The expansion of trinucleotide repeat (TNR) sequences in human DNA is considered to be a key factor in the pathogenesis of more than 40 neurodegenerative diseases. TNR expansion occurs during DNA replication and also, as suggested by recent studies, during the repair of DNA lesions produced by oxidative stress. In particular, the oxidized guanine base 8-oxoguanine within sequences containing CAG repeats may induce formation of pro-expansion intermediates through strand slippage during DNA base excision repair (BER). In this article, we describe how oxidized DNA lesions are repaired by BER and discuss the importance of the coordinated activities of the key repair enzymes, such as DNA polymerase β, flap endonuclease 1 (FEN1) and DNA ligase, in preventing strand slippage and TNR expansion.
Mol Cell Biol. 2003 May;23(9):3152-62
[PMID:
12697816]
Biochemistry. 2008 Jan 22;47(3):1043-50
[PMID:
18154319]
J Biol Chem. 2003 Apr 18;278(16):13728-39
[PMID:
12554738]
Mol Cell. 1999 Dec;4(6):1079-85
[PMID:
10635332]
J Biol Chem. 2005 Feb 4;280(5):3665-74
[PMID:
15561706]
Mol Cell Biol. 2003 Sep;23(17):6063-74
[PMID:
12917330]
Mol Cell Biol. 2007 Sep;27(17):6209-17
[PMID:
17591697]
Hum Mutat. 2010 May;31(5):611-6
[PMID:
20213777]
Clin Genet. 2001 Feb;59(2):122-7
[PMID:
11260214]
Annu Rev Biochem. 1999;68:255-85
[PMID:
10872450]
Oncogene. 2005 Feb 17;24(8):1328-37
[PMID:
15608683]
J Biol Chem. 2000 Apr 7;275(14):10498-505
[PMID:
10744741]
Hum Mol Genet. 2003 Dec 15;12(24):3359-67
[PMID:
14570710]
Nat Rev Genet. 2005 Oct;6(10):729-42
[PMID:
16205713]
FEBS Lett. 2006 Oct 2;580(22):5208-14
[PMID:
16978612]
J Biol Chem. 2010 Dec 24;285(52):40479-88
[PMID:
20952393]
Biochemistry. 2009 Jul 21;48(28):6655-63
[PMID:
19527055]
Genetics. 2002 Jan;160(1):13-23
[PMID:
11805041]
Mol Cell. 2007 Sep 7;27(5):829-41
[PMID:
17803946]
Science. 1992 Aug 28;257(5074):1220-4
[PMID:
1355616]
Nucleic Acids Res. 2005 Jul 08;33(12):3785-98
[PMID:
16006624]
DNA Repair (Amst). 2007 Apr 1;6(4):544-59
[PMID:
17112792]
DNA Repair (Amst). 2011 Aug 15;10(8):887-96
[PMID:
21727036]
Nat Genet. 1999 Dec;23(4):471-3
[PMID:
10581038]
Nat Struct Mol Biol. 2006 Feb;13(2):179-80
[PMID:
16388310]
J Biol Chem. 2002 Aug 23;277(34):31115-23
[PMID:
12063248]
Nat Struct Mol Biol. 2009 Aug;16(8):869-75
[PMID:
19597480]
Cell Res. 2008 Jan;18(1):27-47
[PMID:
18166975]
J Biol Chem. 2001 Feb 2;276(5):3408-16
[PMID:
11024043]
DNA Repair (Amst). 2008 Jul 1;7(7):1121-34
[PMID:
18472310]
Nat Genet. 2001 Apr;27(4):407-11
[PMID:
11279522]
Biochim Biophys Acta. 2010 Jan-Feb;1799(1-2):119-30
[PMID:
20123074]
Cell. 2011 Apr 15;145(2):198-211
[PMID:
21496641]
J Biol Chem. 2002 Apr 26;277(17):14379-89
[PMID:
11825897]
Mov Disord. 1999 Nov;14(6):972-80
[PMID:
10584672]
Cell. 1997 Jan 24;88(2):253-63
[PMID:
9008166]
PLoS Genet. 2009 Dec;5(12):e1000749
[PMID:
19997493]
Nat Struct Mol Biol. 2005 Aug;12(8):663-70
[PMID:
16025128]
Nucleic Acids Res. 1999 Jan 15;27(2):616-23
[PMID:
9862988]
Nucleic Acids Res. 2011 Sep 1;39(17):7444-54
[PMID:
21666257]
Science. 1998 Feb 6;279(5352):853-6
[PMID:
9452383]
Annu Rev Neurosci. 1996;19:79-107
[PMID:
8833437]
Hum Mol Genet. 1998 Jan;7(1):69-74
[PMID:
9384605]
EMBO J. 1997 Jun 2;16(11):3341-8
[PMID:
9214649]
Nature. 2007 May 24;447(7143):447-52
[PMID:
17450122]
Chem Rev. 2006 Feb;106(2):361-82
[PMID:
16464010]
J Neurochem. 2001 Dec;79(6):1246-9
[PMID:
11752065]
Mutat Res. 2009 Mar 31;674(1-2):73-84
[PMID:
18952194]
J Biol Chem. 1996 Feb 9;271(6):2875-8
[PMID:
8621672]
Hum Mol Genet. 1997 Jul;6(7):1117-23
[PMID:
9215683]
J Biol Chem. 2000 Jun 2;275(22):16420-7
[PMID:
10748145]
J Biol Chem. 2004 Nov 12;279(46):47411-4
[PMID:
15326170]
Science. 1995 Jul 14;269(5221):238-40
[PMID:
7618086]
Proc Natl Acad Sci U S A. 1997 Jul 22;94(15):8010-5
[PMID:
9223305]
Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):1823-5
[PMID:
10051552]
EMBO J. 2000 May 15;19(10):2381-90
[PMID:
10811629]
J Neurosci Methods. 2008 Jun 30;171(2):233-8
[PMID:
18466979]
Nature. 2004 Jun 24;429(6994):883-91
[PMID:
15190254]
Mutat Res. 2003 Oct 29;531(1-2):37-80
[PMID:
14637246]
Mol Cell Biol. 1998 May;18(5):2779-88
[PMID:
9566897]
Nat Struct Mol Biol. 2005 Aug;12(8):654-62
[PMID:
16025129]
J Biol Chem. 1997 Feb 21;272(8):4647-50
[PMID:
9081985]
J Biol Chem. 2010 Sep 10;285(37):28514-9
[PMID:
20643645]
Hum Mol Genet. 2000 Oct 12;9(17):2539-44
[PMID:
11030759]
Mol Cell Biol. 2004 May;24(9):4049-64
[PMID:
15082797]
Mol Cell Biol. 1999 Aug;19(8):5675-84
[PMID:
10409756]
J Biol Chem. 2009 Oct 9;284(41):28352-28366
[PMID:
19674974]
Annu Rev Biochem. 2004;73:589-615
[PMID:
15189154]
Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10003-8
[PMID:
9707590]
Cell Mol Life Sci. 2010 Nov;67(21):3633-47
[PMID:
20844920]
Nat Struct Mol Biol. 2005 Aug;12(8):635-7
[PMID:
16077722]
Gene. 2007 May 15;393(1-2):110-5
[PMID:
17383831]
Gene. 2005 Feb 28;347(1):35-41
[PMID:
15715978]
Nat Rev Genet. 2010 Nov;11(11):786-99
[PMID:
20953213]
