Epigenetics in nucleotide repeat expansion disorders

Seminars in Neurology

Volumn 31, Issue 5, 2011, Pages 470-483

  He, Fang ^a   Todd, Peter K ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Fragile X syndrome; HDAC inhibitors; Huntington's disease; myotonic dystrophy; neurodegeneration; spinocerebellar ataxia

Indexed keywords

ATAXIN 1; DNA; HISTONE DEACETYLASE INHIBITOR; POLYGLUTAMINE;

CHROMATIN STRUCTURE; DNA METHYLATION; EPIGENETICS; FRAGILE X SYNDROME; FRIEDREICH ATAXIA; GENE EXPRESSION; GENE LOCUS; GENETIC TRANSCRIPTION; HUMAN; HUNTINGTON CHOREA; MENTAL DEFICIENCY; NUCLEOTIDE REPEAT; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; SPINOCEREBELLAR DEGENERATION; TRANSCRIPTION REGULATION;

CHROMATIN; DNA METHYLATION; DNA REPEAT EXPANSION; EPIGENESIS, GENETIC; FRAGILE X SYNDROME; HUMANS; HUNTINGTON DISEASE; MYOTONIC DYSTROPHY; PEPTIDES; SPINOCEREBELLAR ATAXIAS; SUPPRESSOR OF CYTOKINE SIGNALING PROTEINS;

EID: 84856147847     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0031-1299786     Document Type: Review

References (156)

1. Kumari D, Usdin K. Chromatin remodeling in the noncoding repeat expansion diseases. J Biol Chem 2009 284 12 7413-7417
2. Campuzano V, Montermini L, Molt M D. et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996 271 5254 1423-1427 (Pubitemid 26089479)
3. Orr H T., Zoghbi H Y. Trinucleotide repeat disorders. Annu Rev Neurosci 2007 30 575-621 (Pubitemid 47218768)
4. Williams A J., Paulson H L. Polyglutamine neurodegeneration: protein misfolding revisited. Trends Neurosci 2008 31 10 521-528
5. Todd P K., Paulson H L. RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol 2010 67 3 291-300
6. Wheeler T M., Thornton C A. Myotonic dystrophy: RNA-mediated muscle disease. Curr Opin Neurol 2007 20 5 572-576 (Pubitemid 47462288)
7. Cho D H., Tapscott S J. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochim Biophys Acta 2007 1772 2 195-204 (Pubitemid 46123909)
8. Riley B E., Orr H T. Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzle. Genes Dev 2006 20 16 2183-2192
9. Portela A, Esteller M. Epigenetic modifications and human disease. Nat Biotechnol 2010 28 10 1057-1068
10. Choudhuri S. From Waddington's epigenetic landscape to small noncoding RNA: some important milestones in the history of epigenetics research. Toxicol Mech Methods 2011 21 4 252-274
11. Nelson E D., Monteggia L M. Epigenetics in the mature mammalian brain: effects on behavior and synaptic transmission. Neurobiol Learn Mem 2011 96 1 53-60
12. Guan J S., Haggarty S J., Giacometti E et al. HDAC2 negatively regulates memory formation and synaptic plasticity. Nature 2009 459 7243 55-60
13. Marques S C., Oliveira C R., Pereira C M., Outeiro T F. Epigenetics in neurodegeneration: a new layer of complexity. Prog Neuropsychopharmacol Biol Psychiatry 2011 35 2 348-355
14. Bird A P. CpG-rich islands and the function of DNA methylation. Nature 1986 321 6067 209-213 (Pubitemid 16016411)
15. Holliday R, Pugh J E. DNA modification mechanisms and gene activity during development. Science 1975 187 4173 226-232
16. Riggs A D. X inactivation, differentiation, and DNA methylation. Cytogenet Cell Genet 1975 14 1 9-25
17. Kalantry S. Recent advances in X-chromosome inactivation. J Cell Physiol 2011 226 7 1714-1718
18. Straussman R, Nejman D, Roberts D et al. Developmental programming of CpG island methylation profiles in the human genome. Nat Struct Mol Biol 2009 16 5 564-571
19. Lister R, Pelizzola M, Dowen R H. et al. Human DNA methylomes at base resolution show widespread epigenomic differences. Nature 2009 462 7271 315-322
20. Esteller M. Epigenetic gene silencing in cancer: the DNA hypermethylome. Hum Mol Genet 2007 16 Spec No 1 R50-R59 (Pubitemid 47241842)
21. Li B, Carey M, Workman J L. The role of chromatin during transcription. Cell 2007 128 4 707-719 (Pubitemid 46273570)
22. Mulvihill D J., Nichol Edamura K, Hagerman K A., Pearson C E., Wang Y H. Effect of CAT or AGG interruptions and CpG methylation on nucleosome assembly upon trinucleotide repeats on spinocerebellar ataxia, type 1 and fragile X syndrome. J Biol Chem 2005 280 6 4498-4503 (Pubitemid 40288616)
23. Wang Y H., Gellibolian R, Shimizu M, Wells R D., Griffith J. Long CCG triplet repeat blocks exclude nucleosomes: a possible mechanism for the nature of fragile sites in chromosomes. J Mol Biol 1996 263 4 511-516 (Pubitemid 26382070)
24. Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile X syndrome. Am J Med Genet 1996 64 1 196-197
25. Hantash F M., Goos D M., Crossley B et al. FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Genet Med 2011 13 1 39-45
26. Martin J P., Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry 1943 6 3-4 154-157
27. Lubs H A. A marker X chromosome. Am J Hum Genet 1969 21 3 231-244
28. Sutherland G R. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977 197 4300 265-266 (Pubitemid 8130438)
29. Fu Y H., Kuhl D P., Pizzuti A et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991 67 6 1047-1058 (Pubitemid 121001519)
30. Kremer E J., Pritchard M, Lynch M et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991 252 5013 1711-1714 (Pubitemid 21917094)
31. Verkerk A J., Pieretti M, Sutcliffe J S. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991 65 5 905-914 (Pubitemid 121001321)
32. Pieretti M, Zhang F P., Fu Y H. et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991 66 4 817-822 (Pubitemid 121001715)
33. Hagerman R J., Leehey M, Heinrichs W et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001 57 1 127-130 (Pubitemid 32634862)
34. Jacquemont S, Hagerman R J., Leehey M A. et al. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004 291 4 460-469 (Pubitemid 38129750)
35. Rodriguez-Revenga L, Madrigal I, Pagonabarraga J et al. Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur J Hum Genet 2009 17 10 1359-1362
36. Berry-Kravis E, Abrams L, Coffey S M. et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007 22 14 2018-2030, quiz 2140
37. Kaufmann W E., Abrams M T., Chen W, Reiss A L. Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome. Am J Med Genet 1999 83 4 286-295 (Pubitemid 29162630)
38. Primerano B, Tassone F, Hagerman R J., Hagerman P, Amaldi F, Bagni C. Reduced FMR1 mRNA translation efficiency in fragile X patients with premutations. RNA 2002 8 12 1482-1488 (Pubitemid 36009019)
39. Tassone F, Hagerman R J., Garcia-Arocena D, Khandjian E W., Greco C M., Hagerman P J. Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet 2004 41 4 e43
40. Entezam A, Biacsi R, Orrison B et al. Regional FMRP deficits and large repeat expansions into the full mutation range in a new fragile X premutation mouse model. Gene 2007 395 1-2 125-134 (Pubitemid 46670641)
41. Brouwer J R., Mientjes E J., Bakker C E. et al. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation. Exp Cell Res 2007 313 2 244-253 (Pubitemid 46048813)
42. Sherman S L. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000 97 3 189-194 (Pubitemid 32059206)
43. Farzin F, Perry H, Hessl D et al. Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr 2006 27 2, Suppl S137-S144 (Pubitemid 44620295)
44. Sutcliffe J S., Nelson D L., Zhang F et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1992 1 6 397-400
45. Oberl I, Vincent A, Abbadi N et al. New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval. Am J Med Genet 1991 38 2-3 336-342
46. Bell M V., Hirst M C., Nakahori Y et al. Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 1991 64 4 861-866 (Pubitemid 121001172)
47. Vincent A, Heitz D, Petit C, Kretz C, Oberl I, Mandel J L. Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature 1991 349 6310 624-626 (Pubitemid 21912119)
48. Coffee B, Zhang F, Warren S T., Reines D. Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nat Genet 1999 22 1 98-101 (Pubitemid 29214814)
49. Coffee B, Zhang F, Ceman S, Warren S T., Reines D. Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile X syndrome. Am J Hum Genet 2002 71 4 923-932 (Pubitemid 135750522)
50. Pietrobono R, Tabolacci E, Zalfa F et al. Molecular dissection of the events leading to inactivation of the FMR1 gene. Hum Mol Genet 2005 14 2 267-277
51. Kumari D, Usdin K. The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome. Hum Mol Genet 2010 19 23 4634-4642
52. Tabolacci E, Pietrobono R, Moscato U, Oostra B A., Chiurazzi P, Neri G. Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments. Eur J Hum Genet 2005 13 5 641-648 (Pubitemid 40691406)
53. Tabolacci E, Moscato U, Zalfa F, Bagni C, Chiurazzi P, Neri G. Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. Eur J Hum Genet 2008 16 12 1487-1498
54. Feng Y, Zhang F, Lokey L K. et al. Translational suppression by trinucleotide repeat expansion at FMR1. Science 1995 268 5211 731-734
55. Chiurazzi P, Pomponi M G., Willemsen R, Oostra B A., Neri G. In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum Mol Genet 1998 7 1 109-113 (Pubitemid 28040744)
56. Biacsi R, Kumari D, Usdin K. SIRT1 inhibition alleviates gene silencing in fragile X mental retardation syndrome. PLoS Genet 2008 4 3 e1000017
57. Eiges R, Urbach A, Malcov M et al. Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 2007 1 5 568-577 (Pubitemid 350079966)
58. Urbach A, Bar-Nur O, Daley G Q., Benvenisty N. Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell 2010 6 5 407-411
59. Ladd P D., Smith L E., Rabaia N A. et al. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet 2007 16 24 3174-3187 (Pubitemid 350131334)
60. Cho D H., Thienes C P., Mahoney S E., Analau E, Filippova G N., Tapscott S J. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol Cell 2005 20 3 483-489 (Pubitemid 41572304)
61. Morris K V., Chan S W., Jacobsen S E., Looney D J. Small interfering RNA-induced transcriptional gene silencing in human cells. Science 2004 305 5688 1289-1292 (Pubitemid 39129233)
62. Khalil A M., Faghihi M A., Modarresi F, Brothers S P., Wahlestedt C. A novel RNA transcript with antiapoptotic function is silenced in fragile X syndrome. PLoS ONE 2008 3 1 e1486
63. Jin P, Zarnescu D C., Zhang F et al. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 2003 39 5 739-747 (Pubitemid 37088087)
64. Arocena D G., Iwahashi C K., Won N et al. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet 2005 14 23 3661-3671 (Pubitemid 41754666)
65. Handa V, Goldwater D, Stiles D et al. Long CGG-repeat tracts are toxic to human cells: implications for carriers of fragile X premutation alleles. FEBS Lett 2005 579 12 2702-2708 (Pubitemid 40615680)
66. Hashem V, Galloway J N., Mori M et al. Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet 2009 18 13 2443-2451
67. Tassone F, Beilina A, Carosi C et al. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 2007 13 4 555-562 (Pubitemid 46506938)
68. Todd P K., Oh S Y., Krans A et al. Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. PLoS Genet 2010 6 12 e1001240
69. Chandler S P., Kansagra P, Hirst M C. Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect. BMC Mol Biol 2003 4 3
70. Slvsten C, Nielsen A L. FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays. Gene 2011 486 1-2 15-22
71. Brouwer J R., Huizer K, Severijnen L A. et al. CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 2008 107 6 1671-1682
72. Modoni A, Silvestri G, Pomponi M G., Mangiola F, Tonali P A., Marra C. Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Arch Neurol 2004 61 12 1943-1947 (Pubitemid 39612957)
73. Brook J D., McCurrach M E., Harley H G. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3 end of a transcript encoding a protein kinase family member. Cell 1992 69 2 385
74. Fu Y H., Pizzuti A, Fenwick R G. Jr et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992 255 5049 1256-1258
75. Mahadevan M, Tsilfidis C, Sabourin L et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3 untranslated region of the gene. Science 1992 255 5049 1253-1255
76. Jansen G, Groenen P J., Bchner D et al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet 1996 13 3 316-324 (Pubitemid 26230498)
77. Reddy S, Smith D B., Rich M M. et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 1996 13 3 325-335 (Pubitemid 26230499)
78. Klesert T R., Cho D H., Clark J I. et al. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet 2000 25 1 105-109 (Pubitemid 30257047)
79. Sarkar P S., Appukuttan B, Han J et al. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet 2000 25 1 110-114 (Pubitemid 30257048)
80. Filippova G N., Thienes C P., Penn B H. et al. CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nat Genet 2001 28 4 335-343 (Pubitemid 32702422)
81. Taneja K L., McCurrach M, Schalling M, Housman D, Singer R H. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995 128 6 995-1002
82. Mankodi A, Logigian E, Callahan L et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000 289 5485 1769-1773
83. Miller J W., Urbinati C R., Teng-Umnuay P et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 2000 19 17 4439-4448
84. Liquori C L., Ricker K, Moseley M L. et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001 293 5531 864-867 (Pubitemid 32743976)
85. Mankodi A, Urbinati C R., Yuan Q P. et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 2001 10 19 2165-2170 (Pubitemid 32998828)
86. Filippova G N. Genetics and epigenetics of the multifunctional protein CTCF. Curr Top Dev Biol 2008 80 337-360
87. Lpez Castel A, Nakamori M, Tom S et al. Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Hum Mol Genet 2011 20 1 1-15
88. Li L B., Yu Z, Teng X, Bonini N M. RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature 2008 453 7198 1107-1111 (Pubitemid 351871727)
89. Seriola A, Spits C, Simard J P. et al. Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation. Hum Mol Genet 2011 20 1 176-185
90. Marteyn A, Maury Y, Gauthier M M. et al. Mutant human embryonic stem cells reveal neurite and synapse formation defects in type 1 myotonic dystrophy. Cell Stem Cell 2011 8 4 434-444
91. Nedelsky N B., Pennuto M, Smith R B. et al. Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron 2010 67 6 936-952
92. Duvick L, Barnes J, Ebner B et al. SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron 2010 67 6 929-935
93. Servadio A, Koshy B, Armstrong D, Antalffy B, Orr H T., Zoghbi H Y. Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet 1995 10 1 94-98
94. Lin X, Antalffy B, Kang D, Orr H T., Zoghbi H Y. Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci 2000 3 2 157-163 (Pubitemid 30126331)
95. Serra H G., Byam C E., Lande J D., Tousey S K., Zoghbi H Y., Orr H T. Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice. Hum Mol Genet 2004 13 20 2535-2543 (Pubitemid 39377856)
96. Lam Y C., Bowman A B., Jafar-Nejad P et al. ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology. Cell 2006 127 7 1335-1347 (Pubitemid 44960413)
97. Serra H G., Duvick L, Zu T et al. RORalpha-mediated Purkinje cell development determines disease severity in adult SCA1 mice. Cell 2006 127 4 697-708 (Pubitemid 44716252)
98. Brady M E., Ozanne D M., Gaughan L et al. Tip60 is a nuclear hormone receptor coactivator. J Biol Chem 1999 274 25 17599-17604
99. Gold D A., Baek S H., Schork N J. et al. RORalpha coordinates reciprocal signaling in cerebellar development through sonic hedgehog and calcium-dependent pathways. Neuron 2003 40 6 1119-1131 (Pubitemid 38032789)
100. Gehrking K M., Andresen J M., Duvick L, Lough J, Zoghbi H Y., Orr H T. Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model. Hum Mol Genet 2011 20 11 2204-2212
101. Enevoldson T P., Sanders M D., Harding A E. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain 1994 117 Pt 3 445-460
102. La Spada A R., Fu Y H., Sopher B L. et al. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces conerod dystrophy in a mouse model of SCA7. Neuron 2001 31 6 913-927 (Pubitemid 32925279)
103. Yoo S Y., Pennesi M E., Weeber E J. et al. SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron 2003 37 3 383-401 (Pubitemid 36183362)
104. Helmlinger D, Hardy S, Sasorith S et al. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet 2004 13 12 1257-1265 (Pubitemid 38877879)
105. Grant P A., Duggan L, Ct J et al. Yeast Gcn5 functions in two multisubunit complexes to acetylate nucleosomal histones: characterization of an Ada complex and the SAGA (Spt/Ada) complex. Genes Dev 1997 11 13 1640-1650 (Pubitemid 27300590)
106. Helmlinger D, Hardy S, Abou-Sleymane G et al. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol 2006 4 3 e67
107. McMahon S J., Pray-Grant M G., Schieltz D, Yates J R. III, Grant P A. Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity. Proc Natl Acad Sci U S A 2005 102 24 8478-8482 (Pubitemid 40862761)
108. Palhan V B., Chen S, Peng G H. et al. Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci U S A 2005 102 24 8472-8477 (Pubitemid 40862760)
109. Zuccato C, Valenza M, Cattaneo E. Molecular mechanisms and potential therapeutical targets in Huntington's disease. Physiol Rev 2010 90 3 905-981
110. Cook T, Gebelein B, Urrutia R. Sp1 and its likes: biochemical and functional predictions for a growing family of zinc finger transcription factors. Ann N Y Acad Sci 1999 880 94-102 (Pubitemid 29349117)
111. Dunah A W., Jeong H, Griffin A et al. Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease. Science 2002 296 5576 2238-2243 (Pubitemid 34680312)
112. Li S H., Cheng A L., Zhou H et al. Interaction of Huntington disease protein with transcriptional activator Sp1. Mol Cell Biol 2002 22 5 1277-1287 (Pubitemid 34150765)
113. Chen-Plotkin A S., Sadri-Vakili G, Yohrling G J. et al. Decreased association of the transcription factor Sp1 with genes downregulated in Huntington's disease. Neurobiol Dis 2006 22 2 233-241
114. Zuccato C, Tartari M, Crotti A et al. Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat Genet 2003 35 1 76-83 (Pubitemid 37048599)
115. Schoenherr C J., Anderson D J. The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-specific genes. Science 1995 267 5202 1360-1363
116. Schoenherr C J., Paquette A J., Anderson D J. Identification of potential target genes for the neuron-restrictive silencer factor. Proc Natl Acad Sci U S A 1996 93 18 9881-9886 (Pubitemid 26296703)
117. Chen Z F., Paquette A J., Anderson D J. NRSF/REST is required in vivo for repression of multiple neuronal target genes during embryogenesis. Nat Genet 1998 20 2 136-142 (Pubitemid 28455445)
118. Ooi L, Wood I C. Chromatin crosstalk in development and disease: lessons from REST. Nat Rev Genet 2007 8 7 544-554 (Pubitemid 46955208)
119. Zuccato C, Belyaev N, Conforti P et al. Widespread disruption of repressor element-1 silencing transcription factor/neuron-restrictive silencer factor occupancy at its target genes in Huntington's disease. J Neurosci 2007 27 26 6972-6983 (Pubitemid 47015906)
120. 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 7144 601-605 (Pubitemid 46868038)
121. Mulligan P, Westbrook T F., Ottinger M et al. CDYL bridges REST and histone methyltransferases for gene repression and suppression of cellular transformation. Mol Cell 2008 32 5 718-726
122. Lepagnol-Bestel A M., Zvara A, Maussion G et al. DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome. Hum Mol Genet 2009 18 8 1405-1414
123. Chrivia J C., Kwok R P., Lamb N, Hagiwara M, Montminy M R., Goodman R H. Phosphorylated CREB binds specifically to the nuclear protein CBP. Nature 1993 365 6449 855-859 (Pubitemid 23341031)
124. Kwok R P., Lundblad J R., Chrivia J C. et al. Nuclear protein CBP is a coactivator for the transcription factor CREB. Nature 1994 370 6486 223-226 (Pubitemid 24236779)
125. Kazantsev A, Preisinger E, Dranovsky A, Goldgaber D, Housman D. Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells. Proc Natl Acad Sci U S A 1999 96 20 11404-11409 (Pubitemid 29487393)
126. Nucifora F C. Jr, Sasaki M, Peters M F. et al. Interference by huntingtin and atrophin-1 with cbp-mediated transcription leading to cellular toxicity. Science 2001 291 5512 2423-2428 (Pubitemid 32231807)
127. Taylor J P., Taye A A., Campbell C, Kazemi-Esfarjani P, Fischbeck K H., Min K T. Aberrant histone acetylation, altered transcription, and retinal degeneration in a Drosophila model of polyglutamine disease are rescued by CREB-binding protein. Genes Dev 2003 17 12 1463-1468 (Pubitemid 36734703)
128. Steffan J S., Kazantsev A, Spasic-Boskovic O et al. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc Natl Acad Sci U S A 2000 97 12 6763-6768 (Pubitemid 30412788)
129. Steffan J S., Bodai L, Pallos J et al. Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila. Nature 2001 413 6857 739-743 (Pubitemid 33009952)
130. Sadri-Vakili G, Bouzou B, Benn C L. et al. Histones associated with downregulated genes are hypo-acetylated in Huntington's disease models. Hum Mol Genet 2007 16 11 1293-1306 (Pubitemid 47055125)
131. Drr A, Cossee M, Agid Y et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996 335 16 1169-1175 (Pubitemid 26339770)
132. Bidichandani S I., Ashizawa T, Patel P I. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 1998 62 1 111-121 (Pubitemid 28093840)
133. Herman D, Jenssen K, Burnett R, Soragni E, Perlman S L., Gottesfeld J M. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol 2006 2 10 551-558 (Pubitemid 44413238)
134. Rai M, Soragni E, Jenssen K et al. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS ONE 2008 3 4 e1958
135. Rai M, Soragni E, Chou C J. et al. Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model. PLoS ONE 2010 5 1 e8825
136. Sandi C, Pinto R M., Al-Mahdawi S et al. Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiol Dis 2011 42 3 496-505
137. Hodges A, Strand A D., Aragaki A K. et al. Regional and cellular gene expression changes in human Huntington's disease brain. Hum Mol Genet 2006 15 6 965-977 (Pubitemid 43338237)
138. Hockly E, Richon V M., Woodman B et al. Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease. Proc Natl Acad Sci U S A 2003 100 4 2041-2046 (Pubitemid 36254570)
139. Pallos J, Bodai L, Lukacsovich T et al. Inhibition of specific HDACs and sirtuins suppresses pathogenesis in a Drosophila model of Huntington's disease. Hum Mol Genet 2008 17 23 3767-3775
140. Hathorn T, Snyder-Keller A, Messer A. Nicotinamide improves motor deficits and upregulates PGC-1 and BDNF gene expression in a mouse model of Huntington's disease. Neurobiol Dis 2011 41 1 43-50
141. Raheem O, Olufemi S E., Bachinski L L. et al. Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol 2010 177 6 3025-3036
142. Winnepenninckx B, Debacker K, Ramsay J et al. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am J Hum Genet 2007 80 2 221-231 (Pubitemid 46175671)
143. Gcz J, Oostra B A., Hockey A et al. FMR2 expression in families with FRAXE mental retardation. Hum Mol Genet 1997 6 3 435-441 (Pubitemid 27116464)
144. Gu Y, Shen Y, Gibbs R A., Nelson D L. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 1996 13 1 109-113 (Pubitemid 126528239)
145. Al-Mahdawi S, Pinto R M., Ismail O et al. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet 2008 17 5 735-746 (Pubitemid 351292262)
146. Campuzano V, Montermini L, Lutz Y et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997 6 11 1771-1780 (Pubitemid 27460350)
147. Lin C H., Chen C M., Hou Y T. et al. The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression. Hum Genet 2010 128 2 205-212
148. Zhang S, Xu L, Lee J, Xu T. Drosophila atrophin homolog functions as a transcriptional corepressor in multiple developmental processes. Cell 2002 108 1 45-56 (Pubitemid 34137011)
149. La Spada A R., Wilson E M., Lubahn D B., Harding A E., Fischbeck K H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991 352 6330 77-79 (Pubitemid 21896702)
150. Hallen L, Klein H, Stoschek C et al. The KRAB-containing zinc-finger transcriptional regulator ZBRK1 activates SCA2 gene transcription through direct interaction with its gene product, ataxin-2. Hum Mol Genet 2011 20 1 104-114
151. Satterfield T F., Pallanck L J. Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum Mol Genet 2006 15 16 2523-2532 (Pubitemid 44288704)
152. Evert B O., Araujo J, Vieira-Saecker A M. et al. Ataxin-3 represses transcription via chromatin binding, interaction with histone deacetylase 3, and histone deacetylation. J Neurosci 2006 26 44 11474-11486 (Pubitemid 44772178)
153. Burnett B, Li F, Pittman R N. The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity. Hum Mol Genet 2003 12 23 3195-3205 (Pubitemid 37508890)
154. Kordasiewicz H B., Thompson R M., Clark H B., Gomez C M. C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity. Hum Mol Genet 2006 15 10 1587-1599 (Pubitemid 43904825)
155. Zhuchenko O, Bailey J, Bonnen P et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997 15 1 62-69
156. Gill G, Tjian R. Eukaryotic coactivators associated with the TATA box binding protein. Curr Opin Genet Dev 1992 2 2 236-242