Molecular characterization of inter-telomere and intra-telomere mutations in human ALT cells (original) (raw)

References

1. Morin, G.B. The human telomere terminal transferase enzyme is a ribonucleoprotein that synthesizes TTAGGG repeats. Cell 59, 521–529 (1989).
   Article CAS PubMed Google Scholar
2. Kim, N.W. et al. Specific association of human telomerase activity with immortal cells and cancer. Science 266, 2011–2015 (1994).
   Article CAS PubMed Google Scholar
3. Wright, W.E., Piatyszek, M.A., Rainey, W.E., Byrd, W. & Shay, J.W. Telomerase activity in human germline and embryonic-tissues and cells. Dev. Genet. 18, 173–179 (1996).
   Article CAS PubMed Google Scholar
4. Greider, C.W. & Blackburn, E.H. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell 43, 405–413 (1985).
   Article CAS PubMed Google Scholar
5. Bryan, T.M., Englezou, A., Gupta, J., Bacchetti, S. & Reddel, R.R. Telomere elongation in immortal human cells without detectable telomerase activity. EMBO J. 14, 4240–4248 (1995).
   Article CAS PubMed PubMed Central Google Scholar
6. Bryan, T.M., Englezou, A., Dalla-Pozza, L., Dunham, M.A. & Reddel, R.R. Evidence for an alternative mechanism for maintaining telomere length in human tumors and tumor-derived cell lines. Nature Med. 3, 1271–1274 (1997).
   Article CAS PubMed Google Scholar
7. Lundblad, V. & Blackburn, E.H. An alternative pathway for yeast telomere maintenance rescues _est1_- senescence. Cell 73, 347–360 (1993).
   Article CAS PubMed Google Scholar
8. Teng, S.C. & Zakian, V.A. Telomere-telomere recombination is an efficient bypass pathway for telomere maintenance in Saccharomyces cerevisiae. Mol. Cell. Biol. 19, 8083–8093 (1999).
   Article CAS PubMed PubMed Central Google Scholar
9. Murnane, J.P., Sabatier, L., Marder, B.A. & Morgan, W.F. Telomere dynamics in an immortal human cell line. EMBO J. 13, 4953–4962 (1994).
   Article CAS PubMed PubMed Central Google Scholar
10. Teng, C.S., Chang, J., McCowan, B. & Zakian, A.V. Telomerase-independent lengthening of yeast telomeres occurs by an abrupt Rad50p-dependent, Rif-inhibited recombinational process. Mol. Cell 6, 947–952 (2000).
    Article CAS PubMed Google Scholar
11. Dunham, M.A., Neumann, A.A., Fasching, C.L. & Reddel, R.R. Telomere maintenance by recombination in human cells. Nature Genet. 26, 447–450 (2000).
    Article CAS PubMed Google Scholar
12. Allsopp, R.C. et al. Telomere length predicts replicative capacity of human fibroblasts. Proc. Natl Acad. Sci. USA 89, 10114–10118 (1992).
    Article CAS PubMed PubMed Central Google Scholar
13. Allsopp, R.C. & Harley, C.B. Evidence for a critical telomere length in senescent human fibroblasts. Exp. Cell Res. 219, 130–136 (1995).
    Article CAS PubMed Google Scholar
14. Counter, C.M. et al. Telomere shortening associated with chromosome instability is arrested in immortal cells which express telomerase activity. EMBO J. 11, 1921–1929 (1992).
    Article CAS PubMed PubMed Central Google Scholar
15. Counter, C.M., Botelho, F.M., Wang, P., Harley, C.B. & Bacchetti, S. Stabilization of short telomeres and telomerase activity accompany immortalization of Epstein-Barr virus-transformed human B lymphocytes. J. Virol. 68, 3410–3414 (1994).
    CAS PubMed PubMed Central Google Scholar
16. Bryan, T.M. & Reddel, R.R. Telomere dynamics and telomerase activity in in vitro immortalised human cells. Eur. J. Cancer 33, 767–773 (1997).
    Article CAS PubMed Google Scholar
17. Allshire, R.C., Dempster, M. & Hastie, N.D. Human telomeres contain at least three types of G-rich repeat distributed non-randomly. Nucleic Acids Res. 17, 4611–4627 (1989).
    Article CAS PubMed PubMed Central Google Scholar
18. Baird, D.M., Jeffreys, A.J. & Royle, N.J. Mechanisms underlying telomere repeat turnover, revealed by hypervariable variant repeat distribution patterns in the human X/Yp telomere. EMBO J. 14, 5433–5443 (1995).
    Article CAS PubMed PubMed Central Google Scholar
19. Baird, D.M., Coleman, J., Rosser, Z.H. & Royle, N.J. High levels of sequence polymorphism and linkage disequilibrium at the telomere of 12q: implications for telomere biology and human evolution. Am. J. Hum. Genet. 66, 235–250 (2000).
    Article CAS PubMed PubMed Central Google Scholar
20. Coleman, J., Baird, D.M. & Royle, N.J. The plasticity of human telomeres demonstrated by a hypervariable telomere repeat array that is located on some copies of 16p and 16q. Hum. Mol. Genet. 8, 1637–1646 (1999).
    Article CAS PubMed Google Scholar
21. Yeager, T.R. et al. Telomerase-negative immortalized human cells contain a novel type of promyelocytic leukemia (PML) body. Cancer Res. 59, 4175–4179 (1999).
    CAS PubMed Google Scholar
22. Rizki, A. & Lundblad, V. Defects in mismatch repair promote telomerase-independent proliferation. Nature 411, 713–716 (2001).
    Article CAS PubMed Google Scholar
23. Warneford, S.G. et al. Germ-line splicing mutation of the p53 gene in a cancer-prone family. Cell Growth Differ. 3, 839–846 (1992).
    CAS PubMed Google Scholar
24. Rogan, E.M. et al. Alterations in p53 and p16INK4 expression and telomere length during spontaneous immortalization of Li-Fraumeni syndrome fibroblasts. Mol. Cell. Biol. 15, 4745–4753 (1995).
    Article CAS PubMed PubMed Central Google Scholar
25. Ford, L.P. et al. Telomerase can inhibit the recombination-based pathway of telomere maintenance in human cells. J. Biol. Chem. 276, 32198–32203 (2001).
    Article CAS PubMed Google Scholar
26. Bryan, T.M., Marusic, L., Bacchetti, S., Namba, M. & Reddel, R.R. The telomere lengthening mechanism in telomerase-negative immortal human cells does not involve the telomerase RNA subunit. Hum. Mol. Genet. 6, 921–926 (1997).
    Article CAS PubMed Google Scholar
27. Jeffreys, A.J., Macleod, A., Tamaki, K., Neil, D.L. & Monckton, D.G. Minisatellite repeat coding as a digital approach to DNA typing. Nature 354, 204–209 (1991).
    Article CAS PubMed Google Scholar
28. Baird, D.M. & Royle, N.J. Sequences from higher primates orthologous to the human Xp/Yp telomere junction region reveal gross rearrangements and high levels of divergence. Hum. Mol. Genet. 6, 2291–2299 (1997).
    Article CAS PubMed Google Scholar

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