Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 52, 2014, Pages 18631-18636

  Ciccia, Alberto ^a,b   Huang, Jen Wei ^b   Izhar, Lior ^a   Sowa, Mathew E ^a   Harper, J Wade ^a   Elledge, Stephen J ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b Department of Medicine   (United States)

Author keywords

ATM; CK2; DNA damage response; Nucleolus; Protein phosphorylation

Indexed keywords

ATM PROTEIN; CASEIN KINASE II; NIBRIN; PROTEIN; RIBOSOME DNA; TCOF1 PROTEIN; UNCLASSIFIED DRUG; ATM PROTEIN, HUMAN; CELL CYCLE PROTEIN; NBN PROTEIN, HUMAN; NUCLEAR PROTEIN; PHOSPHOPROTEIN; TCOF1 PROTEIN, HUMAN;

ARTICLE; CONTROLLED STUDY; DNA DAMAGE; EMBRYO; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HUMAN CELL; MANDIBULOFACIAL DYSOSTOSIS; NUCLEOLUS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; ACTIVE TRANSPORT; GENETIC TRANSCRIPTION; GENETICS; METABOLISM; PHOSPHORYLATION; SIGNAL TRANSDUCTION; TUMOR CELL LINE;

ACTIVE TRANSPORT, CELL NUCLEUS; ATAXIA TELANGIECTASIA MUTATED PROTEINS; CELL CYCLE PROTEINS; CELL LINE, TUMOR; CELL NUCLEOLUS; DNA DAMAGE; DNA, RIBOSOMAL; HUMANS; NUCLEAR PROTEINS; PHOSPHOPROTEINS; PHOSPHORYLATION; SIGNAL TRANSDUCTION; TRANSCRIPTION, GENETIC;

EID: 84924288036     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1422488112     Document Type: Article

References (29)

1. Ciccia A, Elledge SJ (2010) The DNA damage response: Making it safe to play with knives. Mol Cell 40(2):179-204.
2. Jackson SP, Bartek J (2009) The DNA-damage response in human biology and disease. Nature 461(7267):1071-1078.
3. West SC (2003) Molecular views of recombination proteins and their control. Nat Rev Mol Cell Biol 4(6):435-445.
4. Symington LS, Gautier J (2011) Double-strand break end resection and repair pathway choice. Annu Rev Genet 45:247-271.
5. Chapman JR, Taylor MR, Boulton SJ (2012) Playing the end game: DNA double-strand break repair pathway choice. Mol Cell 47(4):497-510.
6. Lukas J, Lukas C, Bartek J (2011) More than just a focus: The chromatin response to DNA damage and its role in genome integrity maintenance. Nat Cell Biol 13(10):1161-1169.
7. Stewart GS, Wang B, Bignell CR, Taylor AM, Elledge SJ (2003) MDC1 is a mediator of the mammalian DNA damage checkpoint. Nature 421(6926):961-966.
8. Stucki M, et al. (2005) MDC1 directly binds phosphorylated histone H2AX to regulate cellular responses to DNA double-strand breaks. Cell 123(7):1213-1226.
9. Lou Z, et al. (2006) MDC1 maintains genomic stability by participating in the amplification of ATM-dependent DNA damage signals. Mol Cell 21(2):187-200.
10. Stracker TH, Petrini JH (2011) The MRE11 complex: Starting from the ends. Nat Rev Mol Cell Biol 12(2):90-103.
11. Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009) Defining the human deubiquitinating enzyme interaction landscape. Cell 138(2):389-403.
12. Sakai D, Trainor PA (2009) Treacher Collins syndrome: Unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol 41(6):1229-1232.
13. Valdez BC, Henning D, So RB, Dixon J, Dixon MJ (2004) The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci USA 101(29):10709-10714.
14. Williams RS, et al. (2009) Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA double-strand break processing and repair. Cell 139(1):87-99.
15. Spycher C, et al. (2008) Constitutive phosphorylation of MDC1 physically links the MRE11-RAD50-NBS1 complex to damaged chromatin. J Cell Biol 181(2):227-240.
16. Melander F, et al. (2008) Phosphorylation of SDT repeats in the MDC1 N terminus triggers retention of NBS1 at the DNA damage-modified chromatin. J Cell Biol 181(2):213-226.
17. Jones NC, Farlie PG, Minichiello J, Newgreen DF (1999) Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. Hum Mol Genet 8(12):2239-2245.
18. Wise CA, et al. (1997) TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. Proc Natl Acad Sci USA 94(7):3110-3115.
19. Matsuoka S, et al. (2007) ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 316(5828):1160-1166.
20. Smogorzewska A, et al. (2007) Identification of the FANCI protein, a mono-ubiquitinated FANCD2 paralog required for DNA repair. Cell 129(2):289-301.
21. Lloyd J, et al. (2009) A supramodular FHA/BRCT-repeat architecture mediates Nbs1 adaptor function in response to DNA damage. Cell 139(1):100-111.
22. Larsen DH, et al. (2014) The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage. Nat Cell Biol 16(8):792-803.
23. Courcelles M, et al. (2013) Phosphoproteome dynamics reveal novel ERK1/2 MAP kinase substrates with broad spectrum of functions. Mol Syst Biol 9:669.
24. Hsu PP, et al. (2011) The mTOR-regulated phosphoproteome reveals a mechanism of mTORC1-mediated inhibition of growth factor signaling. Science 332(6035):1317-1322.
25. Reinhardt HC, Yaffe MB (2013) Phospho-Ser/Thr-binding domains: Navigating the cell cycle and DNA damage response. Nat Rev Mol Cell Biol 14(9):563-580.
26. Kruhlak M, et al. (2007) The ATM repair pathway inhibits RNA polymerase I transcription in response to chromosome breaks. Nature 447(7145):730-734.
27. Jones NC, et al. (2008) Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 14(2):125-133.
28. Ciccia A, et al. (2012) Polyubiquitinated PCNA recruits the ZRANB3 translocase to maintain genomic integrity after replication stress. Mol Cell 47(3):396-409.
29. Ciccia A, et al. (2009) The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. Genes Dev 23(20):2415-2425.