Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome

British Journal of Haematology

Volumn 141, Issue 5, 2008, Pages 681-688

  Sato, Tomohiko ^a   Toki, Tsutomu ^a   Kanezaki, Rika ^a   Xu, Gang ^a   Terui, Kiminori ^a   Kanegane, Hirokazu ^b   Miura, Masayoshi ^c   Adachi, Souichi ^d   Migita, Masahiro ^e   Morinaga, Shingo ^f   Nakano, Takahide ^g   Endo, Mikiya ^h   Kojima, Seiji ⁱ   Kiyoi, Hitoshi ⁱ   Mano, Hiroyuki ^j   Ito, Etsuro ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b UNIVERSITY OF TOYAMA   (Japan)

^c Toyama City Hospital   (Japan)

^d KYOTO UNIVERSITY   (Japan)

^e JAPANESE RED CROSS KUMAMOTO HOSPITAL   (Japan)

^f NATIONAL HOSPITAL ORGANIZATION   (Japan)

^g KANSAI MEDICAL UNIVERSITY   (Japan)

^h IWATE MEDICAL UNIVERSITY   (Japan)

ⁱ NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^j JICHI MEDICAL UNIVERSITY   (Japan)

more..

Author keywords

Acute megakaryoblastic leukaemia; Down syndrome; JAK3; STAT5; Transient myeloproliferative disorder

Indexed keywords

ACUTE MEGAKARYOCYTIC LEUKEMIA; ARTICLE; CANCER CELL CULTURE; CANCER GROWTH; CELL VIABILITY; CONTROLLED STUDY; DISEASE ASSOCIATION; DOWN SYNDROME; GENE; GENE ACTIVATION; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; JAK3 GENE; LEUKEMOGENESIS; MYELOPROLIFERATIVE DISORDER; PRIORITY JOURNAL;

BASE SEQUENCE; CELL PROLIFERATION; DOSE-RESPONSE RELATIONSHIP, DRUG; DOWN SYNDROME; FEMALE; HUMANS; JANUS KINASE 3; LEUKEMIA, MEGAKARYOBLASTIC, ACUTE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MYELOPROLIFERATIVE DISORDERS; NEOPLASM PROTEINS; QUINAZOLINES; SIGNAL TRANSDUCTION; TUMOR CELLS, CULTURED;

EID: 43449107692     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07081.x     Document Type: Article

References (31)

1. Ahmed, M., Sternberg, A., Hall, G., Thomas, A., Smith, O., O'Marcaigh, A., Wynn, R., Stevens, R., Addison, M., King, D., Stewart, B., Gibson, B., Roberts, I. Vyas, P. (2004) Natural history of GATA1 mutations in Down syndrome. Blood, 103, 2480 2489.
2. Baxter, E.J., Scott, L.M., Campbell, P.J., East, C., Fourouclas, N., Swanton, S., Vassiliou, G.S., Bench, A.J., Boyd, E.M., Curtin, N., Scott, M.A., Erber, W.N. Green, A.R. (2005) Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. The Lancet, 365, 1054 1061.
3. Borie, D.C., O'Shea, J.J. Changelian, P.S. (2004) JAK3 inhibition, a viable new modality of immunosuppression for solid organ transplants. Trends in Molecular Medicine, 10, 532 541.
4. Changelian, P.S., Flanagan, M.E., Ball, D.J., Kent, C.R., Magnuson, K.S., Martin, W.H., Rizzuti, B.J., Sawyer, P.S., Perry, B.D., Brissette, W.H., McCurdy, S.P., Kudlacz, E.M., Conklyn, M.J., Elliott, E.A., Koslov, E.R., Fisher, M.B., Strelevitz, T.J., Yoon, K., Whipple, D.A., Sun, J., Munchhof, M.J., Doty, J.L., Casavant, J.M., Blumenkopf, T.A., Hines, M., Brown, M.F., Lillie, B.M., Subramanyam, C., Shang-Poa, C., Milici, A.J., Beckius, G.E., Moyer, J.D., Su, C., Woodworth, T.G., Gaweco, A.S., Beals, C.R., Littman, B.H., Fisher, D.A., Smith, J.F., Zagouras, P., Magna, H.A., Saltarelli, M.J., Johnson, K.S., Nelms, L.F., Des Etages, S.G., Hayes, L.S., Kawabata, T.T., Finco-Kent, D., Baker, D.L., Larson, M., Si, M.S., Paniagua, R., Higgins, J., Holm, B., Reitz, B., Zhou, Y.J., Morris, R.E., O'Shea, J.J. Borie, D.C. (2003) Prevention of organ allograft rejection by a specific Janus kinase 3 inhibitor. Science, 302, 875 878.
5. Choi, Y.L., Kaneda, R., Wada, T., Fujiwara, S., Soda, M., Watanabe, H., Kurashina, K., Hatanaka, H., Enomoto, M., Takada, S., Yamashita, Y. Mano, H. (2006) Identification of a constitutively active mutant of JAK3 by retroviral expression screening. Leukemia Research, 31, 203 209.
6. De Vita, S., Mulligan, C., McElwaine, S., Dagna-Bricarelli, F., Spinelli, M., Basso, G., Nizetic, D. Groet, J. (2007) Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome. British Journal of Haematology, 137, 337 341.
7. Deguchi, K. Gilliland, D.G. (2002) Cooperativity between mutations in tyrosine kinases and in hematopoietic transcription factors in AML. Leukemia, 16, 740 744.
8. Girault, J., Labesse, G., Mornon, J. Callebaut, I. (1999) The N-termini of FAK and JAKs contain divergent band 4.1 domains. Trends in Biochemical Sciences, 24, 54 57.
9. Groet, J., McElwaine, S., Spinelli, M., Rinaldi, A., Burtscher, I., Mulligan, C., Mensah, A., Cavani, S., Dagna-Bricarelli, F., Basso, G., Cotter, F.E. Nizetic, D. (2003) Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder. Lancet, 361, 1617 1620.
10. Hirose, Y., Kudo, K., Kiyoi, H., Hayashi, Y., Naoe, T. Kojima, S. (2003) Comprehensive analysis of gene alterations in acute megakaryoblastic leukemia of Down's syndrome. Leukemia, 17, 2250 2252.
11. Hitzler, J.K. Zipursky, A. (2005) Origins of leukaemia in children with Down syndrome. Nature Reviews Cancer, 5, 11 20.
12. Hitzler, J.K., Cheung, J., Li, Y., Scherer, S.W. Zipursky, A. (2003) GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood, 101, 4301 4304.
13. Ito, E., Kasai, M., Hayashi, Y., Toki, T., Arai, K., Yokoyama, S., Kato, K., Tachibana, N., Yamamoto, M. Yokoyama, M. (1995) Expression of erythroid-specific genes in acute megakaryoblastic leukaemia and transient myeloproliferative disorder in Down's syndrome. British Journal of Haematology, 90, 607 614.
14. James, C., Ugo, V., Le Couedic, J.P., Staerk, J., Delhommeau, F., Lacout, C., Garcon, L., Raslova, H., Berger, R., Bennaceur-Griscelli, A., Villeval, J.L., Constantinescu, S.N., Casadevall, N. Vainchenker, W. (2005) A unique clonal JAK2 mutation leading to constitutive signaling causes polycythemia vera. Nature, 434, 1144 1148.
15. Kanezaki, R., Toki, T., Xu, G., Narayanan, R. Ito, E. (2006) Cloning and characterization of the novel chimeric gene p53/FXR2 in the acute megakaryoblastic leukemia cell line CMK11-5. Tohoku Journal of Experimental Medicine, 209, 169 180.
16. Kiyoi, H., Yamaji, S., Kojima, S. Naoe, T. (2007) JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults. Leukemia, 21, 574 576.
17. Klusmann, J.H., Reinhardt, D., Hasle, H., Kaspers, G.J., Creutzig, U., Hahlen, K., van den Heuvel-Eibrink, M.M. Zwaan, C.M. (2007) Janus kinase mutations in the development of acute megakaryoblastic leukemia in children with and without Down's syndrome. Leukemia, 21, 1584 1587.
18. Leonard, W.J. (2000) X-linked severe combined immunodeficiency: from molecular cause to gene therapy within seven years. Molecular Medicine Today, 6, 403 407.
19. Levine, R.L., Wadleigh, M., Cools, J., Ebert, B.L., Wernig, G., Huntly, B.J., Boggon, T.J., Wlodarska, I., Clark, J.J., Moore, S., Adelsperger, J., Koo, S., Lee, J.C., Gabriel, S., Mercher, T., D'Andrea, A., Frohling, S., Dohner, K., Marynen, P., Vandenberghe, P., Mesa, R.A., Tefferi, A., Griffin, J.D., Eck, M.J., Sellers, W.R., Meyerson, M., Golub, T.R., Lee, S.J. Gilliland, D.G. (2005) Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell, 7, 387 397.
20. Miyazaki, T., Kawahara, A., Fujii, H., Nakagawa, Y., Minami, Y., Liu, Z.J., Oihsi, I., Silvennoinen, O., Witthuhn, B.A., Ihle, J.N. Taniguchi, T. (1994) Functional activation of Jak1 and Jak3 by selective association with IL-2 receptor subunits. Science, 266, 1045 1047.
21. Morita, S., Kojima, T. Kitamura, T. (2000) Plat-E: an efficient and stable system for transient packaging of retroviruses. Gene Therapy, 7, 1063 1066.
22. Mundschau, G., Gurbuxani, S., Gamis, A.S., Greene, M.E., Arceci, R.J. Crispino, J.D. (2003) Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis. Blood, 101, 4298 4300.
23. Norton, A., Fisher, C., Liu, H., Wen, Q., Mundschau, G., Fuster, J.L., Hasle, H., Zeller, B., Webb, D.K., O'Marcaigh, A., Sorrell, A., Hilden, J., Gamis, A., Crispino, J.D. Vyas, P. (2007) Analysis of JAK3, JAK2, and C-MPL mutations in transient myeloproliferative disorder and myeloid leukemia of Down syndrome blasts in children with Down syndrome. Blood, 110, 1077 1079.
24. Rainis, L., Bercovich, D., Strehl, S., Teigler-Schlegel, A., Stark, B., Trka, J., Amariglio, N., Biondi, A., Muler, I., Rechavi, G., Kempski, H., Haas, O.A. Izraeli, S. (2003) Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood, 102, 981 986.
25. Russell, S.M., Tayebi, N., Nakajima, H., Riedy, M.C., Roberts, J.L., Aman, M.J., Migone, T.S., Noguchi, M., Markert, M.L., Buckley, R.H., O'Shea, J.J. Leonard, W.J. (1995) Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. Science, 270, 797 800.
26. Silvennoinen, O., Witthuhn, B.A., Quelle, F.W., Cleveland, J.L., Yi, T. Ihle, J.N. (1993) Structure of the murine Jak2 protein-tyrosine kinase and its role in interleukin 3 signal transduction. Proceedings of the National Academy of Sciences of the United States of America, 90, 8429 8433.
27. Walters, D.K., Mercher, T., Gu, T.L., O'Hare, T., Tyner, J.W., Loriaux, M., Goss, V.L., Lee, K.A., Eide, C.A., Wong, M.J., Stoffregen, E.P., McGreevey, L., Nardone, J., Moore, S.A., Crispino, J., Boggon, T.J., Heinrich, M.C., Deininger, M.W., Polakiewicz, R.D., Gilliland, D.G. Druker, B.J. (2006) Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell, 10, 65 75.
28. Wechsler, J., Greene, M., McDevitt, M.A., Anastasi, J., Karp, J.E., Le Beau, M.M. Crispino, J.D. (2002) Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nature Genetics, 32, 148 152.
29. Xu, G., Nagano, M., Kanezaki, R., Toki, T., Hayashi, Y., Taketani, T., Taki, T., Mitui, T., Koike, K., Kato, K., Imaizumi, M., Sekine, I., Ikeda, Y., Hanada, R., Sako, M., Kudo, K., Kojima, S., Ohneda, O., Yamamoto, M. Ito, E. (2003) Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down's syndrome. Blood, 102, 2960 2968.
30. Yamashita, Y., Kajigaya, S., Yoshida, K., Ueno, S., Ota, J., Ohmine, K., Ueda, M., Miyazato, A., Ohya, K., Kitamura, T., Ozawa, K. Mano, H. (2001) Sak serine/threonine kinase acts as an effector of Tec tyrosine kinase. Journal of Biological Chemistry, 276, 39012 39020.
31. Zhou, Y.J., Chen, M., Cusack, N.A., Kimmel, L.H., Magnuson, K.S., Boyd, J.G., Lin, W., Roberts, J.L., Lengi, A., Buckley, R.H., Geahlen, R.L., Candotti, F., Gadina, M., Changelian, P.S. O'Shea, J.J. (2001) Unexpected effects of FERM domain mutations on catalytic activity of Jak3: structural implication for Janus kinases. Molecular Cell, 8, 959 969.