메뉴 건너뛰기




Volumn 112, Issue 34, 2015, Pages E4726-E4734

Disease-associated mutation in SRSF2 misregulates splicing by altering RNA-binding affinities

Author keywords

Leukemia; Myelodysplastic syndromes; Pre mRNA splicing; Serine arginine rich proteins; Spliceosome

Indexed keywords

RNA BINDING PROTEIN; SERINE ARGININE RICH SPLICING FACTOR 2 PROTEIN; UNCLASSIFIED DRUG; CRISPR ASSOCIATED PROTEIN; NUCLEAR PROTEIN; RIBONUCLEOPROTEIN; RNA; SRSF2 PROTEIN, HUMAN;

EID: 84940511517     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1514105112     Document Type: Article
Times cited : (181)

References (49)
  • 1
    • 0033609317 scopus 로고    scopus 로고
    • Myelodysplasia
    • Heaney ML, Golde DW (1999) Myelodysplasia. N Engl J Med 340(21):1649-1660.
    • (1999) N Engl J Med , vol.340 , Issue.21 , pp. 1649-1660
    • Heaney, M.L.1    Golde, D.W.2
  • 2
    • 33846515640 scopus 로고    scopus 로고
    • Myelodysplastic syndromes: The complexity of stem-cell diseases
    • Corey SJ, et al. (2007) Myelodysplastic syndromes: The complexity of stem-cell diseases. Nat Rev Cancer 7(2):118-129.
    • (2007) Nat Rev Cancer , vol.7 , Issue.2 , pp. 118-129
    • Corey, S.J.1
  • 3
    • 80053900941 scopus 로고    scopus 로고
    • Frequent pathway mutations of splicing machinery in myelodysplasia
    • Yoshida K, et al. (2011) Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478(7367):64-69.
    • (2011) Nature , vol.478 , Issue.7367 , pp. 64-69
    • Yoshida, K.1
  • 4
    • 84893772765 scopus 로고    scopus 로고
    • Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
    • Haferlach T, et al. (2014) Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28(2):241-247.
    • (2014) Leukemia , vol.28 , Issue.2 , pp. 241-247
    • Haferlach, T.1
  • 5
    • 84859856420 scopus 로고    scopus 로고
    • Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes
    • Thol F, et al. (2012) Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood 119(15):3578-3584.
    • (2012) Blood , vol.119 , Issue.15 , pp. 3578-3584
    • Thol, F.1
  • 6
    • 84867801670 scopus 로고    scopus 로고
    • The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution
    • Wu SJ, et al. (2012) The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution. Blood 120(15):3106-3111.
    • (2012) Blood , vol.120 , Issue.15 , pp. 3106-3111
    • Wu, S.J.1
  • 7
    • 84929162813 scopus 로고    scopus 로고
    • SRSF2 mutations contribute to myelodysplasia by mutant-specific effects on exon recognition
    • Kim E, et al. (2015) SRSF2 mutations contribute to myelodysplasia by mutant-specific effects on exon recognition. Cancer Cell 27(5):617-630.
    • (2015) Cancer Cell , vol.27 , Issue.5 , pp. 617-630
    • Kim, E.1
  • 8
    • 78049416081 scopus 로고    scopus 로고
    • Alternative pre-mRNA splicing regulation in cancer: Pathways and programs unhinged
    • David CJ, Manley JL (2010) Alternative pre-mRNA splicing regulation in cancer: Pathways and programs unhinged. Genes Dev 24(21):2343-2364.
    • (2010) Genes Dev , vol.24 , Issue.21 , pp. 2343-2364
    • David, C.J.1    Manley, J.L.2
  • 9
    • 84887460995 scopus 로고    scopus 로고
    • Misregulation of pre-mRNA alternative splicing in cancer
    • Zhang J, Manley JL (2013) Misregulation of pre-mRNA alternative splicing in cancer. Cancer Discov 3(11):1228-1237.
    • (2013) Cancer Discov , vol.3 , Issue.11 , pp. 1228-1237
    • Zhang, J.1    Manley, J.L.2
  • 10
    • 58249093940 scopus 로고    scopus 로고
    • The SR protein family of splicing factors: Master regulators of gene expression
    • Long JC, Caceres JF (2009) The SR protein family of splicing factors: Master regulators of gene expression. Biochem J 417(1):15-27.
    • (2009) Biochem J , vol.417 , Issue.1 , pp. 15-27
    • Long, J.C.1    Caceres, J.F.2
  • 11
    • 0029064220 scopus 로고
    • The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities
    • Tacke R, Manley JL (1995) The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities. EMBO J 14(14):3540-3551.
    • (1995) EMBO J , vol.14 , Issue.14 , pp. 3540-3551
    • Tacke, R.1    Manley, J.L.2
  • 12
    • 0027137934 scopus 로고
    • Specific interactions between proteins implicated in splice site selection and regulated alternative splicing
    • Wu JY, Maniatis T (1993) Specific interactions between proteins implicated in splice site selection and regulated alternative splicing. Cell 75(6):1061-1070.
    • (1993) Cell , vol.75 , Issue.6 , pp. 1061-1070
    • Wu, J.Y.1    Maniatis, T.2
  • 13
    • 0028289188 scopus 로고
    • Protein-protein interactions and 5?-splice-site recognition in mammalian mRNA precursors
    • Kohtz JD, et al. (1994) Protein-protein interactions and 5?-splice-site recognition in mammalian mRNA precursors. Nature 368(6467):119-124.
    • (1994) Nature , vol.368 , Issue.6467 , pp. 119-124
    • Kohtz, J.D.1
  • 14
    • 84888219405 scopus 로고    scopus 로고
    • Clinical and biological implications of driver mutations in myelodysplastic syndromes
    • Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium quiz 3699
    • Papaemmanuil E, et al.; Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium (2013) Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood 122(22):3616-3627, quiz 3699.
    • (2013) Blood , vol.122 , Issue.22 , pp. 3616-3627
    • Papaemmanuil, E.1
  • 15
    • 84855343723 scopus 로고    scopus 로고
    • A syn-anti conformational difference allows SRSF2 to recognize guanines and cytosines equally well
    • Daubner GM, Cléry A, Jayne S, Stevenin J, Allain FH (2012) A syn-anti conformational difference allows SRSF2 to recognize guanines and cytosines equally well. EMBO J 31(1):162-174.
    • (2012) EMBO J , vol.31 , Issue.1 , pp. 162-174
    • Daubner, G.M.1    Cléry, A.2    Jayne, S.3    Stevenin, J.4    Allain, F.H.5
  • 16
    • 84919936245 scopus 로고    scopus 로고
    • RMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data
    • Shen S, et al. (2014) rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data. Proc Natl Acad Sci USA 111(51):E5593-E5601.
    • (2014) Proc Natl Acad Sci USA , vol.111 , Issue.51 , pp. 5593-5601
    • Shen, S.1
  • 17
    • 72949113230 scopus 로고    scopus 로고
    • Emerging roles of ATF2 and the dynamic AP1 network in cancer
    • Lopez-Bergami P, Lau E, Ronai Z (2010) Emerging roles of ATF2 and the dynamic AP1 network in cancer. Nat Rev Cancer 10(1):65-76.
    • (2010) Nat Rev Cancer , vol.10 , Issue.1 , pp. 65-76
    • Lopez-Bergami, P.1    Lau, E.2    Ronai, Z.3
  • 18
    • 0035183256 scopus 로고    scopus 로고
    • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
    • Mandel H, et al. (2001) The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29(3):337-341.
    • (2001) Nat Genet , vol.29 , Issue.3 , pp. 337-341
    • Mandel, H.1
  • 20
    • 65949102982 scopus 로고    scopus 로고
    • CDK5RAP2 is required for spindle checkpoint function
    • Zhang X, et al. (2009) CDK5RAP2 is required for spindle checkpoint function. Cell Cycle 8(8):1206-1216.
    • (2009) Cell Cycle , vol.8 , Issue.8 , pp. 1206-1216
    • Zhang, X.1
  • 21
    • 0033575885 scopus 로고    scopus 로고
    • EPS8 and E3B1 transduce signals from Ras to Rac
    • Scita G, et al. (1999) EPS8 and E3B1 transduce signals from Ras to Rac. Nature 401(6750):290-293.
    • (1999) Nature , vol.401 , Issue.6750 , pp. 290-293
    • Scita, G.1
  • 22
    • 0029960469 scopus 로고    scopus 로고
    • Cdc45p assembles into a complex with Cdc46p/Mcm5p, is required for minichromosome maintenance, and is essential for chromosomal DNA replication
    • Hopwood B, Dalton S (1996) Cdc45p assembles into a complex with Cdc46p/Mcm5p, is required for minichromosome maintenance, and is essential for chromosomal DNA replication. Proc Natl Acad Sci USA 93(22):12309-12314.
    • (1996) Proc Natl Acad Sci USA , vol.93 , Issue.22 , pp. 12309-12314
    • Hopwood, B.1    Dalton, S.2
  • 23
    • 84887197887 scopus 로고    scopus 로고
    • Maternal embryonic leucine zipper kinase (MELK): A novel regulator in cell cycle control, embryonic development, and cancer
    • Jiang P, Zhang D (2013) Maternal embryonic leucine zipper kinase (MELK): A novel regulator in cell cycle control, embryonic development, and cancer. Int J Mol Sci 14(11):21551-21560.
    • (2013) Int J Mol Sci , vol.14 , Issue.11 , pp. 21551-21560
    • Jiang, P.1    Zhang, D.2
  • 24
    • 84870913730 scopus 로고    scopus 로고
    • Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct X-linked dominant form of NBIA
    • Haack TB, et al. (2012) Exome sequencing reveals De novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 91(6): 1144-1149.
    • (2012) Am J Hum Genet , vol.91 , Issue.6 , pp. 1144-1149
    • Haack, T.B.1
  • 25
    • 84898730826 scopus 로고    scopus 로고
    • A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age
    • Familial Breast Cancer Study
    • Ahsan H, et al.; Familial Breast Cancer Study (2014) A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. Cancer Epidemiol Biomarkers Prev 23(4):658-669.
    • (2014) Cancer Epidemiol Biomarkers Prev , vol.23 , Issue.4 , pp. 658-669
    • Ahsan, H.1
  • 26
    • 1842844280 scopus 로고    scopus 로고
    • Identification of the human mitochondrial S-adenosylmethionine transporter: Bacterial expression, reconstitution, functional characterization and tissue distribution
    • Agrimi G, et al. (2004) Identification of the human mitochondrial S-adenosylmethionine transporter: Bacterial expression, reconstitution, functional characterization and tissue distribution. Biochem J 379(Pt 1):183-190.
    • (2004) Biochem J , vol.379 , pp. 183-190
    • Agrimi, G.1
  • 27
    • 0033017499 scopus 로고    scopus 로고
    • The splicing factors 9G8 and SRp20 transactivate splicing through different and specific enhancers
    • Cavaloc Y, Bourgeois CF, Kister L, Stévenin J (1999) The splicing factors 9G8 and SRp20 transactivate splicing through different and specific enhancers. RNA 5(3):468-483.
    • (1999) RNA , vol.5 , Issue.3 , pp. 468-483
    • Cavaloc, Y.1    Bourgeois, C.F.2    Kister, L.3    Stévenin, J.4
  • 28
    • 0033019048 scopus 로고    scopus 로고
    • Selection and characterization of pre-mRNA splicing enhancers: Identification of novel SR protein-specific enhancer sequences
    • Schaal TD, Maniatis T (1999) Selection and characterization of pre-mRNA splicing enhancers: Identification of novel SR protein-specific enhancer sequences. Mol Cell Biol 19(3):1705-1719.
    • (1999) Mol Cell Biol , vol.19 , Issue.3 , pp. 1705-1719
    • Schaal, T.D.1    Maniatis, T.2
  • 29
    • 77950342256 scopus 로고    scopus 로고
    • Antagonistic factors control the unproductive splicing of SC35 terminal intron
    • Dreumont N, et al. (2010) Antagonistic factors control the unproductive splicing of SC35 terminal intron. Nucleic Acids Res 38(4):1353-1366.
    • (2010) Nucleic Acids Res , vol.38 , Issue.4 , pp. 1353-1366
    • Dreumont, N.1
  • 30
    • 4544346598 scopus 로고    scopus 로고
    • An exonic splicing enhancer offsets the atypical GU-rich 3 splice site of human apolipoprotein A-II exon 3
    • Arrisi-Mercado P, Romano M, Muro AF, Baralle FE (2004) An exonic splicing enhancer offsets the atypical GU-rich 3? splice site of human apolipoprotein A-II exon 3. J Biol Chem 279(38):39331-39339.
    • (2004) J Biol Chem , vol.279 , Issue.38 , pp. 39331-39339
    • Arrisi-Mercado, P.1    Romano, M.2    Muro, A.F.3    Baralle, F.E.4
  • 31
    • 1642372088 scopus 로고    scopus 로고
    • SC35 and heterogeneous nuclear ribonucleoprotein A/B proteins bind to a juxtaposed exonic splicing enhancer/exonic splicing silencer element to regulate HIV-1 tat exon 2 splicing
    • Zahler AM, Damgaard CK, Kjems J, Caputi M (2004) SC35 and heterogeneous nuclear ribonucleoprotein A/B proteins bind to a juxtaposed exonic splicing enhancer/exonic splicing silencer element to regulate HIV-1 tat exon 2 splicing. J Biol Chem 279(11): 10077-10084.
    • (2004) J Biol Chem , vol.279 , Issue.11 , pp. 10077-10084
    • Zahler, A.M.1    Damgaard, C.K.2    Kjems, J.3    Caputi, M.4
  • 32
    • 33845993932 scopus 로고    scopus 로고
    • Biochemical and NMR study on the competition between proteins SC35, SRp40, and heterogeneous nuclear ribonucleoprotein A1 at the HIV-1 Tat exon 2 splicing site
    • Hallay H, et al. (2006) Biochemical and NMR study on the competition between proteins SC35, SRp40, and heterogeneous nuclear ribonucleoprotein A1 at the HIV-1 Tat exon 2 splicing site. J Biol Chem 281(48):37159-37174.
    • (2006) J Biol Chem , vol.281 , Issue.48 , pp. 37159-37174
    • Hallay, H.1
  • 33
    • 0037083819 scopus 로고    scopus 로고
    • SR proteins and hnRNP H regulate the splicing of the HIV-1 tev-specific exon 6D
    • Caputi M, Zahler AM (2002) SR proteins and hnRNP H regulate the splicing of the HIV-1 tev-specific exon 6D. EMBO J 21(4):845-855.
    • (2002) EMBO J , vol.21 , Issue.4 , pp. 845-855
    • Caputi, M.1    Zahler, A.M.2
  • 34
    • 80051737020 scopus 로고    scopus 로고
    • Regulation of the alternative splicing of tau exon 10 by SC35 and Dyrk1A
    • Qian W, et al. (2011) Regulation of the alternative splicing of tau exon 10 by SC35 and Dyrk1A. Nucleic Acids Res 39(14):6161-6171.
    • (2011) Nucleic Acids Res , vol.39 , Issue.14 , pp. 6161-6171
    • Qian, W.1
  • 35
    • 0032947182 scopus 로고    scopus 로고
    • Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA
    • Schaal TD, Maniatis T (1999) Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA. Mol Cell Biol 19(1):261-273.
    • (1999) Mol Cell Biol , vol.19 , Issue.1 , pp. 261-273
    • Schaal, T.D.1    Maniatis, T.2
  • 36
    • 22544464444 scopus 로고    scopus 로고
    • ASF/SF2 and SC35 regulate the glutamate receptor subunit 2 alternative flip/flop splicing
    • Crovato TE, Egebjerg J (2005) ASF/SF2 and SC35 regulate the glutamate receptor subunit 2 alternative flip/flop splicing. FEBS Lett 579(19):4138-4144.
    • (2005) FEBS Lett , vol.579 , Issue.19 , pp. 4138-4144
    • Crovato, T.E.1    Egebjerg, J.2
  • 37
    • 67849122320 scopus 로고    scopus 로고
    • MEME SUITE: Tools for motif discovery and searching
    • (Web Server issue)
    • Bailey TL, et al. (2009) MEME SUITE: Tools for motif discovery and searching. Nucleic Acids Res 37(Web Server issue):W202-208.
    • (2009) Nucleic Acids Res , vol.37 , pp. 202-208
    • Bailey, T.L.1
  • 38
    • 0031878108 scopus 로고    scopus 로고
    • A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch site
    • Gozani O, Potashkin J, Reed R (1998) A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch site. Mol Cell Biol 18(8):4752-4760.
    • (1998) Mol Cell Biol , vol.18 , Issue.8 , pp. 4752-4760
    • Gozani, O.1    Potashkin, J.2    Reed, R.3
  • 39
    • 2042437650 scopus 로고    scopus 로고
    • International human genome sequencing consortium (2001) initial sequencing and analysis of the human genome
    • and corrections 2001) 411:720 and 2001) 412 565
    • Lander ES, et al.; International Human Genome Sequencing Consortium (2001) Initial sequencing and analysis of the human genome. Nature 409(6822):860-921, and corrections (2001) 411:720 and (2001) 412:565.
    • Nature , vol.409 , Issue.6822 , pp. 860-921
    • Lander, E.S.1
  • 40
    • 84860385776 scopus 로고    scopus 로고
    • MATS: A Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data
    • Shen S, et al. (2012) MATS: A Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data. Nucleic Acids Res 40(8):e61.
    • (2012) Nucleic Acids Res , vol.40 , Issue.8 , pp. e61
    • Shen, S.1
  • 41
    • 71949096690 scopus 로고    scopus 로고
    • Alternative splicing modulates autoinhibition and SH3 accessibility in the Src kinase Fyn
    • Brignatz C, et al. (2009) Alternative splicing modulates autoinhibition and SH3 accessibility in the Src kinase Fyn. Mol Cell Biol 29(24):6438-6448.
    • (2009) Mol Cell Biol , vol.29 , Issue.24 , pp. 6438-6448
    • Brignatz, C.1
  • 42
    • 0029821113 scopus 로고    scopus 로고
    • Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases
    • Le Beau MM, et al. (1996) Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases. Blood 88(6):1930-1935.
    • (1996) Blood , vol.88 , Issue.6 , pp. 1930-1935
    • Le Beau, M.M.1
  • 43
    • 1842295700 scopus 로고    scopus 로고
    • Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias
    • Fischer K, et al. (1997) Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. Blood 89(6):2036-2041.
    • (1997) Blood , vol.89 , Issue.6 , pp. 2036-2041
    • Fischer, K.1
  • 44
    • 0037742196 scopus 로고    scopus 로고
    • A specific splicing variant of SVH, a novel human armadillo repeat protein, is up-regulated in hepatocellular carcinomas
    • Huang R, et al. (2003) A specific splicing variant of SVH, a novel human armadillo repeat protein, is up-regulated in hepatocellular carcinomas. Cancer Res 63(13):3775-3782.
    • (2003) Cancer Res , vol.63 , Issue.13 , pp. 3775-3782
    • Huang, R.1
  • 45
    • 34948886775 scopus 로고    scopus 로고
    • SVH-B interacts directly with p53 and suppresses the transcriptional activity of p53
    • Zhou X, Yang G, Huang R, Chen X, Hu G (2007) SVH-B interacts directly with p53 and suppresses the transcriptional activity of p53. FEBS Lett 581(25):4943-4948.
    • (2007) FEBS Lett , vol.581 , Issue.25 , pp. 4943-4948
    • Zhou, X.1    Yang, G.2    Huang, R.3    Chen, X.4    Hu, G.5
  • 46
    • 84876996918 scopus 로고    scopus 로고
    • TopHat2: Accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions
    • Kim D, et al. (2013) TopHat2: Accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol 14(4):R36.
    • (2013) Genome Biol , vol.14 , Issue.4 , pp. 36
    • Kim, D.1
  • 47
    • 84928987900 scopus 로고    scopus 로고
    • HTSeq-a Python framework to work with highthroughput sequencing data
    • Anders S, Pyl PT, Huber W (2015) HTSeq-a Python framework to work with highthroughput sequencing data. Bioinformatics 31(2):166-169.
    • (2015) Bioinformatics , vol.31 , Issue.2 , pp. 166-169
    • Anders, S.1    Pyl, P.T.2    Huber, W.3
  • 48
    • 84924629414 scopus 로고    scopus 로고
    • Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
    • Love MI, Huber W, Anders S (2014) Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol 15(12):550.
    • (2014) Genome Biol , vol.15 , Issue.12 , pp. 550
    • Love, M.I.1    Huber, W.2    Anders, S.3
  • 49
    • 84862777397 scopus 로고    scopus 로고
    • Concentration-dependent control of pyruvate kinase M mutually exclusive splicing by hnRNP proteins
    • Chen M, David CJ, Manley JL (2012) Concentration-dependent control of pyruvate kinase M mutually exclusive splicing by hnRNP proteins. Nat Struct Mol Biol 19(3): 346-354.
    • (2012) Nat Struct Mol Biol , vol.19 , Issue.3 , pp. 346-354
    • Chen, M.1    David, C.J.2    Manley, J.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.