메뉴 건너뛰기




Volumn 45, Issue 10, 2013, Pages 1232-1237

Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms

(41)  Kon, Ayana a   Shih, Lee Yung b   Minamino, Masashi c   Sanada, Masashi a,d   Shiraishi, Yuichi c   Nagata, Yasunobu a   Yoshida, Kenichi a   Okuno, Yusuke a   Bando, Masashige c   Nakato, Ryuichiro c   Ishikawa, Shumpei c,e   Sato Otsubo, Aiko a   Nagae, Genta f   Nishimoto, Aiko c   Haferlach, Claudia g   Nowak, Daniel h   Sato, Yusuke a   Alpermann, Tamara g   Nagasaki, Masao i   Shimamura, Teppei c   more..


Author keywords

[No Author keywords available]

Indexed keywords

COHESIN; RAD21 PROTEIN; SMC1A PROTEIN; SMC3 PROTEIN; STAG2 PROTEIN; UNCLASSIFIED DRUG;

EID: 84885021313     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2731     Document Type: Article
Times cited : (306)

References (50)
  • 1
    • 79952164235 scopus 로고    scopus 로고
    • Unraveling the molecular pathophysiology of myelodysplastic syndromes
    • Bejar, R., Levine, R. & Ebert, B.L. Unraveling the molecular pathophysiology of myelodysplastic syndromes. J. Clin. Oncol. 29, 504-515 (2011).
    • (2011) J. Clin. Oncol. , vol.29 , pp. 504-515
    • Bejar, R.1    Levine, R.2    Ebert, B.L.3
  • 2
    • 79952092487 scopus 로고    scopus 로고
    • Molecular genetics of adult acute myeloid leukemia: Prognostic and therapeutic implications
    • Marcucci, G., Haferlach, T. & Dohner, H. Molecular genetics of adult acute myeloid leukemia: prognostic and therapeutic implications. J. Clin. Oncol. 29, 475-486 (2011).
    • (2011) J. Clin. Oncol. , vol.29 , pp. 475-486
    • Marcucci, G.1    Haferlach, T.2    Dohner, H.3
  • 3
    • 80053900941 scopus 로고    scopus 로고
    • Frequent pathway mutations of splicing machinery in myelodysplasia
    • Yoshida, K., et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478, 64-69 (2011).
    • (2011) Nature , vol.478 , pp. 64-69
    • Yoshida, K.1
  • 4
    • 0037459376 scopus 로고    scopus 로고
    • Chromosomal cohesin forms a ring
    • Gruber, S., Haering, C.H. & Nasmyth, K. Chromosomal cohesin forms a ring. Cell 112, 765-777 (2003).
    • (2003) Cell , vol.112 , pp. 765-777
    • Gruber, S.1    Haering, C.H.2    Nasmyth, K.3
  • 5
    • 73349127026 scopus 로고    scopus 로고
    • Cohesin: Its roles and mechanisms
    • Nasmyth, K. & Haering, C.H. Cohesin: its roles and mechanisms. Annu. Rev. Genet. 43, 525-558 (2009).
    • (2009) Annu. Rev. Genet. , vol.43 , pp. 525-558
    • Nasmyth, K.1    Haering, C.H.2
  • 6
    • 34447549077 scopus 로고    scopus 로고
    • Postreplicative formation of cohesion is required for repair and induced by a single DNA break
    • Ström, L., et al. Postreplicative formation of cohesion is required for repair and induced by a single DNA break. Science 317, 242-245 (2007).
    • (2007) Science , vol.317 , pp. 242-245
    • Ström, L.1
  • 7
    • 69849103550 scopus 로고    scopus 로고
    • The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells
    • Watrin, E. & Peters, J.M. The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells. EMBO J. 28, 2625-2635 (2009).
    • (2009) EMBO J. , vol.28 , pp. 2625-2635
    • Watrin, E.1    Peters, J.M.2
  • 8
    • 63049139061 scopus 로고    scopus 로고
    • Cohesin, gene expression and development: Lessons from Drosophila
    • Dorsett, D. Cohesin, gene expression and development: lessons from Drosophila. Chromosome Res. 17, 185-200 (2009).
    • (2009) Chromosome Res. , vol.17 , pp. 185-200
    • Dorsett, D.1
  • 9
    • 28044453063 scopus 로고    scopus 로고
    • Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila
    • Dorsett, D., et al. Effects of sister chromatid cohesion proteins on cut gene expression during wing development in Drosophila. Development 132, 4743-4753 (2005).
    • (2005) Development , vol.132 , pp. 4743-4753
    • Dorsett, D.1
  • 10
    • 34547762839 scopus 로고    scopus 로고
    • Cohesin-dependent regulation of Runx genes
    • Horsfield, J.A., et al. Cohesin-dependent regulation of Runx genes. Development 134, 2639-2649 (2007).
    • (2007) Development , vol.134 , pp. 2639-2649
    • Horsfield, J.A.1
  • 11
    • 38849121606 scopus 로고    scopus 로고
    • Cohesins functionally associate with CTCF on mammalian chromosome arms
    • Parelho, V., et al. Cohesins functionally associate with CTCF on mammalian chromosome arms. Cell 132, 422-433 (2008).
    • (2008) Cell , vol.132 , pp. 422-433
    • Parelho, V.1
  • 12
    • 39149121436 scopus 로고    scopus 로고
    • Cohesin mediates transcriptional insulation by CCCTC-binding factor
    • Wendt, K.S., et al. Cohesin mediates transcriptional insulation by CCCTC-binding factor. Nature 451, 796-801 (2008).
    • (2008) Nature , vol.451 , pp. 796-801
    • Wendt, K.S.1
  • 13
    • 77951196062 scopus 로고    scopus 로고
    • Cohesinopathies, gene expression, and chromatin organization
    • Bose, T. & Gerton, J.L. Cohesinopathies, gene expression, and chromatin organization. J. Cell Biol. 189, 201-210 (2010).
    • (2010) J. Cell Biol. , vol.189 , pp. 201-210
    • Bose, T.1    Gerton, J.L.2
  • 14
    • 84866183822 scopus 로고    scopus 로고
    • HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle
    • Deardorff, M.A., et al. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature 489, 313-317 (2012).
    • (2012) Nature , vol.489 , pp. 313-317
    • Deardorff, M.A.1
  • 15
    • 84862142852 scopus 로고    scopus 로고
    • RAD21 mutations cause a human cohesinopathy
    • Deardorff, M.A., et al. RAD21 mutations cause a human cohesinopathy. Am. J. Hum. Genet. 90, 1014-1027 (2012).
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 1014-1027
    • Deardorff, M.A.1
  • 16
    • 80051874823 scopus 로고    scopus 로고
    • Mutational inactivation of STAG2 causes aneuploidy in human cancer
    • Solomon, D.A., et al. Mutational inactivation of STAG2 causes aneuploidy in human cancer. Science 333, 1039-1043 (2011).
    • (2011) Science , vol.333 , pp. 1039-1043
    • Solomon, D.A.1
  • 17
    • 77956509746 scopus 로고    scopus 로고
    • An Smc3 acetylation cycle is essential for establishment of sister chromatid cohesion
    • Beckouët, F., et al. An Smc3 acetylation cycle is essential for establishment of sister chromatid cohesion. Mol. Cell 39, 689-699 (2010).
    • (2010) Mol. Cell , vol.39 , pp. 689-699
    • Beckouët, F.1
  • 18
    • 66249144416 scopus 로고    scopus 로고
    • Transcriptional dysregulation in NIPBL and cohesin mutant human cells
    • Liu, J., et al. Transcriptional dysregulation in NIPBL and cohesin mutant human cells. PLoS Biol. 7, e1000119 (2009).
    • (2009) PLoS Biol. , vol.7
    • Liu, J.1
  • 19
    • 77957234402 scopus 로고    scopus 로고
    • Genome-wide DNA methylation analysis in cohesin mutant human cell lines
    • Liu, J., et al. Genome-wide DNA methylation analysis in cohesin mutant human cell lines. Nucleic Acids Res. 38, 5657-5671 (2010).
    • (2010) Nucleic Acids Res. , vol.38 , pp. 5657-5671
    • Liu, J.1
  • 20
    • 67650529804 scopus 로고    scopus 로고
    • Regulation of the Drosophila enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins
    • Schaaf, C.A., et al. Regulation of the Drosophila enhancer of split and invected-engrailed gene complexes by sister chromatid cohesion proteins. PLoS ONE 4, e6202 (2009).
    • (2009) PLoS ONE , vol.4
    • Schaaf, C.A.1
  • 21
    • 84862776906 scopus 로고    scopus 로고
    • Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
    • Ding, L., et al. Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 481, 506-510 (2012).
    • (2012) Nature , vol.481 , pp. 506-510
    • Ding, L.1
  • 22
    • 84863337617 scopus 로고    scopus 로고
    • Clonal architecture of secondary acute myeloid leukemia
    • Walter, M.J., et al. Clonal architecture of secondary acute myeloid leukemia. N. Engl. J. Med. 366, 1090-1098 (2012).
    • (2012) N. Engl. J. Med. , vol.366 , pp. 1090-1098
    • Walter, M.J.1
  • 23
    • 84864255882 scopus 로고    scopus 로고
    • The origin and evolution of mutations in acute myeloid leukemia
    • Welch, J.S., et al. The origin and evolution of mutations in acute myeloid leukemia. Cell 150, 264-278 (2012).
    • (2012) Cell , vol.150 , pp. 264-278
    • Welch, J.S.1
  • 24
    • 84878372012 scopus 로고    scopus 로고
    • The Cancer genome atlas research network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
    • The Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N. Engl. J. Med. 368, 2059-2074 (2013).
    • (2013) N. Engl. J. Med. , vol.368 , pp. 2059-2074
  • 25
    • 84878900540 scopus 로고    scopus 로고
    • Clonal diversity of recurrently mutated genes in myelodysplastic syndromes
    • Walter, M.J., et al. Clonal diversity of recurrently mutated genes in myelodysplastic syndromes. Leukemia 27, 12785-1282 (2013).
    • (2013) Leukemia , vol.27 , pp. 12785-21282
    • Walter, M.J.1
  • 26
    • 40849149557 scopus 로고    scopus 로고
    • Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers
    • Barber, T.D., et al. Chromatid cohesion defects may underlie chromosome instability in human colorectal cancers. Proc. Natl. Acad. Sci. USA 105, 3443-3448 (2008).
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , pp. 3443-3448
    • Barber, T.D.1
  • 27
    • 77953132992 scopus 로고    scopus 로고
    • Systematic reduction of cohesin differentially affects chromosome segregation, condensation, and DNA repair
    • Heidinger-Pauli, J.M., Mert, O., Davenport, C., Guacci, V. & Koshland, D. Systematic reduction of cohesin differentially affects chromosome segregation, condensation, and DNA repair. Curr. Biol. 20, 957-963 (2010).
    • (2010) Curr. Biol. , vol.20 , pp. 957-963
    • Heidinger-Pauli, J.M.1    Mert, O.2    Davenport, C.3    Guacci, V.4    Koshland, D.5
  • 28
    • 67650997080 scopus 로고    scopus 로고
    • Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus
    • Hadjur, S., et al. Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus. Nature 460, 410-413 (2009).
    • (2009) Nature , vol.460 , pp. 410-413
    • Hadjur, S.1
  • 29
    • 79955592811 scopus 로고    scopus 로고
    • Harnessing synthetic lethal interactions in anticancer drug discovery
    • Chan, D.A. & Giaccia, A.J. Harnessing synthetic lethal interactions in anticancer drug discovery. Nat. Rev. Drug Discov. 10, 351-364 (2011).
    • (2011) Nat. Rev. Drug Discov. , vol.10 , pp. 351-364
    • Chan, D.A.1    Giaccia, A.J.2
  • 30
    • 84880967722 scopus 로고    scopus 로고
    • Integrated molecular analysis of clear-cell renal cell carcinoma
    • doi:10.1038/ng.2699 (24 June 2013)
    • Sato, Y., et al. Integrated molecular analysis of clear-cell renal cell carcinoma. Nat. Genet. doi:10.1038/ng.2699 (24 June 2013).
    • Nat. Genet.
    • Sato, Y.1
  • 31
    • 0036226603 scopus 로고    scopus 로고
    • BLAT-The BLAST-like alignment tool
    • Kent, W.J. BLAT-The BLAST-like alignment tool. Genome Res. 12, 656-664 (2002).
    • (2002) Genome Res. , vol.12 , pp. 656-664
    • Kent, W.J.1
  • 32
    • 68549104404 scopus 로고    scopus 로고
    • The Sequence Alignment/Map format and SAMtools
    • Li, H., et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1
  • 33
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar, P., Henikoff, S. & Ng, P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073-1081 (2009).
    • (2009) Nat. Protoc. , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 34
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei, I.A., et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
    • (2010) Nat. Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1
  • 35
    • 77955151784 scopus 로고    scopus 로고
    • MutationTaster evaluates disease-causing potential of sequence alterations
    • Schwarz, J.M., Rodelsperger, C., Schuelke, M. & Seelow, D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat. Methods 7, 575-576 (2010).
    • (2010) Nat. Methods , vol.7 , pp. 575-576
    • Schwarz, J.M.1    Rodelsperger, C.2    Schuelke, M.3    Seelow, D.4
  • 36
    • 0035153070 scopus 로고    scopus 로고
    • Pyrosequencing sheds light on DNA sequencing
    • Ronaghi, M. Pyrosequencing sheds light on DNA sequencing. Genome Res. 11, 3-11 (2001).
    • (2001) Genome Res. , vol.11 , pp. 3-11
    • Ronaghi, M.1
  • 37
    • 84870882648 scopus 로고    scopus 로고
    • Emerging kinetics of BCR-ABL1 mutations and their effect on disease outcomes in chronic myeloid leukemia patients with imatinib failure
    • Shih, L.Y., et al. Emerging kinetics of BCR-ABL1 mutations and their effect on disease outcomes in chronic myeloid leukemia patients with imatinib failure. Leuk. Res. 37, 43-49 (2013).
    • (2013) Leuk. Res. , vol.37 , pp. 43-49
    • Shih, L.Y.1
  • 38
    • 54549127378 scopus 로고    scopus 로고
    • Studying copy number variations using a nanofluidic platform
    • Qin, J., Jones, R.C. & Ramakrishnan, R. Studying copy number variations using a nanofluidic platform. Nucleic Acids Res. 36, e116 (2008).
    • (2008) Nucleic Acids Res. , vol.36
    • Qin, J.1    Jones, R.C.2    Ramakrishnan, R.3
  • 39
    • 51449098381 scopus 로고    scopus 로고
    • Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device
    • Dube, S., Qin, J. & Ramakrishnan, R. Mathematical analysis of copy number variation in a DNA sample using digital PCR on a nanofluidic device. PLoS ONE 3, e2876 (2008).
    • (2008) PLoS ONE , vol.3
    • Dube, S.1    Qin, J.2    Ramakrishnan, R.3
  • 40
    • 85027927831 scopus 로고    scopus 로고
    • High-resolution characterization of a hepatocellular carcinoma genome
    • Totoki, Y., et al. High-resolution characterization of a hepatocellular carcinoma genome. Nat. Genet. 43, 464-469 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 464-469
    • Totoki, Y.1
  • 41
    • 22244453416 scopus 로고    scopus 로고
    • A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
    • Nannya, Y., et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res. 65, 6071-6079 (2005).
    • (2005) Cancer Res. , vol.65 , pp. 6071-6079
    • Nannya, Y.1
  • 42
    • 34347229790 scopus 로고    scopus 로고
    • Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide- polymorphism genotyping microarrays
    • Yamamoto, G., et al. Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide-polymorphism genotyping microarrays. Am. J. Hum. Genet. 81, 114-126 (2007).
    • (2007) Am. J. Hum. Genet. , vol.81 , pp. 114-126
    • Yamamoto, G.1
  • 43
    • 33645822948 scopus 로고    scopus 로고
    • Genomewide screening of DNA copy number changes in chronic myelogenous leukemia with the use of high-resolution array-based comparative genomic hybridization
    • Hosoya, N., et al. Genomewide screening of DNA copy number changes in chronic myelogenous leukemia with the use of high-resolution array-based comparative genomic hybridization. Genes Chromosom. Cancer 45, 482-494 (2006).
    • (2006) Genes Chromosom. Cancer , vol.45 , pp. 482-494
    • Hosoya, N.1
  • 44
    • 68949124841 scopus 로고    scopus 로고
    • Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms
    • Sanada, M., et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature 460, 904-908 (2009).
    • (2009) Nature , vol.460 , pp. 904-908
    • Sanada, M.1
  • 45
    • 79959797177 scopus 로고    scopus 로고
    • Tissue-specific demethylation in CpG-poor promoters during cellular differentiation
    • Nagae, G., et al. Tissue-specific demethylation in CpG-poor promoters during cellular differentiation. Hum. Mol. Genet. 20, 2710-2721 (2011).
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 2710-2721
    • Nagae, G.1
  • 46
    • 30344453662 scopus 로고    scopus 로고
    • Potent vaccine therapy with dendritic cells genetically modified by the gene-silencing resistant retroviral vector GCDNsap
    • Nabekura, T., Otsu, M., Nagasawa, T., Nakauchi, H. & Onodera, M. Potent vaccine therapy with dendritic cells genetically modified by the gene-silencing resistant retroviral vector GCDNsap. Mol. Ther. 13, 301-309 (2006).
    • (2006) Mol. Ther. , vol.13 , pp. 301-309
    • Nabekura, T.1    Otsu, M.2    Nagasawa, T.3    Nakauchi, H.4    Onodera, M.5
  • 47
    • 33750446660 scopus 로고    scopus 로고
    • Isolation, characterization, and genetic complementation of a cellular mutant resistant to retroviral infection
    • Agarwal, S., et al. Isolation, characterization, and genetic complementation of a cellular mutant resistant to retroviral infection. Proc. Natl. Acad. Sci. USA 103, 15933-15938 (2006).
    • (2006) Proc. Natl. Acad. Sci. USA , vol.103 , pp. 15933-15938
    • Agarwal, S.1
  • 48
    • 0035793042 scopus 로고    scopus 로고
    • Model-based analysis of oligonucleotide arrays: Expression index computation and outlier detection
    • Li, C. & Wong, W.H. Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection. Proc. Natl. Acad. Sci. USA 98, 31-36 (2001).
    • (2001) Proc. Natl. Acad. Sci. USA , vol.98 , pp. 31-36
    • Li, C.1    Wong, W.H.2
  • 50
    • 84859436530 scopus 로고    scopus 로고
    • NCBI Reference Sequences (RefSeq): Current status, new features and genome annotation policy
    • Pruitt, K.D., Tatusova, T., Brown, G.R. & Maglott, D.R. NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy. Nucleic Acids Res. 40, D130 D135 (2012).
    • (2012) Nucleic Acids Res. , vol.40
    • Pruitt, K.D.1    Tatusova, T.2    Brown, G.R.3    Maglott, D.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.