A potential link between alternative splicing of the NBS1 gene and DNA damage/environmental stress

Radiation Research

Volumn 170, Issue 1, 2008, Pages 33-40

  Takai, Ken ^a   Sakamoto, Shuichi ^a   Sakai, Tatsunori ^b   Yasunaga, Jun Ichirou ^a   Komatsu, Kenshi ^a   Matsuoka, Masao ^a  

^a KYOTO UNIVERSITY   (Japan)

^b KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MESYLIC ACID METHYL ESTER;

ALTERNATIVE RNA SPLICING; ARTICLE; DNA ALKYLATION; DNA DAMAGE; ENVIRONMENTAL STRESS; GENE; GENE EXPRESSION; GENETIC TRANSCRIPTION; GENOTOXICITY; HUMAN; HUMAN CELL; INTRON; MITOGENESIS; NBS1 GENE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; RADIATION EXPOSURE; STOP CODON; WILD TYPE;

ALTERNATIVE SPLICING; ANIMALS; APOPTOSIS; BASE SEQUENCE; CELL CYCLE PROTEINS; CELL LINE; DNA DAMAGE; EXONS; GENE EXPRESSION REGULATION; HUMANS; MITOGENS; MOLECULAR SEQUENCE DATA; MUTAGENS; NUCLEAR PROTEINS; ORGAN SPECIFICITY; PROTEIN BINDING; SEQUENCE ALIGNMENT;

EID: 46449101206     PISSN: 00337587     EISSN: None     Source Type: Journal    
DOI: 10.1667/RR1191.1     Document Type: Article

References (42)

1. M. Digweed and K. Sperling, Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst.) 3, 1207-1217 (2004).
2. H. Tauchi, S. Matsuura, J. Kobayashi, S. Sakamoto and K. Komatsu, Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability. Oncogene 21, 8967-8980 (2002).
3. J. Kobayashi, A. Antoccia, H. Tauchi, S. Matsuura and K. Komatsu, NBS1 and its functional role in the DNA damage response. DNA Repair (Amst.) 3, 855-861 (2004).
4. J. P. Carney, R. S. Maser, H. Olivares, E. M. Davis, M. Le Beau, J. R. Yates, 3rd, L. Hays, W. F. Morgan and J. H. Petrini, The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93, 477-486 (1998).
5. S. Matsuura, H. Tauchi, A. Nakamura, N. Kondo, S. Sakamoto, S. Endo, D. Smeets, B. Solder, B. H. Belohradsky and K. Komatsu, Positional cloning of the gene for Nijmegen breakage syndrome. Nat. Genet. 19, 179-181 (1998).
6. R. Varon, V. Dutrannoy, G. Weikert, C. Tanzarella, A. Antoccia, L. Stockl, E. Spadoni, L. A. Kruger, A. di Masi and P. Maraschio, Mild Nijmegen breakage syndrome phenotype due to alternative splicing. Hum. Mol. Genet. 15, 679-689 (2006).
7. S. Zhao, W. Renthal and E. Y. Lee, Functional analysis of FHA and BRCT domains of NBS1 in chromatin association and DNA damage responses. Nucleic Acids Res. 30, 4815-4822 (2002).
8. R. S. Maser, R. Zinkel and J. H. Petrini, An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele. Nat. Genet. 27, 417-421 (2001).
9. D. S. Lim, S. T. Kim, B. Xu, R. S. Maser, J. Lin, J. H. Petrini and M. B. Kastan, ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway. Nature 404, 613-617 (2000).
10. S. Zhao, Y. C. Weng, S. S. Yuan, Y. T. Lin, H. C. Hsu, S. C. Lin, E. Gerbino, M. H. Song, M. Z. Zdzienicka and E. Y. Lee, Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Nature 405, 473-477 (2000).
11. H. Tauchi, J. Kobayashi, K. Morishima, D. C. van Gent, T. Shiraishi, N. S. Verkaik, D. vanHeems, E. Ito, A. Nakamura and K. Komatsu, Nbs1 is essential for DNA repair by homologous recombination in higher vertebrate cells. Nature 420, 93-98 (2002).
12. M. van den Bosch, R. T. Bree and N. F. Lowndes, The MRN complex: coordinating and mediating the response to broken chromosomes. EMBO Rep. 4, 844-849 (2003).
13. B. E. Nelms, R. S. Maser, J. F. MacKay, M. G. Lagally and J. H. Petrini, In situ visualization of DNA double-strand break repair in human fibroblasts. Science 280, 590-592 (1998).
14. R. S. Maser, K. J. Monsen, B. E. Nelms and J. H. Petrini, hMre11 and hRad50 nuclear foci are induced during the normal cellular response to DNA double-strand breaks. Mol. Cell. Biol. 17, 6087-6096 (1997).
15. J. Kobayashi, H. Tauchi, S. Sakamoto, A. Nakamura, K. Morishima, S. Matsuura, T. Kobayashi, K. Tamai, K. Tanimoto and K. Komatsu, NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. Curr. Biol. 12, 1846-1851 (2002).
16. S. Sakamoto, K. Iijima, D. Mochizuki, K. Nakamura, K. Teshigawara, J. Kobayashi, S. Matsuura, H. Tauchi and K. Komatsu, Homologous recombination repair is regulated by domains at the N- and C-terminus of NBS1 and is dissociated with ATM functions. Oncogene 26, 6002-6009 (2007).
17. S. Takeda, M. Maeda, S. Morikawa, Y. Taniguchi, J. Yasunaga, K. Nosaka, Y. Tanaka and M. Matsuoka, Genetic and epigenetic inactivation of tax gene in adult T-cell leukemia cells. Int. J. Cancer 109, 559-567 (2004).
18. M. Yoshida, K. Nosaka, J. Yasunaga, I. Nishikata, K. Morishita and M. Matsuoka, Aberrant expression of the MEL1S gene identified in association with hypomethylation in adult T-cell leukemia cells. Blood 103, 2753-2760 (2004).
19. A. Ito, H. Tauchi, J. Kobayashi, K. Morishima, A. Nakamura, Y. Hirokawa, S. Matsuura, K. Ito and K. Komatsu, Expression of full-length NBS1 protein restores normal radiation responses in cells from Nijmegen breakage syndrome patients. Biochem. Biophys. Res. Commun. 265, 716-721 (1999).
20. A. Pierce and M. Jasin, Measuring recombination proficiency in mouse embryonic stem cells. Methods Mol. Biol. 291, 373-384 (2005).
21. L. Colleaux, L. D'Auriol, F. Galibert and B. Dujon, Recognition and cleavage site of the intron-encoded omega transposase. Proc. Natl. Acad. Sci. USA 85, 6022-6026 (1988).
22. C. Monteilhet, A. Perrin, A. Thierry, L. Colleaux and B. Dujon, Purification and characterization of the in vitro activity of I-Sce I, a novel and highly specific endonuclease encoded by a group I intron. Nucleic Acids Res. 18, 1407-1413 (1990).
23. A. J. Pierce, R. D. Johnson, L. H. Thompson and M. Jasin, XRCC3 promotes homology-directed repair of DNA damage in mammalian cells. Genes Dev. 13, 2633-2638 (1999).
24. R. C. Wilkins, B. C. Kutzner, M. Truong, J. Sanchez-Dardon and J. R. McLean, Analysis of radiation-induced apoptosis in human lymphocytes: flow cytometry using Annexin V and propidium iodide versus the neutral comet assay. Cytometry 48, 14-19 (2002).
25. A. Schmitz, J. Bayer, N. Dechamps and G. Thomas, Intrinsic susceptibility to radiation-induced apoptosis of human lymphocyte subpopulations. Int. J. Radiat. Oncol. Biol. Phys. 57, 769-778 (2003).
26. T. Takakuwa, W. J. Luo, M. F. Ham and K. Aozasa, A 50-bp insertion from intron 2 between exons 2 and 3 of NBS1 may be a spliced variant. Genes Chromosomes Cancer 39, 341-342 (2004).
27. B. Modrek and C. Lee, A genomic view of alternative splicing. Nat. Genet. 30, 13-19 (2002).
28. M. Kozak, At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells. J. Mol. Biol. 196, 947-950 (1987).
29. M. Kozak, Initiation of translation in prokaryotes and eukaryotes. Gene 234, 187-208 (1999).
30. T. Kawahara, H. Yanagi, T. Yura and K. Mori, Endoplasmic reticulum stress-induced mRNA splicing permits synthesis of transcription factor Hac1p/Ern4p that activates the unfolded protein response. Mol. Biol. Cell 8, 1845-1862 (1997).
31. H. Yoshida, T. Matsui, A. Yamamoto, T. Okada and K. Mori, XBP1 mRNA is induced by ATF6 and spliced by IRE1 in response to ER stress to produce a highly active transcription factor. Cell 107, 881-891 (2001).
32. U. Ruegsegger, J. H. Leber and P. Walter, Block of HAC1 mRNA translation by long-range base pairing is released by cytoplasmic splicing upon induction of the unfolded protein response. Cell 107, 103-114 (2001).
33. K. W. Lynch and A. Weiss, A model system for activation-induced alternative splicing of CD45 pre-mRNA in T cells implicates protein kinase C and Ras. Mol. Cell. Biol. 20, 70-80 (2000).
34. N. Shomron, M. Alberstein, M. Reznik and G. Ast, Stress alters the subcellular distribution of hSlu7 and thus modulates alternative splicing. J. Cell. Sci. 118, 1151-1159 (2005).
35. E. J. Hall and A. J. Giaccia, Clinical response of normal tissues. In Radiobiology for the Radiologist, 6th ed., pp. 327-348. Lippincott Williams & Wilkins, Philadelphia, 2006.
36. R. E. Anderson and N. L. Warner, Ionizing radiation and the immune response. Adv. Immunol. 24, 215-335 (1976).
37. M. E. Boerrigter and J. Vijg, Single-strand break disappearance in quiescent and phytohaemagglutinin-stimulated human peripheral blood lymphocytes exposed to a single low dose of gamma-radiation. Int. J. Radiat. Biol. 61, 95-101 (1992).
38. M. Carloni, R. Meschini, L. Ovidi and F. Palitti, PHA-induced cell proliferation rescues human peripheral blood lymphocytes from X-ray-induced apoptosis. Mutagenesis 16, 115-120 (2001).
39. K. Ohnishi, Z. Scuric, R. H. Schiestl, N. Okamoto, A. Takahashi and T. Ohnishi, siRNA targeting NBS1 or XIAP increases radiation sensitivity of human cancer cells independent of TP53 status. Radiat. Res. 166, 454-462 (2006).
40. E. J. Hall and A. J. Giaccia, Acute effects of total-body irradiation. In Radiobiology for the Radiologist, 6th ed., pp. 117-128. Lippincott Williams & Wilkins, Philadelphia, 2006.
41. G. Ast, How did alternative splicing evolve? Nat. Rev. Genet. 5, 773-782 (2004).
42. G. Lev-Maor, R. Sorek, N. Shomron and G. Ast, The birth of an alternatively spliced exon: 3′ splice-site selection in Alu exons. Science 300, 1288-1291 (2003).