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DNA损伤修复蛋白XRCC1的研究进展
作者:徐诚  严丽锋  王心如  顾爱华 
单位:南京医科大学 公共卫生学院, 江苏 南京 211100
关键词:X线修复交叉互补蛋白1 DNA修复 突变体 文献综述 
分类号:Q754
出版年·卷·期(页码):2014·33·第三期(376-380)
摘要:

X线修复交叉互补蛋白1(XRCC1)在碱基切除修复(BER)以及单链断裂损伤修复(SSBR)中起着支架蛋白的作用。XRCC1可以与多个DNA修复相关蛋白交互作用并招募到DNA损伤部位,最终完成DNA的修复。由于XRCC1在DNA修复通路的重要作用,主要突变体Arg194Trp、Arg280His 以及 Arg399Gln也被深入地研究。在本文中作者对XRCC1的结构、功能以及它的突变体在人类疾病发生中的作用作一概述。

参考文献:

[1] LAMERDIN J E,MONTGOMERY M A,STILWAGEN S A,et al.Genomic sequence comparison of the human and mouse XRCC1 DNA repair gene regions[J].Genomics,1995,25(2):547-554.
[2] BROOKMAN K W,TEBBS R S,ALLEN S A,et al.Isolation and characterization of mouse Xrcc-1,a DNA repair gene affecting ligation[J].Genomics,1994,22(1):180-188.
[3] LOIZOU J I,EL-KHAMISY S F,ZLATANOU A,et al.The protein kinase CK2 facilitates repair of chromosomal DNA single-strand breaks[J].Cell,2004,117(1):17-28.
[4] CALDECOTT K W,AOUFOUCHI S,JOHNSON P,et al.XRCC1 polypeptide interacts with DNA polymerase beta and possibly poly (ADP-ribose) polymerase,and DNA ligase III is a novel molecular "nick-sensor" in vitro[J].Nucleic Acids Res,1996,24(22):4387-4394.
[5] KUBOTA Y,NASH R A,KLUNGLAND A,et al.Reconstitution of DNA base excision-repair with purified human proteins:interaction between DNA polymerase beta and the XRCC1 protein[J].EMBO J,1996,15(23):6662-6670.
[6] DIANOVA,I I,SLEETH K M,ALLINSON S L,et al.XRCC1-DNA polymerase beta interaction is required for efficient base excision repair[J].Nucleic Acids Res,2004,32(8):2550-2555.
[7] BORK P,HOFMANN K,BUCHER P,et al.A superfamily of conserved domains in DNA damage-responsive cell cycle checkpoint proteins[J].FASEB J,1997,11(1):68-76.
[8] TAYLOR R M,THISTLETHWAITE A,CALDECOTT K W.Central role for the XRCC1 BRCT I domain in mammalian DNA single-strand break repair[J].Mol Cell Biol,2002,22(8):2556-2563.
[9] KUBOTA Y,HORIUCHI S.Independent roles of XRCC1's two BRCT motifs in recovery from methylation damage[J].DNA Repair (Amst),2003,2(4):407-415.
[10] PLESCHKE J M,KLECZKOWSKA H E,STROHM M,et al.Poly(ADP-ribose) binds to specific domains in DNA damage checkpoint proteins[J].J Biol Chem,2000,275(52):40974-40980.
[11] SCHREIBER V,AME J C,DOLLE P,et al.Poly(ADP-ribose) polymerase-2 (PARP-2) is required for efficient base excision DNA repair in association with PARP-1 and XRCC1[J].J Biol Chem,2002,277(25):23028-23036.
[12] MARSIN S,VIDAL A E,SOSSOU M,et al.Role of XRCC1 in the coordination and stimulation of oxidative DNA damage repair initiated by the DNA glycosylase hOGG1[J].J Biol Chem,2003,278(45):44068-44074.
[13] FAN J,OTTERLEI M,WONG H K,et al.XRCC1 co-localizes and physically interacts with PCNA[J].Nucleic Acids Res,2004,32(7):2193-2201.
[14] BEERNINK P T,HWANG M,RAMIREZ M,et al.Specificity of protein interactions mediated by BRCT domains of the XRCC1 DNA repair protein[J].J Biol Chem,2005,280(34):30206-30213.
[15] LEVY N,MARTZ A,BRESSON A,et al.XRCC1 is phosphorylated by DNA-dependent protein kinase in response to DNA damage[J].Nucleic Acids Res,2006,34(1):32-41.
[16] CUNEO M J,GABEL S A,KRAHN J M,et al.The structural basis for partitioning of the XRCC1/DNA ligase III-alpha BRCT-mediated dimer complexes[J].Nucleic Acids Res,2011,39(17):7816-7827.
[17] PRASAD R,SHOCK D D,BEARD W A,et al.Substrate channeling in mammalian base excision repair pathways:passing the baton[J].J Biol Chem,2010,285(52):40479-40488.
[18] PARLANTI E,LOCATELLI G,MAGA G,et al.Human base excision repair complex is physically associated to DNA replication and cell cycle regulatory proteins[J].Nucleic Acids Res,2007,35(5):1569-1577.
[19] AKBARI M,SOLVANG-GARTEN K,HANSSEN-BAUER A,et al.Direct interaction between XRCC1 and UNG2 facilitates rapid repair of uracil in DNA by XRCC1 complexes[J].DNA Repair (Amst),2010,9(7):785-795.
[20] HANSSEN-BAUER A,SOLVANG-GARTEN K,SUNDHEIM O,et al.XRCC1 coordinates disparate responses and multiprotein repair complexes depending on the nature and context of the DNA damage[J].Environ Mol Mutagen,2011,52(8):623-635.
[21] CALDECOTT K W,MCKEOWN C K,TUCKER J D,et al.An interaction between the mammalian DNA repair protein XRCC1 and DNA ligase Ⅲ[J].Mol Cell Biol,1994,14(1):68-76.
[22] AKBARI M,KROKAN H E.Base excision repair efficiency and mechanism in nuclear extracts are influenced by the ratio between volume of nuclear extraction buffer and nuclei-implications for comparative studies[J].Mutat Res,2012,736(1-2):33-38.
[23] OTTERLEI M,WARBRICK E,NAGELHUS T A,et al.Post-replicative base excision repair in replication foci[J].EMBO J,1999,18(13):3834-3844.
[24] EISSENBERG J C,AYYAGARI R,GOMES X V,et al.Mutations in yeast proliferating cell nuclear antigen define distinct sites for interaction with DNA polymerase delta and DNA polymerase epsilon[J].Mol Cell Biol,1997,17(11):6367-6378.
[25] HANSSEN-BAUER A,SOLVANG-GARTEN K,GILLJAM K M,et al.The region of XRCC1 which harbours the three most common nonsynonymous polymorphic variants,is essential for the scaffolding function of XRCC1[J].DNA Repair (Amst),2012,11(4):357-366.
[26] MASSON M,NIEDERGANG C,SCHREIBER V,et al.XRCC1 is specifically associated with poly(ADP-ribose) polymerase and negatively regulates its activity following DNA damage[J].Mol Cell Biol,1998,18(6):3563-3571.
[27] CAMPALANS A,MARSIN S,NAKABEPPU Y,et al.XRCC1 interactions with multiple DNA glycosylases:a model for its recruitment to base excision repair[J].DNA Repair (Amst),2005,4(7):826-835.
[28] XIA L,ZHENG L,LEE H W,et al.Human 3-methyladenine-DNA glycosylase:effect of sequence context on excision,association with PCNA,and stimulation by AP endonuclease[J].J Mol Biol,2005,346(5):1259-1274.
[29] BRYANT H E,PETERMANN E,SCHULTZ N,et al.PARP is activated at stalled forks to mediate Mre11-dependent replication restart and recombination[J].EMBO J,2009,28(17):2601-2615.
[30] TEBBS R S,FLANNERY M L,MENESES J J,et al.Requirement for the Xrcc1 DNA base excision repair gene during early mouse development[J].Dev Biol,1999,208(2):513-529.
[31] MCNEILL D R,LIN P C,MILLER M G,et al.XRCC1 haploinsufficiency in mice has little effect on aging,but adversely modifies exposure-dependent susceptibility[J].Nucleic Acids Res,2011,39(18):7992-8004.
[32] TEBBS R S,THOMPSON L H,CLEAVER J E.Rescue of Xrcc1 knockout mouse embryo lethality by transgene-complementation[J].DNA Repair (Amst),2003,2(12):1405-1417.
[33] LADIGES W C.Mouse models of XRCC1 DNA repair polymorphisms and cancer[J].Oncogene,2006,25(11):1612-1619.
[34] GINSBERG G,ANGLE K,GUYTON K,et al.Polymorphism in the DNA repair enzyme XRCC1:utility of current database and implications for human health risk assessment[J].Mutat Res,2011,727(1-2):1-15.
[35] BERQUIST B R,SINGH D K,FAN J,et al.Functional capacity of XRCC1 protein variants identified in DNA repair-deficient Chinese hamster ovary cell lines and the human population[J].Nucleic Acids Res,2010,38(15):5023-5035.
[36] XUE H,NI P,LIN B,et al.X-ray repair cross-complementing group 1 (XRCC1) genetic polymorphisms and gastric cancer risk:A HuGE review and meta-analysis[J].Am J Epidemiol,2011,173(4):363-375.
[37] HUANG J,ZHANG J,ZHAO Y,et al.The Arg194Trp polymorphism in the XRCC1 gene and cancer risk in Chinese Mainland population:a meta-analysis[J].Mol Biol Rep,2011,38(7):4565-4573.
[38] GSUR A,BERNHART K,BAIERL A,et al.No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk[J].Cancer Epidemiol,2011,35(5):e38-41.
[39] LI H,HA T C,TAI B C.XRCC1 gene polymorphisms and breast cancer risk in different populations:a meta-analysis[J].Breast,2009,18(3):183-191.
[40] JIANG J,LIANG X,ZHOU X,et al.DNA repair gene X-ray repair cross complementing group 1 Arg194Trp polymorphism on the risk of lung cancer:a meta-analysis on 22 studies[J].J Thorac Oncol,2010,5(11):1741-1747.
[41] 刘欢年,刘永萍,薛宏波,等.修复基因多态性与晚期肺癌顺铂化疗近期疗效的研究[J].现代医学,2013,41(9):659-661.
[42] 成红艳,陈宝安,孙新臣,等.ERCC1、XRCC1单核苷酸多态性与非小细胞肺癌铂类药物化疗预后关系的研究[J].东南大学学报:医学版,2011,30(5):717-721.
[43] LEE Y,KATYAL S,LI Y,et al.The genesis of cerebellar interneurons and the prevention of neural DNA damage require XRCC1[J].Nat Neurosci,2009,12(8):973-980.
[44] WEI X,CHEN D,LV T.A functional polymorphism in XRCC1 is associated with glioma risk:evidence from a meta-analysis[J].Mol Biol Rep,2013,40(1):567-572.
[45] GENCER M,DASDEMIR S,CAKMAKOGLU B,et al.DNA repair genes in Parkinson's disease[J].Genet Test Mol Biomarkers,2012,16(6):504-507.
[46] COPPEDE F,MIGHELI F,LO GERFO A,et al.Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis[J].Amyotroph Lateral Scler,2010,11(1-2):122-124.
[47] YOSUNKAYA E,KUCUKYURUK B,ONARAN I,et al.Glioma risk associates with polymorphisms of DNA repair genes,XRCC1 and PARP1[J].Br J Neurosurg,2010,24(5):561-565.
[48] RAJARAMAN P,HUTCHINSON A,WICHNER S,et al.DNA repair gene polymorphisms and risk of adult meningioma,glioma,and acoustic neuroma[J].Neuro Oncol,2010,12(1):37-48.

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