Epigenetic regulation: Basic concepts and relevance to neurologic disease

Neurology

Volumn 82, Issue 20, 2014, Pages 1833-1840

  Klein, Christopher J ^a   Benarroch, Eduardo E ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DNA METHYLTRANSFERASE 1; DNA METHYLTRANSFERASE 3A; DNA METHYLTRANSFERASE 3B; GUANINE NUCLEOTIDE; HISTONE H1; HISTONE H2A; HISTONE H2B; HISTONE H4; LONG UNTRANSLATED RNA; METHYL CPG BINDING PROTEIN; MICRORNA; PIWI INTERACTING RNA; SMALL INTERFERING RNA; SMALL NUCLEOLAR RNA; SPACER DNA; TRANSCRIPTION FACTOR EZH2; UNTRANSLATED RNA;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; ATRX SYNDROME; BECKWITH WIEDEMANN SYNDROME; CHROMATIN STRUCTURE; CHROMOSOME STRUCTURE; COFFIN LOWRY SYNDROME; CPG ISLAND; DEGENERATIVE DISEASE; DNA METHYLATION; DNA REPAIR; DNA REPLICATION; ENZYME ACTIVITY; EPIGENETICS; FACE MALFORMATION; FRAGILE X SYNDROME; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTONE MODIFICATION; HUMAN; HUNTINGTON CHOREA; INTELLECTUAL IMPAIRMENT; NEUROLOGIC DISEASE; NONHUMAN; NUCLEOSOME; PERCEPTION DEAFNESS; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; RETT SYNDROME; RUBINSTEIN SYNDROME; SENSORY NEUROPATHY; SIGNAL TRANSDUCTION; SILVER RUSSELL SYNDROME; X LINKED MENTAL RETARDATION;

DNA METHYLATION; EPIGENESIS, GENETIC; HUMANS; NERVOUS SYSTEM DISEASES;

EID: 84902160566     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000440     Document Type: Article

References (43)

1. Portela A, Esteller M. Epigenetic modifications and human disease. Nat Biotechnol 2010;28:1057-1068.
2. Lister R, Mukamel EA, Nery JR, et al. Global epigenomic reconfiguration during mammalian brain development. Science 2013;341:1237905.
3. Goll MG, Kirpekar F, Maggert KA, et al. Methylation of tRNAAsp by the DNA methyltransferase homolog Dnmt2. Science 2006;311:395-398.
4. Chen WG, Chang Q, Lin Y, et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 2003;302:885-889.
5. Sharif J, Koseki H. Recruitment of Dnmt1 roles of the SRA protein Np95 (Uhrf1) and other factors. Prog Mol Biol Transl Sci 2011;101:289-310.
6. Bhutani N, Burns DM, Blau HM. DNA demethylation dynamics. Cell 2011;146:866-872.
7. Ruzov A, Tsenkina Y, Serio A, et al. Lineage-specific distribution of high levels of genomic 5-hydroxymethylcytosine in mammalian development. Cell Res 2011;21:1332-1342.
8. Song CX, Yu M, Dai Q, He C. Detection of 5-hydroxymethylcytosine in a combined glycosylation restriction analysis (CGRA) using restriction enzyme Taq(alpha)I. Bioorg Med Chem Lett 2011;21:5075-5077.
9. Ehrlich M, Gama-Sosa MA, Huang LH, et al. Amount and distribution of 5-methylcytosine in human DNA from different types of tissues of cells. Nucleic Acids Res 1982; 10:2709-2721.
10. Bird A, Taggart M, Frommer M, Miller OJ, Macleod D. A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA. Cell 1985;40:91-99.
11. Saxonov S, Berg P, Brutlag DL. A genome-wide analysis of CpG dinucleotides in the human genome distinguishes two distinct classes of promoters. Proc Natl Acad Sci USA 2006;103:1412-1417.
12. Schulz WA, Steinhoff C, Florl AR. Methylation of endogenous human retroelements in health and disease. Curr Top Microbiol Immunol 2006;310:211-250.
13. Li E. Chromatin modification and epigenetic reprogramming in mammalian development. Nat Rev Genet 2002;3: 662-673.
14. Song F, Smith JF, Kimura MT, et al. Association of tissuespecific differentially methylated regions (TDMs) with differential gene expression. Proc Natl Acad Sci USA 2005; 102:3336-3341.
15. Dodge JE, Ramsahoye BH, Wo ZG, Okano M, Li E. De novo methylation of MMLV provirus in embryonic stem cells: CpG versus non-CpG methylation. Gene 2002;289: 41-48.
16. Pelizzola M, Ecker JR. The DNA methylome. FEBS Lett 2011;585:1994-2000.
17. Lennartsson A, Ekwall K. Histone modification patterns and epigenetic codes. Biochim Biophys Acta 2009;1790: 863-868.
18. Nimura K, Ura K, Kaneda Y. Histone methyltransferases: regulation of transcription and contribution to human disease. J Mol Med 2010;88:1213-1220.
19. Gupta S, Kim SY, Artis S, et al. Histone methylation regulates memory formation. J Neurosci 2010;30:3589-3599.
20. Costa V, Angelini C, De Feis I, Ciccodicola A. Uncovering the complexity of transcriptomes with RNA-Seq. J Biomed Biotechnol 2010;2010:853916.
21. Qureshi IA, Mehler MF. Emerging roles of non-coding RNAs in brain evolution, development, plasticity and disease. Nat Rev Neurosci 2012;13:528-541.
22. Mallick B, Ghosh Z. A complex crosstalk between polymorphic microRNA target sites and AD prognosis. RNA Biol 2011;8:665-673.
23. Van Esch H, Bauters M, Ignatius J, et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005;77:442-453.
24. Couvert P, Bienvenu T, Aquaviva C, et al. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 2001;10:941-946.
25. Banerjee A, Castro J, Sur M. Rett syndrome: genes, synapses, circuits, and therapeutics. Front Psychiatry 2012;3:34.
26. Klein CJ, Bird T, Ertekin-Taner N, et al. DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss. Neurology 2013;80:824-828.
27. Klein CJ, Botuyan MV, Wu Y, et al. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet 2011;43:595-600.
28. Winkelmann J, Lin L, Schormair B, et al. Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet 2012;21: 2205-2210.
29. Ehrlich M, Sanchez C, Shao C, et al. ICF, an immunodeficiency syndrome: DNA methyltransferase 3B involvement, chromosome anomalies, and gene dysregulation. Autoimmunity 2008;41:253-271.
30. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
31. Ciura S, Le Ber I, Latouche M, Tostivint H, Brice A, Kabashi E. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis. Ann Neurol 2013;74:180-187.
32. Xi Z, Zinman L, Moreno D, et al. Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion. Am J Hum Genet 2013;92:981-989.
33. Garber KB, Visootsak J, Warren ST. Fragile X syndrome. Eur J Hum Genet 2008;16:666-672.
34. Oostra BA, Willemsen R. FMR1: a gene with three faces. Biochim Biophys Acta 2009;1790:467-477.
35. Willemsen R, Levenga J, Oostra BA. CGG repeat in the FMR1 gene: size matters. Clin Genet 2011;80:214-225.
36. Field M, Tarpey P, Boyle J, et al. Mutations in the RSK2 (RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. Clin Genet 2006; 70:509-515.
37. Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Inheritance and variable expression in Rubinstein-Taybi syndrome. Am J Med Genet A 2010; 152A:2254-2261.
38. Berube NG, Mangelsdorf M, Jagla M, et al. The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis. J Clin Invest 2005;115: 258-267.
39. Kinoshita T, Ikeda Y, Ishikawa R. Genomic imprinting: a balance between antagonistic roles of parental chromosomes. Semin Cell Dev Biol 2008;19:574-579.
40. Dagli A, Buiting K, Williams CA. Molecular and clinical aspects of Angelman syndrome. Mol Syndromol 2012;2: 100-112.
41. Wang SC, Oelze B, Schumacher A. Age-specific epigenetic drift in late-onset Alzheimer's disease. PLoS One 2008;3: e2698.
42. Packer AN, Xing Y, Harper SQ, Jones L, Davidson BL. The bifunctional microRNA miR-9/miR-9* regulates REST and CoREST and is downregulated in Huntington's disease. J Neurosci 2008;28:14341-14346.
43. Kontopoulos E, Parvin JD, Feany MB. Alpha-synuclein acts in the nucleus to inhibit histone acetylation and promote neurotoxicity. Hum Mol Genet 2006;15:3012-3023.