Expression of TopBP1 in hereditary breast cancer
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- 作者：Ewa Forma (1) eforma@biol.uni.lodz.pl
Anna Krzeslak (1)
Magdalena Bernaciak (1)
Hanna Romanowicz-Makowska (2)
Magdalena Brys (1) - 关键词：TopBP1 – ; Gene – ; Protein – ; Expression profiling – ; Hereditary breast cancer
- 刊名：Molecular Biology Reports
- 出版年：2012
- 出版时间：July 2012
- 年：2012
- 卷：39
- 期：7
- 页码：7795-7804
- 全文大小：413.4 KB
- 参考文献：1. Wright RHG, Dorman ES, Donaldson MM, Morgan IM (2006) TopBP1 contains a transcriptional activation domain suppressed by two adjacent BRCT domains. Biochem J 400:573–582
2. Yamane K, Kawabat M, Tsuruo T (1997) A DNA-topoisomerase-II-binding protein with eight repeating regions similar to DNA-repair enzymes and to a cell-cycle regulator. Eur J Biochem 256:794–799
3. Kim JE, McAvoy AA, Smith DI, Chen J (2005) Human TopBP1 ensures genome integrity during normal S phase. Mol Cell Biol 25:10907–10915
4. Yamane K, Tsuruo T (1999) Conserved BRCT regions of TopBP1 and of the tumor suppressor BRCA1 bind strand breaks and termini of DNA. Oncogene 18:5194–5203
5. Cescutti R, Negrini S, Kohzaki M, Halazonetis TD (2010) TopBP1 functions with 53BP1 in the G1 DNA damage checkpoint. EMBO J 29:3723–3732
6. Karppinen SM, Erkko H, Reini K, Pospiech H, Heikkinen K, Rapakko K, Syvaoja JE, Winqvist R (2006) Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer. Eur J Cancer 42:2647–2652
7. Yamane K, Chen J, Kinsella TJ (2003) Both DNA topoisomerase II-binding protein 1 and BRCA1 regulate the G2-M cell cycle checkpoint. Cancer Res 63:3049–3053
8. Liu K, Lin FT, Ruppert JM, Lin WC (2003) Regulation of E2F1 by BRCT domain-containing protein TopBP1. Mol Cell Biol 23:3287–3304
9. Morishima KI, Sakamoto S, Kobayashi J, Izumi H, Suda T, Matsumoto Y, Tauchi H, Ide H, Komatsu K, Matsuura S (2007) TopBP1 associates with NBS1 and is involved in homologous recombination repair. Biochem Biophys Res Commun 362:872–879
10. Boner W, Taylor ER, Tsirimonaki E, Yamane K, Campo MS, Morgan IM (2002) A functional interaction between the human papillomavirus 16 transcription/replication factor E2 and the DNA damage response protein TopBP1. J Biol Chem 277:22297–22303
11. Donaldson MM, Boner W, Morgan IM (2007) TopBP1 regulates human papillomavirus type 16 E2 interaction with chromatin. J Virol 81:4338–4342
12. Herold S, Hock A, Herkert B, Berns K, Mullenders J, Beijersbergen R, Bernards R, Eilers M (2008) Miz1 and HectH9 regulate the stability of the checkpoint protein, TopBP1. EMBO J 27:2851–2861
13. Liu K, Paik JC, Wang B, Lin FT, Lin WC (2006) Regulation of TopBP1 oligomerization by Akt/PKB for cell survival. EMBO J 25:4795–4807
14. Liu K, Luo Y, Lin FT, Lin WC (2004) TopBP1 recruits BRG1/BRM to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival. Genes Dev 18:673–686
15. Makiniemi M, Hillukkala T, Tuusa J, Reini K, Vaara M, Huang D, Pospiech H, Majuri I, Westerling T, Makela TP, Syvaoja JE (2001) BRCT domain-containing protein TopBP1 functions in DNA replication and damage response. J Biol Chem 276:30099–30406
16. Delacroix S, Wagner JM, Kobayashi M, Yamamoto KI, Karnitx LM (2007) The Rad9-Hus1-Rad1 (9-1-1) clamp activates checkpoint signaling via TopBP1. Genes Dev 21:1472–1477
17. Jeon Y, Lee KY, Ko MJ, Lee YS, Kang S, Hwang DS (2007) Human TopBP1 participates in cyclin E/CDK2 activation and preinitiation complex assembly during G1/S transition. J Biol Chem 282:14882–14890
18. Kumagai A, Lee J, Yoo HY, Dunphy WG (2006) TopBP1 activates the ATR-ATRIP complex. Cell 124:943–955
19. Schmidt U, Wollmann Y, Franke C, Grosse F, Saluz HP, Hanel F (2008) Characterization of the interaction between the human DNA topoisomerase IIβ-binding protein 1 (TopBP1) and the cell division cycle protein 45 (Cdc45). Biochem J 409:169–177
20. Bang SW, Ko MJ, Kang S, Kim GS, Kang D, Lee JH, Hwang DS (2011) Human TopBP1 localization to the mitotic centrosome mediates mitotic progression. Exp Cell Res 317:994–1004
21. Garcia V, Furuya K, Carr AM (2005) Identification and functional analysis of TopBP1 and its homologs. DNA Repair 4:1227–1239
22. Jeon Y, Ko E, Lee KY, Ko MJ, Park SY, Kang J, Jeon CH, Lee H, Hwang DS (2011) TopBP1 deficiency causes an early embryonic lethality and induces cellular senescence in primary cells. J Biol Chem 286:5414–5422
23. Bucher N, Britten CD (2008) G2 checkpoint abrogation and checkpoint kinase-I targeting in the treatment of cancer. Br J Cancer 98:523–528
24. Cimprich KA, Cortez D (2008) ATR: an essential regulator of genome integrity. Nat Rev Mol Cell Biol 9:616–627
25. Gorski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzanska A, Bebenek M, Sischer-Maliszewska L, Grzybowska E, Narod SA, Lubinski J (2000) Funder mutations in the BRCA1 gene in polish families with breast-ovarian cancer. Am J Hum Genet 66:1963–1968
26. Mahfoudh W, Bouaouina N, Ahmed SB, Gabbouj S, Shan J, Mathew R, Uhrhammer N, Bignon YJ, Troudi W, Elgaaied ABA, Hassen E, Chouchane L (2011) Hereditary breast cancer in middle Eastern and north African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population. Mol Biol Rep. doi:10.1007/s11033-011-0829-8
27. Wang F, Fang Q, Ge Z, Yu N, Xu S, Fan X (2011) Common BRCA1 and BRCA2 mutations in breast cancer families: a meta-analysis from systematic review. Mol Biol Rep. doi:10.1007/s11033-011-0958-0
28. Xu J, Wang B, Zhang Y, Li R, Wang Y, Zhang S (2011) Clinical implication for BRCA gene mutation in breast cancer. Mol Biol Rep. doi:10.1007/s11033-011-1073-y
29. Gorski B, Cybulski C, Huzarski T, Byrski T, Gronwald J, Jakubowska A, Stawicka M, Gozdecka-Grodecka S, Szwiec M, Urbanski K, Mitus J, Marczyk E, Dziuba J, Wandzel P, Surdyka D, Haus O, Janiszewska H, Debniak T, Toloczko-Grabarek A, Medrek K, Masojc B, Mierzejewski M, Kowalska E, Narod SA, Lubinski J (2005) Breast cancer predisposing alleles in Poland. Breast Cancer Res Treat 92:19–24
30. Gorski B (2006) Selected aspects of molecular diagnostics of constitutional alterations in BRCA1 and BRCA2 genes associated with increased risk of breast cancer in the polish population. Hered Cancer Clin Pract 4:142–152
31. Da Silva L, Lakhani SR (2010) Pathology of hereditary breast cancer. Mod Pathol 23:S46–S51
32. Easton DF (1999) How many more breast cancer predisposition gene are there? Breast Cancer Res 1:14–17
33. Oldenburg RA, Meijers-Heijboer H, Cornelisse CJ, Devilee P (2007) Genetic susceptibility for breast cancer: how many more genes to be found? Crit Rev Oncol Hematol 63:125–149
34. Going JJ, Nixon C, Dorman ES, Boner W, Donaldson MM, Morgan IM (2007) Aberrant expression of TopBP1 in breast cancer. Histopathology 50:418–424
35. Morris JS, Nixon C, Bruck A, Nasir L, Morgan IM, Philbey AW (2008) Immunohistochemical expression of TopBP1 in feline mammary neoplasia in relation to histological grade Ki67, ERα and p53. Vet J 175:218–226
36. Morris JS, Nixon C, King OJA, Morgan IM, Philbey AW (2009) Expression of TopBP1 in canine mammary neoplasia in relation to histological type, Ki67, ERα and p53. Vet J 179:422–429
37. Liu K, Bellam N, Lin HY, Wang B, Stockard CR, Geizzle WE, Lin WC (2009) Regulation of p53 by TopBP1: a potential mechanism for p53 inactivation in cancer. Mol Cell Biol 29:2673–2693
38. Yoshida K, Inoue I (2004) Expression of MCM10 and TopBP1 is regulated by cell proliferation and UV irradiation via the E2F1 transcription factor. Oncogene 23:6250–6260
39. Usskilat C, Skerka C, Saluz HP, Hanel F (2006) The transcription factor EGR-1 is a regulator of the human TopBP1 gene. Gene 380:144–150 - 作者单位：1. Department of Cytobiochemistry, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland2. Department of Clinical Pathomorphology, Polish Mother鈥檚 Memorial Hospital Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland
- 刊物类别：Biomedical and Life Sciences
- 刊物主题：Life Sciences
Animal Anatomy, Morphology and Histology
Animal Biochemistry - 出版者：Springer Netherlands
- ISSN：1573-4978
文摘
TopBP1 protein displays structural as well as functional similarities to BRCA1 and is involved in DNA replication, DNA damage checkpoint response and transcriptional regulation. Aberrant expression of TopBP1 may lead to genomic instability and can have pathological consequences. In this study we aimed to investigate expression of TopBP1 gene at mRNA and protein level in hereditary breast cancer. Real-time quantitative PCR was performed in 127 breast cancer samples. Expression of TopBP1 mRNA in lobular carcinoma was significantly lower compared with ductal carcinoma (p < 0.05). The level of TopBP1 mRNA appeared to be lower in poorly differentiated (III grade) hereditary breast cancer in comparison with moderately (II grade) and well-differentiated cancer (I grade) (p < 0.05 and p < 0.001 respectively). We analyzed TopBP1 protein expression using immunohistochemistry and Western blot techniques. Expression of TopBP1 protein was found to be significantly increased in poorly differentiated breast cancer (III grade) (p < 0.05). The percentage of samples with cytoplasmic apart from nuclear staining increased with increasing histological grade. There was no significant association between level and intracellular localization of TopBP1 protein in hereditary breast cancer and other clinicopathological parameters such as estrogen and progesterone receptors status, appearance of metastasis in the axillary lymph nodes and type of cancer. Our data suggest that decreased level of TopBP1 mRNA and increased level of TopBP1 protein might be associated with progression of hereditary breast cancer.