Functional defects of cancer-associated MDC1 mutations in DNA damage repair

Jackson, 2009, The DNA-damage response in human biology and disease, Nature, 461, 1071, 10.1038/nature08467 Ciccia, 2010, The DNA damage response: making it safe to play with knives, Mol. Cell, 40, 179, 10.1016/j.molcel.2010.09.019 Tubbs, 2017, Endogenous DNA damage as a source of genomic instability in cancer, Cell, 168, 644, 10.1016/j.cell.2017.01.002 Luo, 2011, Oligomerization of MDC1 protein is important for proper DNA damage response, J. Biol. Chem., 286, 28192, 10.1074/jbc.M111.258087 Mailand, 2007, RNF8 ubiquitylates histones at DNA double-strand breaks and promotes assembly of repair proteins, Cell, 131, 887, 10.1016/j.cell.2007.09.040 Ruff, 2020, Roles for MDC1 in cancer development and treatment, DNA Repair, 95, 10.1016/j.dnarep.2020.102948 Patel, 2011, Mediator of DNA damage checkpoint protein 1 (MDC1) expression as a prognostic marker for nodal recurrence in early-stage breast cancer patients treated with breast-conserving surgery and radiation therapy, Breast Cancer Res. Treat., 126, 601, 10.1007/s10549-010-0960-6 Zou, 2015, MDC1 enhances estrogen receptor-mediated transactivation and contributes to breast cancer suppression, Int. J. Biol. Sci., 11, 992, 10.7150/ijbs.10918 Choi, 2016, ATM mutations in cancer: therapeutic implications, Mol. Cancer Ther., 15, 1781, 10.1158/1535-7163.MCT-15-0945 Lou, 2006, MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals, Mol. Cell, 21, 187, 10.1016/j.molcel.2005.11.025 Salguero, 2019, MDC1 PST-repeat region promotes histone H2AX-independent chromatin association and DNA damage tolerance, Nat. Commun., 10, 5191, 10.1038/s41467-019-12929-5 Leimbacher, 2019, MDC1 interacts with TOPBP1 to maintain chromosomal stability during mitosis, Mol. Cell, 74, 571, 10.1016/j.molcel.2019.02.014 Stucki, 2005, MDC1 directly binds phosphorylated histone H2AX to regulate cellular responses to DNA double-strand breaks, Cell, 123, 1213, 10.1016/j.cell.2005.09.038 Lou, 2003, MDC1 is coupled to activated CHK2 in mammalian DNA damage response pathways, Nature, 421, 957, 10.1038/nature01447 Stewart, 2003, MDC1 is a mediator of the mammalian DNA damage checkpoint, Nature, 421, 961, 10.1038/nature01446 Watanabe, 2013, JMJD1C demethylates MDC1 to regulate the RNF8 and BRCA1-mediated chromatin response to DNA breaks, Nat. Struct. Mol. Biol., 20, 1425, 10.1038/nsmb.2702 Bu, 2010, NFBD1/MDC1 participates in the regulation of G2/M transition in mammalian cells, Biochem. Biophys. Res. Commun., 397, 157, 10.1016/j.bbrc.2010.05.063 Burgess, 2015, Not all DDRs are created equal: non-canonical DNA damage responses, Cell, 162, 944, 10.1016/j.cell.2015.08.006 Goldberg, 2003, MDC1 is required for the intra-S-phase DNA damage checkpoint, Nature, 421, 952, 10.1038/nature01445 Xu, 2003, NFBD1/MDC1 regulates ionizing radiation-induced focus formation by DNA checkpoint signaling and repair factors, FASEB J., 17, 1842, 10.1096/fj.03-0310com Liu, 2012, Structural mechanism of the phosphorylation-dependent dimerization of the MDC1 forkhead-associated domain, Nucleic Acids Res., 40, 3898, 10.1093/nar/gkr1296 Mahajan, 2008, Structure and function of the phosphothreonine-specific FHA domain, Sci. Signal., 1, re12, 10.1126/scisignal.151re12 Mohammad, 2009, 14-3-3 proteins, FHA domains and BRCT domains in the DNA damage response, DNA Repair, 8, 1009, 10.1016/j.dnarep.2009.04.004 Zhang, 2005, MDC1 interacts with Rad51 and facilitates homologous recombination, Nat. Struct. Mol. Biol., 12, 902, 10.1038/nsmb991 Bartkova, 2007, DNA damage response mediators MDC1 and 53BP1: constitutive activation and aberrant loss in breast and lung cancer, but not in testicular germ cell tumours, Oncogene, 26, 7414, 10.1038/sj.onc.1210553 Merentitis, 2019, Loss of MDC1 in endometrial carcinoma is associated with loss of MRN complex and MMR deficiency, Anticancer Res., 39, 6547, 10.21873/anticanres.13870 Zhou, 2018, SOX9 activity is induced by oncogenic Kras to affect MDC1 and MCMs expression in pancreatic cancer, Oncogene, 37, 912, 10.1038/onc.2017.393 Yuan, 2012, NFBD1/MDC1 is a protein of oncogenic potential in human cervical cancer, Mol. Cell. Biochem., 359, 333, 10.1007/s11010-011-1027-7 Cerami, 2012, The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data, Cancer Discov., 2, 401, 10.1158/2159-8290.CD-12-0095 Beltran, 2016, Divergent clonal evolution of castration-resistant neuroendocrine prostate cancer, Nat. Med., 22, 298, 10.1038/nm.4045 Hellmann, 2018, Genomic features of response to combination immunotherapy in patients with advanced non-small-cell lung cancer, Cancer Cell, 33, 843, 10.1016/j.ccell.2018.03.018 Jungmichel, 2010, MDC1: the art of keeping things in focus, Chromosoma, 119, 337, 10.1007/s00412-010-0266-9 Shang, 2003, NFBD1, a novel nuclear protein with signature motifs of FHA and BRCT, and an internal 41-amino acid repeat sequence, is an early participant in DNA damage response, J. Biol. Chem., 278, 6323, 10.1074/jbc.M210749200 Xie, 2007, Distinct roles of chromatin-associated proteins MDC1 and 53BP1 in mammalian double-strand break repair, Mol. Cell, 28, 1045, 10.1016/j.molcel.2007.12.005 Huen, 2007, RNF8 transduces the DNA-damage signal via histone ubiquitylation and checkpoint protein assembly, Cell, 131, 901, 10.1016/j.cell.2007.09.041 Yang, 2010, Growth inhibition, morphology change, and cell cycle alterations in NFBD1-depleted human esophageal cancer cells, Mol. Cell. Biochem., 342, 1, 10.1007/s11010-010-0460-3 Singh, 2020, MDC1 depletion promotes cisplatin induced cell death in cervical cancer cells, BMC Res. Notes, 13, 146, 10.1186/s13104-020-04996-5 Zeng, 2016, Knockdown of NFBD1/MDC1 enhances chemosensitivity to cisplatin or 5-fluorouracil in nasopharyngeal carcinoma CNE1 cells, Mol. Cell. Biochem., 418, 137, 10.1007/s11010-016-2739-5