Writing, erasing and reading histone lysine methylations
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Luger K, Hansen JC . Nucleosome and chromatin fiber dynamics. Curr Opin Struct Biol 2005; 15: 188–196.
Allis CD, Jenuwein T . The molecular hallmarks of epigenetic control. Nat Rev Genet 2016; 17: 487–500.
Wang GG, Allis CD . Misinterpretation″ of a histone mark is linked to aberrant stem cells and cancer development. Cell Cycle 2009; 8: 1982–1983.
Chi P, Allis CD, Wang GG . Covalent histone modifications—miswritten, misinterpreted and mis-erased in human cancers. Nat Rev Cancer 2010; 10: 457–469.
Allfrey VG, Mirsky AE . Structural modifications of histones and their possible role in the regulation of RNA synthesis. Science 1964; 144: 559.
Rea S, Eisenhaber F, O'Carroll D, Strahl BD, Sun ZW, Schmid M et al. Regulation of chromatin structure by site specific histone H3 methyltransferases. Nature 2000; 406: 593–599.
Dillon SC, Zhang X, Trievel RC, Cheng X . The SET-domain protein superfamily: protein lysine methyltransferases. Genome Biol 2005; 6: 227.
Shi Y, Lan F, Matson C, Mulligan P, Whetstine JR, Cole PA et al. Histone demethylation mediated by the nuclear amine oxidase homolog LSD1. Cell 2004; 119: 941–953.
Tsukada Y, Fang J, Erdjument-Bromage H, Warren ME, Borchers CH, Tempst P et al. Histone demethylation by a family of JmjC domain-containing proteins. Nature 2006; 439: 811–816.
Martin C, Zhang Y . The diverse functions of histone lysine methylation. Nat Rev Mol Cell Biol 2005; 6: 838–849.
Musselman CA, Khorasanizadeh S, Kutateladze TG . Towards understanding methyllysine readout. Biochim Biophys Acta 2014; 1839: 686–693.
Black JC, Van Rechem C, Whetstine JR . Histone lysine methylation dynamics: establishment, regulation, and biological impact. Mol Cell 2012; 48: 491–507.
Chandrasekharan MB, Huang F, Sun ZW . Histone H2B ubiquitination and beyond: regulation of nucleosome stability, chromatin dynamics and the trans-histone H3 methylation. Epigenetics 2010; 5: 460–468.
Vastenhouw NL, Schier AF . Bivalent histone modifications in early embryogenesis. Curr Opin Cell Biol 2012; 24: 374–386.
Greer EL, Shi Y . Histone methylation: a dynamic mark in health, disease and inheritance. Nat Rev Genet 2012; 13: 343–357.
Song Y, Wu F, Wu J . Targeting histone methylation for cancer therapy: enzymes, inhibitors, biological activity and perspectives. J. Hematol Oncol 2016; 9: 49.
Wang Y, Han Y, Fan E, Zhang K . Analytical strategies used to identify the readers of histone modifications: a review. Anal Chim Acta 2015; 891: 32–42.
Shilatifard A . The COMPASS family of histone H3K4 methylases: mechanisms of regulation in development and disease pathogenesis. Annu Rev Biochem 2012; 81: 65–95.
Briggs SD, Bryk M, Strahl BD, Cheung WL, Davie JK, Dent SY et al. Histone H3 lysine 4 methylation is mediated by Set1 and required for cell growth and rDNA silencing in Saccharomyces cerevisiae. Genes Dev 2001; 15: 3286–3295.
Miller T, Krogan NJ, Dover J, Erdjument-Bromage H, Tempst P, Johnston M et al. COMPASS: a complex of proteins associated with a trithorax-related SET domain protein. Proc Natl Acad Sci USA 2001; 98: 12902–12907.
Roguev A, Schaft D, Shevchenko A, Pijnappel WW, Wilm M, Aasland R et al. The Saccharomyces cerevisiae Set1 complex includes an Ash2 homologue and methylates histone 3 lysine 4. EMBO J 2001; 20: 7137–7148.
Patel A, Dharmarajan V, Vought VE, Cosgrove MS . On the mechanism of multiple lysine methylation by the human mixed lineage leukemia protein-1 (MLL1) core complex. J Biol Chem 2009; 284: 24242–24256.
Patel A, Vought VE, Dharmarajan V, Cosgrove MS . A conserved arginine-containing motif crucial for the assembly and enzymatic activity of the mixed lineage leukemia protein-1 core complex. J Biol Chem 2008; 283: 32162–32175.
Shinsky SA, Hu M, Vought VE, Ng SB, Bamshad MJ, Shendure J et al. A non-active-site SET domain surface crucial for the interaction of MLL1 and the RbBP5/Ash2L heterodimer within MLL family core complexes. J Mol Biol 2014; 426: 2283–2299.
Shinsky SA, Monteith KE, Viggiano S, Cosgrove MS . Biochemical reconstitution and phylogenetic comparison of human SET1 family core complexes involved in histone methylation. J Biol Chem 2015; 290: 6361–6375.
Lee JH, Skalnik DG . Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes. Mol Cell Biol 2008; 28: 609–618.
Lee JH, Skalnik DG . CpG-binding protein (CXXC finger protein 1) is a component of the mammalian Set1 histone H3-Lys4 methyltransferase complex, the analogue of the yeast Set1/COMPASS complex. J Biol Chem 2005; 280: 41725–41731.
Xu C, Bian C, Lam R, Dong A, Min J . The structural basis for selective binding of non-methylated CpG islands by the CFP1 CXXC domain. Nat Commun 2011; 2: 227.
Clouaire T, Webb S, Skene P, Illingworth R, Kerr A, Andrews R et al. Cfp1 integrates both CpG content and gene activity for accurate H3K4me3 deposition in embryonic stem cells. Genes Dev 2012; 26: 1714–1728.
Agarwal SK, Jothi R . Genome-wide characterization of menin-dependent H3K4me3 reveals a specific role for menin in the regulation of genes implicated in MEN1-like tumors. PLoS ONE 2012; 7: e37952.
Lefevre GM, Patel SR, Kim D, Tessarollo L, Dressler GR . Altering a histone H3K4 methylation pathway in glomerular podocytes promotes a chronic disease phenotype. PLoS Genet 2010; 6: e1001142.
Takahashi YH, Westfield GH, Oleskie AN, Trievel RC, Shilatifard A, Skiniotis G . Structural analysis of the core COMPASS family of histone H3K4 methylases from yeast to human. Proc Natl Acad Sci USA 2011; 108: 20526–20531.
Li Y, Han J, Zhang Y, Cao F, Liu Z, Li S et al. Structural basis for activity regulation of MLL family methyltransferases. Nature 2016; 530: 447–452.
Sun ZW, Allis CD . Ubiquitination of histone H2B regulates H3 methylation and gene silencing in yeast. Nature 2002; 418: 104–108.
Dover J, Schneider J, Tawiah-Boateng MA, Wood A, Dean K, Johnston M et al. Methylation of histone H3 by COMPASS requires ubiquitination of histone H2B by Rad6. J Biol Chem 2002; 277: 28368–28371.
Dehé PM, Pamblanco M, Luciano P, Lebrun R, Moinier D, Sendra R et al. Histone H3 lysine 4 mono-methylation does not require ubiquitination of histone H2B. J Mol Biol 2005; 353: 477–484.
Shahbazian MD, Zhang K, Grunstein M . Histone H2B ubiquitylation controls processive methylation but not monomethylation by Dot1 and Set1. Mol Cell 2005; 19: 271–277.
Lee JS, Shukla A, Schneider J, Swanson SK, Washburn MP, Florens L et al. Histone crosstalk between H2B monoubiquitination and H3 methylation mediated by COMPASS. Cell 2007; 131: 1084–1096.
Vitaliano-Prunier A, Menant A, Hobeika M, Géli V, Gwizdek C, Dargemont C . Ubiquitylation of the COMPASS component Swd2 links H2B ubiquitylation to H3K4 trimethylation. Nat Cell Biol 2008; 10: 1365–1371.
Kim J, Kim JA, McGinty RK, Nguyen UT, Muir TW, Allis CD et al. The n-SET domain of Set1 regulates H2B ubiquitylation-dependent H3K4 methylation. Mol Cell 2013; 49: 1121–1133.
Kim J, Hake SB, Roeder RG . The human homolog of yeast BRE1 functions as a transcriptional coactivator through direct activator interactions. Mol Cell 2005; 20: 759–770.
Zhu B, Zheng Y, Pham AD, Mandal SS, Erdjument-Bromage H, Tempst P et al. Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation. Mol Cell 2005; 20: 601–611.
Kim J, Guermah M, McGinty RK, Lee JS, Tang Z, Milne TA et al. RAD6-mediated transcription-coupled H2B ubiquitylation directly stimulates H3K4 methylation in human cells. Cell 2009; 137: 459–471.
Ciccone DN, Su H, Hevi S, Gay F, Lei H, Bajko J et al. KDM1B is a histone H3K4 demethylase required to establish maternal genomic imprints. Nature 2009; 461: 415–418.
Lee MG, Wynder C, Cooch N, Shiekhattar R . An essential role for CoREST in nucleosomal histone 3 lysine 4 demethylation. Nature 2005; 437: 432–435.
Lan F, Collins RE, De Cegli R, Alpatov R, Horton JR, Shi X et al. Recognition of unmethylated histone H3 lysine 4 links BHC80 to LSD1-mediated gene repression. Nature 2007; 448: 718–722.
Lin Y, Wu Y, Li J, Dong C, Ye X, Chi YI et al. The SNAG domain of Snail1 functions as a molecular hook for recruiting lysine-specific demethylase 1. EMBO J 2010; 29: 1803–1816.
Højfeldt JW, Agger K, Helin K . Histone lysine demethylases as targets for anticancer therapy. Nat Rev Drug Discov 2013; 12: 917–930.
Sinha KM, Yasuda H, Coombes MM, Dent SY, de Crombrugghe B . de Regulation of the osteoblast-specific transcription factor Osterix by NO66, a Jumonji family histone demethylase. EMBO J 2010; 29: 68–79.
Christensen J, Agger K, Cloos PA, Pasini D, Rose S, Sennels L et al. RBP2 belongs to a family of demethylases, specific for tri-and dimethylated lysine 4 on histone 3. Cell 2007; 128: 1063–1076.
Yamane K, Tateishi K, Klose RJ, Fang J, Fabrizio LA, Erdjument-Bromage H et al. PLU-1 is an H3K4 demethylase involved in transcriptional repression and breast cancer cell proliferation. Mol Cell 2007; 25: 801–812.
Tahiliani M, Mei P, Fang R, Leonor T, Rutenberg M, Shimizu F et al. The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. Nature 2007; 447: 601–605.
Lee MG, Villa R, Trojer P, Norman J, Yan KP, Reinberg D et al. Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination. Science 2007; 318: 447–450.
Iwase S, Lan F, Bayliss P, de la Torre-Ubieta L, Huarte M, Qi HH et al. The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. Cell 2007; 128: 1077–1088.
Klose RJ, Yan Q, Tothova Z, Yamane K, Erdjument-Bromage H, Tempst P et al. The retinoblastoma binding protein RBP2 is an H3K4 demethylase. Cell 2007; 128: 889–900.
Heintzman ND, Stuart RK, Hon G, Fu Y, Ching CW, Hawkins RD . Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome. Nat Genet 2007; 39: 311–318.
Kim T, Buratowski S . Dimethylation of H3K4 by Set1 recruits the Set3 histone deacetylase complex to 5′ transcribed regions. Cell 2009; 137: 259–272.
Santos-Rosa H, Schneider R, Bannister AJ, Sherriff J, Bernstein BE, Emre NC . Active genes are tri-methylated at K4 of histone H3. Nature 2002; 419: 407–411.
Mikkelsen TS, Ku M, Jaffe DB, Issac B, Lieberman E, Giannoukos G et al. Genome-wide maps of chromatin state in pluripotent and lineagecommitted cells. Nature 2007; 448: 553–560.
Narayanan A, Ruyechan WT, Kristie TM . The coactivator host cell factor-1 mediates Set1 and MLL1 H3K4 trimethylation at herpesvirus immediate early promoters for initiation of infection. Proc Natl Acad Sci USA 2007; 104: 10835–10840.
Yokoyama A, Wang Z, Wysocka J, Sanyal M, Aufiero DJ, Kitabayashi I et al. Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression. Mol Cell Biol 2004; 24: 5639–5649.
Song ZT, Sun L, Lu SJ, Tian Y, Ding Y, Liu JX . Transcription factor interaction with COMPASS-like complex regulates histone H3K4 trimethylation for specific gene expression in plants. Proc Natl Acad Sci USA 2015; 112: 2900–2905.
Tang Z, Chen WY, Shimada M, Nguyen UT, Kim J, Sun XJ et al. SET1 and p300 act synergistically, through coupled histone modifications, in transcriptional activation by p53. Cell 2013; 154: 297–310.
Ng HH, Robert F, Young RA, Struhl K . Targeted recruitment of Set1 histone methylase by elongating Pol II provides a localized mark and memory of recent transcriptional activity. Mol Cell 2003; 11: 709–719.
Sims RJ III, Chen CF, Santos-Rosa H, Kouzarides T, Patel SS, Reinberg D . Human but not yeast CHD1 binds directly and selectively to histone H3 methylated at lysine 4 via its tandem chromodomains. J Biol Chem 2005; 280: 41789–41792.
Wysocka J, Swigut T, Xiao H, Milne TA, Kwon SY, Landry J et al. A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. Nature 2006; 442: 86–90.
Vermeulen M, Mulder KW, Denissov S, Pijnappel WW, van Schaik FM, Varier RA et al. Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4. Cell 2007; 131: 58–69.
Lauberth SM, Nakayama T, Wu X, Ferris AL, Tang Z, Hughes SH et al. H3K4me3 interactions with TAF3 regulate preinitiation complex assembly and selective gene activation. Cell 2013; 152: 1021–1036.
Bian C, Xu C, Ruan J, Lee KK, Burke TL, Tempel W et al. Sgf29 binds histone H3K4me2/3 and is required for SAGA complex recruitment and histone H3 acetylation. EMBO J 2011; 30: 2829–2842.
Taverna SD, Ilin S, Rogers RS, Tanny JC, Lavender H, Li H et al. Yng1 PHD finger binding to H3 trimethylated at K4 promotes NuA3 HAT activity at K14 of H3 and transcription at a subset of targeted ORFs. Mol Cell 2006; 24: 785–796.
Hung T, Binda O, Champagne KS, Kuo AJ, Johnson K, Chang HY et al. ING4 mediates crosstalk between histone H3K4 trimethylation and H3 acetylation to attenuate cellular transformation. Mol Cell 2009; 33: 248–256.
Eberl HC, Spruijt CG, Kelstrup CD, Vermeulen M, Mann M . A map of general and specialized chromatin readers in mouse tissues generated by label-free interaction proteomics. Mol Cell 2013; 49: 368–378.
Clouaire T, Webb S, Bird A . Cfp1 is required for gene expression-dependent H3K4 trimethylation and H3K9 acetylation in embryonic stem cells. Genome Biol 2014; 15: 451.
Wang Z, Song J, Milne TA, Wang GG, Li H, Allis CD et al. Pro isomerization in MLL1 PHD3-bromo cassette connects H3K4me readout to CyP33 and HDAC-mediated repression. Cell 2010; 141: 1183–1194.
Ali M, Hom RA, Blakeslee W, Ikenouye L, Kutateladze TG . Diverse functions of PHD fingers of the MLL/KMT2 subfamily. Biochim Biophys Acta 2014; 1843: 366–371.
Rao RC, Dou Y . Hijacked in cancer: the KMT2 (MLL) family of methyltransferases. Nat Rev Cancer 2015; 15: 334–346.
Tenney K, Shilatifard A . A COMPASS in the voyage of defining the role of trithorax/MLL-containing complexes: linking leukemogensis to covalent modifications of chromatin. J Cell Biochem 2005; 95: 429–436.
Thiel AT, Blessington P, Zou T, Feather D, Wu X, Yan J et al. MLL-AF9-induced leukemogenesis requires coexpression of the wild-type Mll allele. Cancer Cell 2010; 17: 148–159.
Karatas H, Townsend EC, Cao F, Chen Y, Bernard D, Liu L et al. High-affinity, small-molecule peptidomimetic inhibitors of MLL1/WDR5 protein–protein interaction. J Am Chem Soc 2013; 135: 669–682.
Cao F, Townsend EC, Karatas H, Xu J, Li L, Lee S et al. Targeting MLL1 H3K4 methyltransferase activity in mixed-lineage leukemia. Mol Cell 2014; 53: 247–261.
de Rooij JD, Hollink IH, Arentsen-Peters ST, van Galen JF, Berna Beverloo H, Baruchel A et al. NUP98/JARID1A is a novel recurrent abnormality in pediatric acute megakaryoblastic leukemia with a distinct HOX gene expression pattern. Leukemia 2013; 27: 2280–2288.
Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet 2005; 76: 227–236.
Liu K, Liu Y, Lau JL, Min J . Epigenetic targets and drug discovery. Part 2: histone demethylation and DNA methylation. Pharmacol Ther 2015; 151: 121–140.
Barski A, Cuddapah S, Cui K, Roh TY, Schones DE, Wang Z et al. High-resolution profiling of histone methylations in the human genome. Cell 2007; 129: 823–837.
Hu D, Garruss AS, Gao X, Morgan MA, Cook M, Smith ER et al. The Mll2 branch of the COMPASS family regulates bivalent promoters in mouse embryonic stem cells. Nat Struct Mol Biol 2013; 20: 1093–1097.
Denissov S, Hofemeister H, Marks H, Kranz A, Ciotta G, Singh S et al. Mll2 is required for H3K4 trimethylation on bivalent promoters in embryonic stem cells, whereas Mll1 is redundant. Development 2014; 141: 526–537.
Bracken AP, Dietrich N, Pasini D, Hansen KH, Helin K . Genomewide mapping of Polycomb target genes unravels their roles in cell fate transitions. Genes Dev 2006; 20: 1123–1136.
Ang YS, Tsai SY, Lee DF, Monk J, Su J, Ratnakumar K et al. Wdr5 mediates self-renewal and reprogramming via the embryonic stem cell core transcriptional network. Cell 2011; 145: 183–197.
Wan M, Liang J, Xiong Y, Shi F, Zhang Y, Lu W et al. The trithorax group protein Ash2l is essential for pluripotency and maintaining open chromatin in embryonic stem cells. J Biol Chem 2013; 288: 5039–5048.
Jiang H, Shukla A, Wang X, Chen WY, Bernstein BE, Roeder RG . Role for Dpy-30 in ES cell-fate specification by regulation of H3K4 methylation within bivalent domains. Cell 2011; 144: 513–525.
Nakayama J, Rice JC, Strahl BD, Allis CD, Grewal SI . Role of histone H3 lysine 9 methylation in epigenetic control of heterochromatin assembly. Science 2001; 292: 110–113.
Ekwall K, Nimmo ER, Javerzat JP, Borgstrom B, Egel R, Cranston G et al. Mutations in the fission yeast silencing factors clr4+ and rik1+ disrupt the localisation of the chromo domain protein Swi6p and impair centromere function. J Cell Sci 1996; 10: 2637–2648.
Jia S, Yamada T, Grewal SI . Heterochromatin regulates cell type-specific long-range chromatin interactions essential for directed recombination. Cell 2004; 119: 469–480.
Brower-Toland B, Riddle NC, Jiang H, Huisinga KL, Elgin SC . Multiple SET methyltransferases are required to maintain normal heterochromatin domains in the genome of Drosophila melanogaster. Genetics 2009; 181: 1303–1319.
Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T . Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins. Nature 2001; 410: 116–120.
Collins RE, Tachibana M, Tamaru H, Smith KM, Jia D, Zhang X et al. In vitro and in vivo analyses of a Phe/Tyr switch controlling product specificity of histone lysine methyltransferases. J Biol Chem 2005; 280: 5563–5570.
Rice JC, Briggs SD, Ueberheide B, Barber CM, Shabanowitz J, Hunt DF et al. Histone methyltransferases direct different degrees of methylation to define distinct chromatin domains. Mol Cell 2003; 12: 1591–1598.
Loyola A, Tagami H, Bonaldi T, Roche D, Quivy JP, Imhof A et al. The HP1alpha-CAF1-SetDB1-containing complex provides H3K9me1 for Suv39-mediated K9me3 in pericentric heterochromatin. EMBO Rep 2009; 10: 769–775.
Tachibana M, Sugimoto K, Nozaki M, Ueda J, Ohta T, Ohki M et al. G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis. Genes Dev 2002; 16: 1779–1791.
Kubicek S, O'Sullivan RJ, August EM, Hickey ER, Zhang Q, Teodoro ML et al. Reversal of H3K9me2 by a small-molecule inhibitor for the G9a histone methyltransferase. Mol Cell 2007; 25: 473–481.
Ueda J, Tachibana M, Ikura T, Shinkai Y . Zinc finger protein Wiz links G9a/GLP histone methyltransferases to the co-repressor molecule CtBP. J Biol Chem 2006; 281: 20120–20128.
Tachibana M, Ueda J, Fukuda M, Takeda N, Ohta T, Iwanari H et al. Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9. Genes Dev 2005; 19: 815–826.
Fumasoni I, Meani N, Rambaldi D, Scafetta G, Alcalay M, Ciccarelli FD . Family expansion and gene rearrangements contributed to the functional specialization of PRDM genes in vertebrates. BMC Evol Biol 2007; 7: 187.
Hohenauer T, Moore AW . The Prdm family: expanding roles in stem cells and development. Development 2012; 139: 2267–2282.
Yamane K, Toumazou C, Tsukada Y, Erdjument-Bromage H, Tempst P, Wong J et al. JHDM2A, a JmjC-containing H3K9 demethylase, facilitates transcription activation by androgen receptor. Cell 2006; 125: 483–495.
Okada Y, Scott G, Ray MK, Mishina Y, Zhang Y . Histone demethylase JHDM2A is critical for Tnp1 and Prm1 transcription and spermatogenesis. Nature 2007; 450: 119–123.
Cloos PA, Christensen J, Agger K, Maiolica A, Rappsilber J, Antal T et al. The putative oncogene GASC1 demethylates tri- and dimethylated lysine 9 on histone H3. Nature 2006; 442: 307–311.
Loenarz C, Ge W, Coleman ML, Rose NR, Cooper CD, Klose RJ et al. PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase. Hum Mol Genet 2010; 19: 217–222.
Klose RJ, Yamane K, Bae Y, Zhang D, Erdjument-Bromage H, Tempst P et al. The transcriptional repressor JHDM3A demethylates trimethyl histone H3 lysine 9 and lysine 36. Nature 2006; 442: 312–316.
Horton JR, Upadhyay AK, Qi HH, Zhang X, Shi Y, Cheng X . Enzymatic and structural insights for substrate specificity of a family of jumonji histone lysine demethylases. Nat Struct Mol Biol 2010; 17: 38–43.
Fuks F, Hurd PJ, Deplus R, Kouzarides T . The DNA methyltransferases associate with HP1 and the SUV39H1 histone methyltransferase. Nucleic Acids Res 2003; 31: 2305–2312.
Lehnertz B, Ueda Y, Derijck AA, Braunschweig U, Perez-Burgos L, Kubicek S et al. Suv39h-mediated histone H3 lysine 9 methylation directs DNA methylation to major satellite repeats at pericentric heterochromatin. Curr Biol 2003; 13: 1192–1200.
Feldman N, Gerson A, Fang J, Li E, Zhang Y, Shinkai Y et al. G9a-mediated irreversible epigenetic inactivation of Oct-3/4 during early embryogenesis. Nat Cell Biol 2006; 8: 188–194.
Epsztejn-Litman S, Feldman N, Abu-Remaileh M, Shufaro Y, Gerson A, Ueda J et al. De novo DNA methylation promoted by G9a prevents reprogramming of embryonically silenced genes. Nat Struct Mol Biol 2008; 15: 1176–1183.
Rothbart SB, Krajewski K, Nady N, Tempel W, Xue S, Badeaux AI et al. Association of UHRF1 with methylated H3K9 directs the maintenance of DNA methylation. Nat Struct Mol Biol 2012; 19: 1155–1160.
Babbio F, Pistore C, Curti L, Castiglioni I, Kunderfranco P, Brino L et al. The SRA protein UHRF1 promotes epigenetic crosstalks and is involved in prostate cancer progression. Oncogene 2012; 31: 4878–4887.
Sarraf SA, Stancheva I . Methyl-CpG binding protein MBD1 couples histone H3 methylation at lysine 9 by SETDB1 to DNA replication and chromatin assembly. Mol Cell 2004; 15: 595–605.
Dodge JE, Kang YK, Beppu H, Lei H, Li E . Histone H3-K9 methyltransferase ESET is essential for early development. Mol Cell Biol 2004; 24: 2478–2486.
Bannister AJ, Zegerman P, Partridge JF, Miska EA, Thomas JO, Allshire RC et al. Selective recognition of methylated lysine 9 on histone H3 by the HP1 chromo domain. Nature 2001; 410: 120–124.
Wang T, Xu C, Liu Y, Fan K, Li Z, Sun X et al. Crystal structure of the human SUV39H1 chromodomain and its recognition of histone H3K9me2/3. PLoS ONE 2012; 7: e52977.
Hall IM, Shankaranarayana GD, Noma K, Ayoub N, Cohen A, Grewal SI . Establishment and maintenance of a heterochromatin domain. Science 2002; 297: 2232–2237.
Lechner MS, Schultz DC, Negorev D, Maul GG, Rauscher FJ . The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. Biochem Biophys Res Commun 2005; 331: 929–937.
Yamada T, Fischle W, Sugiyama T, Allis CD, Grewal SI . The nucleation and maintenance of heterochromatin by a histone deacetylase in fission yeast. Mol Cell 2005; 20: 173–185.
Penke TJ, McKay DJ, Strahl BD, Matera AG, Duronio RJ . Direct interrogation of the role of H3K9 in metazoan heterochromatin function. Genes Dev 2016; 30: 1866–1880.
Grewal SI . RNAi-dependent formation of heterochromatin and its diverse functions. Curr Opin Genet Dev 2010; 20: 134–141.
Tamaru H . Confining euchromatin/heterochromatin territory: jumonji crosses the line. Genes Dev 2010; 24: 1465–1478.
Ogawa H, Ishiguro K, Gaubatz S, Livingston DM, Nakatani Y . A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells. Science 2002; 296: 1132–1136.
Duan Z, Zarebski A, Montoya-Durango D, Grimes HL, Horwitz M . Gfi1 coordinates epigenetic repression of p21Cip/WAF1 by recruitment of histone lysine methyltransferase G9a and histone deacetylase 1. Mol Cell Biol 2005; 25: 10338–10351.
Nishida M, Kato M, Kato Y, Sasai N, Ueda J, Tachibana M et al. Identification of ZNF200 as a novel binding partner of histone H3 methyltransferase G9a. Genes Cells 2007; 12: 877–888.
Gupta-Agarwal S, Franklin AV, Deramus T, Wheelock M, Davis RL, McMahon LL et al. G9a/GLP histone lysine dimethyltransferase complex activity in the hippocampus and the entorhinal cortex is required for gene activation and silencing during memory consolidation. J Neurosci 2012; 32: 5440–5453.
Antignano F, Burrows K, Hughes MR, Han JM, Kron KJ, Penrod NM et al. Methyltransferase G9A regulates T cell differentiation during murine intestinal inflammation. J Clin Invest 2014; 124: 1945–1955.
Liu N, Zhang Z, Wu H, Jiang Y, Meng L, Xiong J et al. Recognition of H3K9 methylation by GLP is required for efficient establishment of H3K9 methylation, rapid target gene repression, and mouse viability. Genes Dev 2015; 29: 379–393.
Schaefer A, Sampath SC, Intrator A, Min A, Gertler TS, Surmeier DJ et al. Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex. Neuron 2009; 64: 678–691.
Wang L, Xu S, Lee JE, Baldridge A, Grullon S, Peng W et al. Histone H3K9 methyltransferase G9a represses PPARgamma expression and adipogenesis. EMBO J 2013; 32: 45–59.
Vakoc CR, Mandat SA, Olenchock BA, Blobel GA . Histone H3 lysine 9 methylation and HP1gamma are associated with transcription elongation through mammalian chromatin. Mol Cell 2005; 19: 381–391.
Kwon SH, Florens L, Swanson SK, Washburn MP, Abmayr SM, Workman JL . Heterochromatin protein 1 (HP1) connects the FACT histone chaperone complex to the phosphorylated CTD of RNA polymerase II. Genes Dev 2010; 24: 2133–2145.
Luco RF, Pan Q, Tominaga K, Blencowe BJ, Pereira-Smith OM, Misteli T . Regulation of alternative splicing by histone modifications. Science 2010; 327: 996–1000.
Tilgner H, Knowles DG, Johnson R, Davis CA, Chakrabortty S, Djebali S et al. Deep sequencing of subcellular RNA fractions shows splicing to be predominantly co-transcriptional in the human genome but inefficient for lncRNAs. Genome Res 2012; 22: 1616–1625.
Bieberstein NI, Kozakova E, Huranova M, Thakur PK, Krchnakova Z, Krausova M et al. TALE-directed local modulation of H3K9 methylation shapes exon recognition. Sci Rep 2016; 6: 29961.
Salton M, Voss TC, Misteli T . Identification by high-throughput imaging of the histone methyltransferase EHMT2 as an epigenetic regulator of VEGFA alternative splicing. Nucleic Acids Res 2014; 42: 13662–13673.
Saint-Andre V, Batsche E, Rachez C, Muchardt C . Histone H3 lysine 9 trimethylation and HP1gamma favor inclusion of alternative exons. Nat Struct Mol Biol 2011; 18: 337–344.
Kwak H, Fuda NJ, Core LJ, Lis JT . Precise maps of RNA polymerase reveal how promoters direct initiation and pausing. Science 2013; 339: 950–953.
Casciello F, Windloch K, Gannon F, Lee JS . Functional role of G9a histone methyltransferase in cancer. Front Immunol 2015; 6: 487.
Kramer JM . Regulation of cell differentiation and function by the euchromatin histone methyltranserfases G9a and GLP. Biochem Cell Biol 2016; 94: 26–32.
Walker MP, LaFerla FM, Oddo SS, Brewer GJ . Reversible epigenetic histone modifications and Bdnf expression in neurons with aging and from a mouse model of Alzheimer's disease. Age (Dordr) 2013; 35: 519–531.
Ryu H, Lee J, Hagerty SW, Soh BY, McAlpin SE, Cormier KA et al. ESET/SETDB1 gene expression and histone H3 (K9) trimethylation in Huntington's disease. Proc Natl Acad Sci USA 2006; 103: 19176–19181.
Wozniak RJ, Klimecki WT, Lau SS, Feinstein Y, Futscher BW . 5-Aza-2'-deoxycytidine-mediated reductions in G9A histone methyltransferase and histone H3 K9 di-methylation levels are linked to tumor suppressor gene reactivation. Oncogene 2007; 26: 77–90.
Gao J, Aksoy BA, Dogrusoz U, Dresdner G, Gross B, Sumer SO et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal 2013; 6: pl1.
Hua KT, Wang MY, Chen MW, Wei LH, Chen CK, Ko CH et al. The H3K9 methyltransferase G9a is a marker of aggressive ovarian cancer that promotes peritoneal metastasis. Mol Cancer 2014; 13: 189.
Mechanic S, Raynor K, Hill JE, Cowin P . Desmocollins form a distinct subset of the cadherin family of cell adhesion molecules. Proc Natl Acad Sci USA 1991; 88: 4476–4480.
Cao R, Wang L, Wang H, Xia L, Erdjument-Bromage H, Tempst P et al. Role of histone H3 lysine 27 methylation in polycomb-group silencing. Science 2002; 298: 1039–1043.
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: 185–196.
Müller J, Hart CM, Francis NJ, Vargas ML, Sengupta A, Wild B et al. Histone methyltransferase activity of a Drosophila polycomb group repressor complex. Cell 2002; 111: 197–208.
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: 2893–2905.
Margueron R, Reinberg D . The polycomb complex PRC2 and its mark in life. Nature 2011; 469: 343–349.
Alekseyenko AA, Gorchakov AA, Kharchenko PV, Kuroda MI . Reciprocal interactions of human C10orf12 and C17orf96 with PRC2 revealed by BioTAP-XL cross-linking and affinity purification. Proc Natl Acad Sci USA 2014; 111: 2488–2493.
Pasini D, Bracken AP, Jensen MR, Lazzerini Denchi E, Helin K . Suz12 is essential for mouse development and for EZH2 histone methyltransferase activity. EMBO J 2004; 23: 4061–4071.
Nekrasov M, Wild B, Müller J . Nucleosome binding and histone methyltransferase activity of Drosophila PRC2. EMBO Rep 2005; 6: 348–353.
Margueron R, Justin N, Ohno K, Sharpe ML, Son J, Drury WJ III et al. Role of the polycomb protein EED in the propagation of repressive histone marks. Nature 2009; 461: 762–767.
Hansen KH, Bracken AP, Pasini D, Dietrich N, Gehani SS, Monrad A et al. A model for transmission of the H3K27me3 epigenetic mark. Nat Cell Biol 2008; 10: 1291–1300.
Yuan W, Wu T, Fu H, Dai C, Wu H, Liu N et al. Dense chromatin activates Polycomb repressive complex 2 to regulate H3 lysine 27 methylation. Science 2012; 337: 971–975.
Agger K, Cloos PA, Christensen J, Pasini D, Rose S, Rappsilber J et al. UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development. Nature 2007; 449: 731–734.
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: 1083–1094.
Walport LJ, Hopkinson RJ, Vollmar M, Madden SK, Gileadi C, Oppermann U et al. Human UTY(KDM6C) is a male-specific Nε-methyl lysyl demethylase. J Biol Chem 2014; 289: 18302–18313.
Issaeva I, Zonis Y, Rozovskaia T, Orlovsky K, Croce CM, Nakamura T et al. Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth. Mol Cell Biol 2007; 27: 1889–1903.
Kim JH, Sharma A, Dhar SS, Lee SH, Gu B, Chan CH et al. UTX and MLL4 coordinately regulate transcriptional programs for cell proliferation and invasiveness in breast cancer cells. Cancer Res 2014; 74: 1705–1717.
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: 122–130.
De Santa F, Narang V, Yap ZH, Tusi BK, Burgold T, Austenaa L et al. Jmjd3 contributes to the control of gene expression in LPS-activated macrophages. EMBO J 2009; 28: 3341–3352.
Silva J, Mak W, Zvetkova I, Appanah R, Nesterova TB, Webster Z et al. Establishment of histone h3 methylation on the inactive X chromosome requires transient recruitment of Eed-Enx1 polycomb group complexes. Dev Cell 2003; 4: 481–495.
Kleer CG, Cao Q, Varambally S, Shen R, Ota I, Tomlins SA et al. EZH2 is a marker of aggressive breast cancer and promotes neoplastic transformation of breast epithelial cells. Proc Natl Acad Sci USA 2003; 100: 11606–11611.
Varambally S, Dhanasekaran SM, Zhou M, Barrette TR, Kumar-Sinha C, Sanda MG et al. The polycomb group protein EZH2 is involved in progression of prostate cancer. Nature 2002; 419: 624–629.
Bracken AP, Pasini D, Capra M, Prosperini E, Colli E, Helin K . EZH2 is downstream of the pRB-E2F pathway, essential for proliferation and amplified in cancer. EMBO J 2003; 22: 5323–5335.
Velichutina I, Shaknovich R, Geng H, Johnson NA, Gascoyne RD, Melnick AM et al. EZH2-mediated epigenetic silencing in germinal center B cells contributes to proliferation and lymphomagenesis. Blood 2010; 116: 5247–5255.
Yap DB, Chu J, Berg T, Schapira M, Cheng SW, Moradian A et al. Somatic mutations at EZH2 Y641 act dominantly through a mechanism of selectively altered PRC2 catalytic activity, to increase H3K27 trimethylation. Blood 2011; 117: 2451–2459.
McCabe MT, Graves AP, Ganji G, Diaz E, Halsey WS, Jiang Y et al. Mutation of A677 in histone methyltransferase EZH2 in human B-cell lymphoma promotes hypertrimethylation of histone H3 on lysine 27 (H3K27). Proc Natl Acad Sci USA 2012; 109: 2989–2994.
McCabe MT, Ott HM, Ganji G, Korenchuk S, Thompson C, Van Aller GS et al. EZH2 inhibition as a therapeutic strategy for lymphoma with EZH2-activating mutations. Nature 2012; 492: 108–112.
Ren C, Morohashi K, Plotnikov AN, Jakoncic J, Smith SG, Li J et al. Small-molecule modulators of methyl-lysine binding for the CBX7 chromodomain. Chem Biol 2015; 22: 161–168.
Kizer KO, Phatnani HP, Shibata Y, Hall H, Greenleaf AL, Strahl BD . A novel domain in Set2 mediates RNA polymerase II interaction and couples histone H3 K36 methylation with transcript elongation. Mol Cell Biol 2005; 25: 3305–3316.
Wagner EJ, Carpenter PB . Understanding the language of Lys36 methylation at histone H3. Nat Rev Mol Cell Biol 2012; 13: 115–126.
Edmunds JW, Mahadevan LC, Clayton AL . Dynamic histone H3 methylation during gene induction: HYPB/Setd2 mediates all H3K36 trimethylation. EMBO J 2008; 27: 406–420.
Li Y, Trojer P, Xu CF, Cheung P, Kuo A, Drury WJ et al. The target of the NSD family of histone lysine methyltransferases depends on the nature of the substrate. J Biol Chem 2009; 284: 34283–34295.
Qiao Q, Li Y, Chen Z, Wang M, Reinberg D, Xu RM . The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. J Biol Chem 2011; 286: 8361–8368.
Nimura K, Ura K, Shiratori H, Ikawa M, Okabe M, Schwartz RJ et al. A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf–Hirschhorn syndrome. Nature 2009; 460: 287–291.
Yuan W, Xie J, Long C, Erdjument-Bromage H, Ding X, Zheng Y et al. Heterogeneous nuclear ribonucleoprotein L is a subunit of human KMT3a/Set2 complex required for H3 Lys-36 trimethylation activity in vivo. J Biol Chem 2009; 284: 15701–15707.
Ho TH, Park IY, Zhao H, Tong P, Champion MD, Yan H et al. High-resolution profiling of histone h3 lysine 36 trimethylation in metastatic renal cell carcinoma. Oncogene 2016; 35: 1565–1574.
Zhu K, Lei PJ, Ju LG, Wang X, Huang K, Yang B et al. SPOP-containing complex regulates SETD2 stability and H3K36me3-coupled alternative splicing. Nucleic Acids Res 2016; 45: 92–105.
Lucio-Eterovic AK, Singh MM, Gardner JE, Veerappan CS, Rice JC, Carpenter PB . 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 2010; 107: 16952–16957.
Li H, Ilin S, Wang W, Duncan EM, Wysocka J, Allis CD et al. Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF. Nature 2006; 442: 91–95.
Bannister AJ, Schneider R, Myers FA, Thorne AW, Crane-Robinson C, Kouzarides T . Spatial distribution of di- and tri-methyl lysine 36 of histone H3 at active genes. J Biol Chem 2005; 280: 17732–17736.
Carrozza MJ, Li B, Florens L, Suganuma T, Swanson SK, Lee KK et al. Histone H3 methylation by Set2 directs deacetylation of coding regions by Rpd3S to suppress spurious intragenic transcription. Cell 2005; 123: 581–592.
Fang R, Barbera AJ, Xu Y, Rutenberg M, Leonor T, Bi Q et al. Human LSD2/KDM1b/AOF1 regulates gene transcription by modulating intragenic H3K4me2 methylation. Mol Cell 2010; 39: 222–233.
Dhayalan A, Rajavelu A, Rathert P, Tamas R, Jurkowska RZ, Ragozin S et al. The Dnmt3a PWWP domain reads histone 3 lysine 36 trimethylation and guides DNA methylation. J Biol Chem 2010; 285: 26114–26120.
Rahman S, Sowa ME, Ottinger M, Smith JA, Shi Y, Harper JW et al. The Brd4 extraterminal domain confers transcription activation independent of pTEFb by recruiting multiple proteins, including NSD3. Mol Cell Biol 2011; 31: 2641–2652.
Yuan W, Xu M, Huang C, Liu N, Chen S, Zhu B . H3K36 methylation antagonizes PRC2-mediated H3K27 methylation. J Biol Chem 2011; 286: 7983–7989.
Young MD, Willson TA, Wakefield MJ, Trounson E, Hilton DJ, Blewitt ME et al. ChIP-seq analysis reveals distinct H3K27me3 profiles that correlate with transcriptional activity. Nucleic Acids Res 2011; 39: 7415–7427.
Li F, Mao G, Tong D, Huang J, Gu L, Yang W et al. The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutSalpha. Cell 2013; 153: 590–600.
Fnu S, Williamson EA, De Haro LP, Brenneman M, Wray J, Shaheen M et al. Methylation of histone H3 lysine 36 enhances DNA repair by nonhomologous end-joining. Proc Natl Acad Sci USA 2011; 108: 540–545.
Pfister SX, Ahrabi S, Zalmas LP, Sarkar S, Aymard F, Bachrati CZ et al. SETD2-dependent histone H3K36 trimethylation is required for homologous recombination repair and genome stability. Cell Rep 2014; 7: 2006–2018.
Kim S, Kim H, Fong N, Erickson B, Bentley DL . Pre-mRNA splicing is a determinant of histone H3K36 methylation. Proc Natl Acad Sci USA 2011; 108: 13564–13569.
Guo R, Zheng L, Park JW, Lv R, Chen H, Jiao F et al. BS69/ZMYND11 reads and connects histone H3.3 lysine 36 trimethylation-decorated chromatin to regulated pre-mRNA processing. Mol Cell 2014; 56: 298–310.
de Almeida SF, Grosso AR, Koch F, Fenouil R, Carvalho S, Andrade J et al. Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36. Nat Struct Mol Biol 2011; 18: 977–983.
Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T et al. Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet 2002; 30: 365–366.
Wang GG, Cai L, Pasillas MP, Kamps MP . NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis. Nat Cell Biol 2007; 9: 804–812.
Kuo AJ, Cheung P, Chen K, Zee BM, Kioi M, Lauring J et al. NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming. Mol Cell 2011; 44: 609–620.
Jaju RJ, Fidler C, Haas OA, Strickson AJ, Watkins F, Clark K et al. A novel gene, NSD1, is fused to NUP98 in the t(5;11)(q35;p15.5) in de novo childhood acute myeloid leukemia. Blood 2001; 98: 1264–1267.
Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A et al. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature 2010; 463: 360–363.
Zhu X, He F, Zeng H, Ling S, Chen A, Wang Y et al. Identification of functional cooperative mutations of SETD2 in human acute leukemia. Nat Genet 2014; 46: 287–293.
Nguyen AT, Zhang Y . The diverse functions of Dot1 and H3K79 methylation. Genes Dev 2011; 25: 1345–1358.
Singer MS, Kahana A, Wolf AJ, Meisinger LL, Peterson SE, Goggin C et al. Identification of high-copy disruptors of telomeric silencing in Saccharomyces cerevisiae. Genetics 1998; 150: 613–632.
van Leeuwen F, Gafken PR, Gottschling DE . Dot1p modulates silencing in yeast by methylation of the nucleosome core. Cell 2002; 109: 745–756.
Feng Q, Wang H, Ng HH, Erdjument-Bromage H, Tempst P, Struhl K et al. Methylation of H3-lysine 79 is mediated by a new family of HMTases without a SET domain. Curr Biol 2002; 12: 1052–1058.
Shanower GA, Muller M, Blanton JL, Honti V, Gyurkovics H, Schedl P . Characterization of the grappa gene, the Drosophila histone H3 lysine 79 methyltransferase. Genetics 2005; 169: 173–184.
Jones B, Su H, Bhat A, Lei H, Bajko J, Hevi S et al. The histone H3K79 methyltransferase Dot1L is essential for mammalian development and heterochromatin structure. PLoS Genet 2008; 4: e1000190.
McGinty RK, Kim J, Chatterjee C, Roeder RG, Muir TW . Chemically ubiquitylated histone H2B stimulates hDot1L-mediated intranucleosomal methylation. Nature 2008; 453: 812–816.
Min J, Feng Q, Li Z, Zhang Y, Xu RM . Structure of the catalytic domain of human DOT1L, a non-SET domain nucleosomal histone methyltransferase. Cell 2003; 112: 711–723.
Sawada K, Yang Z, Horton JR, Collins RE, Zhang X, Cheng X . Structure of the conserved core of the yeast Dot1p, a nucleosomal histone H3 lysine 79 methyltransferase. J Biol Chem 2004; 279: 43296–43306.
Ng HH, Feng Q, Wang H, Erdjument-Bromage H, Tempst P, Zhang Y et al. Lysine methylation within the globular domain of histone H3 by Dot1 is important for telomeric silencing and Sir protein association. Genes Dev 2002; 16: 1518–1527.
Lacoste N, Utley RT, Hunter JM, Poirier GG, Côté J . Disruptor of telomeric silencing-1 is a chromatin-specific histone H3 methyltransferase. J Biol Chem 2002; 277: 30421–30424.
Briggs SD, Xiao T, Sun ZW, Caldwell JA, Shabanowitz J, Hunt DF et al. Gene silencing: trans-histone regulatory pathway in chromatin. Nature 2002; 418: 498.
Ng HH, Xu RM, Zhang Y, Struhl K . Ubiquitination of histone H2B by Rad6 is required for efficient Dot1-mediated methylation of histone H3 lysine 79. J Biol Chem 2002; 277: 34655–34657.
McGinty RK, Köhn M, Chatterjee C, Chiang KP, Pratt MR, Muir TW Structure–activity analysis of semisynthetic nucleosomes: mechanistic insights into the stimulation of Dot1L by ubiquitylated histone H2B ACS Chem Biol 2009; 4: 958–968.
Holt MT, David Y, Pollock S, Tang Z, Jeon J, Kim J et al. Identification of a functional hotspot on ubiquitin required for stimulation of methyltransferase activity on chromatin. Proc Natl Acad Sci USA 2015; 112: 10365–10370.
Zhou L, Holt MT, Ohashi N, Zhao A, Müller MM, Wang B et al. Evidence that ubiquitylated H2B corrals hDot1L on the nucleosomal surface to induce H3K79 methylation. Nat Commun 2016; 7: 10589.
Altaf M, Utley RT, Lacoste N, Tan S, Briggs SD, Côté J . Interplay of chromatin modifiers on a short basic patch of histone H4 tail defines the boundary of telomeric heterochromatin. Mol Cell 2007; 28: 1002–1014.
Katan-Khaykovich Y, Struhl K . Heterochromatin formation involves changes in histone modifications over multiple cell generations. EMBO J 2005; 24: 2138–2149.
Kim W, Kim R, Park G, Park JW, Kim JE . Deficiency of H3K79 histone methyltransferase Dot1-like protein (DOT1L) inhibits cell proliferation. J Biol Chem 2012; 287: 5588–5599.
Xu W, Yang H, Liu Y, Yang Y, Wang P, Kim SH et al. Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenases. Cancer Cell 2011; 19: 17–30.
Onishi M, Liou GG, Buchberger JR, Walz T, Moazed D . Role of the conserved Sir3-BAH domain in nucleosome binding and silent chromatin assembly. Mol Cell 2007; 28: 1015–1028.
Huyen Y, Zgheib O, DiTullio RA Jr, Gorgoulis VG, Zacharatos P, Petty TJ et al. Methylated lysine 79 of histone H3 targets 53BP1 to DNA double-strand breaks. Nature 2004; 432: 406–411.
Wysocki R, Javaheri A, Allard S, Sha F, Côté J, Kron SJ . Role of Dot1-dependent histone H3 methylation in G1 and S phase DNA damage checkpoint functions of Rad9. Mol Cell Biol 2005; 25: 8430–8443.
Giannattasio M, Lazzaro F, Plevani P, Muzi-Falconi M . The DNA damage checkpoint response requires histone H2B ubiquitination by Rad6-Bre1 and H3 methylation by Dot1. J Biol Chem 2005; 280: 9879–9886.
Game JC, Williamson MS, Spicakova T, Brown JM . The RAD6/BRE1 histone modification pathway in Saccharomyces confers radiation resistance through a RAD51-dependent process that is independent of RAD18. Genetics 2006; 173: 1951–1968.
Conde F, Ontoso D, Acosta I, Gallego-Sánchez A, Bueno A, San-Segundo PA . Regulation of tolerance to DNA alkylating damage by Dot1 and Rad53 in Saccharomyces cerevisiae. DNA Repair 2010; 9: 1038–1049.
Lévesque N, Leung GP, Fok AK, Schmidt TI, Kobor MS . Loss of H3 K79 trimethylation leads to suppression of Rtt107-dependent DNA damage sensitivity through the translesion synthesis pathway. J Biol Chem 2010; 285: 35113–35122.
Farooq Z, Banday S, Pandita TK, Altaf M . The many faces of histone H3K79 methylation. Mutat Res Rev Mutat Res 2016; 768: 46–52.
Ng HH, Ciccone DN, Morshead KB, Oettinger MA, Struhl K . Lysine-79 of histone H3 is hypomethylated at silenced loci in yeast and mammalian cells: a potential mechanism for position-effect variegation. Proc Natl Acad Sci USA 2003; 100: 1820–1825.
Schübeler D, MacAlpine DM, Scalzo D, Wirbelauer C, Kooperberg C, van Leeuwen F et al. The histone modification pattern of active genes revealed through genome-wide chromatin analysis of a higher eukaryote. Genes Dev 2004; 18: 1263–1271.
Pokholok DK, Harbison CT, Levine S, Cole M, Hannett NM, Lee TI et al. Genome-wide map of nucleosome acetylation and methylation in yeast. Cell 2005; 122: 517–527.
Wang Z, Zang C, Rosenfeld JA, Schones DE, Barski A, Cuddapah S et al. Combinatorial patterns of histone acetylations and methylations in the human genome. Nat Genet 2008; 40: 897–903.
Kouskouti A, Talianidis I . Histone modifications defining active genes persist after transcriptional and mitotic inactivation. EMBO J 2005; 24: 347–357.
Steger DJ, Lefterova MI, Ying L, Stonestrom AJ, Schupp M, Zhuo D et al. DOT1L/KMT4 recruitment and H3K79 methylation are ubiquitously coupled with gene transcription in mammalian cells. Mol Cell Biol 2008; 28: 2825–2839.
Mueller D, Bach C, Zeisig D, Garcia-Cuellar MP, Monroe S, Sreekumar A et al. A role for the MLL fusion partner ENL in transcriptional elongation and chromatin modification. Blood 2007; 110: 4445–4454.
Bitoun E, Oliver PL, Davies KE . The mixed-lineage leukemia fusion partner AF4 stimulates RNA polymerase II transcriptional elongation and mediates coordinated chromatin remodeling. Hum Mol Genet 2007; 16: 92–106.
Mueller D, García-Cuéllar MP, Bach C, Buhl S, Maethner E, Slany RK . Misguided transcriptional elongation causes mixed lineage leukemia. PLoS Biol 2009; 7: e1000249.
Mohan M, Herz HM, Takahashi YH, Lin C, Lai KC, Zhang Y et al. Linking H3K79 trimethylation to Wnt signaling through a novel Dot1-containing complex (DotCom). Genes Dev 2010; 24: 574–589.
Ayton PM, Cleary ML . Molecular mechanisms of leukemogenesis mediated by MLL fusion proteins. Oncogene 2001; 20: 5695–5707.
Okada Y, Feng Q, Lin Y, Jiang Q, Li Y, Coffield VM et al. hDOT1L links histone methylation to leukemogenesis. Cell 2005; 121: 167–178.
Okada Y, Jiang Q, Lemieux M, Jeannotte L, Su L, Zhang Y . Leukaemic transformation by CALM–AF10 involves upregulation of Hoxa5 by hDOT1L. Nat Cell Biol 2006; 8: 1017–1024.
Krivtsov AV, Feng Z, Lemieux ME, Faber J, Vempati S, Sinha AU et al. H3K79 methylation profiles define murine and human MLL-AF4 leukemias. Cancer Cell 2008; 14: 355–368.
Chang MJ, Wu H, Achille NJ, Reisenauer MR, Chou CW, Zeleznik-Le NJ et al. Histone H3 lysine 79 methyltransferase Dot1 is required for immortalization by MLL oncogenes. Cancer Res 2010; 70: 10234–10242.
Nguyen AT, Taranova O, He J, Zhang Y . DOT1L, the H3K79 methyltransferase, is required for MLL-AF9-mediated leukemogenesis. Blood 2011; 117: 6912–6922.
Daigle SR, Olhava EJ, Therkelsen CA, Majer CR, Sneeringer CJ, Song J et al. Selective killing of mixed lineage leukemia cells by a potent small-molecule DOT1L inhibitor. Cancer Cell 2011; 20: 53–65.
Daigle SR, Olhava EJ, Therkelsen CA, Basavapathruni A, Jin L, Boriack-Sjodin PA et al. Potent inhibition of DOT1L as treatment of MLL-fusion leukemia. Blood 2013; 122: 1017–1025.
Zhang L, Deng L, Chen F, Yao Y, Wu B, Wei L et al. Inhibition of histone H3K79 methylation selectively inhibits proliferation, self-renewal and metastatic potential of breast cancer. Oncotarget 2014; 5: 10665–10677.
Yang A, Ha S, Ahn J, Kim R, Kim S, Lee Y et al. A chemical biology route to site-specific authentic protein modifications. Science 2016; 354: 623–626.
Fang J, Feng Q, Ketel CS, Wang H, Cao R, Xia L et al. Purification and functional characterization of SET8, a nucleosomal histone H4-lysine 20-specific methyltransferase. Curr Biol 2002; 12: 1086–1099.
Nishioka K, Rice JC, Sarma K, Erdjument-Bromage H, Werner J, Wang Y et al. PR-Set7 is a nucleosome-specific methyltransferase that modifies lysine 20 of histone H4 and is associated with silent chromatin. Mol Cell 2002; 9: 1201–1213.
Schotta G, Lachner M, Sarma K, Ebert A, Sengupta R, Reuter G et al. A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin. Genes Dev 2004; 18: 1251–1262.
Schotta G, Sengupta R, Kubicek S, Malin S, Kauer M, Callén E et al. A chromatin-wide transition to H4K20 monomethylation impairs genome integrity and programmed DNA rearrangements in the mouse. Genes Dev 2008; 22: 2048–2061.
Yang H, Pesavento JJ, Starnes TW, Cryderman DE, Wallrath LL, Kelleher NL et al. Preferential dimethylation of histone H4 lysine 20 by Suv4-20. J Biol Chem 2008; 283: 12085–12092.
Southall SM, Cronin NB, Wilson JR . A novel route to product specificity in the Suv4-20 family of histone H4K20 methyltransferases. Nucleic Acids Res 2014; 42: 661–671.
van Nuland R, Gozani O . Histone H4 lysine 20 (H4K20) methylation, expanding the signaling potential of the proteome one methyl moiety at a time. Mol Cell Proteomics 2016; 15: 755–764.
Kapoor-Vazirani P, Kagey JD, Vertino PM . SUV420H2-mediated H4K20 trimethylation enforces RNA polymerase II promoter-proximal pausing by blocking hMOF-dependent H4K16 acetylation. Mol Cell Biol 2011; 31: 1594–1609.
Qi HH, Sarkissian M, Hu GQ, Wang Z, Bhattacharjee A, Gordon DB et al. Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development. Nature 2010; 466: 503–507.
Liu W, Tanasa B, Tyurina OV, Zhou TY, Gassmann R, Liu WT et al. PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression. Nature 2010; 466: 508–512.
Wang J, Telese F, Tan Y, Li W, Jin C, Basnet H et al. LSD1n is an H4K20 demethylase regulating memory formation via transcriptional elongation control. Nat Neurosci 2015; 18: 1256–1264.
Stender JD, Pascual G, Liu W, Kaikkonen MU, Do K, Spann NJ et al. Control of proinflammatory gene programs by regulated trimethylation and demethylation of histone H4K20. Mol Cell 2012; 48: 28–38.
Jørgensen S, Schotta G, Sørensen CS . Histone H4 lysine 20 methylation: key player in epigenetic regulation of genomic integrity. Nucleic Acids Res 2013; 41: 2797–2806.
Oda H, Okamoto I, Murphy N, Chu J, Price SM, Shen MM et al. Monomethylation of histone H4-lysine 20 is involved in chromosome structure and stability and is essential for mouse development. Mol Cell Biol 2009; 29: 2278–2295.
Huen MS, SM-H Sy, van Deursen JM, Chen J . Direct interaction between SET8 and proliferating cell nuclear antigen couples H4-K20 methylation with DNA replication. J Biol Chem 2008; 283: 11073–11077.
Houston SI, McManus KJ, Adams MM, Sims JK, Carpenter PB, Hendzel MJ et al. Catalytic function of the PR-Set7 histone H4 lysine 20 monomethyltransferase is essential for mitotic entry and genomic stability. J Biol Chem 2008; 283: 19478–19488.
Li Y, Armstrong RL, Duronio RJ, MacAlpine DM . Methylation of histone H4 lysine 20 by PR-Set7 ensures the integrity of late replicating sequence domains in Drosophila. Nucleic Acids Res 2016; 44: 7204–7218.
Botuyan MV, Lee J, Ward IM, Kim JE, Thompson JR, Chen J et al. Structural basis for the methylation state-specific recognition of histone H4-K20 by 53BP1 and Crb2 in DNA repair. Cell 2006; 127: 1361–1373.
Oda H, Hübner MR, Beck DB, Vermeulen M, Hurwitz J, Spector DL et al. Regulation of the histone H4 monomethylase PR-Set7 by CRL4 Cdt2-mediated PCNA-dependent degradation during DNA damage. Mol Cell 2010; 40: 364–376.
Sanders SL, Portoso M, Mata J, Bähler J, Allshire RC, Kouzarides T . Methylation of histone H4 lysine 20 controls recruitment of Crb2 to sites of DNA damage. Cell 2004; 119: 603–614.
Boccuni P, MacGrogan D, Scandura JM, Nimer SD . The human L(3)MBT polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6). J Biol Chem 2003; 278: 15412–15420.
Trojer P, Li G, Sims RJ, Vaquero A, Kalakonda N, Boccuni P et al. L3MBTL1, a histone-methylation-dependent chromatin lock. Cell 2007; 129: 915–928.
Lu X, Simon MD, Chodaparambil JV, Hansen JC, Shokat KM, Luger K . The effect of H3K79 dimethylation and H4K20 trimethylation on nucleosome and chromatin structure. Nat Struct Mol Biol 2008; 15: 1122–1124.
Kuo AJ, Song J, Cheung P, Ishibe-Murakami S, Yamazoe S, Chen JK et al. The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier–Gorlin syndrome. Nature 2012; 484: 115–119.
Beck DB, Burton A, Oda H, Ziegler-Birling C, Torres-Padilla ME, Reinberg D . The role of PR-Set7 in replication licensing depends on Suv4-20h. Genes Dev 2012; 26: 2580–2589.
Jørgensen S, Elvers I, Trelle MB, Menzel T, Eskildsen M, Jensen ON et al. The histone methyltransferase SET8 is required for S-phase progression. J Cell Biol 2007; 179: 1337–1345.
Tardat M, Brustel J, Kirsh O, Lefevbre C, Callanan M, Sardet C et al. The histone H4 Lys 20 methyltransferase PR-Set7 regulates replication origins in mammalian cells. Nat Cell Biol 2010; 12: 1086–1093.
Yang H, Kwon CS, Choi Y, Lee D . Both H4K20 mono-methylation and H3K56 acetylation mark transcription-dependent histone turnover in fission yeast. Biochem Biophys Res Commun 2016; 476: 515–521.
Svensson JP, Shukla M, Menendez-Benito V, Norman-Axelsson U, Audergon P, Sinha I et al. A nucleosome turnover map reveals that the stability of histone H4 Lys20 methylation depends on histone recycling in transcribed chromatin. Genome Res 2015; 25: 872–883.
Scharf AN, Barth TK, Imhof A . Establishment of histone modifications after chromatin assembly. Nucleic Acids Res 2009; 37: 5032–5040.
Fraga MF, Ballestar E, Villar-Garea A, Boix-Chornet M, Espada J, Schotta G et al. Loss of acetylation at Lys16 and trimethylation at Lys20 of histone H4 is a common hallmark of human cancer. Nat Genet 2005; 37: 391–400.
Van Den Broeck A, Brambilla E, Moro-Sibilot D, Lantuejoul S, Brambilla C, Eymin B et al. Loss of histone h4k20 trimethylation occurs in preneoplasia and influences prognosis of non-small cell lung cancer. Clin Cancer Res 2008; 14: 7237–7245.
Elsheikh SE, Green AR, Rakha EA, Powe DG, Ahmed RA, Collins HM et al. Global histone modifications in breast cancer correlate with tumor phenotypes, prognostic factors, and patient outcome. Cancer Res 2009; 69: 3802–3809.
Bagnyukova TV, Tryndyak VP, Montgomery B, Churchwell MI, James SR, Muskhelishvili L et al. Genetic and epigenetic changes in rat preneoplastic liver tissue induced by 2-acetylaminofluorene. Carcinogenesis 2008; 29: 638–646.
Li T, Zheng Q, An J, Wu M, Li H, Gui X et al. SET1A cooperates with CUDR to promote liver cancer growth and hepatocyte-like stem cell malignant transformation epigenetically. Mol Ther 2016; 24: 261–275.
Lim S, Metzger E, Schüle R, Kirfel J, Buettner R . Epigenetic regulation of cancer growth by histone demethylases. Int J Cancer 2010; 127: 1991–1998.
Grasso CS, Wu YM, Robinson DR, Cao X, Dhanasekaran SM, Khan AP et al. The mutational landscape of lethal castration-resistant prostate cancer. Nature 2012; 487: 239–243.
Yang Y, Yin X, Yang H, Xu Y . Histone demethylase LSD2 acts as an E3 ubiquitin ligase and inhibits cancer cell growth through promoting proteasomal degradation of OGT. Mol Cell 2015; 58: 47–59.
Bowser R, Giambrone A, Davies P . FAC1, a novel gene identified with the monoclonal antibody Alz50, is developmentally regulated in human brain. Dev Neurosci 1995; 17: 20–37.
Kurabe N, Murakami S, Tashiro F . SGF29 and Sry pathway in hepatocarcinogenesis. World J Biol Chem 2015; 6: 139–147.
Piunti A, Shilatifard A . Epigenetic balance of gene expression by Polycomb and COMPASS families. Science 2016; 352: aad9780.
Lu PJ, Sundquist K, Baeckstrom D, Poulsom R, Hanby A, Meier-Ewert S . A novel gene (PLU-1) containing highly conserved putative DNA/chromatin binding motifs is specifically up-regulated in breast cancer. J Biol Chem 1999; 274: 15633–15645.
Zhang X, Xu LS, Wang ZQ, Wang KS, Li N, Cheng ZH et al. ING4 induces G2/M cell cycle arrest and enhances the chemosensitivity to DNA-damage agents in HepG2 cells. FEBS Lett 2004; 570: 7–12.
Kim S, Welm AL, Bishop JM . A dominant mutant allele of the ING4 tumor suppressor found in human cancer cells exacerbates MYC-initiated mouse mammary tumorigenesis. Cancer Res 2010; 70: 5155–5162.
Young SR, Skalnik DG . CXXC finger protein 1 is required for normal proliferation and differentiation of the PLB-985 myeloid cell line. DNA Cell Biol 2007; 26: 80–90.
Coda DM, Lingua MF, Morena D, Foglizzo V, Bersani F, Ala U et al. SMYD1 and G6PD modulation are critical events for miR-206-mediated differentiation of rhabdomyosarcoma. Cell Cycle 2015; 14: 1389–1402.
Kaelin WG Jr, Ratcliffe PJ . Oxygen sensing by metazoans: the central role of the HIF hydroxylase pathway. Mol Cell 2008; 30: 393–402.
Sinha S, Singh RK, Alam N, Roy A, Roychoudhury S, Panda CK . Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma. Mol Cancer 2008; 7: 84.
Reynoird N, Mazur PK, Stellfeld T, Flores NM, Lofgren SM, Carlson SM et al. Coordination of stress signals by the lysine methyltransferase SMYD2 promotes pancreatic cancer. Genes Dev 2016; 30: 772–785.
Komatsu S, Ichikawa D, Hirajima S, Nagata H, Nishimura Y, Kawaguchi T . Overexpression of SMYD2 contributes to malignant outcome in gastric cancer. Br J Cancer 2015; 112: 357–364.
Yuan H, Zhang P, Qin L, Chen L, Shi S, Lu Y et al. Overexpression of SPINDLIN1 induces cellular senescence, multinucleation and apoptosis. Gene 2008; 410: 67–74.
Franz H, Greschik H, Willmann D, Ozretić L, Jilg CA, Wardelmann E et al. The histone code reader SPIN1 controls RET signaling in liposarcoma. Oncotarget 2015; 6: 4773–4789.
Akiyama Y, Koda Y, Byeon SJ, Shimada S, Nishikawaji T, Sakamoto A et al. Reduced expression of SET7/9, a histone mono-methyltransferase, is associated with gastric cancer progression. Oncotarget 2016; 7: 3966–3983.
Wang Z, Hu J, Li G, Qu L, He Q, Lou Y et al. PHF23 (plant homeodomain finger protein 23) negatively regulates cell autophagy by promoting ubiquitination and degradation of E3 ligase LRSAM1. Autophagy 2014; 10: 2158–2170.
Hussin J, Sinnett D, Casals F, Idaghdour Y, Bruat V, Saillour V et al. Rare allelic forms of PRDM9 associated with childhood leukemogenesis. Genome Res 2013; 23: 419–430.
Braig M, Lee S, Loddenkemper C, Rudolph C, Peters AH, Schlegelberger B et al. Oncogene-induced senescence as an initial barrier in lymphoma development. Nature 2005; 436: 660–665.
Song K, Jung Y, Jung D, Lee I . Human Ku70 interacts with heterochromatin protein 1alpha. J Biol Chem 2001; 276: 8321–8327.
Uemura M, Yamamoto H, Takemasa I, Mimori K, Hemmi H, Mizushima T et al. Jumonji domain containing 1A is a novel prognostic marker for colorectal cancer: in vivo identification from hypoxic tumor cells. Clin Cancer Res 2010; 16: 4636–4646.
Qi J, Nakayama K, Cardiff RD, Borowsky AD, Kaul K, Williams R et al. Siah2-dependent concerted activity of HIF and FoxA2 regulates formation of neuroendocrine phenotype and neuroendocrine prostate tumors. Cancer Cell 2010; 18: 23–38.
Guo X, Shi M, Sun L, Wang Y, Gui Y, Cai Z et al. The expression of histone demethylase JMJD1A in renal cell carcinoma. Neoplasma 2011; 58: 153–157.
Kirschmann DA, Seftor EA, Nieva DR, Mariano EA, Hendrix MJ . Differentially expressed genes associated with the metastatic phenotype in breast cancer. Breast Cancer Res Treat 1999; 55: 127–136.
Pomeroy SL, Tamayo P, Gaasenbeek M, Sturla LM, Angelo M, McLaughlin ME et al. Prediction of central nervous system embryonal tumour outcome based on gene expression. Nature 2002; 415: 436–442.
Wasenius VM, Hemmer S, Kettunen E, Knuutila S, Franssila K, Joensuu H . Hepatocyte growth factor receptor, matrix metalloproteinase-11, tissue inhibitor of metalloproteinase-1, and fibronectin are up-regulated in papillary thyroid carcinoma: a cDNA and tissue microarray study. Clin Cancer Res 2003; 9: 68–75.
Kim JY, Kim KB, Eom GH, Choe N, Kee HJ, Son HJ et al. KDM3B is the H3K9 demethylase involved in transcriptional activation of lmo2 in leukemia. Mol Cell Biol 2012; 32: 2917–2933.
Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N et al. Update on Kleefstra Syndrome. Mol Syndromol 2012; 2: 202–212.
Babacan NA, Egilmez HR, Yucel B, Ilknur P, Seker MM, Kacan T et al. The prognostic value of UHRF-1 and p53 in gastric cancer. Saudi J Gastroenterol 2016; 22: 25–29.
Kauffman EC, Robinson BD, Downes MJ, Powell LG, Lee MM, Scherr DS et al. Role of androgen receptor and associated lysine-demethylase coregulators, LSD1 and JMJD2A, in localized and advanced human bladder cancer. Mol Carcinogen 2011; 50: 931–944.
Patani N, Jiang WG, Newbold RF, Mokbel K . Histone-modifier gene expression profiles are associated with pathological and clinical outcomes in human breast cancer. Anticancer Res 2011; 31: 4115–4125.
Steele-Perkins G, Fang W, Yang XH, Van Gele M, Carling T, Gu J et al. Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein-methyltransferase superfamily. Genes Dev 2001; 15: 2250–2262.
Sasaki O, Meguro K, Tohmiya Y, Funato T, Shibahara S, Sasaki T . Altered expression of retinoblastoma protein-interacting zinc finger gene, RIZ, in human leukaemia. Br J Haematol 2002; 119: 940–948.
Xie W, Li X, Chen X, Huang S, Huang S . Decreased expression of PRDM2 (RIZ1) and its correlation with risk stratification in patients with myelodysplastic syndrome. Br J Haematol 2010; 150: 242–244.
Pryor JG, Brown-Kipphut BA, Iqbal A, Scott GA . Microarray comparative genomic hybridization detection of copy number changes in desmoplastic melanoma and malignant peripheral nerve sheath tumor. Am J Dermatopathol 2011; 33: 780–785.
Yang ZQ, Imoto I, Fukuda Y, Pimkhaokham A, Shimada Y, Imamura M et al. Identification of a novel gene, GASC1, within an amplicon at 9p23-24 frequently detected in esophageal cancer cell lines. Cancer Res 2000; 60: 4735–4739.
Liu G, Bollig-Fischer A, Kreike B, van de Vijver MJ, Abrams J, Ethier SP et al. Genomic amplification and oncogenic properties of the GASC1 histone demethylase gene in breast cancer. Oncogene 2009; 28: 4491–4500.
Ehrbrecht A, Muller U, Wolter M, Hoischen A, Koch A, Radlwimmer B et al. Comprehensive genomic analysis of desmoplastic medulloblastomas: identification of novel amplified genes and separate evaluation of the different histological components. J Pathol 2006; 208: 554–563.
Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE et al. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet 2005; 42: 780–786.
Nawaz Z, Patil V, Arora A, Hegde AS, Arivazhagan A, Santosh V et al. Cbx7 is epigenetically silenced in glioblastoma and inhibits cell migration by targeting YAP/TAZ-dependent transcription. Sci Rep 2016; 6: 27753.
Xu K, Wu ZJ, Groner AC, He HH, Cai C, Lis RT et al. EZH2 oncogenic activity in castration-resistant prostate cancer cells is Polycomb-independent. Science 2012; 338: 1465–1469.
Dutta A, Le Magnen C, Mitrofanova A, Ouyang X, Califano A, Abate-Shen C . Identification of an NKX3.1-G9a-UTY transcriptional regulatory network that controls prostate differentiation. Science 2016; 352: 1576–1580.
Liu YL, Gao X, Jiang Y, Zhang G, Sun ZC, Cui BB et al. Expression and clinicopathological significance of EED, SUZ12 and EZH2 mRNA in colorectal cancer. J Cancer Res Clin Oncol 2015; 141: 661–669.
Bierne H, Tham TN, Batsche E, Dumay A, Leguillou M, Kernéis-Golsteyn S et al. Human BAHD1 promotes heterochromatic gene silencing. Proc Natl Acad Sci USA 2009; 106: 13826–13831.
García-Carpizo V, Sarmentero J, Han B, Graña O, Ruiz-Llorente S, Pisano DG et al. NSD2 contributes to oncogenic RAS-driven transcription in lung cancer cells through long-range epigenetic activation. Sci Rep 2016; 6: 32952.
Duns G, van den Berg E, van Duivenbode I, Osinga J, Hollema H, Hofstra RM et al. Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma. Cancer Res 2010; 70: 4287–4291.
Berenstein R, Blau IW, Suckert N, Baldus C, Pezzutto A, Dorken B et al. Quantitative detection of DNMT3A R882H mutation in acute myeloid leukemia. J Exp Clin Cancer Res 2015; 34: 55.
La Starza R, Gorello P, Rosati R, Riezzo A, Veronese A, Ferrazzi E et al. Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts. Genes Chromosomes Cancer 2004; 41: 395–399.
Berdasco M, Ropero S, Setien F, Fraga MF, Lapunzina P, Losson R et al. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. Proc Natl Acad Sci USA 2009; 106: 21830–21835.
He J, Nguyen AT, Zhang Y . KDM2b/JHDM1b, an H3K36me2-specific demethylase, is required for initiation and maintenance of acute myeloid leukemia. Blood 2011; 117: 3869–3880.
Kottakis F, Polytarchou C, Foltopoulou P, Sanidas I, Kampranis SC, Tsichlis PN . FGF-2 regulates cell proliferation, migration, and angiogenesis through an NDY1/KDM2B-miR-101-EZH2 pathway. Mol Cell 2011; 43: 285–298.
Chan TS, Hawkins C, Krieger JR, McGlade CJ, Huang A . JPO2/CDCA7L and LEDGF/p75 are novel mediators of PI3K/AKT signaling and aggressive phenotypes in medulloblastoma. Cancer Res 2016; 76: 2802–2812.
Basu A, Cajigas-Du Ross CK, Rios-Colon L, Mediavilla-Varela M, Daniels-Wells TR, Leoh LS et al. LEDGF/p75 overexpression attenuates oxidative stress-induced necrosis and upregulates the oxidoreductase ERP57/PDIA3/GRP58 in prostate cancer. PLoS ONE 2016; 11: e0146549.
Altan B, Yokobori T, Ide M, Bai T, Yanoma T, Kimura A et al. High expression of MRE11-RAD50-NBS1 is associated with poor prognosis and chemoresistance in gastric cancer. Anticancer Res 2016; 36: 5237–5247.
Angrand PO, Apiou F, Stewart AF, Dutrillaux B, Losson R, Chambon P . NSD3, a new SET domain-containing gene, maps to 8p12 and is amplified in human breast cancer cell lines. Genomics 2001; 74: 79–88.
Rosati R, La Starza R, Veronese A, Aventin A, Schwienbacher C, Vallespi T et al. NUP98 is fused to the NSD3 gene in acute myeloid leukemia associated with t(8;11)(p11.2;p15). Blood 2002; 99: 3857–3860.
Taketani T, Taki T, Nakamura H, Taniwaki M, Masuda J, Hayashi Y . NUP98-NSD3 fusion gene in radiation-associated myelodysplastic syndrome with t(8;11)(p11;p15) and expression pattern of NSD family genes. Cancer Genet Cytogenet 2009; 190: 108–112.
Lu Y, Gao J, Lu Y . Down-expression pattern of Ku70 and p53 coexisted in colorectal cancer. Med Oncol 2015; 32: 98.
Zhu L, Li Q, Wong SH, Huang M, Klein BJ, Shen J et al. ASH1L links histone H3 lysine 36 dimethylation to MLL leukemia. Cancer Discov 2016; 6: 770–783.
Wen H, Li Y, Xi Y, Jiang S, Stratton S, Peng D et al. ZMYND11 links histone H3.3K36me3 to transcription elongation and tumour suppression. Nature 2014; 508: 263–268.
Chen Z, Yan CT, Dou Y, Viboolsittiseri SS, Wang JH . The role of a newly identified SET domain-containing protein, SETD3, in oncogenesis. Haematologica 2013; 98: 739–743.
Jeyaratnam DC, Baduin BS, Hansen MC, Hansen M, Jorgensen JM, Aggerholm A et al. Delineation of known and new transcript variants of the SETMAR (Metnase) gene and the expression profile in hematologic neoplasms. Exp Hematol 2014; 42: 448–456.
Jankovic M, Feldhahn N, Oliveira TY, Silva IT, Kieffer-Kwon KR, Yamane A et al. 53BP1 alters the landscape of DNA rearrangements and suppresses AID-induced B cell lymphoma. Mol Cell 2013; 49: 623–631.
Bouwman P, Aly A, Escandell JM, Pieterse M, Bartkova J, van der Gulden H et al. 53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers. Nat Struct Mol Biol 2010; 17: 688–695.
Li X, Xu B, Moran MS, Zhao Y, Su P, Haffty BG et al. 53BP1 functions as a tumor suppressor in breast cancer via the inhibition of NF-κB through miR-146a. Carcinogenesis 2012; 33: 2593–2600.
Yang F, Sun L, Li Q, Han X, Lei L, Zhang H et al. SET8 promotes epithelial–mesenchymal transition and confers TWIST dual transcriptional activities. EMBO J 2012; 31: 110–123.
Pogribny IP, Ross SA, Tryndyak VP, Pogribna M, Poirier LA, Karpinets TV . Histone H3 lysine 9 and H4 lysine 20 trimethylation and the expression of Suv4-20h2 and Suv-39h1 histone methyltransferases in hepatocarcinogenesis induced by methyl deficiency in rats. Carcinogenesis 2006; 27: 1180–1186.
Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier–Gorlin syndrome. Nat Genet 2011; 43: 350–355.