TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase

Journal of Biological Chemistry

Volumn 286, Issue 26, 2011, Pages 23022-23030

  Yang, Dong ^b   He, Quanyuan ^b   Kim, Hyeung ^b   Ma, Wenbin ^a,b   Songyang, Zhou ^a,b  

^a SUN YAT SEN UNIVERSITY   (China)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MARROW; COMMON FEATURES; CONGENITAL DISORDERS; CORE COMPONENTS; ECTOPIC EXPRESSIONS; HUMAN CELLS; MOLECULAR MECHANISM; MULTIPLE MUTATIONS; MULTIPLE SYSTEMS; SKIN PIGMENTATION; TELOMERASE; TELOMERASE ACTIVITY; TELOMERASE GENES; TELOMERES;

CHROMOSOMES;

GENE ENCODING;

BINDING PROTEIN; PROTEIN TERC; PROTEIN TIN2; TELOMERASE; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; DYSKERATOSIS CONGENITA; ENZYME ACTIVITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTANT; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; TELOMERE;

AMINOPEPTIDASES; CELL LINE; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; DYSKERATOSIS CONGENITA; HUMANS; MUTATION, MISSENSE; SERINE PROTEASES; TELOMERASE; TELOMERE; TELOMERE-BINDING PROTEINS;

EID: 79959545022     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.225870     Document Type: Article

References (57)

1. Kirwan, M., and Dokal, I. (2009) Biochim. Biophys. Acta 1792, 371-379
2. Kirwan, M., and Dokal, I. (2008) Clin. Genet. 73, 103-112
3. Alter, B. P., Baerlocher, G. M., Savage, S. A., Chanock, S. J., Weksler, B. B., Willner, J. P., Peters, J. A., Giri, N., and Lansdorp, P. M. (2007) Blood 110, 1439-1447
4. Vulliamy, T. J., Knight, S. W., Mason, P. J., and Dokal, I. (2001) Blood Cells Mol. Dis. 27, 353-357
5. Calado, R. T., and Young, N. S. (2008) Blood 111, 4446-4455
6. Walne, A. J., Vulliamy, T., Beswick, R., Kirwan, M., and Dokal, I. (2008) Blood 112, 3594-3600
7. Savage, S. A., Giri, N., Baerlocher, G. M., Orr, N., Lansdorp, P. M., and Alter, B. P. (2008) Am. J. Hum. Genet. 82, 501-509
8. Savage, S. A., and Alter, B. P. (2008) Mech. Ageing Dev. 129, 35-47
9. Armanios, M., Chen, J. L., Chang, Y. P., Brodsky, R. A., Hawkins, A., Griffin, C. A., Eshleman, J. R., Cohen, A. R., Chakravarti, A., Hamosh, A., and Greider, C. W. (2005) Proc. Natl. Acad. Sci. U.S.A. 102, 15960-15964
10. Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P. J., and Dokal, I. (2004) Nat. Genet. 36, 447-449
11. Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P. J., and Dokal, I. (2001) Nature 413, 432-435
12. Heiss, N. S., Knight, S. W., Vulliamy, T. J., Klauck, S. M., Wiemann, S., Mason, P. J., Poustka, A., and Dokal, I. (1998) Nat. Genet. 19, 32-38
13. Vulliamy, T., Beswick, R., Kirwan, M., Marrone, A., Digweed, M., Walne, A., and Dokal, I. (2008) Proc. Natl. Acad. Sci. U.S.A. 105, 8073-8078
14. Walne, A. J., Vulliamy, T., Marrone, A., Beswick, R., Kirwan, M., Masunari, Y., Al-Qurashi, F. H., Aljurf, M., and Dokal, I. (2007) Hum. Mol. Genet. 16, 1619-1629
15. Autexier, C., and Lue, N. F. (2006) Annu. Rev. Biochem. 75, 493-517
16. Härle-Bachor, C., and Boukamp, P. (1996) Proc. Natl. Acad. Sci. U.S.A. 93, 6476-6481
17. Hiyama, K., Hirai, Y., Kyoizumi, S., Akiyama, M., Hiyama, E., Piatyszek, M. A., Shay, J. W., Ishioka, S., and Yamakido, M. (1995) J. Immunol. 155, 3711-3715
18. Marrone, A., Stevens, D., Vulliamy, T., Dokal, I., and Mason, P. J. (2004) Blood 104, 3936-3942
19. Cerone, M. A., Ward, R. J., Londoño-Vallejo, J. A., and Autexier, C. (2005) Cell Cycle 4, 585-589
20. Sasa, G., Ribes-Zamora, A., Nelson, N., and Bertuch, A. (2011) Clin. Genet., in press
21. Du, H. Y., Mason, P. J., Bessler, M., and Wilson, D. B. (2009) Pediatr. Blood Cancer 52, 687
22. Tsangaris, E., Adams, S. L., Yoon, G., Chitayat, D., Lansdorp, P., Dokal, I., and Dror, Y. (2008) Hum. Genet. 124, 507-513
23. Liu, D., O'Connor, M. S., Qin, J., and Songyang, Z. (2004) J. Biol. Chem. 279, 51338-51342
24. de Lange, T. (2005) Genes Dev. 19, 2100-2110
25. Palm, W., and de Lange, T. (2008) Annu. Rev. Genet. 42, 301-334
26. Wang, F., Podell, E. R., Zaug, A. J., Yang, Y., Baciu, P., Cech, T. R., and Lei, M. (2007) Nature 445, 506-510
27. Xin, H., Liu, D., Wan, M., Safari, A., Kim, H., Sun, W., O'Connor, M. S., and Songyang, Z. (2007) Nature 445, 559-562
28. Abreu, E., Aritonovska, E., Reichenbach, P., Cristofari, G., Culp, B., Terns, R. M., Lingner, J., and Terns, M. P. (2010) Mol. Cell. Biol. 30, 2971-2982
29. Tejera, A. M., Stagno d'Alcontres, M., Thanasoula, M., Marion, R. M., Martinez, P., Liao, C., Flores, J. M., Tarsounas, M., and Blasco, M. A. (2010) Dev. Cell 18, 775-789
30. Kim, H., Lee, O. H., Xin, H., Chen, L. Y., Qin, J., Chae, H. K., Lin, S. Y., Safari, A., Liu, D., and Songyang, Z. (2009) Nat. Struct. Mol. Biol. 16, 372-379
31. O'Connor, M. S., Safari, A., Xin, H., Liu, D., and Songyang, Z. (2006) Proc. Natl. Acad. Sci. U.S.A. 103, 11874-11879
32. Liu, D., Safari, A., O'Connor, M. S., Chan, D. W., Laegeler, A., Qin, J., and Songyang, Z. (2004) Nat. Cell Biol. 6, 673-680
33. Herbert, B. S., Hochreiter, A. E., Wright, W. E., and Shay, J. W. (2006) Nat. Protoc. 1, 1583-1590
34. Liang, J., Wan, M., Zhang, Y., Gu, P., Xin, H., Jung, S. Y., Qin, J., Wong, J., Cooney, A. J., Liu, D., and Songyang, Z. (2008) Nat. Cell Biol. 10, 731-739
35. Nakamura, T. M., Morin, G. B., Chapman, K. B., Weinrich, S. L., Andrews, W. H., Lingner, J., Harley, C. B., and Cech, T. R. (1997) Science 277, 955-959
36. Ouellette, M. M., Liao, M., Herbert, B. S., Johnson, M., Holt, S. E., Liss, H. S., Shay, J. W., and Wright, W. E. (2000) J. Biol. Chem. 275, 10072-10076
37. Ye, J. Z., and de Lange, T. (2004) Nat. Genet. 36, 618-623
38. Kim, S. H., Kaminker, P., and Campisi, J. (1999) Nat. Genet. 23, 405-412
39. Wong, J. M., and Collins, K. (2006) Genes Dev. 20, 2848-2858
40. Mitchell, J. R., Wood, E., and Collins, K. (1999) Nature 402, 551-555
41. Wong, J. M., Kyasa, M. J., Hutchins, L., and Collins, K. (2004) Hum. Genet. 115, 448-455
42. O'Connor, M. S., Safari, A., Liu, D., Qin, J., and Songyang, Z. (2004) J. Biol. Chem. 279, 28585-28591
43. Takai, K. K., Hooper, S., Blackwood, S., Gandhi, R., and de Lange, T. (2010) J. Biol. Chem. 285, 1457-1467
44. Okamoto, K., Iwano, T., Tachibana, M., and Shinkai, Y. (2008) J. Biol. Chem. 283, 23981-23988
45. Ye, J. Z., Hockemeyer, D., Krutchinsky, A. N., Loayza, D., Hooper, S. M., Chait, B. T., and de Lange, T. (2004) Genes Dev. 18, 1649-1654
46. van Steensel, B., and de Lange, T. (1997) Nature 385, 740-743
47. Smogorzewska, A., van Steensel, B., Bianchi, A., Oelmann, S., Schaefer, M. R., Schnapp, G., and de Lange, T. (2000) Mol. Cell. Biol. 20, 1659-1668
48. Houghtaling, B. R., Cuttonaro, L., Chang, W., and Smith, S. (2004) Curr. Biol. 14, 1621-1631
49. Ye, J. Z., Donigian, J. R., van Overbeek, M., Loayza, D., Luo, Y., Krutchinsky, A. N., Chait, B. T., and de Lange, T. (2004) J. Biol. Chem. 279, 47264-47271
50. Kim, S. H., Beausejour, C., Davalos, A. R., Kaminker, P., Heo, S. J., and Campisi, J. (2004) J. Biol. Chem. 279, 43799-43804
51. Deng, Z., Atanasiu, C., Burg, J. S., Broccoli, D., and Lieberman, P. M. (2003) J. Virol. 77, 11992-12001
52. Bradshaw, P. S., Stavropoulos, D. J., and Meyn, M. S. (2005) Nat. Genet. 37, 193-197
53. Kaminker, P., Plachot, C., Kim, S. H., Chung, P., Crippen, D., Petersen, O. W., Bissell, M. J., Campisi, J., and Lelièvre, S. A. (2005) J. Cell Sci. 118, 1321-1330
54. Chen, L. Y., Liu, D., and Songyang, Z. (2007) Mol. Cell. Biol. 27, 5898-5909
55. Kim, S. H., Davalos, A. R., Heo, S. J., Rodier, F., Zou, Y., Beausejour, C., Kaminker, P., Yannone, S. M., and Campisi, J. (2008) J. Cell Biol. 181, 447-460
56. Venteicher, A. S., Abreu, E. B., Meng, Z., McCann, K. E., Terns, R. M., Veenstra, T. D., Terns, M. P., and Artandi, S. E. (2009) Science 323, 644-648
57. Zhong, F., Savage, S. A., Shkreli, M., Giri, N., Jessop, L., Myers, T., Chen, R., Alter, B. P., and Artandi, S. E. (2011) Genes Dev. 25, 11-16