AT丰富结合域1A基因ARID1A在恶性肿瘤中的研究进展
|
摘要
ARID1A是染色质重塑复合物SWI/SNF中的一种非催化亚基,具有非序列特异性DNA结合活性,参与DNA的复制、转录、修复、重组等,在消化道肿瘤、妇科肿瘤、肺腺癌等多种肿瘤中存在频繁的基因突变。全文介绍了ARID1A基因的基本结构特征、生物学功能、基因突变与恶性肿瘤发生发展的关系以及潜在治疗靶点等,以期为肿瘤诊断、治疗提供新思路。
ARID1 A(the AT-rich interactive Domain 1 A) is a non-catalytic subunit of chromatin-remodeling complexes SWI/SNF,which has non-sequence-specific DNA binding activity and plays important roles in replication,transcription,repair and recombination of DNA. ARID1 A has frequent gene mutations in gastrointestinal cancer,gynecological cancer,lungs adenocarcinoma and other cancers. This article describes the basic structure and biological function of ARID1 A gene,the relationship between ARID1 A gene mutation and the occurrence and development of malignant tumors,and the potential therapeutic targets for the diagnosis and treatment of tumors.
ARID1 A(the AT-rich interactive Domain 1 A) is a non-catalytic subunit of chromatin-remodeling complexes SWI/SNF,which has non-sequence-specific DNA binding activity and plays important roles in replication,transcription,repair and recombination of DNA. ARID1 A has frequent gene mutations in gastrointestinal cancer,gynecological cancer,lungs adenocarcinoma and other cancers. This article describes the basic structure and biological function of ARID1 A gene,the relationship between ARID1 A gene mutation and the occurrence and development of malignant tumors,and the potential therapeutic targets for the diagnosis and treatment of tumors.
引文
[1]Guo XQ,Zhang QX,Huang WR,et al.Tumor suppressor role of chromatin-remodeling factor ARID1A[J].Hereditas,2013,35(3):255-261.[郭晓强,张巧霞,黄卫人,等.染色质重塑因子ARID1A的肿瘤抑制作用[J].遗传,2013,35(3):255-261.]
[2]Flores-Alcantar A,Gonzalez-Sandoval A,Escalante-Alcalde D,et al.Dynamics of expression of ARID1A and ARID1B subunits in mouse embryos and in cells during the cell cycle[J].Cell Tissue Res,2011,345(1):137-148.
[3]Wu RC,Wang TL,Shih IM.The emerging roles of ARID1A in tumor suppression[J].Cancer Biol Ther,2014,15(6):655-664.
[4]Zeng Y,Liu Z,Yang J,et al.ARID1A is a tumour suppressor and inhibits glioma cell proliferation via the PI3Kpathway[J].Head Neck Oncol,2013,5(1):6.
[5]Yamamoto S,Tsuda H,Takano M,et al.Loss of ARID1Aprotein expression occurs as an early event in ovarian clear-cell carcinoma development and frequently coexists with PIK3CA mutations[J].Mod Pathol,2012,25(4):615-624.
[6]Zang ZJ,Cutcutache I,Poon SL,et al.Exome sequencing of gastric adenocarcinoma identi覱es recurrent somatic mutations in cell adhesion and chromatin remodeling genes[J].Nat Genet,2012,44(5):570-574.
[7]Liang H,Cheung LW,Li J,et al.Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer[J].Genome Res,2012,22(11):2120-2129.
[8]He SY,Wang L,Yang Y,et al.Changes and significance of ARID1A,PDCD4 and MCL-1 in colorectal cancer[J].Shandong Medicine,2016,56(10):33-35.[何胜悦,王璐,杨扬,等.结直肠癌组织中ARID1A、PDCD4及MCL-1表达变化及意义[J].山东医药,2016,56(10):33-35.]
[9]Lans H,Marteijn JA,Vermeulen W.ATP-dependent chromatin remodeling in the DNA-damage response[J].Epigenetics Chromatin,2012,5:4.
[10]Wu JN,Roberts CW.ARID1A mutations in cancer:another epigenetic tumor suppressor?[J].Cancer Discov,2013,3(1):35-43.
[11]Mamo A,Cavallone L,Tuzmen S,et al.An integrated genomic approach identifies ARID1A as a candidate tumorsuppressor gene in breast cancer[J].Oncogene,2012,31(16):2090-2100.
[12]Guan B,Gao M,Wu CH,et al.Functional analysis of inframe indel ARID1A mutations reveals new regulatory mechanisms of its tumor suppressor functions[J].Neoplasia,2012,14(10):986-993.
[13]Giulino-Roth L,Wang K,Mac Donald TY,et al.Targeted genomic sequencing of pediatric Burkitt lymphoma identifies recurrent alterations in antiapoptotic and chromatin-remodeling genes[J].Blood,2012,120(26):5181-5184.
[14]Sausen M,Leary RJ,Jones S,et al.Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma[J].Nat Genet,2013,45(1):12-17.
[15]Imielinski M,Berger AH,Hammerman PS,et al.Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing[J].Cell,2012,150(6):1107-1120.
[16]Le Gallo M,O’Hara AJ,Rudd ML,et al.Exome sequencing of serous endometrial tumors identi覱es recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes[J].Nat Genet,2012,44(12):1310-1315.
[17]Cancer Genome Atlas Network.Comprehensive molecular characterization of human colon and rectal cance[J].Nature,2012,487(7407):330-337.
[18]Biankin AV,Waddell N,Kassahn KS,et al.Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes[J].Nature,2012,491(7424):399-405.
[19]Balbas-Martinez C,Rodriguez-Pinilla M,Casanova A,et al.ARID1A alterations are associated with FGFR3-wild type,poor-prognosis,urothelial bladder tumors[J].PLoSOne,2013,8(5):e62483.
[20]Zhang J,Grubor V,Love CL,et al.Genetic heterogeneity of diffuse large B-cell lymphoma[J].Proc Natl Acad Sci USA,2013,110(4):1398-1403.
[21]Jones S,Li M,Parsons DW,et al.Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types[J].Hum Mutat,2012,33:100-103.
[22]Bosse T,ter Haar NT,Seeber LM,et al.Loss of ARID1Aexpression and its relationship with PI3K-Akt pathway alterations,TP53 and microsatellite instability in endometrial cancer[J].Mod Pathol,2013,26:1525-1535.
[23]Wei XL,Wang DS,Xi SY,et al.Clinicopathologic and prognostic relevance of ARID1A protein loss in colorectal cancer[J].World J Gastroenterol,2014,20(48):18404-18412.
[24]Bitler BG,Fatkhutdinov N,Zhang R.Potential therapeutic targets in ARID1A-mutated cancers[J].Expert Opin Ther Targets,2017,19(11):1419.
[25]Fillmore CM,Xu C,Desai PT,et al.EZH2 inhibition sensitizes BRG1 and EGFR mutant lung tumours to TopoⅡinhibitors[J].Nature,2015,520(7546):239-242.
[26]Shiloh Y,Ziv Y.The ATM protein kinase:regulating the cellular response to genotoxic stress,and more[J].Nat Rev Mol Cell Biol,2013,14(4):197-210.
[27]Shen J,Peng Y,Wei L,et al.ARID1A deficiency impairs the DNA damage checkpoint and sensitizes cells to PARPinhibitors[J].Cancer Discov,2015,5(7):752-767.
[28]Williamson CT,Miller R,Pemberton HN,et al.ATR inhibitors as a synthetic lethal therapy for tumours deficient in ARID1A[J].Nat Commun,2016,7:13837.
[29]Wiegand KC,Hennessy BT,Leung S,et al.A functional proteogenomic analysis of endometrioid and clear cell carcinomas using reverse phase protein array and mutation analysis:protein expression is histotype-specific and loss of ARID1A/BAF250a is associated with AKT phosphorylation Nat Commun[J].BMC Cancer,2014,14:120.
[30]Chandler RL,Damrauer JS,Raab JR,et al.Coexistent ARID1A-PIK3CA mutations promote ovarian clear-cell tumorigenesis through pro-tumorigenic inflammatory cytokine signalling[J].Nat Commun,2015,6:6118.
[31]Supek F,Miana B,Valcárcel J,et al.synonymous mutations frequently act as driver mutations in human cancers[J].2014,156(6):1324-1335.
[32]Meijer A,Kruyt FA,van der Zee AG,et al.Nutlin-3 preferentially sensitizes wild-type p53-expressing cancer cells to DR5-selective TRAIL over rhTRAIL[J].Br J Cancer,2013,109(10):2685-2695.
[2]Flores-Alcantar A,Gonzalez-Sandoval A,Escalante-Alcalde D,et al.Dynamics of expression of ARID1A and ARID1B subunits in mouse embryos and in cells during the cell cycle[J].Cell Tissue Res,2011,345(1):137-148.
[3]Wu RC,Wang TL,Shih IM.The emerging roles of ARID1A in tumor suppression[J].Cancer Biol Ther,2014,15(6):655-664.
[4]Zeng Y,Liu Z,Yang J,et al.ARID1A is a tumour suppressor and inhibits glioma cell proliferation via the PI3Kpathway[J].Head Neck Oncol,2013,5(1):6.
[5]Yamamoto S,Tsuda H,Takano M,et al.Loss of ARID1Aprotein expression occurs as an early event in ovarian clear-cell carcinoma development and frequently coexists with PIK3CA mutations[J].Mod Pathol,2012,25(4):615-624.
[6]Zang ZJ,Cutcutache I,Poon SL,et al.Exome sequencing of gastric adenocarcinoma identi覱es recurrent somatic mutations in cell adhesion and chromatin remodeling genes[J].Nat Genet,2012,44(5):570-574.
[7]Liang H,Cheung LW,Li J,et al.Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer[J].Genome Res,2012,22(11):2120-2129.
[8]He SY,Wang L,Yang Y,et al.Changes and significance of ARID1A,PDCD4 and MCL-1 in colorectal cancer[J].Shandong Medicine,2016,56(10):33-35.[何胜悦,王璐,杨扬,等.结直肠癌组织中ARID1A、PDCD4及MCL-1表达变化及意义[J].山东医药,2016,56(10):33-35.]
[9]Lans H,Marteijn JA,Vermeulen W.ATP-dependent chromatin remodeling in the DNA-damage response[J].Epigenetics Chromatin,2012,5:4.
[10]Wu JN,Roberts CW.ARID1A mutations in cancer:another epigenetic tumor suppressor?[J].Cancer Discov,2013,3(1):35-43.
[11]Mamo A,Cavallone L,Tuzmen S,et al.An integrated genomic approach identifies ARID1A as a candidate tumorsuppressor gene in breast cancer[J].Oncogene,2012,31(16):2090-2100.
[12]Guan B,Gao M,Wu CH,et al.Functional analysis of inframe indel ARID1A mutations reveals new regulatory mechanisms of its tumor suppressor functions[J].Neoplasia,2012,14(10):986-993.
[13]Giulino-Roth L,Wang K,Mac Donald TY,et al.Targeted genomic sequencing of pediatric Burkitt lymphoma identifies recurrent alterations in antiapoptotic and chromatin-remodeling genes[J].Blood,2012,120(26):5181-5184.
[14]Sausen M,Leary RJ,Jones S,et al.Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma[J].Nat Genet,2013,45(1):12-17.
[15]Imielinski M,Berger AH,Hammerman PS,et al.Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing[J].Cell,2012,150(6):1107-1120.
[16]Le Gallo M,O’Hara AJ,Rudd ML,et al.Exome sequencing of serous endometrial tumors identi覱es recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes[J].Nat Genet,2012,44(12):1310-1315.
[17]Cancer Genome Atlas Network.Comprehensive molecular characterization of human colon and rectal cance[J].Nature,2012,487(7407):330-337.
[18]Biankin AV,Waddell N,Kassahn KS,et al.Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes[J].Nature,2012,491(7424):399-405.
[19]Balbas-Martinez C,Rodriguez-Pinilla M,Casanova A,et al.ARID1A alterations are associated with FGFR3-wild type,poor-prognosis,urothelial bladder tumors[J].PLoSOne,2013,8(5):e62483.
[20]Zhang J,Grubor V,Love CL,et al.Genetic heterogeneity of diffuse large B-cell lymphoma[J].Proc Natl Acad Sci USA,2013,110(4):1398-1403.
[21]Jones S,Li M,Parsons DW,et al.Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types[J].Hum Mutat,2012,33:100-103.
[22]Bosse T,ter Haar NT,Seeber LM,et al.Loss of ARID1Aexpression and its relationship with PI3K-Akt pathway alterations,TP53 and microsatellite instability in endometrial cancer[J].Mod Pathol,2013,26:1525-1535.
[23]Wei XL,Wang DS,Xi SY,et al.Clinicopathologic and prognostic relevance of ARID1A protein loss in colorectal cancer[J].World J Gastroenterol,2014,20(48):18404-18412.
[24]Bitler BG,Fatkhutdinov N,Zhang R.Potential therapeutic targets in ARID1A-mutated cancers[J].Expert Opin Ther Targets,2017,19(11):1419.
[25]Fillmore CM,Xu C,Desai PT,et al.EZH2 inhibition sensitizes BRG1 and EGFR mutant lung tumours to TopoⅡinhibitors[J].Nature,2015,520(7546):239-242.
[26]Shiloh Y,Ziv Y.The ATM protein kinase:regulating the cellular response to genotoxic stress,and more[J].Nat Rev Mol Cell Biol,2013,14(4):197-210.
[27]Shen J,Peng Y,Wei L,et al.ARID1A deficiency impairs the DNA damage checkpoint and sensitizes cells to PARPinhibitors[J].Cancer Discov,2015,5(7):752-767.
[28]Williamson CT,Miller R,Pemberton HN,et al.ATR inhibitors as a synthetic lethal therapy for tumours deficient in ARID1A[J].Nat Commun,2016,7:13837.
[29]Wiegand KC,Hennessy BT,Leung S,et al.A functional proteogenomic analysis of endometrioid and clear cell carcinomas using reverse phase protein array and mutation analysis:protein expression is histotype-specific and loss of ARID1A/BAF250a is associated with AKT phosphorylation Nat Commun[J].BMC Cancer,2014,14:120.
[30]Chandler RL,Damrauer JS,Raab JR,et al.Coexistent ARID1A-PIK3CA mutations promote ovarian clear-cell tumorigenesis through pro-tumorigenic inflammatory cytokine signalling[J].Nat Commun,2015,6:6118.
[31]Supek F,Miana B,Valcárcel J,et al.synonymous mutations frequently act as driver mutations in human cancers[J].2014,156(6):1324-1335.
[32]Meijer A,Kruyt FA,van der Zee AG,et al.Nutlin-3 preferentially sensitizes wild-type p53-expressing cancer cells to DR5-selective TRAIL over rhTRAIL[J].Br J Cancer,2013,109(10):2685-2695.