메뉴 건너뛰기




Volumn 30, Issue 4, 2009, Pages 625-632

Systematic evaluation of the effect of common SNPs on pre-mRNA splicing

Author keywords

Alternative splicing; Exonic splice enhancers; SNP; SNP dependent splicing

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA;

EID: 63749112979     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20906     Document Type: Article
Times cited : (28)

References (40)
  • 1
    • 26944453614 scopus 로고    scopus 로고
    • Splicing in action: Assessing disease causing sequence changes
    • Baralle D, Baralle M. 2005. Splicing in action: assessing disease causing sequence changes. J Med Genet 42:737-748.
    • (2005) J Med Genet , vol.42 , pp. 737-748
    • Baralle, D.1    Baralle, M.2
  • 2
    • 0036544654 scopus 로고    scopus 로고
    • Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
    • Cartegni L, Krainer AR. 2002. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 30:377-384.
    • (2002) Nat Genet , vol.30 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 4
    • 0037084825 scopus 로고    scopus 로고
    • Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human
    • Clark F, Thanaraj TA. 2002. Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human. Hum Mol Genet 11:451-464.
    • (2002) Hum Mol Genet , vol.11 , pp. 451-464
    • Clark, F.1    Thanaraj, T.A.2
  • 5
    • 0242438530 scopus 로고    scopus 로고
    • NF1 exon 7 skipping and sequence alterations in exonic splice enhancers(ESEs) in a neurofibromatosis 1 patient
    • Colapietro P, Gervasini C, Natacci F, Rossi L, Riva P, Larizza L. 2003. NF1 exon 7 skipping and sequence alterations in exonic splice enhancers(ESEs) in a neurofibromatosis 1 patient. Hum Genet 113:551-554.
    • (2003) Hum Genet , vol.113 , pp. 551-554
    • Colapietro, P.1    Gervasini, C.2    Natacci, F.3    Rossi, L.4    Riva, P.5    Larizza, L.6
  • 7
    • 19344367734 scopus 로고    scopus 로고
    • Single nucleotide polymorphism-based validation of exonic splicing enhancers
    • Fairbrother WG, Holste D, Burge CB, Sharp PA. 2004a. Single nucleotide polymorphism-based validation of exonic splicing enhancers. PLoS Biol 2:E268.
    • (2004) PLoS Biol , vol.2
    • Fairbrother, W.G.1    Holste, D.2    Burge, C.B.3    Sharp, P.A.4
  • 9
    • 17844387429 scopus 로고    scopus 로고
    • OAS1 splice site polymorphism controlling antiviral enzyme activity influences susceptibility to type 1 diabetes
    • Field LL, Bonnevie-Nielsen V, Pociot F, Lu S, Nielsen TB, Beck-Nielsen H. 2005. OAS1 splice site polymorphism controlling antiviral enzyme activity influences susceptibility to type 1 diabetes. Diabetes 54:1588-1591.
    • (2005) Diabetes , vol.54 , pp. 1588-1591
    • Field, L.L.1    Bonnevie-Nielsen, V.2    Pociot, F.3    Lu, S.4    Nielsen, T.B.5    Beck-Nielsen, H.6
  • 11
    • 37349040105 scopus 로고    scopus 로고
    • The haplo-spliceo-transcriptome: Common variations in alternative splicing in the human population
    • Graveley BR. 2008. The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population. Trends Genet 24:5-7.
    • (2008) Trends Genet , vol.24 , pp. 5-7
    • Graveley, B.R.1
  • 18
    • 24744464160 scopus 로고    scopus 로고
    • Biased exon/intron distribution of cryptic and de novo 3′ splice sites
    • Kralovicova J, Christensen MB, Vorechovsky 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
    • Kralovicova, J.1    Christensen, M.B.2    Vorechovsky, I.3
  • 19
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • Krawczak M, Reiss J, Cooper DN. 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
  • 20
    • 33846934728 scopus 로고    scopus 로고
    • Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing
    • Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN. 2007. Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing. Hum Mutat 28:150-158.
    • (2007) Hum Mutat , vol.28 , pp. 150-158
    • Krawczak, M.1    Thomas, N.S.2    Hundrieser, B.3    Mort, M.4    Wittig, M.5    Hampe, J.6    Cooper, D.N.7
  • 23
    • 38549158538 scopus 로고    scopus 로고
    • F-SNP: Computationally predicted functional SNPs for disease association studies
    • Lee PH, Shatkay H. 2008. F-SNP: computationally predicted functional SNPs for disease association studies. Nucleic Acids Res 36(Database issue):D820-D824.
    • (2008) Nucleic Acids Res 36(Database issue)
    • Lee, P.H.1    Shatkay, H.2
  • 24
    • 0035158730 scopus 로고    scopus 로고
    • A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes
    • Liu HX, Cartegni L, Zhang MQ, Krainer AR. 2001. A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 27:55-58.
    • (2001) Nat Genet , vol.27 , pp. 55-58
    • Liu, H.X.1    Cartegni, L.2    Zhang, M.Q.3    Krainer, A.R.4
  • 26
    • 38649125206 scopus 로고    scopus 로고
    • Global analysis of mRNA splicing
    • Moore JM, Silver PA. 2008. Global analysis of mRNA splicing. RNA 14:1-7.
    • (2008) RNA , vol.14 , pp. 1-7
    • Moore, J.M.1    Silver, P.A.2
  • 27
    • 0028222873 scopus 로고
    • Construction of a novel database containing aberrant splicing mutations of mammalian genes
    • Nakai K, 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
  • 28
    • 17144362174 scopus 로고    scopus 로고
    • Automated splicing mutation analysis by information theory
    • Nalla VK, Rogan PK. 2005. Automated splicing mutation analysis by information theory. Hum Mutat 25:334-342.
    • (2005) Hum Mutat , vol.25 , pp. 334-342
    • Nalla, V.K.1    Rogan, P.K.2
  • 29
    • 0034647916 scopus 로고    scopus 로고
    • Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
    • Pagani F, Buratti E, Stuani C, Romano M, Zuccato E, Niksic M, Giglio L, Faraguna D, Baralle FE. 2000. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 275:21041-21047.
    • (2000) J Biol Chem , vol.275 , pp. 21041-21047
    • Pagani, F.1    Buratti, E.2    Stuani, C.3    Romano, M.4    Zuccato, E.5    Niksic, M.6    Giglio, L.7    Faraguna, D.8    Baralle, F.E.9
  • 30
    • 1942467065 scopus 로고    scopus 로고
    • Genomic variants in exons and introns: Identifying the splicing spoilers
    • Pagani F, Baralle FE. 2004. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 5:389-396.
    • (2004) Nat Rev Genet , vol.5 , pp. 389-396
    • Pagani, F.1    Baralle, F.E.2
  • 32
    • 0025321246 scopus 로고
    • Splice junctions, branch point sites, and exons: Sequence statistics, identification, and applications to genome project
    • Senapathy P, Shapiro MB, Harris NL. 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
  • 33
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro MB, 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
  • 34
    • 33747891736 scopus 로고    scopus 로고
    • An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
    • Smith PJ, Zhang C, Wang J, Chew SL, Zhang MQ, Krainer AR. 2006. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet 15:2490-2508.
    • (2006) Hum Mol Genet , vol.15 , pp. 2490-2508
    • Smith, P.J.1    Zhang, C.2    Wang, J.3    Chew, S.L.4    Zhang, M.Q.5    Krainer, A.R.6
  • 37
    • 1442348429 scopus 로고    scopus 로고
    • Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors
    • Wang J, Gao QS, Wang Y, Lafyatis R, Stamm S, Andreadis A. 2004a. Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors. J Neurochem 88:1078-1090.
    • (2004) J Neurochem , vol.88 , pp. 1078-1090
    • Wang, J.1    Gao, Q.S.2    Wang, Y.3    Lafyatis, R.4    Stamm, S.5    Andreadis, A.6
  • 38
    • 10944256767 scopus 로고    scopus 로고
    • Systematic identification and analysis of exonic splicing silencers
    • Wang Z, Rolish ME, Yeo G, Tung V, Mawson M, Burge CB. 2004b. Systematic identification and analysis of exonic splicing silencers. Cell 119:831-845.
    • (2004) Cell , vol.119 , pp. 831-845
    • Wang, Z.1    Rolish, M.E.2    Yeo, G.3    Tung, V.4    Mawson, M.5    Burge, C.B.6
  • 39
    • 34548758543 scopus 로고    scopus 로고
    • Splicing in disease: Disruption of the splicing code and the decoding machinery
    • Wang GS, Cooper TA. 2007. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet 8:749-761.
    • (2007) Nat Rev Genet , vol.8 , pp. 749-761
    • Wang, G.S.1    Cooper, T.A.2
  • 40
    • 2442441507 scopus 로고    scopus 로고
    • Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
    • Yeo G, Burge CB. 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.