Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: Implications for therapeutic options

Human Molecular Genetics

Volumn 17, Issue 3, 2008, Pages 419-430

  Senawong, Thanaset ^a,b   Phuchareon, Janyaporn ^a,b   Ohara, Osamu ^c   Mccormick, Frank ^b   Rauen, Katherine A ^a,b   Tetsu, Osamu ^a,b,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c KAZUSA DNA RESEARCH INSTITUTE   (Japan)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

1,4 DIAMINO 1,4 BIS(2 AMINOPHENYLTHIO) 2,3 DICYANOBUTADIENE; ALANINE; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE INHIBITOR; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE; RAF PROTEIN; SB 590885; SERINE; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DRUG ACTIVITY; ENZYME ACTIVATION; ENZYME PHOSPHORYLATION; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; SIGNAL TRANSDUCTION;

ANIMALS; BINDING SITES; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; CRANIOFACIAL ABNORMALITIES; GERM-LINE MUTATION; HEART DEFECTS, CONGENITAL; HUMANS; IMIDAZOLES; MAP KINASE KINASE 1; MAP KINASE KINASE 2; MAP KINASE SIGNALING SYSTEM; PHOSPHORYLATION; PROTEIN KINASE INHIBITORS; RAF KINASES; RATS; RECOMBINANT PROTEINS; SKIN ABNORMALITIES; SYNDROME;

EID: 38349094750     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm319     Document Type: Article

References (37)

1. Macdonald, S.G. and McCormick, F. (1997) The Ras/Raf/ERK signaling transduction pathway. In Peters, G. and Vousden, K.H. (eds), Oncogenes and Tumor Suppressors, Oxford University Press, Oxford, UK, pp. 121-153.
2. English, J.M. and Cobb, M.H. (2002) Pharmacological inhibitors of MAPK pathways. Trends Pharmacol. Sci., 23, 40-45.
3. Sebolt-Leopold, J.S. and Herrera, R. (2004) Targeting the mitogen-activated protein kinase cascade to ftat cancer. Nat. Rev. Cancer, 4, 937-947.
4. Duesbery, N. and Vande Woude, G. (2006) BRAF and MEK mutations make a late entrance. Sci. STKE, 328, e15.
5. Davies, H, Bignell, G.R., Cox, C., Stephens, P., Edkins, S., Clegg, S., Teague, J., Woffendin, H., Garnett, M.J., Bottomley, W. et al. (2002) Mutations of the BRAF gene in human cancer. Nature, 417 949-954.
6. Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Filocamo, M., Katol K., Suzuki, Y., Kure, S. and Matsubara, Y. (2005) Germline mutations in HRAS proto-oncegene cause Costello syndrome. Nat Genet., 37, 1038-1040.
7. Rodriguez-Viciana, P., Tetsu, O., Tidyman, W.E., Estep, A.L., Conger, B.A., Cruz, M.S., McCormick, F. and Rauen, K.A. (2006) Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science, 311, 1287-1290.
8. Niihori, T., Aoki, Y., Narumi, Y., Neri, G., Cave, H., Verloes, A., Okamoto, N., Hennekam, R.C., Gillessen-Kaesbach, G., Wieczorek, D. et al. (2006) Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat. Genet., 38, 294-296.
9. Bisogno, G., Murgia, A., Mammi, I., Strafella, M.S. and Carli, M. (1999) Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome. J. Pediatr. Hematol. Oncol., 21, 424-427.
10. Al-Rahawan, M.M., Chute, D.J., Sol-Church, K., Gripp, K.W., Stabley, D.L., McDaniel, N.L., Wilson, W.G. and Waldron, P.E. (2007) Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. Am. J. Med. Genet. A., 143, 1481-1488.
11. Makita, Y., Narumi, Y., Yoshida, M., Niihori, T., Kure, S., Fujieda, K., Matsubara, Y. and Aoki, Y. (2007) Leukemia in cardio-facio-cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene. J. Pediatr. Hematol. Oncol., 29, 287-290.
12. Rauen, K.A. (2OD6) Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. Am. J. Med. Genet. A, 140, 1681-1683.
13. Mansour, S.J., Matten, W.T., Hermann, A.S., Candia, J.M., Rong, S., Fukasawa, K., Vande Woude, G.F. and Ahn, N.G, (1994) Transformation of mammalian-cells by constitutively active map kinase. Science, 265, 966-970.
14. Mansour, S.J., Candia, J.M., Matsuura, J.E., Manning, M,C. and Ahn, N.G. (1996) Interdependent domains controlling the enzymatic activity pf mitogen-activated protein kinase kinise 1. Biochemistry, 35, 15529-15536.
15. Wan, P.T., Garnett, M.J. Roe, S.M., Lee, S., Niculescu-Duvaz, D., Good, V.M., Jones, C.M., Marshall, C.J., Springer, C.J., Barford, D. et al (2004) Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-PAF. Cell, 116: 855-867.
16. Zheng C.F. and Guan, K.L. (1994) Activation of Mek family kinases requires phosphorylation of 2 conserved Ser/Thr residues. EMBO J., 13, 1123-1131.
17. Ohren, J.F., Chen, H., Pavlovsky, A., Whitehead, C., Zhang, E., Kuffa, P., Yan, C., McConnell, P. Spessard, C., Banotai C. et al. (2004) Structures of human MAP kinase kinase 1 (MEK1) and MEK2 descfibe novel noncompetitive kinase inhibition. Nat. Struct. Mol. Biol., 11 1192-1197.
18. King, A.J., Patrick, D.R., Batorsky, R.S., Ho, M.L., Do, H.T., Zhang, S.Y., Kumar, R.; Rusnak, D.W., Takle, A.K., Wilson D.K. et al. (2006) Demonstration of a genetic therapeutic index for tumors expressing oncogenic BRAF by the kinase inhibitor SB-590885. Cancer Res., 66, 11100-11105.
19. Tetsu, O. and McCormick, F. (2003) Proliferation of cancer cells despite CDK2 inhibition. Cancer Cell, 3, 233-245.
20. Favata, M.F., Horiuchi, K-Y., Manos, E.J., Daulerio, A.J., Stradley, D.A., Feeser, W.S., Van Dyk, D.E., Pitts, W.J., Earl, R.A., Hobbs, F. et al. (1998) Identification of a novel inhibitor of mitogen-activated protein kinase kinase. J. Biol. Chem., 273 18623-18632.
21. Davies, S.P., Reddy, H., Caivano, M. and Cohen, P. (2000) Specificity and mechanism of action of some commonly used protein kinase inhibitors. Biochem. J., 351, 95-105.
22. Delaney, A.M., Printen, J.A., Chen, H., Fauman, E.B. and Dudley, D.T. (2002) Identification of a novel mitogen-activated protein kinase kinase activation domain recognized by the inhibitor PD 184352. Mol. Cell. Biol., 22, 7593-7602.
23. Sharrocks, A.D., Yang, S.H. and Galanis, A. (2000) Docking domains and substrate-specificity determination for MAP kinases. Trends Biochem. Sci., 25, 448-453.
24. Okabe, H., Lee, S.H., Phuchareon, J., Albertson, D.G., McCormick F. and Tetsu, O. (2006) A critical role for FBXW8 and MAPK in cyclin D1 degradation and cancer cell proliferation. PLoS ONE, 1, e128.
25. Bardwell, A.J., Flatauer, L.J., Matsukuma, K., Thorner, J. and Bardwell, L. (2001) A conserved docking site in MEKs mediates high-affinity binding to MAP kinases and cooperates with a scaffold protein to enhance signal transmission. J. Biol. Chem., 276, 10374-10386.
26. Hoshino, R., Chatani, Y., Yamori, T., Tsuruo, T., Oka, H., Yoshida, O., Shimada, Y., Ari-I, S., Wada, H., Fujimoto, J. et al. (1999) Constitutive activation of the 41-/43-kDa mitogen-activated protein kinase signaling pathway in human tumors. Oncogene, 18, 813-822.
27. Giroux, S., Tremblay, M., Bernard, D., Cardin-Girard, U., Aubry, S., Larouche, L., Rousseau, S., Hunt, J., Landry, J., Jeannotte, L. et al. (1999) Embryonic death of Mek1-deficient mice reveals a role for this kinase in angiogenesis in the labyrinthine region of the placenta. Curr. Biol., 9, 369-372.
28. Belanger, L.F., Roy, S., Tremblay, M., Brott, B., SteM A.M., Mourad, W., Hugo, P., Erikson, R. and Charron, J. (2003) Mek2 is dispensable for mouse growth and development. Mol. Cell. Biol., 23, 4778-4787.
29. Brott, B.K., Alessandrini, A., Largaespada, D.A., Copeland, N.G., Jenkins, N.A., Crews, C.M. and Erikson, R.L. (1993) MEK2 is a kinase related to MEK1 and is differentially expressed in murine tissues. Cell Growth Differ., 4, 921-929.
30. Wu, J., Harrison, J.K., Dent, P., Lynch, K.R., Weber, M.J. and Sturgill, T.W. (1993) Identification and characterization of a new mammalian mitogen-activated protein kinase kinase, MKK2. Mol. Cell. Biol., 13, 4539-4548.
31. Cowley, S., Paterson, H., Kemp, P. and Marshall, C.J. (1994) Activation of MAP kinase kinase is necessary and sufficient for PC12 differentiation and for transformation of NIH 3T3 cells. Cell, 77, 841-852.
32. Sebolt-Leopold, J.S., Dudley, D.T., Herrera, R., Van Becelaere, K., Wiland, A., Gowan, R.C., Tecle, H., Barrett, S.D., Bridges, A., Przybranowskii, S. et al. (1999) Blockade of the MAP kinase pathway suppresses growth of colon tumors in vivo. Nat. Med., 5 810-816.
33. Solit, D.B., Garraway, L.A., Pratilas, C.A., Sawai, A., Getz, G., Basso, A., Ye, Q., Lobo, J.M., She, Y., Osman I. et al. (2006) BRAF mutation predicts sensitivity to MEK inhibition. Nature, 439 358-362.
34. Duesbery, N!.S., Webb, C.P., Leppla, S.H., Gordon, V.M, Klimpel, K.R., Copeland, T.D., Ahn, N.G., Oskarsson, M.K., Fukasawa, K., Paull, K.D. et al. (1998) Proteolytic inactivation of MAP-kinase - kinase by anthrax lethal factor. Science, 280, 734-737.
35. Duesbery, N.S., Resau, J., Webb, C.P., Koochekpour, S., Koo, H.M., Leppla, S.H. and Vande Woude, G.F. (2001) Suppression of ras-mediated transformation and inhibition of tumor growth and angiogenesis by anthrax lethal factor, a proteolytic inhibitor of multiple MEK pathways. Proc. Natl Acad. Sci. USA, 98, 4089-4094.
36. Vitale, G., Bernardi, L., Napolitani, G., Mock, M. and Montecucco, C. (2000) Susceptility of mitogen-activated protein kinase kinase family members to proteolysis by anthrax lethal factor. Biochem. J., 352, 739-745.
37. Chopra, A.P., Boone, S.A., Liang, X. and Duesbery, N.S. (2003) Anthrax lethal factor proteolysis and inactivation of MAPK kinase. J., Biol. Chem., 278, 9402-9406.