A point mutation in the catalytic domain of c-kit induces growth factor independence, tumorigenicity, and differentiation of mast cells

Blood

Volumn 87, Issue 8, 1996, Pages 3117-3123

  Piao, Xianhua ^b   Bernstein, Alan ^a  

^a MOUNT SINAI HOSPITAL   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GROWTH FACTOR; MUTANT PROTEIN; ONCOPROTEIN;

ANIMAL CELL; ARTICLE; CARCINOGENICITY; CATALYSIS; CELL DIFFERENTIATION; CELL PROLIFERATION; CONTROLLED STUDY; EXPRESSION VECTOR; MAST CELL; NONHUMAN; ONCOGENE C KIT; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DETERMINATION; RETROVIRUS; SITE DIRECTED MUTAGENESIS; VIRUS CELL TRANSFORMATION; VIRUS EXPRESSION;

EID: 0029962928     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.8.3117.bloodjournal8783117     Document Type: Article

References (44)

1. Yarden Y, Ullrich A: Growth factor receptor tyrosine kinases. Annu Rev Biochem 57:443, 1988
2. Chabot B, Stephenson DA, Chapman VM, Besmer P, Bernstein A: The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature 335:88, 1988
3. Geissler EN, Ryan MA, Housman DE: The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell 55:185, 1988
4. Anderson DM, Lyman SD, Baird A, Wignall JM, Eisenman J, Rauch C, March CJ, Boswell HS, Gimpel SD, Cosman D: Molecular cloning of mast cell growth factor, a hematopoietin that is active in both membrane bound and soluble forms. Cell 63:235, 1990
5. Copeland NG, Gilbert DJ, Cho BC, Donovan PJ, Jenkins NA, Cosman D, Anderson D, Lyman S, Williams DE: Mast cell growth factor maps near the steel locus on mouse chromosome 10 and is deleted in a number of steel alleles. Cell 63:175, 1990
6. Martin FH, Suggs SV, Langley KE, Lu HS, Ting J, Okino KH, Morris CF, McNiece IK, Jacobsen FW, Mendiaz EA: Primary structure and functional expression of rat and human stem cell factor DNAs. Cell 63:203, 1990
7. Williams DE, Eisenman J, Baird A, Rauch C, Van NK, March CJ, Park LS, Martin U, Mochizuki DY, Boswell HS: Identification of a ligand for the c-kit proto-oncogene. Cell 63:167, 1990
8. Zsebo KM, Williams DA, Geissler EN, Broudy VC, Martin FH, Atkins HL, Hsu RY, Birkett NC, Okino KH, Murdock DC: Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell 63.213, 1990
9. Zsebo KM, Wypych J, McNiece IK, Lu HS, Smith KA, Karkare SB, Sachdev RK, Yuschenkoff VN, Birkett NC, Williams LR: Identification, purification, and biological characterization of hematopoietic stem cell factor from buffalo rat liver-conditioned medium. Cell 63:195, 1990
10. Russell ES: Hereditary anemias of the mouse: a review for geneticists [review]. Adv Genet 20;357, 1979
11. Geissler EN, McFarland EC, Russell ES: Analysis of pleiotropism at the dominant white-spotting (W) locus of the house mouse: a description of ten new W alleles. Genetics 97:337, 1981
12. Reith AD, Rottapel R, Giddens E, Brady C, Forrester L, Bernstein A: W mutant mice with mild or severe developmental defects contain distinct point mutations in the kinase domain of the c-kit receptor. Genes Dev 4:390, 1990
13. Huizinga JD, Thuneberg L, Kluppel M, Malysz J, Middelsen HB, Bernstein A: W/Kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity. Nature 373.347, 1995
14. Ward SM, Burns AJ, Torihashi S, Sanders KM: Mutation of the proto-oncogene c-kit blocks development of interstitial cells and electrical rhythmicity in murine intestine. J Physiol 480:91, 1994
15. Motro B, Wojtowicz JM, Bernstein A, van der Kooy D: Steel mutant mice are deficient in hippocampal learning but not long term potentiation. Proc Natl Acad Sci USA (in press)
16. 42 spotting phenotype results from a missense mutation in the c-kit receptor kinase. Science 247:209, 1990
17. Nocka K, Tan JC, Chiu E, Chu TY, Ray P, Traktman P, Besmer P: Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W. EMBO J 9:1805, 1990
18. Dubreuil P, Rottapel R, Reith AD, Forrester L, Bernstein A: The mouse W/c-kit locus. A mammalian gene that controls the development of three distinct cell lineages. Ann NY Acad Sci 599:58, 1990
19. Reith AD, Bernstein A: Molecular biology of the W and Steel loci, in Davies KE, Tilghman SM (eds): Genome Analysis, vol 3. Genes and Phenotypes. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory, 1991, p 105
20. Blume-Jensen P, Claesson-Welsh L, Seigbahn A, Zsebo KM, Westermark B, Heldin CH: Activation of the human c-kit product by ligand-induced dimerization mediates circular actin reorganization and chemotaxis. EMBO J 10:4121, 1991
21. Lev S, Yarden Y, Givol D: Dimerization and activation of the Kit receptor by monovalent and bivalent binding of the stem cell factor. J Biol Chem 267:15970, 1992
22. Koch CA, Anderson D, Moran MF, Ellis C, Pawson T: SH2 and SH3 domains: Elements that control interactions of cytoplasmic signaling proteins. Science 252:668, 1991
23. Lev S, Givol D, Yarden Y: A specific combination of substrates is involved in signal transduction by the kit-encoded receptor. EMBO J 10:647, 1991
24. Reith AD, Ellis C, Lyman SD, Anderson DM, Williams DE, Bernstein A, Pawson T: Signal transduction by normal isoforms and W mutant variants of the Kit receptor tyrosine kinase. EMBO J 10:2451, 1991
25. Rottapel R, Reedijk M, Williams DE, Lyman SD, Anderson DM, Pawson T, Bernstein A: The Steel/W transduction pathway: Kit autophosphorylation and its association with a unique subset of cytoplasmic signaling proteins is induced by the Steel factor. Mol Cell Biol 11:3043, 1991
26. Bargmann CI, Hung M-C, Weinberg RA: Multiple independent activations of the neu oncogene by a point mutation altering the transmembrane domain of p185. Cell 45:649, 1986
27. Roussel MF, Downing JR, Rettenmier CW, Sherr CJ: A point mutation in the extracellular domain of the human CSF-1 receptor (c-fms proto-oncogene product) activates its transforming potential. Cell 55:979, 1988
28. Weiner DB, Liu J, Cohen JA, Williams WV, Greene MI: A point mutation in the neu oncogene mimics ligand induction of receptor aggregation. Nature 339:230, 1989
29. Tsujimura T, Furitsu T, Morimoto M, Isozaki K, Nomura S, Matsuzawa Y, Kitamura Y, Kanakura Y: Ligand-independent activation of c-kit receptor tyrosine kinase in a murine mastocytoma cell line P-815 generated by a point mutation. Blood 83:2619, 1994
30. Kitayama H, Kanakura Y, Furitsu T, Tsujimura T, Oritani K, Ikeda H, Sugahara H, Mitsui H, Kanayama Y, Kitamura Y: Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. Blood 85:790, 1995
31. Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, Sugahara H, Butterfield JH, Ashman LK, Kanayama Y: Identification of mutations in the coding sequence of the protooncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J Clin Invest 92:1736, 1993
32. Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, Metcalfe DD: Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci USA 92:10560, 1995
33. Koyasu S, Nakauchi H, Kitamura K, Yonehara S, Okunura K, Tada T, Yahara I: Production of interleukin 3 and γ-interferon by an antigen-specific mouse suppressor T cell clone. J Immunol 134:3130, 1985
34. Alexander WS, Lyman SD, Wagner EF: Expression of functional c-kit receptor rescues the genetic defect of W mutant mast cells. EMBO J 10:3683, 1991
35. Pear WS, Nolan GP, Scott ML, Baltimore D: Production of high-liter helper-free retroviruses by transient transfection. Proc Natl Acad Sci USA 90:8392, 1993
36. Wang HM, Collins M, Arai K, Miyajima A: EGF induces differentiation of an IL-3-dependent cell line expressing the EGF receptor. EMBO J 8:3677, 1989
37. Gurish MF, Ghildyal N, McNeil HP, Austen KF, Gillis S, Stevens RL: Differential expression of secretory granule proteases in mouse mast cells exposed to interleukin 3 and c-kit ligand. J Exp Med 175:1003, 1992
38. Knighton DR, Zheng JH, Ten EL, Xuong NH, Taylor SS, Sowadski JM: Structure of a peptide inhibitor bound to the catalytic subunit of cyclic adenosine monophosphate-dependent protein kinase. Science 253:414, 1991
39. Hubbard SR, Wei L, Ellis L, Hendrickson WA: Crystal structure of the tyrosine kinase domain of the human insulin receptor. Nature 372:746, 1994
40. Morgan DO, De BH: Protein kinase regulation: insights from crystal structure analysis. [review]. Curr Opin Cell Biol 6:239, 1994
41. Terasawa H, Kohda D, Hatanaka H, Nagata K, Higashihashi N, Fujiwara H, Sakano K, Inagaki F: Solution structure of human insulin-like growth factor II; recognition sites for receptors and bind-ing proteins EMBO J 13:5590, 1994
42. Songyang Z, Carraway KL III, Eck MJ, Harrison SC, Feldman RA, Mohammadi M, Schlessinger J, Hubbard SR, Smith DP, Eng C, Lorenzo MJ, Ponder BAJ, Mayer BJ, Catley LC: Catalytic specificity of protein-tyrosine kinases is critical for selective signaling. Nature 373:536, 1995
43. Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, Fusco A, Vecchio G, Matoskova B, Kraus MH: Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 267:381, 1995
44. Hanks SK, Quinn AM, Hunter T: The protein kinase family: Conserved features and deduced phytogeny of the catalytic domains [review]. Science 241:42, 1988