Skip to main content
SpringerLink
Log in

The Role of Histone Demethylases in Disease

  • Chapter
  • First Online:
Epigenetic Aspects of Chronic Diseases

Abstract

Epigenetic factors modulate cellular differentiation by altering histone structure and changing DNA methylation.9,97 These processes package genes into “open and accessible” or “closed and inaccessible” chromatin states in a cell type–specific manner.9,52 Chromatin structure shapes gene-expression programs in a variety of cell types by regulating access of transcription factors to specific regions. This permits different cells to maintain characteristic transcriptional programs that lead to specialized functions, even though all cells contain the same DNA-code.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 89.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Adegbola A, Gao H, Sommer S, Browning M. A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD). Am J Med Genet. 2008;146A:505-511.

    Article  PubMed  CAS  Google Scholar 

  2. Agger K, Cloos PA, Christensen J, et al. UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development. Nature. 2007;449:731-734.

    Article  PubMed  CAS  Google Scholar 

  3. Agger K, Cloos PA, Rudkjaer L, et al. The H3K27me3 demethylase JMJD3 contributes to the activation of the INK4A-ARF locus in response to oncogene- and stress-induced senescence. Genes Dev. 2009;23:1171-1176.

    Article  PubMed  CAS  Google Scholar 

  4. Allis CD, Berger SL, Cote J, et al. New nomenclature for chromatin-modifying enzymes. Cell. 2007;131:633-636.

    Article  PubMed  CAS  Google Scholar 

  5. Ameyar-Zazoua M, Wisniewska MB, Bakiri L, Wagner EF, Yaniv M, Weitzman JB. AP-1 dimers regulate transcription of the p14/p19ARF tumor suppressor gene. Oncogene. 2005;24:2298-2306.

    Article  PubMed  CAS  Google Scholar 

  6. Barradas M, Anderton E, Acosta JC, et al. Histone demethylase JMJD3 contributes to epigenetic control of INK4a/ARF by oncogenic RAS. Genes Dev. 2009;23:1177-1182.

    Article  PubMed  CAS  Google Scholar 

  7. Barrett A, Madsen B, Copier J, et 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 Cancer. 2002;101:581-588.

    Article  PubMed  CAS  Google Scholar 

  8. Beaudoin GM 3rd, Sisk JM, Coulombe PA, Thompson CC. Hairless triggers reactivation of hair growth by promoting Wnt signaling. Proc Natl Acad Sci USA. 2005;102:14653-14658.

    Article  PubMed  CAS  Google Scholar 

  9. Berger SL. The complex language of chromatin regulation during transcription. Nature. 2007;447:407-412.

    Article  PubMed  CAS  Google Scholar 

  10. Blair IP, Dawkins JL, Nicholson GA. Fine mapping of the hereditary sensory neuropathy type I locus on chromosome 9q22.1–>q22.3: exclusion of GAS1 and XPA. Cytogenet Cell Genet. 1997;78:140-144.

    Article  PubMed  CAS  Google Scholar 

  11. Bodmer D, Schepens M, Eleveld MJ, Schoenmakers EF, Geurts van Kessel A. Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21). Genes Chromosomes Cancer. 2003;38:107-116.

    Article  PubMed  CAS  Google Scholar 

  12. Boyer LA, Plath K, Zeitlinger J, et al. Polycomb complexes repress developmental regulators in murine embryonic stem cells. Nature. 2006;441:349-353.

    Article  PubMed  CAS  Google Scholar 

  13. 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;20:1123-1136.

    Article  PubMed  CAS  Google Scholar 

  14. Bracken AP, Kleine-Kohlbrecher D, Dietrich N, et al. The Polycomb group proteins bind throughout the INK4A-ARF locus and are disassociated in senescent cells. Genes Dev. 2007;21:525-530.

    Article  PubMed  CAS  Google Scholar 

  15. Braig M, Lee S, Loddenkemper C, et al. Oncogene-induced senescence as an initial barrier in lymphoma development. Nature. 2005;436:660-665.

    Article  PubMed  CAS  Google Scholar 

  16. Brooke HC. Hairless mice. J Hered. 1926;17:173-174.

    Google Scholar 

  17. Brown CJ, Miller AP, Carrel L, Rupert JL, Davies KE, Willard HF. The DXS423E gene in Xp11.21 escapes X chromosome inactivation. Hum Mol Genet. 1995;4:251-255.

    Article  PubMed  CAS  Google Scholar 

  18. Cachon-Gonzalez MB, Fenner S, Coffin JM, Moran C, Best S, Stoye JP. Structure and expression of the hairless gene of mice. Proc Natl Acad Sci USA. 1994;91:7717-7721.

    Article  PubMed  CAS  Google Scholar 

  19. Castermans D, Vermeesch JR, Fryns JP, et al. Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet. 2007;15:422-431.

    Article  PubMed  CAS  Google Scholar 

  20. Cho YW, Hong T, Hong S, et al. PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. J Biol Chem. 2007;282:20395-20406.

    Article  PubMed  CAS  Google Scholar 

  21. Christensen J, Agger K, Cloos PA, et al. RBP2 belongs to a family of demethylases, specific for tri-and dimethylated lysine 4 on histone 3. Cell. 2007;128:1063-1076.

    Article  PubMed  CAS  Google Scholar 

  22. Cloos PA, Christensen J, Agger K, et al. The putative oncogene GASC1 demethylates tri- and dimethylated lysine 9 on histone H3. Nature. 2006;442:307-311.

    Article  PubMed  CAS  Google Scholar 

  23. Cloos PA, Christensen J, Agger K, Helin K. Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease. Genes Dev. 2008;22:1115-1140.

    Article  PubMed  CAS  Google Scholar 

  24. Collado M, Gil J, Efeyan A, et al. Tumour biology: senescence in premalignant tumours. Nature. 2005;436:642.

    Article  PubMed  CAS  Google Scholar 

  25. Cuthbert GL, Daujat S, Snowden AW, et al. Histone deimination antagonizes arginine methylation. Cell. 2004;118:545-553.

    Article  PubMed  CAS  Google Scholar 

  26. Dontu G, Jackson KW, McNicholas E, Kawamura MJ, Abdallah WM, Wicha MS. Role of Notch signaling in cell-fate determination of human mammary stem/progenitor cells. Breast Cancer Res. 2004;6:R605-R615.

    Article  PubMed  CAS  Google Scholar 

  27. Farnie G, Clarke RB. Mammary stem cells and breast cancer – role of Notch signalling. Stem Cell Rev. 2007;3:169-175.

    Article  PubMed  CAS  Google Scholar 

  28. Forneris F, Binda C, Dall’Aglio A, Fraaije MW, Battaglioli E, Mattevi A. A highly specific mechanism of histone H3-K4 recognition by histone demethylase LSD1. J Biol Chem. 2006;281:35289-35295.

    Article  PubMed  CAS  Google Scholar 

  29. Forneris F, Binda C, Vanoni MA, Battaglioli E, Mattevi A. Human histone demethylase LSD1 reads the histone code. J Biol Chem. 2005;280:41360-41365.

    Article  PubMed  CAS  Google Scholar 

  30. Forneris F, Binda C, Vanoni MA, Mattevi A, Battaglioli E. Histone demethylation catalysed by LSD1 is a flavin-dependent oxidative process. FEBS Lett. 2005;579:2203-2207.

    Article  PubMed  CAS  Google Scholar 

  31. Frescas D, Guardavaccaro D, Bassermann F, Koyama-Nasu R, Pagano M. JHDM1B/FBXL10 is a nucleolar protein that represses transcription of ribosomal RNA genes. Nature. 2007;450:309-313.

    Article  PubMed  CAS  Google Scholar 

  32. Geli J, Nord B, Frisk T, et al. Deletions and altered expression of the RIZ1 tumour suppressor gene in 1p36 in pheochromocytomas and abdominal paragangliomas. Int J Oncol. 2005;26:1385-1391.

    PubMed  CAS  Google Scholar 

  33. Goudie DR, Yuille MA, Leversha MA, et al. Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry. Nat Genet. 1993;3:165-169.

    Article  PubMed  CAS  Google Scholar 

  34. Guccione E, Bassi C, Casadio F, et al. Methylation of histone H3R2 by PRMT6 and H3K4 by an MLL complex are mutually exclusive. Nature. 2007;449:933-937.

    Article  PubMed  CAS  Google Scholar 

  35. Han W, Jung EM, Cho J, et al. DNA copy number alterations and expression of relevant genes in triple-negative breast cancer. Genes Chromosomes Cancer. 2008;47:490-499.

    Article  PubMed  CAS  Google Scholar 

  36. He J, Kallin EM, Tsukada Y-I, Zhang Y. The H3K36 demethylase Jhdm1b/Kdm2b regulates cell proliferation and senescence through p15Ink4b. Nat Struct Mol Biol. 2008;15(11):1169-1175.

    Article  PubMed  CAS  Google Scholar 

  37. Hoog C, Schalling M, Grunder-Brundell E, Daneholt B. Analysis of a murine male germ cell-specific transcript that encodes a putative zinc finger protein. Mol Reprod Dev. 1991;30:173-181.

    Article  PubMed  CAS  Google Scholar 

  38. Hu C, Dievart A, Lupien M, Calvo E, Tremblay G, Jolicoeur P. Overexpression of activated murine Notch1 and Notch3 in transgenic mice blocks mammary gland development and induces mammary tumors. Am J Pathol. 2006;168:973-990.

    Article  PubMed  CAS  Google Scholar 

  39. Inagaki T, Tachibana M, Magoori K, et al. Obesity and metabolic syndrome in histone demethylase JHDM2a-deficient mice. Genes Cells. 2009;14:991-1001.

    Article  PubMed  CAS  Google Scholar 

  40. Ishimura A, Terashima M, Kimura H, et al. Jmjd2c histone demethylase enhances the expression of Mdm2 oncogene. Biochem Biophys Res Commun. 2009;389:366-371.

    Article  PubMed  CAS  Google Scholar 

  41. Issaeva I, Zonis Y, Rozovskaia 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.

    Article  PubMed  CAS  Google Scholar 

  42. Iwase S, Lan F, Bayliss P, et al. The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases. Cell. 2007;128:1077-1088.

    Article  PubMed  CAS  Google Scholar 

  43. Jensen LR, Amende M, Gurok U, 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.

    Article  PubMed  CAS  Google Scholar 

  44. Johnson R, Spiegelman B, Hanahan D, Wisdom R. Cellular transformation and malignancy induced by ras require c-jun. Mol Cell Biol. 1996;16:4504-4511.

    PubMed  CAS  Google Scholar 

  45. Jung J, Kim TG, Lyons GE, Kim HR, Lee Y. Jumonji regulates cardiomyocyte proliferation via interaction with retinoblastoma protein. J Biol Chem. 2005;280:30916-30923.

    Article  PubMed  CAS  Google Scholar 

  46. Jung J, Mysliwiec MR, Lee Y. Roles of JUMONJI in mouse embryonic development. Dev Dyn. 2005;232:21-32.

    Article  PubMed  CAS  Google Scholar 

  47. Kim TG, Chen J, Sadoshima J, Lee Y. Jumonji represses atrial natriuretic factor gene expression by inhibiting transcriptional activities of cardiac transcription factors. Mol Cell Biol. 2004;24:10151-10160.

    Article  PubMed  CAS  Google Scholar 

  48. Kirmizis A, Santos-Rosa H, Penkett CJ, et al. Arginine methylation at histone H3R2 controls deposition of H3K4 trimethylation. Nature. 2007;449:928-932.

    Article  PubMed  CAS  Google Scholar 

  49. Kleine-Kohlbrecher D, Christensen J, Vandamme J, et al. A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation. Mol Cell. 2010;38(2):165-178.

    Article  PubMed  CAS  Google Scholar 

  50. Klose RJ, Yamane K, Bae Y, et al. The transcriptional repressor JHDM3A demethylates trimethyl histone H3 lysine 9 and lysine 36. Nature. 2006;442:312-316.

    Article  PubMed  CAS  Google Scholar 

  51. Koivisto AM, Ala-Mello S, Lemmela S, Komu HA, Rautio J, Jarvela I. Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate. Clin Genet. 2007;72:145-149.

    Article  PubMed  CAS  Google Scholar 

  52. Kouzarides T. Chromatin modifications and their function. Cell. 2007;128:693-705.

    Article  PubMed  CAS  Google Scholar 

  53. Koyama-Nasu R, David G, Tanese N. The F-box protein Fbl10 is a novel transcriptional repressor of c-Jun. Nat Cell Biol. 2007;9:1074-1080.

    Article  PubMed  CAS  Google Scholar 

  54. Lal G, Padmanabha L, Smith BJ, et al. RIZ1 is epigenetically inactivated by promoter hypermethylation in thyroid carcinoma. Cancer. 2006;107:2752-2759.

    Article  PubMed  CAS  Google Scholar 

  55. Lan F, Bayliss PE, Rinn JL, et al. A histone H3 lysine 27 demethylase regulates animal posterior development. Nature. 2007;449:689-694.

    Article  PubMed  CAS  Google Scholar 

  56. Laumonnier F, Holbert S, Ronce N, et al. Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate. J Med Genet. 2005;42:780-786.

    Article  PubMed  CAS  Google Scholar 

  57. Lazzerini Denchi E, Attwooll C, Pasini D, Helin K. Deregulated E2F activity induces hyperplasia and senescence-like features in the mouse pituitary gland. Mol Cell Biol. 2005;25:2660-2672.

    Article  PubMed  CAS  Google Scholar 

  58. Lee TI, Jenner RG, Boyer LA, et al. Control of developmental regulators by polycomb in human embryonic stem cells. Cell. 2006;125:301-313.

    Article  PubMed  CAS  Google Scholar 

  59. Lee Y, Song AJ, Baker R, Micales B, Conway SJ, Lyons GE. Jumonji, a nuclear protein that is necessary for normal heart development. Circ Res. 2000;86:932-938.

    Article  PubMed  CAS  Google Scholar 

  60. Li G, Margueron R, Ku M, Chambon P, Bernstein BE, Reinberg D. Jarid2 and PRC2, partners in regulating gene expression. Genes Dev. 2010;24:368-380.

    Article  PubMed  CAS  Google Scholar 

  61. Liu C, Gilmont RR, Benndorf R, Welsh MJ. Identification and characterization of a novel protein from Sertoli cells, PASS1, that associates with mammalian small stress protein hsp27. J Biol Chem. 2000;275:18724-18731.

    Article  PubMed  CAS  Google Scholar 

  62. Liu G, Bollig-Fischer A, Kreike B, et al. Genomic amplification and oncogenic properties of the GASC1 histone demethylase gene in breast cancer. Oncogene. 2009;28:4491-4500.

    Article  PubMed  CAS  Google Scholar 

  63. Loenarz C, Ge W, Coleman ML, et al. PHF8 a gene associated with cleft lip/palate and mental retardation encodes for an N(epsilon)dimethyllysine demethylase. Hum Mol Genet. 2010;19:217-222.

    Article  PubMed  CAS  Google Scholar 

  64. Loh YH, Zhang W, Chen X, George J, Ng HH. Jmjd1a and Jmjd2c histone H3 Lys 9 demethylases regulate self-renewal in embryonic stem cells. Genes Dev. 2007;21:2545-2557.

    Article  PubMed  CAS  Google Scholar 

  65. Lu PJ, Sundquist K, Baeckstrom D, et al. 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.

    Article  PubMed  CAS  Google Scholar 

  66. Maherali N, Hochedlinger K. Guidelines and techniques for the generation of induced pluripotent stem cells. Cell Stem Cell. 2008;3:595-605.

    Article  PubMed  CAS  Google Scholar 

  67. Malloy PJ, Wang J, Jensen K, Feldman D. Modulation of vitamin d receptor activity by the corepressor hairless: differential effects of hairless isoforms. Endocrinology. 2009;150:4950-4957.

    Article  PubMed  CAS  Google Scholar 

  68. Metzger E, Wissmann M, Yin N, et al. LSD1 demethylates repressive histone marks to promote androgen-receptor-dependent transcription. Nature. 2005;437:436-439.

    PubMed  CAS  Google Scholar 

  69. Metzger E, Yin N, Wissmann M, et al. Phosphorylation of histone H3 at threonine 11 establishes a novel chromatin mark for transcriptional regulation. Nat Cell Biol. 2008;10:53-60.

    Article  PubMed  CAS  Google Scholar 

  70. Michaloglou C, Vredeveld LC, Soengas MS, et al. BRAFE600-associated senescence-like cell cycle arrest of human naevi. Nature. 2005;436:720-724.

    Article  PubMed  CAS  Google Scholar 

  71. Narita M, Nunez S, Heard E, et al. Rb-mediated heterochromatin formation and silencing of E2F target genes during cellular senescence. Cell. 2003;113:703-716.

    Article  PubMed  CAS  Google Scholar 

  72. Nicholson GA, Dawkins JL, Blair IP, et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet. 1996;13:101-104.

    Article  PubMed  CAS  Google Scholar 

  73. Nigro JM, Baker SJ, Preisinger AC, et al. Mutations in the p53 gene occur in diverse human tumour types. Nature. 1989;342:705-708.

    Article  PubMed  CAS  Google Scholar 

  74. Northcott PA, Nakahara Y, Wu X, et al. Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. Nat Genet. 2009;41:465-472.

    Article  PubMed  CAS  Google Scholar 

  75. Ohguchi H, Tanaka T, Uchida A, et al. Hepatocyte nuclear factor 4alpha contributes to thyroid hormone homeostasis by cooperatively regulating the type 1 iodothyronine deiodinase gene with GATA4 and Kruppel-like transcription factor 9. Mol Cell Biol. 2008;28:3917-3931.

    Article  PubMed  CAS  Google Scholar 

  76. 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.

    Article  PubMed  CAS  Google Scholar 

  77. Panteleyev AA, Botchkareva NV, Sundberg JP, Christiano AM, Paus R. The role of the hairless (hr) gene in the regulation of hair follicle catagen transformation. Am J Pathol. 1999;155:159-171.

    Article  PubMed  CAS  Google Scholar 

  78. Pasini D, Cloos PA, Walfridsson J, et al. JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells. Nature. 2010;464:306-310.

    Article  PubMed  CAS  Google Scholar 

  79. Patel SR, Kim D, Levitan I, Dressler GR. The BRCT-domain containing protein PTIP links PAX2 to a histone H3, lysine 4 methyltransferase complex. Dev Cell. 2007;13:580-592.

    Article  PubMed  CAS  Google Scholar 

  80. Pedrosa E, Ye K, Nolan KA, et al. Positive association of schizophrenia to JARID2 gene. Am J Med Genet B Neuropsychiatr Genet. 2007;144:45-51.

    Google Scholar 

  81. Peng JC, Valouev A, Swigut T, et al. Jarid2/ Jumonji coordinates control of PRC2 enzymatic activity and target gene occupancy in pluripotent cells. Cell. 2009;139:1290-1302.

    Article  PubMed  Google Scholar 

  82. Peters AH, O’Carroll D, Scherthan H, et al. Loss of the Suv39h histone methyltransferases impairs mammalian heterochromatin and genome stability. Cell. 2001;107:323-337.

    Article  PubMed  CAS  Google Scholar 

  83. Pfau R et al. Members of a family of JmjC domain-containing oncoproteins immortalize embryonic fibroblasts via a JmjC domain-dependent process. Proc Natl Acad Sci U S A. 2008;105:1907-1912.

    Article  PubMed  CAS  Google Scholar 

  84. Poetsch M, Dittberner T, Woenckhaus C. Frameshift mutations of RIZ, but no point mutations in RIZ1 exons in malignant melanomas with deletions in 1p36. Oncogene. 2002;21:3038-3042.

    Article  PubMed  CAS  Google Scholar 

  85. Politi K, Feirt N, Kitajewski J. Notch in mammary gland development and breast cancer. Semin Cancer Biol. 2004;14:341-347.

    Article  PubMed  CAS  Google Scholar 

  86. Pothof J, van Haaften G, Thijssen K, et al. Identification of genes that protect the C. elegans genome against mutations by genome-wide RNAi. Genes Dev. 2003;17:443-448.

    Article  PubMed  CAS  Google Scholar 

  87. Potter GB, Beaudoin GM 3rd, DeRenzo CL, Zarach JM, Chen SH, Thompson CC. The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor. Genes Dev. 2001;15:2687-2701.

    Article  PubMed  CAS  Google Scholar 

  88. Rizzo P, Osipo C, Foreman K, Golde T, Osborne B, Miele L. Rational targeting of Notch signaling in cancer. Oncogene. 2008;27:5124-5131.

    Article  PubMed  CAS  Google Scholar 

  89. Sansone P, Storci G, Giovannini C, et al. p66Shc/Notch-3 interplay controls self-renewal and hypoxia survival in human stem/progenitor cells of the mammary gland expanded in vitro as mammospheres. Stem Cells. 2007;25:807-815.

    Article  PubMed  CAS  Google Scholar 

  90. Santos C, Rodriguez-Revenga L, Madrigal I, Badenas C, Pineda M, Mila M. A novel mutation in JARID1C gene associated with mental retardation. Eur J Hum Genet. 2006;14:583-586.

    Article  PubMed  CAS  Google Scholar 

  91. Sharma SV, Lee DY, Li B, et al. A chromatin-mediated reversible drug-tolerant state in cancer cell subpopulations. Cell. 2010;141:69-80.

    Article  PubMed  CAS  Google Scholar 

  92. Shen X, Kim W, Fujiwara Y, et al. Jumonji modulates polycomb activity and self-renewal versus differentiation of stem cells. Cell. 2009;139:1303-1314.

    Article  PubMed  Google Scholar 

  93. Shi Y, Lan F, Matson C, et al. Histone demethylation mediated by the nuclear amine oxidase homolog LSD1. Cell. 2004;119:941-953.

    Article  PubMed  CAS  Google Scholar 

  94. Siderius LE, Hamel BC, van Bokhoven H, et al. X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3. Am J Med Genet. 1999;85:216-220.

    Article  PubMed  CAS  Google Scholar 

  95. Steele-Perkins G, Fang W, Yang XH, et al. Tumor formation and inactivation of RIZ1, an Rb-binding member of a nuclear protein methyltransferase superfamily. Genes Dev. 2001;15:2250-2262.

    Article  PubMed  CAS  Google Scholar 

  96. Suzuki T, Minehata K, Akagi K, Jenkins NA, Copeland NG. Tumor suppressor gene identification using retroviral insertional mutagenesis in Blm-deficient mice. Embo J. 2006;25:3422-3431.

    Article  PubMed  CAS  Google Scholar 

  97. Tahiliani M, Koh KP, Shen Y, et al. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine by the MLL partner TET1. Science. 2009;324:930-935.

    Article  PubMed  CAS  Google Scholar 

  98. Tahiliani M, Mei P, Fang R, et al. The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation. Nature. 2007;447:601-605.

    Article  PubMed  CAS  Google Scholar 

  99. Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell. 2006;126:663-676.

    Article  PubMed  CAS  Google Scholar 

  100. Takeuchi T, Kojima M, Nakajima K, Kondo S. jumonji gene is essential for the neurulation and cardiac development of mouse embryos with a C3H/He background. Mech Dev. 1999;86:29-38.

    Article  PubMed  CAS  Google Scholar 

  101. Tateishi K, Okada Y, Kallin EM, Zhang Y. Role of Jhdm2a in regulating metabolic gene expression and obesity resistance. Nature. 2009;458:757-761.

    Article  PubMed  CAS  Google Scholar 

  102. The Jackson Laboratory homepage (http://www.jaxmice.jax.org/strain/000673.html)

  103. The Oncomine homepage (https://www.oncomine.org)

  104. Thompson CC, Sisk JM, Beaudoin GM 3rd. Hairless and Wnt signaling: allies in epithelial stem cell differentiation. Cell Cycle. 2006;5:1913-1917.

    Article  PubMed  CAS  Google Scholar 

  105. Tong Q, Dalgin G, Xu H, Ting CN, Leiden JM, Hotamisligil GS. Function of GATA transcription factors in preadipocyte-adipocyte transition. Science. 2000;290:134-138.

    Article  PubMed  CAS  Google Scholar 

  106. Toyoda M, Shirato H, Nakajima K, et al. Jumonji downregulates cardiac cell proliferation by repressing cyclin D1 expression. Dev Cell. 2003;5:85-97.

    Article  PubMed  CAS  Google Scholar 

  107. Tzschach A, Lenzner S, Moser B, et al. Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Hum Mutat. 2006;27:389.

    Article  PubMed  Google Scholar 

  108. Valk-Lingbeek ME, Bruggeman SW, van Lohuizen M. Stem cells and cancer; the polycomb connection. Cell. 2004;118:409-418.

    Article  PubMed  CAS  Google Scholar 

  109. van Haaften G, Dalgliesh GL, Davies H, et al. Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat Genet. 2009;41:521-523.

    Article  PubMed  CAS  Google Scholar 

  110. van Zutven LJ, Onen E, Velthuizen SC, et al. Identification of NUP98 abnormalities in acute leukemia: JARID1A (12p13) as a new partner gene. Genes Chromosomes Cancer. 2006;45:437-446.

    Article  PubMed  CAS  Google Scholar 

  111. Volcik KA, Zhu H, Finnell RH, Shaw GM, Canfield M, Lammer EJ. Evaluation of the jumonji gene and risk for spina bifida and congenital heart defects. Am J Med Genet A. 2004;126:215-217.

    Article  Google Scholar 

  112. Wang GG, Song J, Wang Z, et al. Haematopoietic malignancies caused by dysregulation of a chromatin-binding PHD finger. Nature. 2009;59:847-851.

    Article  CAS  Google Scholar 

  113. Wang J, Malloy PJ, Feldman D. Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions. J Biol Chem. 2007;282:25231-25239.

    Article  PubMed  CAS  Google Scholar 

  114. Wang Y, Wysocka J, Sayegh J, et al. Human PAD4 regulates histone arginine methylation levels via demethylimination. Science. 2004;306:279-283.

    Article  PubMed  CAS  Google Scholar 

  115. Wang Y, Zhang H, Chen Y, et al. LSD1 is subunit of the NURD complex and targets the metastasis programs in breast cancer. Cell. 2009;138:660-672.

    Article  PubMed  CAS  Google Scholar 

  116. Wen Y, Liu Y, Xu Y, et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009;41:228-233.

    Article  PubMed  CAS  Google Scholar 

  117. Wen H, Li J, Song T, et al. Recognition of histone H3K4 trimethylation by the plant homeodomain of PHF2 modulates histone demethylation. J Biol Chem. 2010;285:9322-9326.

    Article  PubMed  CAS  Google Scholar 

  118. Whetstine JR, Nottke A, Lan F, et al. Reversal of histone lysine trimethylation by the JMJD2 family of histone demethylases. Cell. 2006;125:467-481.

    Article  PubMed  CAS  Google Scholar 

  119. Wissmann M, Yin N, Muller JM, et al. Cooperative demethylation by JMJD2C and LSD1 promotes androgen receptor-dependent gene expression. Nat Cell Biol. 2007;9:347-353.

    Article  PubMed  CAS  Google Scholar 

  120. Xi ZQ, Sun JJ, Wang XF, et al. HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy. Synapse. 2007;61:741-747.

    Article  PubMed  CAS  Google Scholar 

  121. Xu Z, Yu S, Hsu CH, Eguchi J, Rosen ED. The orphan nuclear receptor chicken ovalbumin upstream promoter-transcription factor II is a critical regulator of adipogenesis. Proc Natl Acad Sci USA. 2008;105:2421-2426.

    Article  PubMed  CAS  Google Scholar 

  122. Yamane K, Tateishi K, Klose RJ, et al. PLU-1 is an H3K4 demethylase involved in transcriptional repression and breast cancer cell proliferation. Mol Cell. 2007;25:801-812.

    Article  PubMed  CAS  Google Scholar 

  123. Yamane K, Toumazou C, Tsukada Y, et al. JHDM2A, a JmjC-containing H3K9 demethylase, facilitates transcription activation by androgen receptor. Cell. 2006;125:483-495.

    Article  PubMed  CAS  Google Scholar 

  124. Yang ZQ, Imoto I, Pimkhaokham A, et al. A novel amplicon at 9p23–24 in squamous cell carcinoma of the esophagus that lies proximal to GASC1 and harbors NFIB. Jpn J Cancer Res. 2001;92:423-428.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Biotech Research & Innovation Centre, Copenhagen, Denmark

    Paul Cloos

Authors
  1. Paul Cloos
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Paul Cloos .

Editor information

Editors and Affiliations

  1. , General Hospital, University of Southampton, Southampton, SO16 6YD, United Kingdom

    Helmtrud I. Roach

  2. Health Center, Dept. Pharmacology, University of Connecticut, Farmington Ave. 263, Farmington, 06030-6125, Connecticut, USA

    Felix Bronner

  3. Developmental Origins Health and Disease, University of Southampton, Southampton, SO16 6YD, United Kingdom

    Richard O.C. Oreffo

Rights and permissions

Reprints and permissions

Copyright information

© 2011 Springer London

About this chapter

Cite this chapter

Cloos, P. (2011). The Role of Histone Demethylases in Disease. In: Roach, H., Bronner, F., Oreffo, R. (eds) Epigenetic Aspects of Chronic Diseases. Springer, London. https://doi.org/10.1007/978-1-84882-644-1_5

Download citation

Publish with us

Policies and ethics

Search

Navigation