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Epigenomics Volume 2, 2010 - Issue 3
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Review

Role of H3K4 Demethylases in Complex Neurodevelopmental Diseases

Christopher Wynder1 McMaster Stem Cell & Cancer Institute, McMaster University, Hamilton, Ontario L8N 3Z5Canada.Correspondence[email protected]
,
Leanne Stalker1 McMaster Stem Cell & Cancer Institute, McMaster University, Hamilton, Ontario L8N 3Z5Canada.;2 Department of Biochemistry & Biomedical sciences, Faculty of Health Sciences, McMaster University, Hamilton, Ontario, L8N 3Z5, Canada
&
Martin L Doughty3 Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD20814, USA
Pages 407-418 | Published online: 02 Jun 2010

Bibliography

  • Levenson JM , SweattJD: Epigenetic mechanisms in memory formation.Nat. Rev. Neurosci.6(2) , 108–118 (2005).
  • Shilatifard A : Chromatin modifications by methylation and ubiquitination: implications in the regulation of gene expression.Annu. Rev. Biochem.75 , 243–269 (2006).
  • Li B , CareyM, WorkmanJL: The role of chromatin during transcription.Cell128(4) , 707–719 (2007).
  • Vermeulen M , MulderKW, DenissovSet al.: Selective anchoring of TFIID to nucleosomes by trimethylation of histone h3 lysine 4.Cell131(1) , 58–69 (2007).
  • Holstege FC , JenningsEG, WyrickJJet al.: Dissecting the regulatory circuitry of a eukaryotic genome.Cell95(5) , 717–728 (1998).
  • Bernstein BE , MikkelsenTS, XieXet al.: A bivalent chromatin structure marks key developmental genes in embryonic stem cells.[see comment].Cell125(2) , 315–326 (2006).
  • Zhao XD , HanX, ChewJLet al.: Whole-genome mapping of histone H3 lys4 and 27 trimethylations reveals distinct genomic compartments in human embryonic stem cells.Cell Stem Cell1(3) , 286–298 (2007).
  • Wang J , HeviS, KurashJKet al.: The lysine demethylase lsd1 (kdm1) is required for maintenance of global DNA methylation.Nat. Genet.41(1) , 125–129 (2009).
  • Wen B , WuH, ShinkaiY, IrizarryRA, FeinbergAP: Large histone h3 lysine 9 dimethylated chromatin blocks distinguish differentiated from embryonic stem cells.Nat. Genet.41(2) , 246–250 (2009).
  • Jorgensen HF , GiadrossiS, CasanovaMet al.: Stem cells primed for action: polycomb repressive complexes restrain the expression of lineage-specific regulators in embryonic stem cells.Cell Cycle5(13) , 1411–1414 (2006).
  • Lee MG , VillaR, TrojerPet al.: Demethylation of H3K27 regulates polycomb recruitment and h2a ubiquitination.Science318(5849) , 447–450 (2007).
  • Burgold T , SpreaficoF, De Santa F et al.: The histone H3 lysine 27-specific demethylase jmjd3 is required for neural commitment. PLoS One3(8) , E3034 (2008).
  • Milne TA , DouY, MartinME, BrockHW, RoederRG, HessJL: Mll associates specifically with a subset of transcriptionally active target genes.Proc. Natl Acad. Sci. USA102(41) , 14765–14770 (2005).
  • Wang P , LinC, SmithERet al.: Global analysis of H3K4 methylation defines mll family member targets and points to a role for mll1-mediated H3K4 methylation in the regulation of transcriptional initiation by RNA polymerase II.Mol. Cell Biol.29(22) , 6074–6085 (2009).
  • Schneider J , WoodA, LeeJSet al.: Molecular regulation of histone H3 trimethylation by compass and the regulation of gene expression.Mol. Cell19(6) , 849–856 (2005).
  • Hakimi MA , DongY, LaneWS, SpeicherDW, ShiekhattarR: A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes.J. Biol. Chem.278(9) , 7234–7239 (2003).
  • Madsen B , Spencer-DeneB, PoulsomRet al.: Characterisation and developmental expression of mouse plu-1, a homologue of a human nuclear protein (plu-1) which is specifically up-regulated in breast cancer.Gene Expr. Patterns2(3–4) , 275–282 (2002).
  • Iwase S , LanF, BaylissPet al.: The x-linked mental retardation gene smcx/jarid1c defines a family of histone H3 lysine 4 demethylases.Cell128(6) , 1077–1088 (2007).
  • Xu J , DengX, DistecheCM: Sex-specific expression of the X-linked histone demethylase gene jarid1c in brain.PLoS One3(7) , E2553 (2008).
  • Kornberg RD , LorchY: Twenty-five years of the nucleosome, fundamental particle of the eukaryote chromosome.Cell98(3) , 285–294 (1999).
  • Sims RJ 3rd, Nishioka K, Reinberg D: Histone lysine methylation: a signature for chromatin function. Trends Genet.19(11) , 629–639 (2003).
  • Volkel P , AngrandPO: The control of histone lysine methylation in epigenetic regulation.Biochimie89(1) , 1–20 (2007).
  • Kouzarides T : Chromatin modifications and their function.Cell128(4) , 693–705 (2007).
  • Cloos PA , ChristensenJ, AggerK, HelinK: Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease.Genes Dev.22(9) , 1115–1140 (2008).
  • Shi Y , WhetstineJR: Dynamic regulation of histone lysine methylation by demethylases.Mol. Cell25(1) , 1–14 (2007).
  • Szutorisz H , CanzonettaC, GeorgiouA, ChowCM, ToraL, DillonN: Formation of an active tissue-specific chromatin domain initiated by epigenetic marking at the embryonic stem cell stage.Mol. Cell Biol.25(5) , 1804–1820 (2005).
  • Sims RJ 3rd, Millhouse S, Chen CF et al.: Recognition of trimethylated histone h3 lysine 4 facilitates the recruitment of transcription postinitiation factors and pre-mrna splicing. Mol. Cell28(4) , 665–676 (2007).
  • Bernstein BE , MikkelsenTS, XieXet al.: A bivalent chromatin structure marks key developmental genes in embryonic stem cells.Cell125(2) , 315–326 (2006).
  • Margueron R , TrojerP, ReinbergD: The key to development: interpreting the histone code?Curr. Opin. Genet. Dev.15(2) , 163–176 (2005).
  • Robertson AG , BilenkyM, TamAet al.: Genome-wide relationship between histone h3 lysine 4 mono- and tri-methylation and transcription factor binding.Genome Res.18(12) , 1906–1917 (2008).
  • Santos-Rosa H , SchneiderR, BannisterAJet al.: Active genes are tri-methylated at K4 of histone H3.Nature419(6905) , 407–411 (2002).
  • Campos EI , ReinbergD: Histones: annotating chromatin.Annu. Rev. Genet.43 , 559–599 (2009).
  • Pinskaya M , MorillonA: Histone h3 lysine 4 di-methylation: a novel mark for transcriptional fidelity?Epigenetics4(5) , 302–306 (2009).
  • Mikkelsen TS , KuM, JaffeDBet al.: Genome-wide maps of chromatin state in pluripotent and lineage-committed cells.Nature448(7153) , 553–560 (2007).
  • Guenther MG , LevineSS, BoyerLA, JaenischR, YoungRA: A chromatin landmark and transcription initiation at most promoters in human cells.Cell130(1) , 77–88 (2007).
  • Doyle JP , DoughertyJD, HeimanMet al.: Application of a translational profiling approach for the comparative analysis of CNS cell types.Cell135(4) , 749–762 (2008).
  • Heiman M , SchaeferA, GongSet al.: A translational profiling approach for the molecular characterization of CNS cell types.Cell135(4) , 738–748 (2008).
  • Shi Y , LanF, MatsonCet al.: Histone demethylation mediated by the nuclear amine oxidase homolog lsd1.Cell119(7) , 941–953 (2004).
  • Wang J , ScullyK, ZhuXet al.: Opposing lsd1 complexes function in developmental gene activation and repression programmes.Nature446(7138) , 882–887 (2007).
  • Katoh-Semba R , WakakoR, KomoriTet al.: Age-related changes in BDNF protein levels in human serum: differences between autism cases and normal controls.Int. J. Dev. Neurosci.25(6) , 367–372 (2007).
  • Dyck BA , SkoblenickKJ, CastellanoJM, KiK, ThomasN, MishraRK: Behavioral abnormalities in synapsin II knockout mice implicate a causal factor in schizophrenia.Synapse (New York, NY)63(8) , 662–672 (2009).
  • Sondhi S , CastellanoJM, ChongVZet al.: CDNA array reveals increased expression of glucose-dependent insulinotropic polypeptide following chronic clozapine treatment: role in atypical antipsychotic drug-induced adverse metabolic effects.Pharmacogenomics J.6(2) , 131–140 (2006).
  • Ciccone DN , SuH, HeviSet al.: Kdm1b is a histone H3K4 demethylase required to establish maternal genomic imprints.Nature461(7262) , 415–418 (2009).
  • Lalande M , CalcianoMA: Molecular epigenetics of angelman syndrome.Cell Mol. Life Sci.64(7–8) , 947–960 (2007).
  • Lee MG , WynderC, SchmidtDM, MccaffertyDG, ShiekhattarR: Histone H3 lysine 4 demethylation is a target of nonselective antidepressive medications.Chem. Biol.13(6) , 563–567 (2006).
  • Klose RJ , KallinEM, ZhangY: Jmjc-domain-containing proteins and histone demethylation.Nat. Rev. Genet.7(9) , 715–727 (2006).
  • Seward DJ , CubberleyG, KimSet al.: Demethylation of trimethylated histone H3 lys4 in vivo by jarid1 JmjC proteins.Nat. Struct. Mol. Biol.14(3) , 240–242 (2007).
  • Tsai MH , CookJA, ChandramouliGVet al.: Gene expression profiling of breast, prostate, and glioma cells following single versus fractionated doses of radiation.Cancer Res.67(8) , 3845–3852 (2007).
  • Trewick SC , MclaughlinPJ, AllshireRC: Methylation: lost in hydroxylation?EMBO Rep.6(4) , 315–320 (2005).
  • Tsukada Y , FangJ, Erdjument-BromageHet al.: Histone demethylation by a family of JmjC domain-containing proteins.Nature439(7078) , 811–816 (2006).
  • Yamane K , TateishiK, KloseRJet al.: Plu-1 is an h3k4 demethylase involved in transcriptional repression and breast cancer cell proliferation.Mol. Cell25(6) , 801–812 (2007).
  • Secombe J , EisenmanRN: The function and regulation of the jarid1 family of histone h3 lysine 4 demethylases: the myc connection.Cell Cycle6(11) , 1324–1328 (2007).
  • Klose RJ , YanQ, TothovaZet al.: The retinoblastoma binding protein rbp2 is an h3k4 demethylase.Cell128(5) , 889–900 (2007).
  • Kortschak RD , TuckerPW, SaintR: Arid proteins come in from the desert.Trends Biochem. Sci.25(6) , 294–299 (2000).
  • Wysocka J , SwigutT, XiaoHet al.: A phd finger of nurf couples histone H3 lysine 4 trimethylation with chromatin remodelling.Nature442(7098) , 86–90 (2006).
  • Mellor J : It takes a phd to read the histone code.Cell126(1) , 22–24 (2006).
  • Lu PJ , SundquistK, BaeckstromDet al.: A novel gene (plu-1) containing highly conserved putative DNA/chromatin binding motifs is specifically up-regulated in breast cancer.J. Biol. Chem.274(22) , 15633–15645 (1999).
  • Barrett A , MadsenB, CopierJet al.: Plu-1 nuclear protein, which is upregulated in breast cancer, shows restricted expression in normal human adult tissues: a new cancer/testis antigen?Int. J. Cancer101(6) , 581–588 (2002).
  • Barrett A , SantangeloS, TanKet al.: Breast cancer associated transcriptional repressor plu-1/jarid1b interacts directly with histone deacetylases.Int. J. Cancer121(2) , 265–275 (2007).
  • Dey BK , StalkerL, SchnerchA, BhatiaM, Taylor-PapidimtriouJ, WynderC: The histone demethylase kdm5b/jarid1b plays a role in cell fate decisions by blocking terminal differentiation.Mol. Cell Biol.28(17) , 5312–5327 (2008).
  • Tan K , ShawAL, MadsenB, JensenK, Taylor-PapadimitriouJ, FreemontPS: Human plu-1 has transcriptional repression properties and interacts with the developmental transcription factors bf-1 and pax9.J. Biol. Chem.278(23) , 20507–20513 (2003).
  • Ariani F , HayekG, RondinellaDet al.: Foxg1 is responsible for the congenital variant of rett syndrome.Am. J. Hum. Genet.83(1) , 89–93 (2008).
  • Mencarelli M , Spanhol-RossetoA, ArtusoRet al.: Novel foxg1 mutations associated with the congenital variant of rett syndrome.J. Med. Genet.47(1) , 49–53 (2009).
  • Papa FT , MencarelliMA, CaselliRet al.: A 3 mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and rett-like features.Am. J. Med. Genet.146A(15) , 1994–1998 (2008).
  • Shoichet SA , KundeSA, ViertelPet al.: Haploinsufficiency of novel foxg1b variants in a patient with severe mental retardation, brain malformations and microcephaly.Hum. Genet.117(6) , 536–544 (2005).
  • Wu J , EllisonJ, SalidoE, YenP, MohandasT, ShapiroLJ: Isolation and characterization of xe169, a novel human gene that escapes X-inactivation.Hum. Mol. Genet.3(1) , 153–160 (1994).
  • Wu J , SalidoEC, YenPHet al.: The murine xe169 gene escapes X-inactivation like its human homologue.Nat. Genet.7(4) , 491–496 (1994).
  • Kramer JM , van Bokhoven H: Genetic and epigenetic defects in mental retardation. Int. J. Biochem. Cell Biol.41(1) , 96–107 (2009).
  • Ballas N , MandelG: The many faces of rest oversee epigenetic programming of neuronal genes.Curr. Opin. Neurobiol.15(5) , 500–506 (2005).
  • Tahiliani M , MeiP, FangRet al.: The histone H3K4 demethylase smcx links rest target genes to x-linked mental retardation.Nature447(7144) , 601–605 (2007).
  • Jensen LR , AmendeM, GurokUet al.: Mutations in the jarid1c gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.Am. J. Hum. Genet.76(2) , 227–236 (2005).
  • Tzschach A , LenznerS, MoserBet al.: Novel jarid1c/smcx mutations in patients with x-linked mental retardation.Hum. Mutat.27(4) , 389 (2006).
  • Santos C , Rodriguez-RevengaL, MadrigalI, BadenasC, PinedaM, MilaM: A novel mutation in jarid1c gene associated with mental retardation.Eur. J. Hum. Genet.14(5) , 583–586 (2006).
  • Adegbola A , GaoH, SommerS, BrowningM: A novel mutation in jarid1c/smcx in a patient with autism spectrum disorder (asd).Am. J. Med. Genet. A146A(4) , 505–511 (2008).
  • Wang W , MeadowsLR, Den Haan JM et al.: Human h-y: a male-specific histocompatibility antigen derived from the smcy protein. Science269(5230) , 1588–1590 (1995).
  • Scott DM , EhrmannIE, EllisPSet al.: Identification of a mouse male-specific transplantation antigen, H-Y.Nature376(6542) , 695–698 (1995).
  • Lee MG , NormanJ, ShilatifardA, ShiekhattarR: Physical and functional association of a trimethyl H3K4 demethylase and ring6a/mblr, a polycomb-like protein.Cell128(5) , 877–887 (2007).
  • Christensen J , AggerK, CloosPAet al.: Rbp2 belongs to a family of demethylases, specific for tri- and dimethylated lysine 4 on histone 3.Cell128(6) , 1063–1076 (2007).
  • Akasaka T , TakahashiN, SuzukiM, KosekiH, BodmerR, KogaH: Mblr, a new ring finger protein resembling mammalian polycomb gene products, is regulated by cell cycle-dependent phosphorylation.Genes Cells7(8) , 835–850 (2002).
  • Ogawa H , IshiguroK, GaubatzS, LivingstonDM, NakataniY: A complex with chromatin modifiers that occupies e2f- and myc-responsive genes in G0 cells.Science296(5570) , 1132–1136 (2002).
  • Benayed R , GharaniN, RossmanIet al.: Support for the homeobox transcription factor gene engrailed 2 as an autism spectrum disorder susceptibility locus.Am. J. Hum. Genet.77(5) , 851–868 (2005).
  • Titomanlio L , PierriNB, RomanoAet al.: Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1..Am. J. Med. Genet.136(2) , 198–200 (2005).
  • Akbarian S , HuangHS: Epigenetic regulation in human brain-focus on histone lysine methylation.Biol. Psychiatry65(3) , 198–203 (2009).
  • Hakimi MA , BocharDA, ChenowethJ, LaneWS, MandelG, ShiekhattarR: A CORE–BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes.Proc. Natl Acad. Sci. USA99(11) , 7420–7425 (2002).
  • Lee MG , WynderC, BocharDA, HakimiMA, CoochN, ShiekhattarR: Functional interplay between histone demethylase and deacetylase enzymes.Mol. Cell. Biol.26(17) , 6395–6402 (2006).
  • Ooi SK , QiuC, BernsteinEet al.: Dnmt3l connects unmethylated lysine 4 of histone h3 to de novo methylation of DNA.Nature448(7154) , 714–717 (2007).
  • Ng HH , BirdA: DNA methylation and chromatin modification.Curr. Opin. Genet. Dev.9(2) , 158–163 (1999).
  • Moretti P , ZoghbiHY: Mecp2 dysfunction in rett syndrome and related disorders.Curr. Opin. Genet. Dev.16(3) , 276–281 (2006).
  • Urdinguio RG , Lopez-SerraL, Lopez-NievaPet al.: MECP2-null mice provide new neuronal targets for rett syndrome.PLoS One3(11) , E3669 (2008).
  • Meaney MJ , SzyfM, SecklJR: Epigenetic mechanisms of perinatal programming of hypothalamic-pituitary-adrenal function and health.Trends Mol. Med.13(7) , 269–277 (2007).
  • Cameron NM , ShahrokhD, Del Corpo A et al.: Epigenetic programming of phenotypic variations in reproductive strategies in the rat through maternal care. J. Neuroendocrinol.20(6) , 795–801 (2008).
  • Weaver IC , D‘alessioAC, BrownSEet al.: The transcription factor nerve growth factor-inducible protein a mediates epigenetic programming: altering epigenetic marks by immediate-early genes.J. Neurosci27(7) , 1756–1768 (2007).
  • Champagne FA , WeaverIC, DiorioJ, DymovS, SzyfM, MeaneyMJ: Maternal care associated with methylation of the estrogen receptor-α1b promoter and estrogen receptor-α expression in the medial preoptic area of female offspring.Endocrinology147(6) , 2909–2915 (2006).
  • Mcgowan PO , SasakiA, D‘alessioACet al.: Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse.Nat. Neurosci.12(3) , 342–348 (2009).
  • Fish EW , ShahrokhD, BagotRet al.: Epigenetic programming of stress responses through variations in maternal care.Ann. NY Acad. Sci.1036 , 167–180 (2004).
  • Szyf M , McgowanP, MeaneyMJ: The social environment and the epigenome.Environ. Mol. Mutagen.49(1) , 46–60 (2008).
  • Wynder C , HakimiMA, EpsteinJA, ShilatifardA, ShiekhattarR: Recruitment of MLL by HMG-domain protein ibraf promotes neural differentiation.Nat. Cell Biol.7(11) , 1113–1117 (2005).
  • Carling T , KimKC, YangXH, GuJ, ZhangXK, HuangS: A histone methyltransferase is required for maximal response to female sex hormones.Mol. Cell Biol.24(16) , 7032–7042 (2004).
  • Hu Q , KwonYS, NunezEet al.: Enhancing nuclear receptor-induced transcription requires nuclear motor and LSD1-dependent gene networking in interchromatin granules.Proc. Natl Acad. Sci. USA105(49) , 19199–19204 (2008).
  • Ooi L , WoodIC: Regulation of gene expression in the nervous system.Biochem. J.414(3) , 327–341 (2008).
  • Abel T , ZukinRS: Epigenetic targets of HDAC inhibition in neurodegenerative and psychiatric disorders.Curr. Opin. Pharmacol.8(1) , 57–64 (2008).
  • Seong IS , WodaJM, SongJJet al.: Huntingtin facilitates polycomb repressive complex 2.Hum. Mol. Genet.19(4) , 573–583 (2009).
  • Urdinguio RG , PinoI, RoperoS, FragaMF, EstellerM: Histone H3 and H4 modification profiles in a rett syndrome mouse model.Epigenetics2(1) , 11–14 (2007).
  • Shahbazian M , YoungJ, Yuva-PaylorLet al.: Mice with truncated MECP2 recapitulate many rett syndrome features and display hyperacetylation of histone h3.Neuron35(2) , 243–254 (2002).
  • Samaco RC , HogartA, LasalleJM: Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.Hum. Mol. Genet.14(4) , 483–492 (2005).
  • Ballas N , GrunseichC, LuDD, SpehJC, MandelG: Rest and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis.Cell121(4) , 645–657 (2005).
  • Courchesne E , PierceK, SchumannCMet al.: Mapping early brain development in autism.Neuron56(2) , 399–413 (2007).
  • Freitag CM , LudersE, HulstHEet al.: Total brain volume and corpus callosum size in medication-naive adolescents and young adults with autism spectrum disorder.Biol. Psychiatry66(4) , 316–319 (2009).
  • Lombardo MV , ChakrabartiB, Baron-CohenS: The amygdala in autism: not adapting to faces?Am. J. Psychiatry166(4) , 395–397 (2009).
  • Bahi-Buisson N , NectouxJ, GirardBet al.: Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.Neurogenetics11(2) , 241–249 (2009).
  • Lee MG , WynderC, SchmidtDM, MccaffertyDG, ShiekhattarR: Histone H3 lysine 4 demethylation is a target of nonselective antidepressive medications.Chem. Biol.13(6) , 563–567 (2006).
  • Huang Y , GreeneE, Murray Stewart T et al.: Inhibition of lysine-specific demethylase 1 by polyamine analogues results in reexpression of aberrantly silenced genes. Proc. Natl Acad. Sci. USA104(19) , 8023–8028 (2007).

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