The H3K27me3 demethylase UTX in normal development and disease

References

• Shi Y, Lan F, Matson C, Mulligan P, Whetstine JR, Cole PA, Casero RA, Shi Y. Histone demethylation mediated by the nuclear amine oxidase homolog LSD1. Cell 2004; 119:941 - 53; http://dx.doi.org/10.1016/j.cell.2004.12.012; PMID: 15620353
   PubMed Web of Science ®Google Scholar
• Kooistra SM, Helin K. Molecular mechanisms and potential functions of histone demethylases. Nat Rev Mol Cell Biol 2012; 13:297 - 311; PMID: 22473470
   PubMed Web of Science ®Google Scholar
• Lan F, Bayliss PE, Rinn JL, Whetstine JR, Wang JK, Chen S, Iwase S, Alpatov R, Issaeva I, Canaani E, et al. A histone H3 lysine 27 demethylase regulates animal posterior development. Nature 2007; 449:689 - 94; http://dx.doi.org/10.1038/nature06192; PMID: 17851529
   PubMed Web of Science ®Google Scholar
• Agger K, Cloos PA, Christensen J, Pasini D, Rose S, Rappsilber J, Issaeva I, Canaani E, Salcini AE, Helin K. UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development. Nature 2007; 449:731 - 4; http://dx.doi.org/10.1038/nature06145; PMID: 17713478
   PubMed Web of Science ®Google Scholar
• Lee MG, Villa R, Trojer P, Norman J, Yan KP, Reinberg D, Di Croce L, Shiekhattar R. Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination. Science 2007; 318:447 - 50; http://dx.doi.org/10.1126/science.1149042; PMID: 17761849
   PubMed Web of Science ®Google Scholar
• De Santa F, Totaro MG, Prosperini E, Notarbartolo S, Testa G, Natoli G. The histone H3 lysine-27 demethylase Jmjd3 links inflammation to inhibition of polycomb-mediated gene silencing. Cell 2007; 130:1083 - 94; http://dx.doi.org/10.1016/j.cell.2007.08.019; PMID: 17825402
   PubMed Web of Science ®Google Scholar
• Hong S, Cho YW, Yu LR, Yu H, Veenstra TD, Ge K. Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases. Proc Natl Acad Sci U S A 2007; 104:18439 - 44; http://dx.doi.org/10.1073/pnas.0707292104; PMID: 18003914
   PubMed Web of Science ®Google Scholar
• Issaeva I, Zonis Y, Rozovskaia T, Orlovsky K, Croce CM, Nakamura T, Mazo A, Eisenbach L, Canaani E. Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth. Mol Cell Biol 2007; 27:1889 - 903; http://dx.doi.org/10.1128/MCB.01506-06; PMID: 17178841
   PubMed Web of Science ®Google Scholar
• Cho YW, Hong T, Hong S, Guo H, Yu H, Kim D, Guszczynski T, Dressler GR, Copeland TD, Kalkum M, et al. PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. J Biol Chem 2007; 282:20395 - 406; http://dx.doi.org/10.1074/jbc.M701574200; PMID: 17500065
   PubMed Web of Science ®Google Scholar
• Miller SA, Mohn SE, Weinmann AS. Jmjd3 and UTX play a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expression. Mol Cell 2010; 40:594 - 605; http://dx.doi.org/10.1016/j.molcel.2010.10.028; PMID: 21095589
   PubMed Web of Science ®Google Scholar
• Lee S, Lee JW, Lee SK. UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program. Dev Cell 2012; 22:25 - 37; http://dx.doi.org/10.1016/j.devcel.2011.11.009; PMID: 22192413
   PubMed Web of Science ®Google Scholar
• Welstead GG, Creyghton MP, Bilodeau S, Cheng AW, Markoulaki S, Young RA, Jaenisch R. X-linked H3K27me3 demethylase Utx is required for embryonic development in a sex-specific manner. Proc Natl Acad Sci U S A 2012; 109:13004 - 9; http://dx.doi.org/10.1073/pnas.1210787109; PMID: 22826230
   PubMed Web of Science ®Google Scholar
• Wang C, Lee JE, Cho YW, Xiao Y, Jin Q, Liu C, Ge K. UTX regulates mesoderm differentiation of embryonic stem cells independent of H3K27 demethylase activity. Proc Natl Acad Sci U S A 2012; 109:15324 - 9; http://dx.doi.org/10.1073/pnas.1204166109; PMID: 22949634
   PubMed Web of Science ®Google Scholar
• Shpargel KB, Sengoku T, Yokoyama S, Magnuson T. UTX and UTY demonstrate histone demethylase-independent function in mouse embryonic development. PLoS Genet 2012; 8:e1002964; http://dx.doi.org/10.1371/journal.pgen.1002964; PMID: 23028370
   PubMed Web of Science ®Google Scholar
• Thieme S, Gyárfás T, Richter C, Özhan G, Fu J, Alexopoulou D, Muders MH, Michalk I, Jakob C, Dahl A, et al. The histone demethylase UTX regulates stem cell migration and hematopoiesis. Blood 2013; 121:2462 - 73; http://dx.doi.org/10.1182/blood-2012-08-452003; PMID: 23365460
   PubMed Web of Science ®Google Scholar
• Seenundun S, Rampalli S, Liu QC, Aziz A, Palii C, Hong S, Blais A, Brand M, Ge K, Dilworth FJ. UTX mediates demethylation of H3K27me3 at muscle-specific genes during myogenesis. EMBO J 2010; 29:1401 - 11; http://dx.doi.org/10.1038/emboj.2010.37; PMID: 20300060
   PubMed Web of Science ®Google Scholar
• Wang AH, Zare H, Mousavi K, Wang C, Moravec CE, Sirotkin HI, Ge K, Gutierrez-Cruz G, Sartorelli V. The histone chaperone Spt6 coordinates histone H3K27 demethylation and myogenesis. EMBO J 2013; 32:1075 - 86; http://dx.doi.org/10.1038/emboj.2013.54; PMID: 23503590
   PubMed Web of Science ®Google Scholar
• van Haaften G, Dalgliesh GL, Davies H, Chen L, Bignell G, Greenman C, Edkins S, Hardy C, O’Meara S, Teague J, et al. Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat Genet 2009; 41:521 - 3; http://dx.doi.org/10.1038/ng.349; PMID: 19330029
   PubMed Web of Science ®Google Scholar
• Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat 2013; 34:108 - 10; http://dx.doi.org/10.1002/humu.22229; PMID: 23076834
   PubMed Web of Science ®Google Scholar
• Herz HM, Madden LD, Chen Z, Bolduc C, Buff E, Gupta R, Davuluri R, Shilatifard A, Hariharan IK, Bergmann A. The H3K27me3 demethylase dUTX is a suppressor of Notch- and Rb-dependent tumors in Drosophila. Mol Cell Biol 2010; 30:2485 - 97; http://dx.doi.org/10.1128/MCB.01633-09; PMID: 20212086
   PubMed Web of Science ®Google Scholar
• Cao R, Wang L, Wang H, Xia L, Erdjument-Bromage H, Tempst P, Jones RS, Zhang Y. Role of histone H3 lysine 27 methylation in Polycomb-group silencing. Science 2002; 298:1039 - 43; http://dx.doi.org/10.1126/science.1076997; PMID: 12351676
   PubMed Web of Science ®Google Scholar
• Czermin B, Melfi R, McCabe D, Seitz V, Imhof A, Pirrotta V. Drosophila enhancer of Zeste/ESC complexes have a histone H3 methyltransferase activity that marks chromosomal Polycomb sites. Cell 2002; 111:185 - 96; http://dx.doi.org/10.1016/S0092-8674(02)00975-3; PMID: 12408863
   PubMed Web of Science ®Google Scholar
• Kuzmichev A, Nishioka K, Erdjument-Bromage H, Tempst P, Reinberg D. Histone methyltransferase activity associated with a human multiprotein complex containing the Enhancer of Zeste protein. Genes Dev 2002; 16:2893 - 905; http://dx.doi.org/10.1101/gad.1035902; PMID: 12435631
   PubMed Web of Science ®Google Scholar
• Müller J, Hart CM, Francis NJ, Vargas ML, Sengupta A, Wild B, Miller EL, O’Connor MB, Kingston RE, Simon JA. Histone methyltransferase activity of a Drosophila Polycomb group repressor complex. Cell 2002; 111:197 - 208; http://dx.doi.org/10.1016/S0092-8674(02)00976-5; PMID: 12408864
   PubMed Web of Science ®Google Scholar
• Kim E, Song JJ. Diverse ways to be specific: a novel Zn-binding domain confers substrate specificity to UTX/KDM6A histone H3 Lys 27 demethylase. Genes Dev 2011; 25:2223 - 6; http://dx.doi.org/10.1101/gad.179473.111; PMID: 22056667
   PubMed Web of Science ®Google Scholar
• Sengoku T, Yokoyama S. Structural basis for histone H3 Lys 27 demethylation by UTX/KDM6A. Genes Dev 2011; 25:2266 - 77; http://dx.doi.org/10.1101/gad.172296.111; PMID: 22002947
   PubMed Web of Science ®Google Scholar
• Smith ER, Lee MG, Winter B, Droz NM, Eissenberg JC, Shiekhattar R, Shilatifard A. Drosophila UTX is a histone H3 Lys27 demethylase that colocalizes with the elongating form of RNA polymerase II. Mol Cell Biol 2008; 28:1041 - 6; http://dx.doi.org/10.1128/MCB.01504-07; PMID: 18039863
   PubMed Web of Science ®Google Scholar
• Vandamme J, Lettier G, Sidoli S, Di Schiavi E, Nørregaard Jensen O, Salcini AE. The C. elegans H3K27 demethylase UTX-1 is essential for normal development, independent of its enzymatic activity. PLoS Genet 2012; 8:e1002647; http://dx.doi.org/10.1371/journal.pgen.1002647; PMID: 22570628
   PubMed Web of Science ®Google Scholar
• Mohan M, Herz HM, Smith ER, Zhang Y, Jackson J, Washburn MP, Florens L, Eissenberg JC, Shilatifard A. The COMPASS family of H3K4 methylases in Drosophila. Mol Cell Biol 2011; 31:4310 - 8; http://dx.doi.org/10.1128/MCB.06092-11; PMID: 21875999
   PubMed Web of Science ®Google Scholar
• Herz HM, Mohan M, Garruss AS, Liang K, Takahashi YH, Mickey K, Voets O, Verrijzer CP, Shilatifard A. Enhancer-associated H3K4 monomethylation by Trithorax-related, the Drosophila homolog of mammalian Mll3/Mll4. Genes Dev 2012; 26:2604 - 20; http://dx.doi.org/10.1101/gad.201327.112; PMID: 23166019
   PubMed Web of Science ®Google Scholar
• Kanda H, Nguyen A, Chen L, Okano H, Hariharan IK. The Drosophila ortholog of MLL3 and MLL4, trithorax related, functions as a negative regulator of tissue growth. Mol Cell Biol 2013; 33:1702 - 10; http://dx.doi.org/10.1128/MCB.01585-12; PMID: 23459941
   PubMed Web of Science ®Google Scholar
• Plass C, Pfister SM, Lindroth AM, Bogatyrova O, Claus R, Lichter P. Mutations in regulators of the epigenome and their connections to global chromatin patterns in cancer. Nat Rev Genet 2013; 14:765 - 80; http://dx.doi.org/10.1038/nrg3554; PMID: 24105274
   PubMed Web of Science ®Google Scholar
• Hassan AH, Prochasson P, Neely KE, Galasinski SC, Chandy M, Carrozza MJ, Workman JL. Function and selectivity of bromodomains in anchoring chromatin-modifying complexes to promoter nucleosomes. Cell 2002; 111:369 - 79; http://dx.doi.org/10.1016/S0092-8674(02)01005-X; PMID: 12419247
   PubMed Web of Science ®Google Scholar
• Wang GG, Allis CD, Chi P. Chromatin remodeling and cancer, Part II: ATP-dependent chromatin remodeling. Trends Mol Med 2007; 13:373 - 80; http://dx.doi.org/10.1016/j.molmed.2007.07.004; PMID: 17822959
   PubMed Web of Science ®Google Scholar
• Wilson V, Conlon FL. The T-box family. Genome Biol 2002; 3:REVIEWS3008; http://dx.doi.org/10.1186/gb-2002-3-6-reviews3008; PMID: 12093383
   PubMedGoogle Scholar
• Naidu SR, Love IM, Imbalzano AN, Grossman SR, Androphy EJ. The SWI/SNF chromatin remodeling subunit BRG1 is a critical regulator of p53 necessary for proliferation of malignant cells. Oncogene 2009; 28:2492 - 501; http://dx.doi.org/10.1038/onc.2009.121; PMID: 19448667
   PubMed Web of Science ®Google Scholar
• Tie F, Banerjee R, Conrad PA, Scacheri PC, Harte PJ. Histone demethylase UTX and chromatin remodeler BRM bind directly to CBP and modulate acetylation of histone H3 lysine 27. Mol Cell Biol 2012; 32:2323 - 34; http://dx.doi.org/10.1128/MCB.06392-11; PMID: 22493065
   PubMed Web of Science ®Google Scholar
• Mallo M, Alonso CR. The regulation of Hox gene expression during animal development. Development 2013; 140:3951 - 63; http://dx.doi.org/10.1242/dev.068346; PMID: 24046316
   PubMed Web of Science ®Google Scholar
• Shah N, Sukumar S. The Hox genes and their roles in oncogenesis. Nat Rev Cancer 2010; 10:361 - 71; http://dx.doi.org/10.1038/nrc2826; PMID: 20357775
   PubMed Web of Science ®Google Scholar
• Bracken AP, Dietrich N, Pasini D, Hansen KH, Helin K. Genome-wide mapping of Polycomb target genes unravels their roles in cell fate transitions. Genes Dev 2006; 20:1123 - 36; http://dx.doi.org/10.1101/gad.381706; PMID: 16618801
   PubMed Web of Science ®Google Scholar
• Wang JK, Tsai MC, Poulin G, Adler AS, Chen S, Liu H, Shi Y, Chang HY. The histone demethylase UTX enables RB-dependent cell fate control. Genes Dev 2010; 24:327 - 32; http://dx.doi.org/10.1101/gad.1882610; PMID: 20123895
   PubMed Web of Science ®Google Scholar
• Terashima M, Ishimura A, Yoshida M, Suzuki Y, Sugano S, Suzuki T. The tumor suppressor Rb and its related Rbl2 genes are regulated by Utx histone demethylase. Biochem Biophys Res Commun 2010; 399:238 - 44; http://dx.doi.org/10.1016/j.bbrc.2010.07.061; PMID: 20650264
   PubMed Web of Science ®Google Scholar
• Wutz A. Gene silencing in X-chromosome inactivation: advances in understanding facultative heterochromatin formation. Nat Rev Genet 2011; 12:542 - 53; http://dx.doi.org/10.1038/nrg3035; PMID: 21765457
   PubMed Web of Science ®Google Scholar
• Margueron R, Reinberg D. The Polycomb complex PRC2 and its mark in life. Nature 2011; 469:343 - 9; http://dx.doi.org/10.1038/nature09784; PMID: 21248841
   PubMed Web of Science ®Google Scholar
• Greenfield A, Carrel L, Pennisi D, Philippe C, Quaderi N, Siggers P, Steiner K, Tam PP, Monaco AP, Willard HF, et al. The UTX gene escapes X inactivation in mice and humans. Hum Mol Genet 1998; 7:737 - 42; http://dx.doi.org/10.1093/hmg/7.4.737; PMID: 9499428
   PubMed Web of Science ®Google Scholar
• Berletch JB, Deng X, Nguyen DK, Disteche CM. Female bias in Rhox6 and 9 regulation by the histone demethylase KDM6A. PLoS Genet 2013; 9:e1003489; http://dx.doi.org/10.1371/journal.pgen.1003489; PMID: 23658530
   PubMedGoogle Scholar
• Xu J, Deng X, Watkins R, Disteche CM. Sex-specific differences in expression of histone demethylases Utx and Uty in mouse brain and neurons. J Neurosci 2008; 28:4521 - 7; http://dx.doi.org/10.1523/JNEUROSCI.5382-07.2008; PMID: 18434530
   PubMed Web of Science ®Google Scholar
• Rada-Iglesias A, Wysocka J. Epigenomics of human embryonic stem cells and induced pluripotent stem cells: insights into pluripotency and implications for disease. Genome Med 2011; 3:36; http://dx.doi.org/10.1186/gm252; PMID: 21658297
   PubMedGoogle Scholar
• Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 2006; 126:663 - 76; http://dx.doi.org/10.1016/j.cell.2006.07.024; PMID: 16904174
   PubMed Web of Science ®Google Scholar
• Mansour AA, Gafni O, Weinberger L, Zviran A, Ayyash M, Rais Y, Krupalnik V, Zerbib M, Amann-Zalcenstein D, Maza I, et al. The H3K27 demethylase Utx regulates somatic and germ cell epigenetic reprogramming. Nature 2012; 488:409 - 13; http://dx.doi.org/10.1038/nature11272; PMID: 22801502
   PubMed Web of Science ®Google Scholar
• Boyer LA, Plath K, Zeitlinger J, Brambrink T, Medeiros LA, Lee TI, Levine SS, Wernig M, Tajonar A, Ray MK, et al. Polycomb complexes repress developmental regulators in murine embryonic stem cells. Nature 2006; 441:349 - 53; http://dx.doi.org/10.1038/nature04733; PMID: 16625203
   PubMed Web of Science ®Google Scholar
• Bernstein BE, Mikkelsen TS, Xie X, Kamal M, Huebert DJ, Cuff J, Fry B, Meissner A, Wernig M, Plath K, et al. A bivalent chromatin structure marks key developmental genes in embryonic stem cells. Cell 2006; 125:315 - 26; http://dx.doi.org/10.1016/j.cell.2006.02.041; PMID: 16630819
   PubMed Web of Science ®Google Scholar
• Lee TI, Jenner RG, Boyer LA, Guenther MG, Levine SS, Kumar RM, Chevalier B, Johnstone SE, Cole MF, Isono K, et al. Control of developmental regulators by Polycomb in human embryonic stem cells. Cell 2006; 125:301 - 13; http://dx.doi.org/10.1016/j.cell.2006.02.043; PMID: 16630818
   PubMed Web of Science ®Google Scholar
• Morales Torres C, Laugesen A, Helin K. Utx is required for proper induction of ectoderm and mesoderm during differentiation of embryonic stem cells. PLoS One 2013; 8:e60020; http://dx.doi.org/10.1371/journal.pone.0060020; PMID: 23573229
   PubMed Web of Science ®Google Scholar
• Jiang W, Wang J, Zhang Y. Histone H3K27me3 demethylases KDM6A and KDM6B modulate definitive endoderm differentiation from human ESCs by regulating WNT signaling pathway. Cell Res 2013; 23:122 - 30; http://dx.doi.org/10.1038/cr.2012.119; PMID: 22907667
   PubMed Web of Science ®Google Scholar
• Copur Ö, Müller J. The histone H3-K27 demethylase Utx regulates HOX gene expression in Drosophila in a temporally restricted manner. Development 2013; 140:3478 - 85; http://dx.doi.org/10.1242/dev.097204; PMID: 23900545
   PubMed Web of Science ®Google Scholar
• Chaturvedi CP, Hosey AM, Palii C, Perez-Iratxeta C, Nakatani Y, Ranish JA, Dilworth FJ, Brand M. Dual role for the methyltransferase G9a in the maintenance of beta-globin gene transcription in adult erythroid cells. Proc Natl Acad Sci U S A 2009; 106:18303 - 8; http://dx.doi.org/10.1073/pnas.0906769106; PMID: 19822740
   PubMed Web of Science ®Google Scholar
• Liu J, Mercher T, Scholl C, Brumme K, Gilliland DG, Zhu N. A functional role for the histone demethylase UTX in normal and malignant hematopoietic cells. Exp Hematol 2012; 40:487 - 98, e3; http://dx.doi.org/10.1016/j.exphem.2012.01.017; PMID: 22306297
   PubMed Web of Science ®Google Scholar
• Caretti G, Di Padova M, Micales B, Lyons GE, Sartorelli V. The Polycomb Ezh2 methyltransferase regulates muscle gene expression and skeletal muscle differentiation. Genes Dev 2004; 18:2627 - 38; http://dx.doi.org/10.1101/gad.1241904; PMID: 15520282
   PubMed Web of Science ®Google Scholar
• Hemming S, Cakouros D, Isenmann S, Cooper L, Menicanin D, Zannettino A, Gronthos S. EZH2 and KDM6A act as an epigenetic switch to regulate mesenchymal stem cell lineage specification. Stem Cells 2014; 32:802 - 15; http://dx.doi.org/10.1002/stem.1573; PMID: 24123378
   PubMed Web of Science ®Google Scholar
• Shaw T, Martin P. Epigenetic reprogramming during wound healing: loss of polycomb-mediated silencing may enable upregulation of repair genes. EMBO Rep 2009; 10:881 - 6; http://dx.doi.org/10.1038/embor.2009.102; PMID: 19575012
   PubMed Web of Science ®Google Scholar
• Maures TJ, Greer EL, Hauswirth AG, Brunet A. The H3K27 demethylase UTX-1 regulates C. elegans lifespan in a germline-independent, insulin-dependent manner. Aging Cell 2011; 10:980 - 90; http://dx.doi.org/10.1111/j.1474-9726.2011.00738.x; PMID: 21834846
   PubMed Web of Science ®Google Scholar
• Jin C, Li J, Green CD, Yu X, Tang X, Han D, Xian B, Wang D, Huang X, Cao X, et al. Histone demethylase UTX-1 regulates C. elegans life span by targeting the insulin/IGF-1 signaling pathway. Cell Metab 2011; 14:161 - 72; http://dx.doi.org/10.1016/j.cmet.2011.07.001; PMID: 21803287
   PubMed Web of Science ®Google Scholar
• Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981; 99:565 - 9; http://dx.doi.org/10.1016/S0022-3476(81)80255-7; PMID: 7277096
   PubMed Web of Science ®Google Scholar
• Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988; 31:565 - 89; http://dx.doi.org/10.1002/ajmg.1320310312; PMID: 3067577
   PubMed Web of Science ®Google Scholar
• Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A 2013; 161:2234 - 43; http://dx.doi.org/10.1002/ajmg.a.36072; PMID: 23913813
   PubMed Web of Science ®Google Scholar
• Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42:790 - 3; http://dx.doi.org/10.1038/ng.646; PMID: 20711175
   PubMed Web of Science ®Google Scholar
• Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 2011; 155A:1511 - 6; http://dx.doi.org/10.1002/ajmg.a.34074; PMID: 21671394
   PubMed Web of Science ®Google Scholar
• Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet 2012; 90:119 - 24; http://dx.doi.org/10.1016/j.ajhg.2011.11.021; PMID: 22197486
   PubMed Web of Science ®Google Scholar
• Scherer S, Theile U, Beyer V, Ferrari R, Kreck C, Rister M. Patient with Kabuki syndrome and acute leukemia. Am J Med Genet A 2003; 122A:76 - 9; http://dx.doi.org/10.1002/ajmg.a.20261; PMID: 12949977
   PubMed Web of Science ®Google Scholar
• Tumino M, Licciardello M, Sorge G, Cutrupi MC, Di Benedetto F, Amoroso L, Catania R, Pennisi M, D’Amico S, Di Cataldo A. Kabuki syndrome and cancer in two patients. Am J Med Genet A 2010; 152A:1536 - 9; PMID: 20503331
   PubMed Web of Science ®Google Scholar
• Merks JH, Caron HN, Hennekam RC. High incidence of malformation syndromes in a series of 1,073 children with cancer. Am J Med Genet A 2005; 134A:132 - 43; http://dx.doi.org/10.1002/ajmg.a.30603; PMID: 15712196
   PubMed Web of Science ®Google Scholar
• Ijichi O, Kawakami K, Matsuda Y, Ikarimoto N, Miyata K, Takamatsu H, Tokunaga M. A case of Kabuki make-up syndrome with EBV+Burkitt’s lymphoma. Acta Paediatr Jpn 1996; 38:66 - 8; http://dx.doi.org/10.1111/j.1442-200X.1996.tb03439.x; PMID: 8992864
   PubMedGoogle Scholar
• Shahdadpuri R, O’Meara A, O’Sullivan M, Reardon W. Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome. Clin Dysmorphol 2008; 17:199 - 202; http://dx.doi.org/10.1097/MCD.0b013e3282f5f4e3; PMID: 18541969
   PubMed Web of Science ®Google Scholar
• De Keersmaecker K, Atak ZK, Li N, Vicente C, Patchett S, Girardi T, Gianfelici V, Geerdens E, Clappier E, Porcu M, et al. Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia. Nat Genet 2013; 45:186 - 90; http://dx.doi.org/10.1038/ng.2508; PMID: 23263491
   PubMed Web of Science ®Google Scholar
• Chapman MA, Lawrence MS, Keats JJ, Cibulskis K, Sougnez C, Schinzel AC, Harview CL, Brunet JP, Ahmann GJ, Adli M, et al. Initial genome sequencing and analysis of multiple myeloma. Nature 2011; 471:467 - 72; http://dx.doi.org/10.1038/nature09837; PMID: 21430775
   PubMed Web of Science ®Google Scholar
• Gui Y, Guo G, Huang Y, Hu X, Tang A, Gao S, Wu R, Chen C, Li X, Zhou L, et al. Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet 2011; 43:875 - 8; http://dx.doi.org/10.1038/ng.907; PMID: 21822268
   PubMed Web of Science ®Google Scholar
• Jones DT, Jäger N, Kool M, Zichner T, Hutter B, Sultan M, Cho YJ, Pugh TJ, Hovestadt V, Stütz AM, et al. Dissecting the genomic complexity underlying medulloblastoma. Nature 2012; 488:100 - 5; http://dx.doi.org/10.1038/nature11284; PMID: 22832583
   PubMed Web of Science ®Google Scholar
• Pugh TJ, Weeraratne SD, Archer TC, Pomeranz Krummel DA, Auclair D, Bochicchio J, Carneiro MO, Carter SL, Cibulskis K, Erlich RL, et al. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature 2012; 488:106 - 10; http://dx.doi.org/10.1038/nature11329; PMID: 22820256
   PubMed Web of Science ®Google Scholar
• Robinson G, Parker M, Kranenburg TA, Lu C, Chen X, Ding L, Phoenix TN, Hedlund E, Wei L, Zhu X, et al. Novel mutations target distinct subgroups of medulloblastoma. Nature 2012; 488:43 - 8; http://dx.doi.org/10.1038/nature11213; PMID: 22722829
   PubMed Web of Science ®Google Scholar
• Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A, Davies H, Edkins S, Hardy C, Latimer C, et al. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature 2010; 463:360 - 3; http://dx.doi.org/10.1038/nature08672; PMID: 20054297
   PubMed Web of Science ®Google Scholar
• Grasso CS, Wu YM, Robinson DR, Cao X, Dhanasekaran SM, Khan AP, Quist MJ, Jing X, Lonigro RJ, Brenner JC, et al. The mutational landscape of lethal castration-resistant prostate cancer. Nature 2012; 487:239 - 43; http://dx.doi.org/10.1038/nature11125; PMID: 22722839
   PubMed Web of Science ®Google Scholar
• Lindberg J, Mills IG, Klevebring D, Liu W, Neiman M, Xu J, Wikström P, Wiklund P, Wiklund F, Egevad L, et al. The mitochondrial and autosomal mutation landscapes of prostate cancer. Eur Urol 2013; 63:702 - 8; http://dx.doi.org/10.1016/j.eururo.2012.11.053; PMID: 23265383
   PubMed Web of Science ®Google Scholar
• Ho AS, Kannan K, Roy DM, Morris LG, Ganly I, Katabi N, Ramaswami D, Walsh LA, Eng S, Huse JT, et al. The mutational landscape of adenoid cystic carcinoma. Nat Genet 2013; 45:791 - 8; http://dx.doi.org/10.1038/ng.2643; PMID: 23685749
   PubMed Web of Science ®Google Scholar
• Kandoth C, McLellan MD, Vandin F, Ye K, Niu B, Lu C, Xie M, Zhang Q, McMichael JF, Wyczalkowski MA, et al. Mutational landscape and significance across 12 major cancer types. Nature 2013; 502:333 - 9; http://dx.doi.org/10.1038/nature12634; PMID: 24132290
   PubMed Web of Science ®Google Scholar
• Jankowska AM, Makishima H, Tiu RV, Szpurka H, Huang Y, Traina F, Visconte V, Sugimoto Y, Prince C, O’Keefe C, et al. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood 2011; 118:3932 - 41; http://dx.doi.org/10.1182/blood-2010-10-311019; PMID: 21828135
   PubMed Web of Science ®Google Scholar
• Fisher CL, Berger J, Randazzo F, Brock HW. A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11. Gene 2003; 306:115 - 26; http://dx.doi.org/10.1016/S0378-1119(03)00430-X; PMID: 12657473
   PubMed Web of Science ®Google Scholar
• Ito S, D’Alessio AC, Taranova OV, Hong K, Sowers LC, Zhang Y. Role of Tet proteins in 5mC to 5hmC conversion, ES-cell self-renewal and inner cell mass specification. Nature 2010; 466:1129 - 33; http://dx.doi.org/10.1038/nature09303; PMID: 20639862
   PubMed Web of Science ®Google Scholar
• Taylor MD, Northcott PA, Korshunov A, Remke M, Cho YJ, Clifford SC, Eberhart CG, Parsons DW, Rutkowski S, Gajjar A, et al. Molecular subgroups of medulloblastoma: the current consensus. Acta Neuropathol 2012; 123:465 - 72; http://dx.doi.org/10.1007/s00401-011-0922-z; PMID: 22134537
   PubMed Web of Science ®Google Scholar
• Dubuc AM, Remke M, Korshunov A, Northcott PA, Zhan SH, Mendez-Lago M, Kool M, Jones DT, Unterberger A, Morrissy AS, et al. Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma. Acta Neuropathol 2013; 125:373 - 84; http://dx.doi.org/10.1007/s00401-012-1070-9; PMID: 23184418
   PubMed Web of Science ®Google Scholar
• Mann KM, Ward JM, Yew CC, Kovochich A, Dawson DW, Black MA, Brett BT, Sheetz TE, Dupuy AJ, Chang DK, et al, Australian Pancreatic Cancer Genome Initiative. Sleeping Beauty mutagenesis reveals cooperating mutations and pathways in pancreatic adenocarcinoma. Proc Natl Acad Sci U S A 2012; 109:5934 - 41; http://dx.doi.org/10.1073/pnas.1202490109; PMID: 22421440
   PubMed Web of Science ®Google Scholar
• Kruidenier L, Chung CW, Cheng Z, Liddle J, Che K, Joberty G, Bantscheff M, Bountra C, Bridges A, Diallo H, et al. A selective jumonji H3K27 demethylase inhibitor modulates the proinflammatory macrophage response. Nature 2012; 488:404 - 8; http://dx.doi.org/10.1038/nature11262; PMID: 22842901
   PubMed Web of Science ®Google Scholar
• Kristensen JB, Nielsen AL, Jørgensen L, Kristensen LH, Helgstrand C, Juknaite L, Kristensen JL, Kastrup JS, Clausen RP, Olsen L, et al. Enzyme kinetic studies of histone demethylases KDM4C and KDM6A: towards understanding selectivity of inhibitors targeting oncogenic histone demethylases. FEBS Lett 2011; 585:1951 - 6; http://dx.doi.org/10.1016/j.febslet.2011.05.023; PMID: 21575637
   PubMed Web of Science ®Google Scholar
• Hamada S, Kim TD, Suzuki T, Itoh Y, Tsumoto H, Nakagawa H, Janknecht R, Miyata N. Synthesis and activity of N-oxalylglycine and its derivatives as Jumonji C-domain-containing histone lysine demethylase inhibitors. Bioorg Med Chem Lett 2009; 19:2852 - 5; http://dx.doi.org/10.1016/j.bmcl.2009.03.098; PMID: 19359167
   PubMed Web of Science ®Google Scholar
• Luo X, Liu Y, Kubicek S, Myllyharju J, Tumber A, Ng S, Che KH, Podoll J, Heightman TD, Oppermann U, et al. A selective inhibitor and probe of the cellular functions of Jumonji C domain-containing histone demethylases. J Am Chem Soc 2011; 133:9451 - 6; http://dx.doi.org/10.1021/ja201597b; PMID: 21585201
   PubMed Web of Science ®Google Scholar
• Wang L, Chang J, Varghese D, Dellinger M, Kumar S, Best AM, Ruiz J, Bruick R, Peña-Llopis S, Xu J, et al. A small molecule modulates Jumonji histone demethylase activity and selectively inhibits cancer growth. Nat Commun 2013; 4:2035; PMID: 23792809
   PubMed Web of Science ®Google Scholar
• Nielsen AL, Kristensen LH, Stephansen KB, Kristensen JB, Helgstrand C, Lees M, Cloos P, Helin K, Gajhede M, Olsen L. Identification of catechols as histone-lysine demethylase inhibitors. FEBS Lett 2012; 586:1190 - 4; http://dx.doi.org/10.1016/j.febslet.2012.03.001; PMID: 22575654
   PubMed Web of Science ®Google Scholar