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Volumn 10, Issue 7, 2015, Pages

Genome-Wide DNA methylation analysis identifies novel hypomethylated non- Pericentromeric genes with potential clinical implications in ICF syndrome

Author keywords

[No Author keywords available]

Indexed keywords

DNA METHYLTRANSFERASE 3B; UNTRANSLATED RNA; DNA (CYTOSINE 5) METHYLTRANSFERASE;

EID: 84941366089     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0132517     Document Type: Article
Times cited : (32)

References (33)
  • 1
    • 34248167741 scopus 로고    scopus 로고
    • Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF
    • PMID: 16722602
    • Ehrlich M, Jackson K, Weemaes C. (2006) Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF). Orphanet J Rare Dis 1: 2. PMID: 16722602
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 2
    • Ehrlich, M.1    Jackson, K.2    Weemaes, C.3
  • 2
    • 84885945266 scopus 로고    scopus 로고
    • Heterogeneous clinical presentation in ICF syndrome: Correlation with underlying gene defects
    • PMID: 23486536
    • Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE et al. (2013) Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 21(11):1219-25. doi: 10.1038/ejhg.2013.40 PMID: 23486536
    • (2013) Eur J Hum Genet , vol.21 , Issue.11 , pp. 1219-1225
    • Weemaes, C.M.1    Van Tol, M.J.2    Wang, J.3    Van Ostaijen-Ten, D.M.M.4    Van Eggermond, M.C.5    Thijssen, P.E.6
  • 3
    • 79958071640 scopus 로고    scopus 로고
    • ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation
    • PMID: 21549127 Jun 24
    • Moarefi AHI, Chédin F. (2011) ICF syndrome mutations cause a broad spectrum of biochemical defects in DNMT3B-mediated de novo DNA methylation. J Mol Biol. Jun 24; 409(5):758-72. doi: 10. 1016/j.jmb.2011.04.050 PMID: 21549127
    • (2011) J Mol Biol. , vol.409 , Issue.5 , pp. 758-772
    • Moarefi, A.H.I.1    Chédin, F.2
  • 4
    • 0034162852 scopus 로고    scopus 로고
    • Whole-genome methylation scan in ICF syndrome: Hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
    • PMID: 10699183
    • Kondo T, Bobek MP, Kuick R, Lamb B, Zhu X, Narayan A et al. (2000) Whole-genome methylation scan in ICF syndrome: hypomethylation of non-satellite DNA repeats D4Z4 and NBL2. Hum Mol Genet. 9(4):597-604. PMID: 10699183
    • (2000) Hum Mol Genet , vol.9 , Issue.4 , pp. 597-604
    • Kondo, T.1    Bobek, M.P.2    Kuick, R.3    Lamb, B.4    Zhu, X.5    Narayan, A.6
  • 5
    • 0035667192 scopus 로고    scopus 로고
    • DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes
    • PMID: 11741835
    • Ehrlich M, Buchanan KL, Tsien F, Jiang G, Sun B, UickerWet al. (2001) DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum Mol Genet 10(25):2917-31. PMID: 11741835
    • (2001) Hum Mol Genet , vol.10 , Issue.25 , pp. 2917-2931
    • Ehrlich, M.1    Buchanan, K.L.2    Tsien, F.3    Jiang, G.4    Sun, B.5    Uicker, W.6
  • 6
    • 39749152283 scopus 로고    scopus 로고
    • DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function
    • PMID: 18029387
    • Jin B, Tao Q, Peng J, Soo HM, Wu W, Ying J et al. (2008) DNA methyltransferase 3B (DNMT3B) mutations in ICF syndrome lead to altered epigenetic modifications and aberrant expression of genes regulating development, neurogenesis and immune function. Hum Mol Genet 17(5):690-709. PMID: 18029387
    • (2008) Hum Mol Genet , vol.17 , Issue.5 , pp. 690-709
    • Jin, B.1    Tao, Q.2    Peng, J.3    Soo, H.M.4    Wu, W.5    Ying, J.6
  • 7
    • 79955782459 scopus 로고    scopus 로고
    • Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome
    • PMID: 21559330
    • Brun ME, Lana E, Rivals I, Lefranc G, Sarda P, Claustres M et al. (2011). Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. PLoS One 6(4):e19464. doi: 10.1371/journal.pone.0019464 PMID: 21559330
    • (2011) PLoS One , vol.6 , Issue.4 , pp. e19464
    • Brun, M.E.1    Lana, E.2    Rivals, I.3    Lefranc, G.4    Sarda, P.5    Claustres, M.6
  • 8
    • 84861920481 scopus 로고    scopus 로고
    • Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient
    • PMID: 22595875
    • Heyn H, Vidal E, Sayols S, Sanchez-Mut JV, Moran S, Medina I et al. (2012) Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics 7(6):542-50. doi: 10.4161/epi.20523 PMID: 22595875
    • (2012) Epigenetics , vol.7 , Issue.6 , pp. 542-550
    • Heyn, H.1    Vidal, E.2    Sayols, S.3    Sanchez-Mut, J.V.4    Moran, S.5    Medina, I.6
  • 9
    • 77954682167 scopus 로고    scopus 로고
    • Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome
    • PMID: 20448464
    • Gatto S, Della Ragione F, Cimmino A, Strazzullo M, Fabbri M, Mutarelli M et al. (2010) Epigenetic alteration of microRNAs in DNMT3B-mutated patients of ICF syndrome. Epigenetics 5(5):427-43. PMID: 20448464
    • (2010) Epigenetics , vol.5 , Issue.5 , pp. 427-443
    • Gatto, S.1    Della Ragione, F.2    Cimmino, A.3    Strazzullo, M.4    Fabbri, M.5    Mutarelli, M.6
  • 10
    • 79958754527 scopus 로고    scopus 로고
    • Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome
    • PMID: 21593595
    • Sandoval J, Heyn HA, Moran S, Serra-Musach J, Pujana MA, Bibikova M et al. (2011) Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome. Epigenetics 6(6):692-702. PMID: 21593595
    • (2011) Epigenetics , vol.6 , Issue.6 , pp. 692-702
    • Sandoval, J.1    Heyn, H.A.2    Moran, S.3    Serra-Musach, J.4    Pujana, M.A.5    Bibikova, M.6
  • 11
    • 80053304450 scopus 로고    scopus 로고
    • High density DNA methylation array with single CpG site resolution
    • PMID: 21839163
    • Bibikova M, Barnes B, Tsan C, Ho V, Klotzle B, Le JM et al. (2011) High density DNA methylation array with single CpG site resolution. Genomics 98(4):288-95. doi: 10.1016/j.ygeno.2011.07.007 PMID: 21839163
    • (2011) Genomics , vol.98 , Issue.4 , pp. 288-295
    • Bibikova, M.1    Barnes, B.2    Tsan, C.3    Ho, V.4    Klotzle Le B, J.M.5
  • 12
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • PMID: 11846609
    • Livak KJ and Schmittgen TD. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25(4):402-8. PMID: 11846609
    • (2001) Methods , vol.25 , Issue.4 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 13
    • 0028593842 scopus 로고
    • Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients
    • PMID: 7881405
    • Miniou P, Jeanpierre M, Blanquet V, Sibella V, Bonneau D, Herbelin C et al. (1994) Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients. Hum Mol Genet 3(12):2093-102. PMID: 7881405
    • (1994) Hum Mol Genet , vol.3 , Issue.12 , pp. 2093-2102
    • Miniou, P.1    Jeanpierre, M.2    Blanquet, V.3    Sibella, V.4    Bonneau, D.5    Herbelin, C.6
  • 14
    • 0030969206 scopus 로고    scopus 로고
    • Alpha-satellite DNA methylation in normal individuals and in ICF patients: Heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues
    • PMID: 9187666
    • Miniou P, Jeanpierre M, Bourc'his D, Coutinho Barbosa AC, Blanquet V and Viegas-Péquignot E. (1997) Alpha-satellite DNA methylation in normal individuals and in ICF patients: heterogeneous methylation of constitutive heterochromatin in adult and fetal tissues. Hum Genet 99(6):738-45. PMID: 9187666
    • (1997) Hum Genet , vol.99 , Issue.6 , pp. 738-745
    • Miniou, P.1    Jeanpierre, M.2    Bourc'his, D.3    Coutinho Barbosa, A.C.4    Blanquet, V.5    Viegas-Péquignot, E.6
  • 15
    • 0034326857 scopus 로고    scopus 로고
    • Escape from gene silencing in ICF syndrome: Evidence for advanced replication time as a major determinant
    • PMID: 11063717
    • Hansen RS, Stöger R, Wijmenga C, Stanek AM, Canfield TK, Luo P et al. (2000) Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant. Hum Mol Genet. 9(18):2575-87. PMID: 11063717
    • (2000) Hum Mol Genet , vol.9 , Issue.18 , pp. 2575-2587
    • Hansen, R.S.1    Stöger, R.2    Wijmenga, C.3    Stanek, A.M.4    Canfield, T.K.5    Luo, P.6
  • 16
    • 0036900494 scopus 로고    scopus 로고
    • Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and y chromosomes
    • PMID: 12444103
    • Matarazzo MR, De Bonis ML, Gregory RI, Vacca M, Hansen RS, Mercadante G et al. (2002) Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y chromosomes. Hum Mol Genet. 11(25):3191-8. PMID: 12444103
    • (2002) Hum Mol Genet , vol.11 , Issue.25 , pp. 3191-3198
    • Matarazzo, M.R.1    De Bonis, M.L.2    Gregory, R.I.3    Vacca, M.4    Hansen, R.S.5    Mercadante, G.6
  • 17
    • 33846573778 scopus 로고    scopus 로고
    • Multiple binding of methyl-CpG and polycomb proteins in long-term gene silencing events
    • PMID: 17133344
    • Matarazzo MR, De Bonis ML, Strazzullo M, Cerase A, Ferraro M, Vastarelli P et al. (2007). Multiple binding of methyl-CpG and polycomb proteins in long-term gene silencing events. J Cell Physiol. 210 (3):711-9. PMID: 17133344
    • (2007) J Cell Physiol , vol.210 , Issue.3 , pp. 711-719
    • Matarazzo, M.R.1    De Bonis, M.L.2    Strazzullo, M.3    Cerase, A.4    Ferraro, M.5    Vastarelli, P.6
  • 18
    • 0027286618 scopus 로고
    • An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
    • PMID: 8102570
    • Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A et al. (1993) An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Mol Genet. 2(6):731-5. PMID: 8102570
    • (1993) Hum Mol Genet , vol.2 , Issue.6 , pp. 731-735
    • Jeanpierre, M.1    Turleau, C.2    Aurias, A.3    Prieur, M.4    Ledeist, F.5    Fischer, A.6
  • 19
    • 50849099769 scopus 로고    scopus 로고
    • Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions
    • PMID: 18558631
    • Yehezkel S, Segev Y, Viegas-Péquignot E, Skorecki K and Selig S. (2008) Hypomethylation of subtelomeric regions in ICF syndrome is associated with abnormally short telomeres and enhanced transcription from telomeric regions. Hum Mol Genet. 17(18):2776-89. doi: 10.1093/hmg/ddn177 PMID: 18558631
    • (2008) Hum Mol Genet , vol.17 , Issue.18 , pp. 2776-2789
    • Yehezkel, S.1    Segev, Y.2    Viegas-Péquignot, E.3    Skorecki, K.4    Selig, S.5
  • 20
    • 84892974636 scopus 로고    scopus 로고
    • Mining cancer methylomes: Prospects and challenges
    • PMID: 24368016
    • Stirzaker C, Taberlay PC, Statham AL, Clark SJ. (2014) Mining cancer methylomes: prospects and challenges. Trends Genet. 30(2):75-84. doi: 10.1016/j.tig.2013.11.004 PMID: 24368016
    • (2014) Trends Genet , vol.30 , Issue.2 , pp. 75-84
    • Stirzaker, C.1    Taberlay, P.C.2    Statham, A.L.3    Clark, S.J.4
  • 21
    • 59149084538 scopus 로고    scopus 로고
    • The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores
    • PMID: 19151715
    • Irizarry RA, Ladd-Acosta C, Wen B, Wu Z, Montano C, Onyango P et al. (2009) The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores. Nat Genet 41(2):178-86. doi: 10.1038/ng.298 PMID: 19151715
    • (2009) Nat Genet , vol.41 , Issue.2 , pp. 178-186
    • Irizarry, R.A.1    Ladd-Acosta, C.2    Wen, B.3    Wu, Z.4    Montano, C.5    Onyango, P.6
  • 22
    • 84858439628 scopus 로고    scopus 로고
    • Cancer epigenomics: Beyond genomics
    • PMID: 22402447
    • Sandoval J and Esteller M. (2012) Cancer epigenomics: beyond genomics. Curr Opin Genet Dev. 22 (1):50-5. doi: 10.1016/j.gde.2012.02.008 PMID: 22402447
    • (2012) Curr Opin Genet Dev , vol.22 , Issue.1 , pp. 50-55
    • Sandoval, J.1    Esteller, M.2
  • 23
    • 84899978054 scopus 로고    scopus 로고
    • Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: Implications for diagnosis and etiology
    • PMID: 24742017
    • Velasco G, Walton EL, Sterlin D, Hédouin S, Nitta H, Ito Y et al. (2014) Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. Orphanet J Rare Dis. 9:56. doi: 10.1186/1750-1172-9-56 PMID: 24742017
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 56
    • Velasco, G.1    Walton, E.L.2    Sterlin, D.3    Hédouin, S.4    Nitta, H.5    Ito, Y.6
  • 24
    • 84907555949 scopus 로고    scopus 로고
    • Dnmt3b prefers germ line genes and centromeric regions: Lessons from the ICF syndrome and cancer and implications for diseases
    • Walton EL, Francastel C and Velasco G. (2014) Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for Diseases. Biology (Basel) 3(3): 578-605.
    • (2014) Biology (Basel) , vol.3 , Issue.3 , pp. 578-605
    • Walton, E.L.1    Francastel, C.2    Velasco, G.3
  • 25
    • 84872734762 scopus 로고    scopus 로고
    • Expression pattern of Boule in dairy goat testis and its function in promoting the meiosis in male germline stem cells (mGSCs)
    • PMID: 22930651
    • Li M, Liu C, Zhu H, Sun J, Yu M, SongWet al. (2013) Expression pattern of Boule in dairy goat testis and its function in promoting the meiosis in male germline stem cells (mGSCs). J Cell Biochem. 114 (2):294-302. doi: 10.1002/jcb.24368 PMID: 22930651
    • (2013) J Cell Biochem , vol.114 , Issue.2 , pp. 294-302
    • Li, M.1    Liu, C.2    Zhu, H.3    Sun, J.4    Yu, M.5    Song, W.6
  • 26
    • 70449338047 scopus 로고    scopus 로고
    • Expression pattern of meiosis associated SYCP family members during germline development in chickens
    • PMID: 19525366
    • Zheng YH, Rengaraj D, Choi JW, Park KJ, Lee SI and Han JY. (2009) Expression pattern of meiosis associated SYCP family members during germline development in chickens. Reproduction 138 (3):483-92. doi: 10.1530/REP-09-0163 PMID: 19525366
    • (2009) Reproduction , vol.138 , Issue.3 , pp. 483-492
    • Zheng, Y.H.1    Rengaraj, D.2    Choi, J.W.3    Park, K.J.4    Lee, S.I.5    Han, J.Y.6
  • 27
    • 24044521055 scopus 로고    scopus 로고
    • Cloning and characterization of a novel intronless lactate dehydrogenase gene in human testis
    • PMID: 15870898
    • Wang H, Zhou Z, Lu L, Xu Z and Sha J. (2005) Cloning and characterization of a novel intronless lactate dehydrogenase gene in human testis. Int J Mol Med 15(6):949-53. PMID: 15870898
    • (2005) Int J Mol Med , vol.15 , Issue.6 , pp. 949-953
    • Wang, H.1    Zhou, Z.2    Lu, L.3    Xu, Z.4    Sha, J.5
  • 28
    • 84901778874 scopus 로고    scopus 로고
    • Non-coding RNAs in chromatin disease involving neurological defects
    • PMID: 24616662
    • Della Ragione F, Gagliardi M, D'Esposito M and Matarazzo MR. (2014) Non-coding RNAs in chromatin disease involving neurological defects Front Cell Neurosci. 8:54. doi: 10.3389/fncel.2014.00054 PMID: 24616662
    • (2014) Front Cell Neurosci , vol.8 , pp. 54
    • Della Ragione, F.1    Gagliardi, M.2    D'Esposito, M.3    Matarazzo, M.R.4
  • 29
    • 40849139208 scopus 로고    scopus 로고
    • Epigenetics in cancer
    • PMID: 18337604
    • Esteller M. (2008) Epigenetics in cancer. N Engl J Med 358(11):1148-59. doi: 10.1056/ NEJMra072067 PMID: 18337604
    • (2008) N Engl J Med , vol.358 , Issue.11 , pp. 1148-1159
    • Esteller, M.1
  • 30
    • 84898743002 scopus 로고    scopus 로고
    • DERL3- associated defect in the degradation of SLC2A1 mediates the Warburg effect
    • PMID: 24699711
    • Lopez-Serra P, Marcilla M, Villanueva A, Ramos-Fernandez A, Palau A, leal L et al. (2014) DERL3- associated defect in the degradation of SLC2A1 mediates the Warburg effect. Nat Commun. 5:3608. doi: 10.1038/ncomms4608 PMID: 24699711
    • (2014) Nat Commun , vol.5 , pp. 3608
    • Lopez-Serra, P.1    Marcilla, M.2    Villanueva, A.3    Ramos-Fernandez, A.4    Palau, A.5    Leal, L.6
  • 31
    • 84884382332 scopus 로고    scopus 로고
    • MIR-221/ 222 target the DNA methyltransferase MGMT in glioma cells
    • PMID: 24147153
    • Quintavalle C, Mangani D, Roscigno G, Romano G, Diaz-Lagares A, Iaboni M et al. (2013) MiR-221/ 222 target the DNA methyltransferase MGMT in glioma cells. Plos One 8(9):e74466. doi: 10.1371/ journal.pone.0074466 PMID: 24147153
    • (2013) Plos One , vol.8 , Issue.9 , pp. e74466
    • Quintavalle, C.1    Mangani, D.2    Roscigno, G.3    Romano, G.4    Diaz-Lagares, A.5    Iaboni, M.6
  • 32
    • 77952695371 scopus 로고    scopus 로고
    • Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues
    • PMID: 20439742
    • Velasco G, Hube F, Rollin J, Neuillet D, Philippe C, Bouzinba-Segard H et al. (2010). Dnmt3b recruitment through E2F6 transcriptional repressor mediates germ-line gene silencing in murine somatic tissues. Proc Natl Acad Sci U S A 107:9281-9286. doi: 10.1073/pnas.1000473107 PMID: 20439742
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 9281-9286
    • Velasco, G.1    Hube, F.2    Rollin, J.3    Neuillet, D.4    Philippe, C.5    Bouzinba-Segard, H.6


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