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Volumn 6, Issue , 2015, Pages

NSD1 mutations generate a genome-wide DNA methylation signature

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HISTONE METHYLTRANSFERASE; NSD1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL PEPTIDE;

EID: 84951269576     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms10207     Document Type: Article
Times cited : (150)

References (23)
  • 1
    • 0001445647 scopus 로고
    • Cerebral gigantism in childhood. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder
    • Sotos, J. F., Dodge, P. R., Muirhead, D., Crawford, J. D. & Talbot, N. B. Cerebral gigantism in childhood. A syndrome of excessively rapid growth and acromegalic features and a nonprogressive neurologic disorder. N. Engl. J. Med. 271, 109-116 (1964).
    • (1964) N. Engl. J. Med. , vol.271 , pp. 109-116
    • Sotos, J.F.1    Dodge, P.R.2    Muirhead, D.3    Crawford, J.D.4    Talbot, N.B.5
  • 4
    • 18544384537 scopus 로고    scopus 로고
    • Haploinsufficiency of NSD1 causes Sotos syndrome
    • Kurotaki, N. et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat. Genet. 30, 365-366 (2002).
    • (2002) Nat. Genet. , vol.30 , pp. 365-366
    • Kurotaki, N.1
  • 5
    • 0031779421 scopus 로고    scopus 로고
    • WHSC1, a 90kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma
    • Stec, I. et al. WHSC1, a 90kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum. Mol. Genet. 7, 1071-1082 (1998).
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 1071-1082
    • Stec, I.1
  • 6
    • 78049275346 scopus 로고    scopus 로고
    • Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function
    • Lucio-Eterovic, A. K. et al. Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function. Proc. Natl Acad. Sci. USA 107, 16952-16957 (2010).
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , pp. 16952-16957
    • Lucio-Eterovic, A.K.1
  • 7
    • 67349190247 scopus 로고    scopus 로고
    • Linking DNA methylation and histone modification: Patterns and paradigms
    • Cedar, H. & Bergman, Y. Linking DNA methylation and histone modification: patterns and paradigms. Nat. Rev. Genet. 10, 295-304 (2009).
    • (2009) Nat. Rev. Genet. , vol.10 , pp. 295-304
    • Cedar, H.1    Bergman, Y.2
  • 8
    • 84872814280 scopus 로고    scopus 로고
    • Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C
    • Grafodatskaya, D. et al. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. BMC Med. Genomics 6, 1 (2013).
    • (2013) BMC Med. Genomics , vol.6 , pp. 1
    • Grafodatskaya, D.1
  • 9
    • 84874353239 scopus 로고    scopus 로고
    • Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray
    • Chen, Y. A. et al. Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics 8, 203-209 (2013).
    • (2013) Epigenetics , vol.8 , pp. 203-209
    • Chen, Y.A.1
  • 10
    • 84855825406 scopus 로고    scopus 로고
    • 2 cause Weaver syndrome
    • 2 cause Weaver syndrome. Am. J. Hum. Genet. 90, 110-118 (2012).
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 110-118
    • Gibson, W.T.1
  • 11
    • 84863795741 scopus 로고    scopus 로고
    • 2 cause Weaver syndrome and increased human height
    • 2 cause Weaver syndrome and increased human height. Oncotarget 2, 1127-1133 (2011).
    • (2011) Oncotarget , vol.2 , pp. 1127-1133
    • Tatton-Brown, K.1
  • 12
    • 79952764520 scopus 로고    scopus 로고
    • Performance of mutation pathogenicity prediction methods on missense variants
    • Thusberg, J., Olatubosun, A. & Vihinen, M. Performance of mutation pathogenicity prediction methods on missense variants. Hum. Mutat. 32, 358-368 (2011).
    • (2011) Hum. Mutat. , vol.32 , pp. 358-368
    • Thusberg, J.1    Olatubosun, A.2    Vihinen, M.3
  • 13
    • 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
  • 14
    • 80053189298 scopus 로고    scopus 로고
    • Predicting the functional impact of protein mutations: Application to cancer genomics
    • Reva, B., Antipin, Y. & Sander, C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 39, e118 (2011).
    • (2011) Nucleic Acids Res. , vol.39 , pp. e118
    • Reva, B.1    Antipin, Y.2    Sander, C.3
  • 15
    • 84864430562 scopus 로고    scopus 로고
    • SIFT web server: Predicting effects of amino acid substitutions on proteins
    • Sim, N. L. et al. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 40, W452-W457 (2012).
    • (2012) Nucleic Acids Res. , vol.40 , pp. W452-W457
    • Sim, N.L.1
  • 16
    • 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
  • 17
    • 25144496606 scopus 로고    scopus 로고
    • PMUT: A web-based tool for the annotation of pathological mutations on proteins
    • Ferrer-Costa, C. et al. PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21, 3176-3178 (2005).
    • (2005) Bioinformatics , vol.21 , pp. 3176-3178
    • Ferrer-Costa, C.1
  • 18
    • 0037599617 scopus 로고    scopus 로고
    • NSD1 is essential for early post-implantation development and has a catalytically active SET domain
    • Rayasam, G. V. et al. NSD1 is essential for early post-implantation development and has a catalytically active SET domain. EMBO J. 22, 3153-3163 (2003).
    • (2003) EMBO J. , vol.22 , pp. 3153-3163
    • Rayasam, G.V.1
  • 19
    • 61449172037 scopus 로고    scopus 로고
    • Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
    • Huang da, W., Sherman, B. T. & Lempicki, R. A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc. 4, 44-57 (2009).
    • (2009) Nat. Protoc. , vol.4 , pp. 44-57
    • Huang Da, W.1    Sherman, B.T.2    Lempicki, R.A.3
  • 20
    • 77952214662 scopus 로고    scopus 로고
    • GREAT improves functional interpretation of cis-regulatory regions
    • McLean, C. Y. et al. GREAT improves functional interpretation of cis-regulatory regions. Nat. Biotechnol. 28, 495-501 (2010).
    • (2010) Nat. Biotechnol. , vol.28 , pp. 495-501
    • McLean, C.Y.1
  • 21
    • 84905593053 scopus 로고    scopus 로고
    • Mutations in SETD2 cause a novel overgrowth condition
    • Luscan, A. et al. Mutations in SETD2 cause a novel overgrowth condition. J. Med. Genet. 51, 512-517 (2014).
    • (2014) J. Med. Genet. , vol.51 , pp. 512-517
    • Luscan, A.1
  • 22
    • 84898057327 scopus 로고    scopus 로고
    • Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability
    • Tatton-Brown, K. et al. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat. Genet. 46, 385-388 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 385-388
    • Tatton-Brown, K.1
  • 23
    • 76049084596 scopus 로고    scopus 로고
    • Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
    • Berdasco, M. et al. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Proc. Natl Acad. Sci. USA 106, 21830-21835 (2009).
    • (2009) Proc. Natl Acad. Sci. USA , vol.106 , pp. 21830-21835
    • Berdasco, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.