthetase (2′5′AS) enzyme activity is controlled by a single-nucleotide polymorphism at a splice-acceptor site in the OAS1 Gene. Am. J. Hum. Genet., 76, 623-633.
    • (2005) Am. J. Hum. Genet. , vol.76 , pp. 623-633
    • Bonnevie-Nielsen, V.1    Leigh Field, L.2    Lu, S.3    Zheng, D.J.4    Li, M.5    Martensen, P.M.6    Nielsen, T.B.7    Beck-Nielsen, H.8    Lau, Y.L.9    Pociot, F.10
  • 56
    • 0025941618 scopus 로고
    • A 3′ splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease
    • Yokoi,T., Shinoda,K., Ohno,I., Kato,K., Miyawaki,T. and Taniguchi,N. (1991) A 3′ splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease. Jinrui Idengaku Zasshi, 36, 245-250.
    • (1991) Jinrui Idengaku Zasshi , vol.36 , pp. 245-250
    • Yokoi, T.1    Shinoda, K.2    Ohno, I.3    Kato, K.4    Miyawaki, T.5    Taniguchi, N.6
  • 57
    • 17744401632 scopus 로고    scopus 로고
    • Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146
    • Matsumura,T., Osaka,H., Sugiyama,N., Kawanishi,C., Maruyama,Y., Suzuki,K., Onishi,H., Yamada,Y., Morita,M., Aoki,M. et al. (1998) Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Hum. Mutat., 11, 483.
    • (1998) Hum. Mutat. , vol.11 , pp. 483
    • Matsumura, T.1    Osaka, H.2    Sugiyama, N.3    Kawanishi, C.4    Maruyama, Y.5    Suzuki, K.6    Onishi, H.7    Yamada, Y.8    Morita, M.9    Aoki, M.10
  • 58
    • 0026607344 scopus 로고
    • Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene
    • Steingrimsdottir,H., Rowley,G., Dorado,G., Cole,J. and Lehmann,A.R. (1992) Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene. Nucleic Acids Res., 20, 1201-1208.
    • (1992) Nucleic Acids Res. , vol.20 , pp. 1201-1208
    • Steingrimsdottir, H.1    Rowley, G.2    Dorado, G.3    Cole, J.4    Lehmann, A.R.5
  • 60
    • 3042823866 scopus 로고    scopus 로고
    • A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa
    • Xia,K., Zheng,D., Pan,Q., Liu,Z., Xi,X., Hu,Z., Deng,H., Liu,X., Jiang,D., Deng,H. et al. (2004) A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Mol. Vis., 10, 361-365.
    • (2004) Mol. Vis. , vol.10 , pp. 361-365
    • Xia, K.1    Zheng, D.2    Pan, Q.3    Liu, Z.4    Xi, X.5    Hu, Z.6    Deng, H.7    Liu, X.8    Jiang, D.9    Deng, H.10
  • 61
    • 27244452774 scopus 로고    scopus 로고
    • Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa
    • Pasmooij,A.M., Pas,H.H., Deviaene,F.C., Nijenhuis,M. and Jonkman,M.F. (2005) Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa. Am. J. Hum. Genet., 77, 727-740.
    • (2005) Am. J. Hum. Genet. , vol.77 , pp. 727-740
    • Pasmooij, A.M.1    Pas, H.H.2    Deviaene, F.C.3    Nijenhuis, M.4    Jonkman, M.F.5
  • 62
    • 32444445017 scopus 로고    scopus 로고
    • Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene
    • Schimpf,S., Schaich,S. and Wissinger,B. (2005) Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene. Hum. Genet., 118, 767-771.
    • (2005) Hum. Genet. , vol.118 , pp. 767-771
    • Schimpf, S.1    Schaich, S.2    Wissinger, B.3
  • 63
    • 0037386191 scopus 로고    scopus 로고
    • Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA
    • Rickard,S.J. and Wilson,L.C. (2003) Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. Am. J. Hum. Genet., 72, 961-974.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 961-974
    • Rickard, S.J.1    Wilson, L.C.2
  • 64
    • 0029075651 scopus 로고
    • The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients
    • Schloesser,M., Hofferbert,S., Bartz,U., Lutze,G., Lammle,B. and Engel,W. (1995) The novel acceptor splice site mutation 11396(G→A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. Hum. Mol. Genet., 4, 1235-1237.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1235-1237
    • Schloesser, M.1    Hofferbert, S.2    Bartz, U.3    Lutze, G.4    Lammle, B.5    Engel, W.6
  • 65
    • 0031215460 scopus 로고    scopus 로고
    • Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: Exon skipping and one base insertion
    • Weber,Y., Steinberger,D., Deuschl,G., Benecke,R. and Muller,U. (1997) Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: Exon skipping and one base insertion. Neurogenetics, 1, 125-127.
    • (1997) Neurogenetics , vol.1 , pp. 125-127
    • Weber, Y.1    Steinberger, D.2    Deuschl, G.3    Benecke, R.4    Muller, U.5
  • 66
    • 0033631007 scopus 로고    scopus 로고
    • A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation
    • Hartikainen,J.M., Pirskanen,M.M., Arffman,A.H., Ristonmaa,U.K. and Mannermaa,A.J. (2000) A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation. Hum. Mutat., 15, 120.
    • (2000) Hum. Mutat. , vol.15 , pp. 120
    • Hartikainen, J.M.1    Pirskanen, M.M.2    Arffman, A.H.3    Ristonmaa, U.K.4    Mannermaa, A.J.5
  • 67
    • 0032212402 scopus 로고    scopus 로고
    • Mutations that alter RNA splicing of the human HPRT gene: A review of the spectrum
    • O'Neill,J.P., Rogan,P.K., Cariello,N. and Nicklas,J.A. (1998) Mutations that alter RNA splicing of the human HPRT gene: A review of the spectrum. Mutat. Res., 411, 179-214.
    • (1998) Mutat. Res. , vol.411 , pp. 179-214
    • O'Neill, J.P.1    Rogan, P.K.2    Cariello, N.3    Nicklas, J.A.4
  • 68
    • 20344399159 scopus 로고    scopus 로고
    • Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene
    • Nichols,K.E., Houseknecht,M.D., Godmilow,L., Bunin,G., Shields,C., Meadows,A. and Ganguly,A. (2005) Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Hum. Mutat., 25, 566-574.
    • (2005) Hum. Mutat. , vol.25 , pp. 566-574
    • Nichols, K.E.1    Houseknecht, M.D.2    Godmilow, L.3    Bunin, G.4    Shields, C.5    Meadows, A.6    Ganguly, A.7
  • 70
    • 0033233482 scopus 로고    scopus 로고
    • The molecular basis of Sjögren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene
    • Rizzo,W.B., Carney,G. and Lin,Z. (1999) The molecular basis of Sjögren-Larsson syndrome: Mutation analysis of the fatty aldehyde dehydrogenase gene. Am. J. Hum. Genet., 65, 1547-1560.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1547-1560
    • Rizzo, W.B.1    Carney, G.2    Lin, Z.3
  • 71
    • 0012394986 scopus 로고    scopus 로고
    • RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient
    • Beghini,A., Castorina,P., Roversi,G., Modiano,P. and Larizza,L. (2003) RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient. Am J. Med. Genet. A, 120, 395-399.
    • (2003) Am J. Med. Genet. A , vol.120 , pp. 395-399
    • Beghini, A.1    Castorina, P.2    Roversi, G.3    Modiano, P.4    Larizza, L.5
  • 72
    • 0033764596 scopus 로고    scopus 로고
    • p53 intronic point mutation, aberrant splicing and telomeric associations in a case of B-chronic lymphocytic leukaemia
    • Bromidge,T., Lowe,C., Prentice,A. and Johnson,S. (2000) p53 intronic point mutation, aberrant splicing and telomeric associations in a case of B-chronic lymphocytic leukaemia. Br. J. Haematol., 111, 223-229.
    • (2000) Br. J. Haematol. , vol.111 , pp. 223-229
    • Bromidge, T.1    Lowe, C.2    Prentice, A.3    Johnson, S.4
  • 73
    • 0029910219 scopus 로고    scopus 로고
    • Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection
    • Jin,Y., Dietz,H.C., Montgomery,R.A., Bell,W.R., McIntosh,I., Coller,B. and Bray,P.F. (1996) Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection. J. Clin. Invest., 98, 1745-1754.
    • (1996) J. Clin. Invest. , vol.98 , pp. 1745-1754
    • Jin, Y.1    Dietz, H.C.2    Montgomery, R.A.3    Bell, W.R.4    McIntosh, I.5    Coller, B.6    Bray, P.F.7
  • 75
    • 61649085735 scopus 로고    scopus 로고
    • Modeling dependencies in pre-mRNA splicing signals
    • In Salzberg,S. L., Searls,D. B. and Kasif,S. (eds), Elsevier Science, Amsterdam
    • Burge,C.B. (1998) Modeling dependencies in pre-mRNA splicing signals. In Salzberg,S. L., Searls,D. B. and Kasif,S. (eds), Computational methods in molecular biology. Elsevier Science, Amsterdam, pp. 129-164.
    • (1998) Computational Methods in Molecular Biology , pp. 129-164
    • Burge, C.B.1
  • 76
    • 13944280200 scopus 로고    scopus 로고
    • U2AF binding selects for the high conservation of the C. elegans 3′ splice site
    • Hollins,C., Zorio,D.A., MacMorris,M. and Blumenthal,T. (2005) U2AF binding selects for the high conservation of the C. elegans 3′ splice site. RNA, 11, 248-253.
    • (2005) RNA , vol.11 , pp. 248-253
    • Hollins, C.1    Zorio, D.A.2    MacMorris, M.3    Blumenthal, T.4
  • 77
    • 0029785180 scopus 로고    scopus 로고
    • Interaction of U2AF65 RS region with pre-mRNA branch point and promotion of base pairing with U2 snRNA
    • Erratum in
    • Valcárcel,J., Gaur,R.K., Singh,R. and Green,M.R. (1996) Interaction of U2AF65 RS region with pre-mRNA branch point and promotion of base pairing with U2 snRNA. Erratum in: Science, 274, 21.
    • (1996) Science , vol.274 , pp. 21
    • Valcárcel, J.1    Gaur, R.K.2    Singh, R.3    Green, M.R.4
  • 78
    • 1242316952 scopus 로고    scopus 로고
    • Arginine-serine-rich domains bound at splicing enhancers contact the branchpoint to promote prespliceosome assembly
    • Shen,H., Kan,J.L. and Green,M.R. (2004) Arginine-serine-rich domains bound at splicing enhancers contact the branchpoint to promote prespliceosome assembly. Mol. Cell, 13, 367-376.
    • (2004) Mol. Cell , vol.13 , pp. 367-376
    • Shen, H.1    Kan, J.L.2    Green, M.R.3
  • 79
    • 33745609509 scopus 로고    scopus 로고
    • RS domains contact splicing signals and promote splicing by a common mechanism in yeast through humans
    • Shen,H. and Green,M.R. (2006) RS domains contact splicing signals and promote splicing by a common mechanism in yeast through humans. Genes Dev., 20, 1755-1765.
    • (2006) Genes Dev. , vol.20 , pp. 1755-1765
    • Shen, H.1    Green, M.R.2
  • 82
    • 0024744567 scopus 로고
    • A compensatory base change in human U2 snRNA can suppress a branch site mutation
    • Zhuang,Y. and Weiner,A.M. (1989) A compensatory base change in human U2 snRNA can suppress a branch site mutation. Genes Dev., 3, 1545-1552.
    • (1989) Genes Dev. , vol.3 , pp. 1545-1552
    • Zhuang, Y.1    Weiner, A.M.2
  • 83
    • 0024743838 scopus 로고
    • Mammalian pre-mRNA branch site selection by U2 snRNP involves base pairing
    • Wu,J. and Manley,J.L. (1989) Mammalian pre-mRNA branch site selection by U2 snRNP involves base pairing. Genes Dev., 3, 1553-1561.
    • (1989) Genes Dev. , vol.3 , pp. 1553-1561
    • Wu, J.1    Manley, J.L.2
  • 84
    • 0020050314 scopus 로고
    • A catalogue of splice junction sequences
    • Mount,S.M. (1982) A catalogue of splice junction sequences. Nucleic Acids Res., 10, 459-472.
    • (1982) Nucleic Acids Res. , vol.10 , pp. 459-472
    • Mount, S.M.1
  • 85
    • 2942541354 scopus 로고    scopus 로고
    • Feature selection for splice site prediction: A new method using EDA-based feature ranking
    • Saeys,Y., Degroeve,S., Aeyels,D., Rouze,P. and Van de Peer,Y. (2004) Feature selection for splice site prediction: A new method using EDA-based feature ranking. BMC Bioinformatics, 5, 64.
    • (2004) BMC Bioinformatics , vol.5 , pp. 64
    • Saeys, Y.1    Degroeve, S.2    Aeyels, D.3    Rouze, P.4    Van de Peer, Y.5
  • 86
    • 8144225362 scopus 로고    scopus 로고
    • Variation in sequence and organization of splicing regulatory elements in vertebrate genes
    • Yeo,G., Hoon,S., Venkatesh,B. and Burge,C.B. (2004) Variation in sequence and organization of splicing regulatory elements in vertebrate genes. Proc. Natl Acad. Sci. USA, 101, 15000-15005.
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , pp. 15000-15005
    • Yeo, G.1    Hoon, S.2    Venkatesh, B.3    Burge, C.B.4
  • 87
    • 0037279013 scopus 로고    scopus 로고
    • Sex lethal and U2 small nuclear ribonucleoprotein auxiliary factor (U2AF65) recognize polypyrimidine tracts using multiple modes of binding
    • Banerjee,H., Rahn,A., Davis,W. and Singh,R. (2003) Sex lethal and U2 small nuclear ribonucleoprotein auxiliary factor (U2AF65) recognize polypyrimidine tracts using multiple modes of binding. RNA, 9, 88-99.
    • (2003) RNA , vol.9 , pp. 88-99
    • Banerjee, H.1    Rahn, A.2    Davis, W.3    Singh, R.4
  • 89
    • 0027233694 scopus 로고
    • A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing
    • Roscigno,R.F., Weiner,M. and Garcia-Blanco,M.A. (1993) A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing. J. Biol. Chem., 268, 11222-11229.
    • (1993) J. Biol. Chem. , vol.268 , pp. 11222-11229
    • Roscigno, R.F.1    Weiner, M.2    Garcia-Blanco, M.A.3
  • 90
    • 0034098296 scopus 로고    scopus 로고
    • Differential recognition of the polypyrimidine-tract by the general splicing factor U2AF65 and the splicing repressor sex-lethal
    • Singh,R., Banerjee,H. and Green,M.R. (2000) Differential recognition of the polypyrimidine-tract by the general splicing factor U2AF65 and the splicing repressor sex-lethal. RNA, 6, 901-911.
    • (2000) RNA , vol.6 , pp. 901-911
    • Singh, R.1    Banerjee, H.2    Green, M.R.3
  • 91
    • 0024470631 scopus 로고
    • Scanning from an independently specified branch point defines the 30 splice site of mammalian introns
    • Smith,C.W., Porro,E.B., Patton,J.G. and Nadal-Ginard,B. (1989) Scanning from an independently specified branch point defines the 30 splice site of mammalian introns. Nature, 342, 243-247.
    • (1989) Nature , vol.342 , pp. 243-247
    • Smith, C.W.1    Porro, E.B.2    Patton, J.G.3    Nadal-Ginard, B.4
  • 92
    • 33745499067 scopus 로고    scopus 로고
    • Structural basis for polypyrimidine tract recognition by the essential pre-mRNA splicing factor U2AF65
    • Sickmier,E.A., Frato,K.E., Shen,H., Paranawithana,S.R., Green,M.R. and Kielkopf,C.L. (2006) Structural basis for polypyrimidine tract recognition by the essential pre-mRNA splicing factor U2AF65. Mol. Cell, 23, 49-59.
    • (2006) Mol. Cell , vol.23 , pp. 49-59
    • Sickmier, E.A.1    Frato, K.E.2    Shen, H.3    Paranawithana, S.R.4    Green, M.R.5    Kielkopf, C.L.6
  • 93
    • 0032973922 scopus 로고    scopus 로고
    • Supravalvular aortic stenosis: A splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts
    • Urban,Z., Michels,V.V., Thibodeau,S.N., Donis-Keller,H., Csiszar,K. and Boyd,C.D. (1999) Supravalvular aortic stenosis: A splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. Hum. Genet., 104, 135-142.
    • (1999) Hum. Genet. , vol.104 , pp. 135-142
    • Urban, Z.1    Michels, V.V.2    Thibodeau, S.N.3    Donis-Keller, H.4    Csiszar, K.5    Boyd, C.D.6
  • 95
    • 0031723896 scopus 로고    scopus 로고
    • Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3′-splice site selection and cause Sandhoff disease
    • Fujimaru,M., Tanaka,A., Choeh,K., Wakamatsu,N., Sakuraba,H. and Isshiki,G. (1998) Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3′-splice site selection and cause Sandhoff disease. Hum. Genet., 103, 462-469.
    • (1998) Hum. Genet. , vol.103 , pp. 462-469
    • Fujimaru, M.1    Tanaka, A.2    Choeh, K.3    Wakamatsu, N.4    Sakuraba, H.5    Isshiki, G.6
  • 96
    • 24144463761 scopus 로고    scopus 로고
    • A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy
    • Lucarini,L., Giusti,B., Zhang,R.Z., Pan,T.C., Jimenez-Mallebrera,C., Mercuri,E., Muntoni,F., Pepe,G. and Chu,M.L. (2005) A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy. Hum. Genet., 117, 460-466.
    • (2005) Hum. Genet. , vol.117 , pp. 460-466
    • Lucarini, L.1    Giusti, B.2    Zhang, R.Z.3    Pan, T.C.4    Jimenez-Mallebrera, C.5    Mercuri, E.6    Muntoni, F.7    Pepe, G.8    Chu, M.L.9
  • 97
    • 0034670066 scopus 로고    scopus 로고
    • Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences
    • Mayer,K., Ballhausen,W., Leistner,W. and Rott,H. (2000) Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences. Biochim. Biophys. Acta, 1502, 495-507.
    • (2000) Biochim. Biophys. Acta , vol.1502 , pp. 495-507
    • Mayer, K.1    Ballhausen, W.2    Leistner, W.3    Rott, H.4
  • 99
    • 0035133535 scopus 로고    scopus 로고
    • An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing
    • Chua,K. and Reed,R. (2001) An upstream AG determines whether a downstream AG is selected during catalytic step II of splicing. Mol. Cell. Biol., 21, 1509-1514.
    • (2001) Mol. Cell. Biol. , vol.21 , pp. 1509-1514
    • Chua, K.1    Reed, R.2
  • 101
    • 0023189466 scopus 로고
    • The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene
    • Cladaras,C., Hadzopoulou-Cladaras,M., Felber,B.K., Pavlakis,G. and Zannis,V.I. (1987) The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene. J. Biol. Chem., 262, 2310-2315.
    • (1987) J. Biol. Chem. , vol.262 , pp. 2310-2315
    • Cladaras, C.1    Hadzopoulou-Cladaras, M.2    Felber, B.K.3    Pavlakis, G.4    Zannis, V.I.5
  • 103
    • 0022423151 scopus 로고
    • Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site
    • Atweh,G.F., Anagnou,N.P., Shearin,J., Forget,B.G. and Kaufman,R.E. (1985) Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site. Nucleic Acids Res., 13, 777-790.
    • (1985) Nucleic Acids Res. , vol.13 , pp. 777-790
    • Atweh, G.F.1    Anagnou, N.P.2    Shearin, J.3    Forget, B.G.4    Kaufman, R.E.5
  • 104
    • 0024592813 scopus 로고
    • Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene
    • Wong,C., Antonarakis,S.E., Goff,S.C., Orkin,S.H., Forget,B.G., Nathan,D.G., Giardina,P.J. and Kazazian,H.H.,Jr (1989) Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene. Blood, 73, 914-918.
    • (1989) Blood , vol.73 , pp. 914-918
    • Wong, C.1    Antonarakis, S.E.2    Goff, S.C.3    Orkin, S.H.4    Forget, B.G.5    Nathan, D.G.6    Giardina, P.J.7    Kazazian Jr., H.H.8
  • 105
    • 0032030953 scopus 로고    scopus 로고
    • Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity
    • Otterness,D.M., Szumlanski,C.L., Wood,T.C. and Weinshilboum,R.M. (1998) Human thiopurine methyltransferase pharmacogenetics. Kindred with a terminal exon splice junction mutation that results in loss of activity. J. Clin. Invest., 101, 1036-1044.
    • (1998) J. Clin. Invest. , vol.101 , pp. 1036-1044
    • Otterness, D.M.1    Szumlanski, C.L.2    Wood, T.C.3    Weinshilboum, R.M.4
  • 108
    • 0031907861 scopus 로고    scopus 로고
    • Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa
    • Darling,T.N., Yee,C., Koh,B., McGrath,J.A., Bauer,J.W., Uitto,J., Hintner,H. and Yancey,K.B. (1998) Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa. J. Invest. Dermatol., 110, 165-169.
    • (1998) J. Invest. Dermatol. , vol.110 , pp. 165-169
    • Darling, T.N.1    Yee, C.2    Koh, B.3    McGrath, J.A.4    Bauer, J.W.5    Uitto, J.6    Hintner, H.7    Yancey, K.B.8
  • 109
  • 110
    • 0035918139 scopus 로고    scopus 로고
    • COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II
    • Bouma,P., Cabral,W.A., Cole,W.G. and Marini,J.C. (2001) COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II. J. Biol. Chem., 276, 13356-13364.
    • (2001) J. Biol. Chem. , vol.276 , pp. 13356-13364
    • Bouma, P.1    Cabral, W.A.2    Cole, W.G.3    Marini, J.C.4
  • 111
    • 0034738970 scopus 로고    scopus 로고
    • Novel p53 splice site mutations in three families with Li-Fraumeni syndrome
    • Verselis,S.J., Rheinwald,J.G., Fraumeni,J.F.,Jr and Li,F.P. (2000) Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. Oncogene, 19, 4230-4235.
    • (2000) Oncogene , vol.19 , pp. 4230-4235
    • Verselis, S.J.1    Rheinwald, J.G.2    Fraumeni Jr., J.F.3    Li, F.P.4
  • 112
    • 0033912292 scopus 로고    scopus 로고
    • Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene
    • Vockley,J., Rogan,P.K., Anderson,B.D., Willard,J., Seelan,R.S., Smith,D.I. and Liu,W. (2000) Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. Am. J. Hum. Genet., 66, 356-367.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 356-367
    • Vockley, J.1    Rogan, P.K.2    Anderson, B.D.3    Willard, J.4    Seelan, R.S.5    Smith, D.I.6    Liu, W.7
  • 113
    • 0033364823 scopus 로고    scopus 로고
    • Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor
    • Mardy,S., Miura,Y., Endo,F., Matsuda,I., Sztriha,L., Frossard,P., Moosa,A., Ismail,E.A., Macaya,A., Andria,G. et al. (1999) Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am. J. Hum. Genet., 64, 1570-1579.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1570-1579
    • Mardy, S.1    Miura, Y.2    Endo, F.3    Matsuda, I.4    Sztriha, L.5    Frossard, P.6    Moosa, A.7    Ismail, E.A.8    Macaya, A.9    Andria, G.10
  • 114
    • 0033994824 scopus 로고    scopus 로고
    • Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S
    • Teng,Y.N., Wang,T.R., Hwu,W.L., Lin,S.P. and Lee-Chen,G.J. (2000) Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. Clin. Genet., 57, 131-136.
    • (2000) Clin. Genet. , vol.57 , pp. 131-136
    • Teng, Y.N.1    Wang, T.R.2    Hwu, W.L.3    Lin, S.P.4    Lee-Chen, G.J.5
  • 115
    • 20944446411 scopus 로고    scopus 로고
    • DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy
    • Hamed,S., Sutherland-Smith,A., Gorospe,J., Kendrick-Jones,J. and Hoffman,E. (2005) DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy. Clin. Genet., 68, 69-79.
    • (2005) Clin. Genet. , vol.68 , pp. 69-79
    • Hamed, S.1    Sutherland-Smith, A.2    Gorospe, J.3    Kendrick-Jones, J.4    Hoffman, E.5
  • 117
    • 0026039804 scopus 로고
    • Selection of splice sites in pre-mRNAs with short internal exons
    • Dominski,Z. and Kole,R. (1991) Selection of splice sites in pre-mRNAs with short internal exons. Mol. Cell. Biol., 11, 6075-6083.
    • (1991) Mol. Cell. Biol. , vol.11 , pp. 6075-6083
    • Dominski, Z.1    Kole, R.2
  • 118
    • 0033361938 scopus 로고    scopus 로고
    • High frequency of large intragenic deletions in the Fanconi anemia group A gene
    • Morgan,N.V., Tipping,A.J., Joenje,H. and Mathew,C.G. (1999) High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am. J. Hum. Genet., 65, 1330-1341.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1330-1341
    • Morgan, N.V.1    Tipping, A.J.2    Joenje, H.3    Mathew, C.G.4
  • 119
    • 0034081412 scopus 로고    scopus 로고
    • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    • Messiaen,L.M., Callens,T., Mortier,G., Beysen,D., Vandenbroucke,I., Van Roy,N., Speleman,F. and Paepe,A.D. (2000) Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum. Mutat., 15, 541-555.
    • (2000) Hum. Mutat. , vol.15 , pp. 541-555
    • Messiaen, L.M.1    Callens, T.2    Mortier, G.3    Beysen, D.4    Vandenbroucke, I.5    Van Roy, N.6    Speleman, F.7    Paepe, A.D.8
  • 120
    • 19444368979 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in mammals
    • Maquat,L.E. (2005) Nonsense-mediated mRNA decay in mammals. J. Cell Sci., 118, 1773-1776.
    • (2005) J. Cell Sci. , vol.118 , pp. 1773-1776
    • Maquat, L.E.1
  • 121
    • 2542603045 scopus 로고    scopus 로고
    • Evidence for a subpopulation of conserved alternative splicing events under selection pressure for protein reading frame preservation
    • Resch,A., Xing,Y., Alekseyenko,A., Modrek,B. and Lee,C. (2004) Evidence for a subpopulation of conserved alternative splicing events under selection pressure for protein reading frame preservation. Nucleic Acids Res., 32, 1261-1269.
    • (2004) Nucleic Acids Res. , vol.32 , pp. 1261-1269
    • Resch, A.1    Xing, Y.2    Alekseyenko, A.3    Modrek, B.4    Lee, C.5
  • 123
    • 0029791403 scopus 로고    scopus 로고
    • Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information
    • Hebsgaard,S.M., Korning,P.G., Tolstrup,N., Engelbrecht,J., Rouze,P. and Brunak,S. (1996) Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res., 24, 3439-3452.
    • (1996) Nucleic Acids Res. , vol.24 , pp. 3439-3452
    • Hebsgaard, S.M.1    Korning, P.G.2    Tolstrup, N.3    Engelbrecht, J.4    Rouze, P.5    Brunak, S.6
  • 124
    • 32544456772 scopus 로고    scopus 로고
    • Characterization and prediction of alternative splice sites
    • Nucleic Acids Research, 2006, Vol. 34, No. 16 4641
    • Wang,M. and Marin,A. (2006) Characterization and prediction of alternative splice sites. Gene, 366, 219-227. Nucleic Acids Research, 2006, Vol. 34, No. 16 4641
    • (2006) Gene , vol.366 , pp. 219-227
    • Wang, M.1    Marin, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.