Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion.
Purkinje cells
SCA
epigenetic
polyglutamine
spinocerebellar ataxia
transcriptional dysregulation
Journal
Frontiers in neuroscience
ISSN: 1662-4548
Titre abrégé: Front Neurosci
Pays: Switzerland
ID NLM: 101478481
Informations de publication
Date de publication:
2020
2020
Historique:
received:
07
04
2020
accepted:
11
05
2020
entrez:
26
6
2020
pubmed:
26
6
2020
medline:
26
6
2020
Statut:
epublish
Résumé
Polyglutamine spinocerebellar ataxias (polyQ SCAs) include SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 and constitute a group of adult onset neurodegenerative disorders caused by the expansion of a CAG repeat sequence located within the coding region of specific genes, which translates into polyglutamine tract in the corresponding proteins. PolyQ SCAs are characterized by degeneration of the cerebellum and its associated structures and lead to progressive ataxia and other diverse symptoms. In recent years, gene and epigenetic deregulations have been shown to play a critical role in the pathogenesis of polyQ SCAs. Here, we provide an overview of the functions of wild type and pathogenic polyQ SCA proteins in gene regulation, describe the extent and nature of gene expression changes and their pathological consequences in diseases, and discuss potential avenues to further investigate converging and distinct disease pathways and to develop therapeutic strategies.
Identifiants
pubmed: 32581696
doi: 10.3389/fnins.2020.00571
pmc: PMC7296114
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
571Informations de copyright
Copyright © 2020 Niewiadomska-Cimicka, Hache and Trottier.
Références
Mol Cell Biol. 1985 Jun;5(6):1358-69
pubmed: 3929071
PLoS One. 2015 Oct 27;10(10):e0141610
pubmed: 26505994
Hum Mol Genet. 2012 Jan 15;21(2):394-405
pubmed: 22002997
J Neurosci. 2006 Nov 1;26(44):11474-86
pubmed: 17079677
Trends Neurosci. 1995 Jul;18(7):321-6
pubmed: 7571013
Proc Natl Acad Sci U S A. 2004 Mar 23;101(12):4047-52
pubmed: 15016912
Proc Natl Acad Sci U S A. 2005 Jun 14;102(24):8472-7
pubmed: 15932940
Neural Dev. 2010 Sep 01;5:23
pubmed: 20809939
Nat Genet. 1996 Nov;14(3):269-76
pubmed: 8896555
Elife. 2018 Dec 03;7:
pubmed: 30507379
Nature. 1996 Feb 22;379(6567):736-9
pubmed: 8602221
Genome Res. 2019 Dec;29(12):1939-1950
pubmed: 31732535
Aging (Albany NY). 2019 Feb 13;11(3):986-1007
pubmed: 30760647
Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11987-92
pubmed: 18687887
Nature. 2017 Apr 20;544(7650):362-366
pubmed: 28405024
Am J Hum Genet. 2001 Mar;68(3):759-64
pubmed: 11179022
Front Synaptic Neurosci. 2018 Apr 26;10:6
pubmed: 29760657
Neuron. 2016 Mar 16;89(6):1194-1207
pubmed: 26948890
Mol Cell Biol. 2015 May;35(10):1777-87
pubmed: 25755283
Cerebellum. 2008;7(2):115-24
pubmed: 18418684
Lancet Neurol. 2015 Nov;14(11):1101-8
pubmed: 26377379
Science. 2019 Mar 29;363(6434):1463-1467
pubmed: 30923225
J Neural Transm (Vienna). 2014 Jun;121(6):601-10
pubmed: 24413982
Cell. 1995 Sep 22;82(6):937-48
pubmed: 7553854
Proc Natl Acad Sci U S A. 2008 Jan 29;105(4):1291-6
pubmed: 18216249
PLoS One. 2013;8(1):e54792
pubmed: 23382971
Neuron. 2020 Feb 19;105(4):630-644.e9
pubmed: 31859031
Hum Mol Genet. 2006 Mar 1;15(5):691-703
pubmed: 16434483
Hum Mol Genet. 2015 Jun 15;24(12):3481-96
pubmed: 25784504
JCI Insight. 2018 Nov 2;3(21):
pubmed: 30385727
Hum Mol Genet. 2004 Jun 15;13(12):1257-65
pubmed: 15115762
Hum Mol Genet. 2010 Jan 15;19(2):235-49
pubmed: 19843543
J Biol Chem. 2015 Sep 4;290(36):21996-2004
pubmed: 26195632
Front Mol Neurosci. 2019 Oct 25;12:258
pubmed: 31708741
Nat Genet. 1996 Nov;14(3):285-91
pubmed: 8896557
Cell. 2018 Aug 9;174(4):1015-1030.e16
pubmed: 30096299
Science. 2011 Nov 4;334(6056):690-3
pubmed: 22053053
Cell Rep. 2016 Nov 1;17(6):1482-1490
pubmed: 27806289
Aging Cell. 2017 Aug;16(4):785-796
pubmed: 28568901
Cell. 2006 Nov 17;127(4):697-708
pubmed: 17110330
Int J Mol Sci. 2019 Nov 21;20(23):
pubmed: 31766565
Nucleic Acids Res. 1998 May 1;26(9):2112-9
pubmed: 9547268
Nat Rev Mol Cell Biol. 2012 Jan 18;13(2):89-102
pubmed: 22251901
Mol Neurodegener. 2018 Jan 30;13(1):4
pubmed: 29378605
Neurotherapeutics. 2019 Oct;16(4):1074-1096
pubmed: 31432449
Exp Neurol. 2017 May;291:120-133
pubmed: 28131727
Curr Opin Neurol. 2011 Aug;24(4):339-45
pubmed: 21734495
Proc Natl Acad Sci U S A. 2005 Jun 14;102(24):8478-82
pubmed: 15932941
Mol Cell Neurosci. 2007 Feb;34(2):261-70
pubmed: 17188510
Neurobiol Dis. 2010 Oct;40(1):311-24
pubmed: 20600911
Hum Mol Genet. 2001 Aug 1;10(16):1679-92
pubmed: 11487572
Science. 2001 Mar 23;291(5512):2423-8
pubmed: 11264541
Neurosci Lett. 2003 Apr 24;341(1):74-8
pubmed: 12676347
Mol Cell. 2017 Oct 5;68(1):118-129.e5
pubmed: 28918900
JAMA Neurol. 2014 Jul 1;71(7):831-9
pubmed: 24862029
Mol Cell. 2017 Oct 5;68(1):130-143.e5
pubmed: 28918903
Neurology. 2003 Nov 25;61(10):1441-3
pubmed: 14638975
Nature. 2008 Apr 10;452(7188):713-8
pubmed: 18337722
Cell Rep. 2014 Jul 24;8(2):477-86
pubmed: 25043177
Hum Mol Genet. 2015 Sep 1;24(17):4780-91
pubmed: 26034136
Neurobiol Dis. 2007 Mar;25(3):571-81
pubmed: 17189700
Curr Opin Cell Biol. 2016 Jun;40:81-89
pubmed: 27015023
Neurobiol Dis. 2011 Feb;41(2):481-8
pubmed: 21047555
J Biol Chem. 2004 Jan 30;279(5):3605-11
pubmed: 14602712
Proc Natl Acad Sci U S A. 2012 Dec 26;109(52):21319-24
pubmed: 23236151
PLoS Genet. 2015 Apr 22;11(4):e1005182
pubmed: 25902068
Cell. 2003 May 16;113(4):457-68
pubmed: 12757707
Hum Mol Genet. 2011 Jun 1;20(11):2204-12
pubmed: 21427130
Biochem Soc Symp. 2006;(73):155-63
pubmed: 16626296
J Physiol. 2016 Aug 15;594(16):4653-60
pubmed: 27198167
Cell. 1987 Dec 24;51(6):987-1000
pubmed: 3690668
Cell. 2013 Jul 3;154(1):118-33
pubmed: 23827678
Science. 2016 Jun 24;352(6293):1586-90
pubmed: 27339989
J Biol Chem. 2007 Oct 12;282(41):30150-60
pubmed: 17646170
Brain Pathol. 2005 Oct;15(4):287-95
pubmed: 16389941
Mol Neurodegener. 2018 Jun 22;13(1):31
pubmed: 29929540
Mol Biol Cell. 2007 Apr;18(4):1385-96
pubmed: 17392519
Neurobiol Dis. 2015 Jan;73:174-88
pubmed: 25301414
Eur J Hum Genet. 2004 Jan;12(1):2-15
pubmed: 14571264
Nat Genet. 1996 Nov;14(3):277-84
pubmed: 8896556
J Neurosci. 2004 Oct 6;24(40):8853-61
pubmed: 15470152
Nat Genet. 1993 Jul;4(3):221-6
pubmed: 8358429
CNS Neurosci Ther. 2018 May;24(5):404-411
pubmed: 29318784
Mol Cell. 2018 Oct 4;72(1):10-17
pubmed: 30290147
Cell. 2013 Nov 7;155(4):934-47
pubmed: 24119843
Neuron. 2001 Sep 27;31(6):913-27
pubmed: 11580893
Annu Rev Cell Dev Biol. 2000;16:521-55
pubmed: 11031246
Neuron. 2015 Mar 18;85(6):1212-26
pubmed: 25789755
J Biol Chem. 2012 Aug 17;287(34):28576-85
pubmed: 22761419
PLoS Genet. 2010 Jul 08;6(7):e1001021
pubmed: 20628574
Trends Neurosci. 2018 Sep;41(9):587-598
pubmed: 29885742
J Biol Chem. 2007 Oct 5;282(40):29186-92
pubmed: 17646162
Cell. 2004 Mar 5;116(5):699-709
pubmed: 15006352
J Biol Chem. 2002 Nov 22;277(47):45004-12
pubmed: 12297501
Neuron. 2002 Jun 13;34(6):905-19
pubmed: 12086639
Clin Neurosci. 1995;3(1):5-11
pubmed: 7614095
Elife. 2018 Oct 15;7:
pubmed: 30320555
Mol Cell Biol. 2002 Nov;22(21):7365-71
pubmed: 12370284
Nucleic Acids Res. 2011 Jul;39(12):5025-35
pubmed: 21385826
Hum Mol Genet. 2013 Jan 15;22(2):271-83
pubmed: 23087021
Hum Mol Genet. 2006 Aug 15;15(16):2523-32
pubmed: 16835262
Hum Mol Genet. 2017 Sep 1;26(17):3362-3374
pubmed: 28854700
Hum Mol Genet. 2000 Sep 22;9(15):2305-12
pubmed: 11001934
Hum Mol Genet. 2004 Jan 1;13(1):53-67
pubmed: 14613968
Proc Natl Acad Sci U S A. 1999 Dec 21;96(26):15245-50
pubmed: 10611370
Hum Mol Genet. 2004 Oct 15;13(20):2535-43
pubmed: 15317756
Neuron. 1997 Aug;19(2):333-44
pubmed: 9292723
J Biol Chem. 2013 Nov 22;288(47):34266-75
pubmed: 24129567
Nat Neurosci. 2006 Oct;9(10):1302-11
pubmed: 16936724
Acta Neuropathol. 1999 Mar;97(3):306-10
pubmed: 10090679
Prog Neurobiol. 2013 May;104:38-66
pubmed: 23438480
Curr Biol. 2014 May 19;24(10):R463-74
pubmed: 24845679
Nat Genet. 1997 Jan;15(1):62-9
pubmed: 8988170
Cell. 1989 Feb 24;56(4):549-61
pubmed: 2917366
J Mol Biol. 2005 Feb 11;346(1):203-14
pubmed: 15663938
Hum Mol Genet. 2000 Sep 1;9(14):2197-202
pubmed: 10958659
Nat Commun. 2020 Feb 27;11(1):1101
pubmed: 32107387
Genes Dev. 2012 Mar 15;26(6):527-41
pubmed: 22426530
Proc Natl Acad Sci U S A. 2002 Oct 1;99(20):13284-9
pubmed: 12235360
Brain Res. 2016 Jul 15;1643:1-9
pubmed: 27130898
Neuropathol Appl Neurobiol. 2003 Oct;29(5):418-33
pubmed: 14507334
Biochem Biophys Res Commun. 2015 Jul 10;462(4):294-300
pubmed: 25979359
J Biol Chem. 2002 Apr 19;277(16):14005-10
pubmed: 11830591
J Biol Chem. 2001 Nov 30;276(48):44889-97
pubmed: 11572863
Hum Mol Genet. 2015 Jul 15;24(14):3908-17
pubmed: 25859008
Hum Mol Genet. 2007 Sep 1;16(17):2122-34
pubmed: 17599952
Genes Dev. 2014 Sep 15;28(18):1999-2012
pubmed: 25228644
Cell. 2013 Apr 11;153(2):307-19
pubmed: 23582322
Hum Mol Genet. 2003 Nov 1;12(21):2845-52
pubmed: 12944423
Neurotherapeutics. 2019 Apr;16(2):263-286
pubmed: 30607747
Brain. 2011 Jul;134(Pt 7):1943-58
pubmed: 21705419
EMBO J. 2005 Sep 21;24(18):3339-51
pubmed: 16121196
Brain Res. 2014 Oct 2;1583:220-9
pubmed: 25139423
Hum Mol Genet. 2011 Aug 1;20(15):2928-41
pubmed: 21536589
Neurobiol Dis. 2016 May;89:190-201
pubmed: 26851501
Cell. 1992 Mar 6;68(5):965-76
pubmed: 1547496
Nat Rev Mol Cell Biol. 2019 Feb;20(2):102-115
pubmed: 30390028
PLoS One. 2010 Jun 09;5(6):e11039
pubmed: 20543957
J Neurosci. 2007 Jul 11;27(28):7418-28
pubmed: 17626202
Cell. 2015 Apr 23;161(3):541-554
pubmed: 25910208
Science. 2017 Feb 17;355(6326):756-760
pubmed: 28209901
J Biol Chem. 2008 Sep 26;283(39):26436-43
pubmed: 18599482
Cerebellum. 2017 Feb;16(1):68-81
pubmed: 26868665
Nat Neurosci. 2000 Feb;3(2):157-63
pubmed: 10649571
Cell Calcium. 2003 Oct-Nov;34(4-5):325-37
pubmed: 12909079
Nat Genet. 1997 Sep;17(1):65-70
pubmed: 9288099
J Immunol. 2018 Jul 15;201(2):675-687
pubmed: 29802126
Neuron. 2014 Jan 22;81(2):349-65
pubmed: 24462098
Neuron. 2002 May 30;34(5):701-13
pubmed: 12062018
Hum Mol Genet. 2001 Jan 1;10(1):25-30
pubmed: 11136710
Acta Neuropathol. 2000 Oct;100(4):371-6
pubmed: 10985694
Hum Mol Genet. 1999 Jul;8(7):1185-93
pubmed: 10369863
Science. 2002 Nov 1;298(5595):1036-9
pubmed: 12411709
Front Cell Neurosci. 2015 Feb 16;9:36
pubmed: 25762895
PLoS One. 2012;7(4):e35302
pubmed: 22530004
Neuron. 2003 Feb 6;37(3):383-401
pubmed: 12575948
Epigenetics Chromatin. 2009 Feb 18;2(1):2
pubmed: 19226466
Hum Mol Genet. 2003 Jan 1;12(1):1-12
pubmed: 12490527
Hum Mol Genet. 2019 Mar 15;28(6):912-927
pubmed: 30445451
Cell Rep. 2015 Oct 6;13(1):196-208
pubmed: 26387956
Front Mol Neurosci. 2018 May 15;11:153
pubmed: 29867345
J Neurosci. 1998 Jul 15;18(14):5508-16
pubmed: 9651231
Brain. 2013 Jun;136(Pt 6):1732-45
pubmed: 23518714
Nature. 2010 Aug 26;466(7310):1069-75
pubmed: 20740007
Biochem Biophys Res Commun. 2006 Jan 6;339(1):17-24
pubmed: 16293225
Mol Neurodegener. 2013 Oct 27;8:42
pubmed: 24160175
Front Mol Neurosci. 2019 Jun 19;12:156
pubmed: 31275113
Mol Cell Biol. 1994 Mar;14(3):1582-93
pubmed: 8114696
Nat Rev Neurosci. 2010 Aug;11(8):563-76
pubmed: 20648062
Neurology. 1997 Nov;49(5):1243-6
pubmed: 9371901
Nature. 2005 Mar 3;434(7029):113-8
pubmed: 15744310
Hum Mol Genet. 2008 May 15;17(10):1465-81
pubmed: 18250099
Hum Mol Genet. 2014 Jul 15;23(14):3733-45
pubmed: 24594842
J Neurosci. 2007 Mar 7;27(10):2483-92
pubmed: 17344386
Exp Neurol. 2006 Apr;198(2):511-8
pubmed: 16497297
Nucleic Acids Res. 1992 Dec 25;20(24):6451-4
pubmed: 1480467
Adv Exp Med Biol. 2018;1049:197-218
pubmed: 29427104
Adv Exp Med Biol. 2018;1049:219-231
pubmed: 29427105
Nat Genet. 2007 Mar;39(3):373-9
pubmed: 17322884
Int J Dev Neurosci. 2014 Nov;38:17-22
pubmed: 25068645
Nat Struct Mol Biol. 2014 Nov;21(11):955-961
pubmed: 25306109
Genes Dev. 2017 Aug 1;31(15):1588-1600
pubmed: 28887412
Nature. 2020 Jan;577(7792):711-716
pubmed: 31969704
Neurochem Int. 2010 Jan;56(2):329-39
pubmed: 19909779
Cell. 2016 Aug 11;166(4):822-839
pubmed: 27518561
Nat Genet. 1998 Jun;19(2):148-54
pubmed: 9620770
Nature. 1997 Oct 30;389(6654):974-8
pubmed: 9353121
Cell. 2005 Aug 26;122(4):633-44
pubmed: 16122429
Neurogenetics. 2015 Jul;16(3):181-92
pubmed: 25721894
Neurobiol Dis. 2020 Feb;134:104635
pubmed: 31669734
Mol Cell Biol. 2009 Mar;29(6):1649-60
pubmed: 19114550
Brain Pathol. 2017 May;27(3):345-355
pubmed: 27377427
Biochem Biophys Res Commun. 2007 Oct 26;362(3):734-9
pubmed: 17764659
Lancet Neurol. 2010 Sep;9(9):885-94
pubmed: 20723845
Cell. 1998 Oct 2;95(1):41-53
pubmed: 9778246
J Biol Chem. 2008 Mar 28;283(13):8283-90
pubmed: 18218637
Nature. 1997 Oct 30;389(6654):971-4
pubmed: 9353120
Nature. 2019 Apr;568(7751):235-239
pubmed: 30911168
Ann Clin Transl Neurol. 2015 Jan;2(1):79-101
pubmed: 25642438
Hum Mol Genet. 2017 Aug 15;26(16):3069-3080
pubmed: 28525545
Neuron. 2018 Mar 21;97(6):1235-1243.e5
pubmed: 29526553
PLoS One. 2012;7(11):e50705
pubmed: 23226359
Exp Neurol. 2009 Jan;215(1):110-8
pubmed: 18973756
Hum Mol Genet. 2003 Dec 1;12(23):3195-205
pubmed: 14559776
Neurotherapeutics. 2019 Oct;16(4):1050-1073
pubmed: 31435879
Neuroepidemiology. 2014;42(3):174-83
pubmed: 24603320
PLoS Biol. 2006 Mar;4(3):e67
pubmed: 16494529
J Biol Chem. 2004 Jan 30;279(5):3758-65
pubmed: 14583607
Cell. 2006 Dec 29;127(7):1335-47
pubmed: 17190598
Nat Neurosci. 2007 Dec;10(12):1519-28
pubmed: 17994014
Nat Rev Mol Cell Biol. 2007 Jul;8(7):519-29
pubmed: 17565364
Trends Genet. 2006 Oct;22(10):562-70
pubmed: 16911843
J Neurosci. 2002 Jun 15;22(12):4897-905
pubmed: 12077187
J Neurosci. 2017 Sep 20;37(38):9101-9115
pubmed: 28821675
Hum Mol Genet. 2000 Oct 12;9(17):2491-506
pubmed: 11030754
Hum Mol Genet. 2000 May 22;9(9):1303-13
pubmed: 10814712
Neurobiol Dis. 2008 Jul;31(1):89-101
pubmed: 18502140
Neurobiol Dis. 2012 Dec;48(3):526-32
pubmed: 22884877
EMBO Rep. 2007 Jul;8(7):671-7
pubmed: 17557114
J Biol Chem. 2013 Jun 14;288(24):17895-907
pubmed: 23645681
Neurobiol Dis. 2005 Dec;20(3):646-55
pubmed: 15936949
Nat Rev Genet. 2010 Apr;11(4):273-84
pubmed: 20212494
Hum Mol Genet. 2009 Nov 1;18(21):4141-52
pubmed: 19643914
Sci Transl Med. 2018 Oct 31;10(465):
pubmed: 30381411
Front Neurosci. 2016 Dec 15;10:572
pubmed: 28018166
J Neurosci. 2013 Jun 19;33(25):10471-82
pubmed: 23785159
Neurobiol Dis. 2019 Dec;132:104559
pubmed: 31376479
Hum Mol Genet. 2006 May 15;15(10):1587-99
pubmed: 16595610
PLoS Biol. 2016 Nov 16;14(11):e2000733
pubmed: 27851749
Prog Neurobiol. 2012 May;97(2):239-57
pubmed: 22133674