Genetic variants and mutations of PPM1D control the response to DNA damage

References

• Hirasawa A, Saito-Ohara F, Inoue J, Aoki D, Susumu N, Yokoyama T, et al. Association of 17q21-q24 gain in ovarian clear cell adenocarcinomas with poor prognosis and identification of PPM1D and APPBP2 as likely amplification targets. Clin Cancer Res 2003; 9:1995 - 2004; PMID: 12796361
   PubMed Web of Science ®Google Scholar
• Saito-Ohara F, Imoto I, Inoue J, Hosoi H, Nakagawara A, Sugimoto T, et al. PPM1D is a potential target for 17q gain in neuroblastoma. Cancer Res 2003; 63:1876 - 83; PMID: 12702577
   PubMed Web of Science ®Google Scholar
• Loukopoulos P, Shibata T, Katoh H, Kokubu A, Sakamoto M, Yamazaki K, et al. Genome-wide array-based comparative genomic hybridization analysis of pancreatic adenocarcinoma: identification of genetic indicators that predict patient outcome. Cancer Sci 2007; 98:392 - 400; http://dx.doi.org/10.1111/j.1349-7006.2007.00395.x; PMID: 17233815
   PubMed Web of Science ®Google Scholar
• Castellino RC, De Bortoli M, Lu X, Moon SH, Nguyen TA, Shepard MA, et al. Medulloblastomas overexpress the p53-inactivating oncogene WIP1/PPM1D. J Neurooncol 2008; 86:245 - 56; http://dx.doi.org/10.1007/s11060-007-9470-8; PMID: 17932621
   PubMed Web of Science ®Google Scholar
• Natrajan R, Lambros MB, Rodríguez-Pinilla SM, Moreno-Bueno G, Tan DS, Marchió C, et al. Tiling path genomic profiling of grade 3 invasive ductal breast cancers. Clin Cancer Res 2009; 15:2711 - 22; http://dx.doi.org/10.1158/1078-0432.CCR-08-1878; PMID: 19318498
   PubMed Web of Science ®Google Scholar
• Tan DS, Lambros MB, Rayter S, Natrajan R, Vatcheva R, Gao Q, et al. PPM1D is a potential therapeutic target in ovarian clear cell carcinomas. Clin Cancer Res 2009; 15:2269 - 80; http://dx.doi.org/10.1158/1078-0432.CCR-08-2403; PMID: 19293255
   PubMed Web of Science ®Google Scholar
• Shreeram S, Demidov ON, Hee WK, Yamaguchi H, Onishi N, Kek C, et al. Wip1 phosphatase modulates ATM-dependent signaling pathways. Mol Cell 2006; 23:757 - 64; http://dx.doi.org/10.1016/j.molcel.2006.07.010; PMID: 16949371
   PubMed Web of Science ®Google Scholar
• Lu X, Ma O, Nguyen TA, Jones SN, Oren M, Donehower LA. The Wip1 Phosphatase acts as a gatekeeper in the p53-Mdm2 autoregulatory loop. Cancer Cell 2007; 12:342 - 54; http://dx.doi.org/10.1016/j.ccr.2007.08.033; PMID: 17936559
   PubMed Web of Science ®Google Scholar
• Fujimoto H, Onishi N, Kato N, Takekawa M, Xu XZ, Kosugi A, et al. Regulation of the antioncogenic Chk2 kinase by the oncogenic Wip1 phosphatase. Cell Death Differ 2006; 13:1170 - 80; http://dx.doi.org/10.1038/sj.cdd.4401801; PMID: 16311512
   PubMed Web of Science ®Google Scholar
• Yoda A, Xu XZ, Onishi N, Toyoshima K, Fujimoto H, Kato N, et al. Intrinsic kinase activity and SQ/TQ domain of Chk2 kinase as well as N-terminal domain of Wip1 phosphatase are required for regulation of Chk2 by Wip1. J Biol Chem 2006; 281:24847 - 62; http://dx.doi.org/10.1074/jbc.M600403200; PMID: 16798742
   PubMed Web of Science ®Google Scholar
• Lu X, Nannenga B, Donehower LA. PPM1D dephosphorylates Chk1 and p53 and abrogates cell cycle checkpoints. Genes Dev 2005; 19:1162 - 74; http://dx.doi.org/10.1101/gad.1291305; PMID: 15870257
   PubMed Web of Science ®Google Scholar
• Bulavin DV, Phillips C, Nannenga B, Timofeev O, Donehower LA, Anderson CW, et al. Inactivation of the Wip1 phosphatase inhibits mammary tumorigenesis through p38 MAPK-mediated activation of the p16(Ink4a)-p19(Arf) pathway. Nat Genet 2004; 36:343 - 50; http://dx.doi.org/10.1038/ng1317; PMID: 14991053
   PubMed Web of Science ®Google Scholar
• Shreeram S, Hee WK, Demidov ON, Kek C, Yamaguchi H, Fornace AJ Jr., et al. Regulation of ATM/p53-dependent suppression of myc-induced lymphomas by Wip1 phosphatase. J Exp Med 2006; 203:2793 - 9; http://dx.doi.org/10.1084/jem.20061563; PMID: 17158963
   PubMed Web of Science ®Google Scholar
• Demidov ON, Timofeev O, Lwin HN, Kek C, Appella E, Bulavin DV. Wip1 phosphatase regulates p53-dependent apoptosis of stem cells and tumorigenesis in the mouse intestine. Cell Stem Cell 2007; 1:180 - 90; http://dx.doi.org/10.1016/j.stem.2007.05.020; PMID: 18371349
   PubMed Web of Science ®Google Scholar
• Nannenga B, Lu X, Dumble M, Van Maanen M, Nguyen TA, Sutton R, et al. Augmented cancer resistance and DNA damage response phenotypes in PPM1D null mice. Mol Carcinog 2006; 45:594 - 604; http://dx.doi.org/10.1002/mc.20195; PMID: 16652371
   PubMed Web of Science ®Google Scholar
• Le Guezennec X, Brichkina A, Huang YF, Kostromina E, Han W, Bulavin DV. Wip1-dependent regulation of autophagy, obesity, and atherosclerosis. Cell Metab 2012; 16:68 - 80; http://dx.doi.org/10.1016/j.cmet.2012.06.003; PMID: 22768840
   PubMed Web of Science ®Google Scholar
• Schork NJ, Fallin D, Lanchbury JS. Single nucleotide polymorphisms and the future of genetic epidemiology. Clin Genet 2000; 58:250 - 64; http://dx.doi.org/10.1034/j.1399-0004.2000.580402.x; PMID: 11076050
   PubMed Web of Science ®Google Scholar
• Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, et al, Breast and Ovarian Cancer Susceptibility Collaboration, Wellcome Trust Case Control Consortium. Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature 2013; 493:406 - 10; http://dx.doi.org/10.1038/nature11725; PMID: 23242139
   PubMed Web of Science ®Google Scholar
• Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, et al. Human gene mutation database-a biomedical information and research resource. Hum Mutat 2000; 15:45 - 51; http://dx.doi.org/10.1002/(SICI)1098-1004(200001)15:1<45::AID-HUMU10>3.0.CO;2-T; PMID: 10612821
   PubMed Web of Science ®Google Scholar
• Becker-Catania SG, Chen G, Hwang MJ, Wang Z, Sun X, Sanal O, et al. Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity. Mol Genet Metab 2000; 70:122 - 33; http://dx.doi.org/10.1006/mgme.2000.2998; PMID: 10873394
   PubMed Web of Science ®Google Scholar
• Kleiblova P, Shaltiel IA, Benada J, Ševčík J, Pecháčková S, Pohlreich P, et al. Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint. J Cell Biol 2013; 201:511 - 21; http://dx.doi.org/10.1083/jcb.201210031; PMID: 23649806
   PubMed Web of Science ®Google Scholar
• Bulavin DV, Demidov ON, Saito S, Kauraniemi P, Phillips C, Amundson SA, et al. Amplification of PPM1D in human tumors abrogates p53 tumor-suppressor activity. Nat Genet 2002; 31:210 - 5; http://dx.doi.org/10.1038/ng894; PMID: 12021785
   PubMed Web of Science ®Google Scholar
• Li Y, Zhao H, Sun L, Huang L, Yang Q, Kong B. MDM2 SNP309 is associated with endometrial cancer susceptibility: a meta-analysis. Hum Cell 2011; 24:57 - 64; http://dx.doi.org/10.1007/s13577-011-0013-4; PMID: 21547352
   PubMed Web of Science ®Google Scholar
• Palanca Suela S, Esteban Cardeñosa E, Barragán González E, de Juan Jiménez I, Chirivella González I, Segura Huerta A, et al, Group for Assessment of Hereditary Cancer of Valencia Community. CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. Breast Cancer Res Treat 2010; 119:87 - 93; http://dx.doi.org/10.1007/s10549-009-0316-2; PMID: 19214744
   PubMed Web of Science ®Google Scholar
• Emsley P, Lohkamp B, Scott WG, Cowtan K. Features and development of Coot. Acta Crystallogr D Biol Crystallogr 2010; 66:486 - 501; http://dx.doi.org/10.1107/S0907444910007493; PMID: 20383002
   PubMed Web of Science ®Google Scholar
• Das AK, Helps NR, Cohen PT, Barford D. Crystal structure of the protein serine/threonine phosphatase 2C at 2.0 A resolution. EMBO J 1996; 15:6798 - 809; PMID: 9003755
   PubMed Web of Science ®Google Scholar
• Yamaguchi H, Minopoli G, Demidov ON, Chatterjee DK, Anderson CW, Durell SR, et al. Substrate specificity of the human protein phosphatase 2Cdelta, Wip1. Biochemistry 2005; 44:5285 - 94; http://dx.doi.org/10.1021/bi0476634; PMID: 15807522
   PubMed Web of Science ®Google Scholar