메뉴 건너뛰기




Volumn 16, Issue 12, 2014, Pages 903-912

Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations

(22)  Maeda, Toshiyuki a,b   Higashimoto, Ken b   Jozaki, Kosuke c   Yatsuki, Hitomi d   Nakabayashi, Kazuhiko e   Makita, Yoshio f   Tonoki, Hidefumi g   Okamoto, Nobuhiko h   Takada, Fumio i   Ohashi, Hirofumi j   Migita, Makoto c   Kosaki, Rika k   Matsubara, Keiko l   Ogata, Tsutomu a   Matsuo, Muneaki j   Hamasaki, Yuhei a,b   Ohtsuka, Yasufumi a   Nishioka, Kenichi a   Joh, Keiichiro a   Mukai, Tsunehiro l   more..


Author keywords

Beckwith Wiedemann syndrome; differentially methylated region; DNA methylation; genomic imprinting; multiple methylation defects

Indexed keywords

BISULFITE; GLYCERALDEHYDE 3 PHOSPHATE DEHYDROGENASE; DNA;

EID: 84922491343     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.46     Document Type: Article
Times cited : (36)

References (38)
  • 1
    • 84860357325 scopus 로고    scopus 로고
    • Genomic imprinting: Recognition and marking of imprinted loci
    • Abramowitz LK, Bartolomei MS. Genomic imprinting: recognition and marking of imprinted loci. Curr Opin Genet Dev 2012;22:72-78
    • (2012) Curr Opin Genet Dev , vol.22 , pp. 72-78
    • Abramowitz, L.K.1    Bartolomei, M.S.2
  • 2
    • 84857727055 scopus 로고    scopus 로고
    • Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell
    • Tomizawa S, Sasaki H. Genomic imprinting and its relevance to congenital disease, infertility, molar pregnancy and induced pluripotent stem cell. J Hum Genet 2012;57:84-91
    • (2012) J Hum Genet , vol.57 , pp. 84-91
    • Tomizawa, S.1    Sasaki, H.2
  • 5
    • 84880853672 scopus 로고    scopus 로고
    • Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders
    • Soejima H, Higashimoto K. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders. J Hum Genet 2013;58:402-409
    • (2013) J Hum Genet , vol.58 , pp. 402-409
    • Soejima, H.1    Higashimoto, K.2
  • 6
    • 33746972820 scopus 로고    scopus 로고
    • A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus
    • Mackay DJ, Boonen SE, Clayton-Smith J, et al. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 2006;120:262-269
    • (2006) Hum Genet , vol.120 , pp. 262-269
    • Mackay, D.J.1    Boonen, S.E.2    Clayton-Smith, J.3
  • 7
    • 33846157180 scopus 로고    scopus 로고
    • The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
    • Rossignol S, Steunou V, Chalas C, et al. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. J Med Genet 2006;43:902-907
    • (2006) J Med Genet , vol.43 , pp. 902-907
    • Rossignol, S.1    Steunou, V.2    Chalas, C.3
  • 8
    • 67349253397 scopus 로고    scopus 로고
    • Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome
    • Bliek J, Verde G, Callaway J, et al. Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. Eur J Hum Genet 2009;17:611-619
    • (2009) Eur J Hum Genet , vol.17 , pp. 611-619
    • Bliek, J.1    Verde, G.2    Callaway, J.3
  • 9
    • 70450162112 scopus 로고    scopus 로고
    • Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
    • Azzi S, Rossignol S, Steunou V, et al. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 2009;18:4724-4733
    • (2009) Hum Mol Genet , vol.18 , pp. 4724-4733
    • Azzi, S.1    Rossignol, S.2    Steunou, V.3
  • 10
    • 61449159829 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
    • Lim D, Bowdin SC, Tee L, et al. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod 2009;24:741-747
    • (2009) Hum Reprod , vol.24 , pp. 741-747
    • Lim, D.1    Bowdin, S.C.2    Tee, L.3
  • 11
    • 84881661981 scopus 로고    scopus 로고
    • International clinical imprinting consortium targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
    • Poole RL, Docherty LE, Al Sayegh A, et al.; International Clinical Imprinting Consortium. Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am J Med Genet A 2013;161:2174-2182
    • (2013) Am J Med Genet A , vol.161 , pp. 2174-2182
    • Poole, R.L.1    Docherty, L.E.2    Al Sayegh, A.3
  • 12
    • 84875549355 scopus 로고    scopus 로고
    • Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes
    • Court F, Martin-Trujillo A, Romanelli V, et al. Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. Hum Mutat 2013;34:595-602
    • (2013) Hum Mutat , vol.34 , pp. 595-602
    • Court, F.1    Martin-Trujillo, A.2    Romanelli, V.3
  • 13
    • 84894749486 scopus 로고    scopus 로고
    • Epimutation profiling in beckwith-wiedemann syndrome: Relationship with assisted reproductive technology
    • Tee L, Lim DH, Dias RP, et al. Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology. Clin Epigenetics 2013;5:23
    • (2013) Clin Epigenetics , vol.5 , pp. 23
    • Tee, L.1    Lim, D.H.2    Dias, R.P.3
  • 14
    • 0031940675 scopus 로고    scopus 로고
    • Risk of cancer during the first four years of life in children from the Beckwith-Wiedemann Syndrome Registry
    • DeBaun MR, Tucker MA. Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry. J Pediatr 1998;132(3 Pt 1):398-400
    • (1998) J Pediatr , vol.132 , Issue.1-3 , pp. 398-400
    • Debaun, M.R.1    Tucker, M.A.2
  • 15
    • 2642519400 scopus 로고    scopus 로고
    • Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer
    • Soejima H, Nakagawachi T, Zhao W, et al. Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer. Oncogene 2004;23:4380-4388
    • (2004) Oncogene , vol.23 , pp. 4380-4388
    • Soejima, H.1    Nakagawachi, T.2    Zhao, W.3
  • 16
    • 84862638332 scopus 로고    scopus 로고
    • Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome
    • Higashimoto K, Nakabayashi K, Yatsuki H, et al. Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome. Am J Med Genet A 2012;158A:1670-1675
    • (2012) Am J Med Genet A , vol.158 , pp. 1670-1675
    • Higashimoto, K.1    Nakabayashi, K.2    Yatsuki, H.3
  • 17
    • 84880899928 scopus 로고    scopus 로고
    • Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome
    • Yatsuki H, Higashimoto K, Jozaki K, et al. Novel mutations of CDKN1C in Japanese patients with Beckwith-Wiedemann syndrome. Genes &Genomics 2013;35:141-147
    • (2013) Genes &genomics , vol.35 , pp. 141-147
    • Yatsuki, H.1    Higashimoto, K.2    Jozaki, K.3
  • 18
    • 85205842400 scopus 로고    scopus 로고
    • A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient
    • e-pub ahead of print 8 November 2013
    • Higashimoto K, Jozaki K, Kosho T, et al. A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient. Clin Genet 2013; e-pub ahead of print 8 November 2013
    • (2013) Clin Genet
    • Higashimoto, K.1    Jozaki, K.2    Kosho, T.3
  • 19
    • 27644548948 scopus 로고    scopus 로고
    • Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry
    • Ehrich M, Nelson MR, Stanssens P, et al. Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry. Proc Natl Acad Sci USA 2005;102:15785-15790
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 15785-15790
    • Ehrich, M.1    Nelson, M.R.2    Stanssens, P.3
  • 20
    • 84891010570 scopus 로고    scopus 로고
    • Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma
    • Rumbajan JM, Maeda T, Souzaki R, et al. Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma. BMC Cancer 2013;13:608
    • (2013) BMC Cancer , vol.13 , pp. 608
    • Rumbajan, J.M.1    Maeda, T.2    Souzaki, R.3
  • 21
    • 0037112364 scopus 로고    scopus 로고
    • Loss of imprinting in colorectal cancer linked to hypomethylation of H19 and IGF2
    • Cui H, Onyango P, Brandenburg S, Wu Y, Hsieh CL, Feinberg AP. Loss of imprinting in colorectal cancer linked to hypomethylation of H19 and IGF2. Cancer Res 2002;62:6442-6446
    • (2002) Cancer Res , vol.62 , pp. 6442-6446
    • Cui, H.1    Onyango, P.2    Brandenburg, S.3    Wu, Y.4    Hsieh, C.L.5    Feinberg, A.P.6
  • 22
    • 46649097230 scopus 로고    scopus 로고
    • Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer
    • Murrell A, Ito Y, Verde G, et al. Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer. PLoS One 2008;3: e1849
    • (2008) PLoS One , vol.3 , pp. e1849
    • Murrell, A.1    Ito, Y.2    Verde, G.3
  • 23
    • 79251579948 scopus 로고    scopus 로고
    • Quantitative analysis of DNA methylation at all human imprinted regions reveals preservation of epigenetic stability in adult somatic tissue
    • Woodfine K, Huddleston JE, Murrell A. Quantitative analysis of DNA methylation at all human imprinted regions reveals preservation of epigenetic stability in adult somatic tissue. Epigenetics Chromatin 2011;4:1
    • (2011) Epigenetics Chromatin , vol.4 , pp. 1
    • Woodfine, K.1    Huddleston, J.E.2    Murrell, A.3
  • 24
    • 0030856668 scopus 로고    scopus 로고
    • Imprinting in clusters: Lessons from Beckwith-Wiedemann syndrome
    • Reik W, Maher ER. Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet 1997;13:330-334
    • (1997) Trends Genet , vol.13 , pp. 330-334
    • Reik, W.1    Maher, E.R.2
  • 25
    • 64149106282 scopus 로고    scopus 로고
    • Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2
    • Kobayashi H, Yamada K, Morita S, et al. Identification of the mouse paternally expressed imprinted gene Zdbf2 on chromosome 1 and its imprinted human homolog ZDBF2 on chromosome 2. Genomics 2009;93:461-472
    • (2009) Genomics , vol.93 , pp. 461-472
    • Kobayashi, H.1    Yamada, K.2    Morita, S.3
  • 26
    • 79960804327 scopus 로고    scopus 로고
    • Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes
    • Nakabayashi K, Trujillo AM, Tayama C, et al. Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes. Hum Mol Genet 2011;20:3188-3197
    • (2011) Hum Mol Genet , vol.20 , pp. 3188-3197
    • Nakabayashi, K.1    Trujillo, A.M.2    Tayama, C.3
  • 28
    • 77950523023 scopus 로고    scopus 로고
    • Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCTbinding sequences, in patients with 11p15 fetal growth disorders
    • Demars J, Shmela ME, Rossignol S, et al. Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCTbinding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet 2010;19:803-814
    • (2010) Hum Mol Genet , vol.19 , pp. 803-814
    • Demars, J.1    Shmela, M.E.2    Rossignol, S.3
  • 29
    • 18444407168 scopus 로고    scopus 로고
    • Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome
    • Weksberg R, Shuman C, Caluseriu O, et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet 2002;11:1317-1325
    • (2002) Hum Mol Genet , vol.11 , pp. 1317-1325
    • Weksberg, R.1    Shuman, C.2    Caluseriu, O.3
  • 30
    • 0038002236 scopus 로고    scopus 로고
    • Analysis and quantification of multiple methylation variable positions in CpG islands by Pyrosequencing
    • Tost J, Dunker J, Gut IG. Analysis and quantification of multiple methylation variable positions in CpG islands by Pyrosequencing. Biotechniques 2003;35:152-156
    • (2003) Biotechniques , vol.35 , pp. 152-156
    • Tost, J.1    Dunker, J.2    Gut, I.G.3
  • 31
    • 84863794936 scopus 로고    scopus 로고
    • A systematic comparison of quantitative high-resolution DNA methylation analysis and methylation-specific PCR
    • Claus R, Wilop S, Hielscher T, et al. A systematic comparison of quantitative high-resolution DNA methylation analysis and methylation-specific PCR. Epigenetics 2012;7:772-780
    • (2012) Epigenetics , vol.7 , pp. 772-780
    • Claus, R.1    Wilop, S.2    Hielscher, T.3
  • 32
    • 48349092985 scopus 로고    scopus 로고
    • Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
    • Mackay DJ, Callaway JL, Marks SM, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008;40:949-951
    • (2008) Nat Genet , vol.40 , pp. 949-951
    • Mackay, D.J.1    Callaway, J.L.2    Marks, S.M.3
  • 33
    • 63449130373 scopus 로고    scopus 로고
    • Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome)
    • Meyer E, Lim D, Pasha S, et al. Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoS Genet 2009;5:e1000423
    • (2009) PLoS Genet , vol.5 , pp. e1000423
    • Meyer, E.1    Lim, D.2    Pasha, S.3
  • 34
    • 84883474570 scopus 로고    scopus 로고
    • Single-cell DNA-methylation analysis reveals epigenetic chimerism in preimplantation embryos
    • Lorthongpanich C, Cheow LF, Balu S, et al. Single-cell DNA-methylation analysis reveals epigenetic chimerism in preimplantation embryos. Science 2013;341:1110-1112
    • (2013) Science , vol.341 , pp. 1110-1112
    • Lorthongpanich, C.1    Cheow, L.F.2    Balu, S.3
  • 35
    • 0028862472 scopus 로고
    • Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain
    • Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher ER. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet 1995;4:2379-2385
    • (1995) Hum Mol Genet , vol.4 , pp. 2379-2385
    • Reik, W.1    Brown, K.W.2    Schneid, H.3    Le Bouc, Y.4    Bickmore, W.5    Maher, E.R.6
  • 36
    • 33847306554 scopus 로고    scopus 로고
    • Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms tumour
    • Sparago A, Russo S, Cerrato F, et al. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms tumour. Hum Mol Genet 2007;16:254-264
    • (2007) Hum Mol Genet , vol.16 , pp. 254-264
    • Sparago, A.1    Russo, S.2    Cerrato, F.3
  • 37
    • 0037322392 scopus 로고    scopus 로고
    • Epigenetic modifications in an imprinting cluster are controlled by a hierarchy of DMRs suggesting long-range chromatin interactions
    • Lopes S, Lewis A, Hajkova P, et al. Epigenetic modifications in an imprinting cluster are controlled by a hierarchy of DMRs suggesting long-range chromatin interactions. Hum Mol Genet 2003;12:295-305
    • (2003) Hum Mol Genet , vol.12 , pp. 295-305
    • Lopes, S.1    Lewis, A.2    Hajkova, P.3
  • 38
    • 0035680734 scopus 로고    scopus 로고
    • An intragenic methylated region in the imprinted Igf2 gene augments transcription
    • Murrell A, Heeson S, Bowden L, et al. An intragenic methylated region in the imprinted Igf2 gene augments transcription. EMBO Rep 2001;2:1101-1106
    • (2001) EMBO Rep , vol.2 , pp. 1101-1106
    • Murrell, A.1    Heeson, S.2    Bowden, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.