A loss-of-function mutation of c-kit results in depletion of mast cells and interstitial cells of Cajal, while its gain-of-function mutation results in their oncogenesis

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 477, Issue 1-2, 2001, Pages 165-171

  Kitamura, Yukihiko ^a   Hirota, Seiichi ^a   Nishida, Toshirou ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

C kit; Gastrointestinal stromal tumor (G ST); Interstitial cell of Cajal mast cell disease; Mast cell

Indexed keywords

ASPARTIC ACID; PROTEIN TYROSINE KINASE; STEM CELL FACTOR RECEPTOR;

ARTICLE; CARCINOGENESIS; CELL VOLUME; COMPARATIVE STUDY; DIMERIZATION; EXPERIMENTAL MOUSE; FAMILIAL CANCER; GENE ACTIVATION; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC MODEL; HUMAN; INTERSTITIUM; MAST CELL; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SITE DIRECTED MUTAGENESIS; STOMACH CARCINOMA; STOMACH LESION;

ANIMALS; GASTROINTESTINAL NEOPLASMS; HUMANS; MAST CELLS; MAST-CELL SARCOMA; MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; STOMACH; STROMAL CELLS;

EID: 0035796043     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(01)00117-8     Document Type: Article

References (38)

1. v mice and their increase by bone marrow transplantation. Blood. 52:1978;447-452.
2. v mice after bone marrow transplantation. Nature. 281:1979;154-155.
3. Hirota S., Isozaki K., Moriyama Y., Hashimoto K., Nishida T., Ishiguro S., Kawano K., Hanada M., Kurata A., Takeda M., Tunio G.M., Matsuzawa Y., Kanakura Y., Shinomura Y., Kitamura Y. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 279:1998;577-580.
4. Nishida T., Hirota S., Taniguchi M., Hashimoto K., Isozaki K., Nakamura H., Kanakura Y., Tanaka T., Takabayashi A., Matsuda H., Kitamura Y. Familial gastrointestinal stromal tumors with germline mutation of the KIT gene. Nature Genet. 19:1998;323-324.
5. Snyder H.W. Jr., Broudeur D., Zuckerman E.E., Hardy W.D. A new acute transforming feline retrovirus and relationship of its oncogene v-kit with the protein kinase gene family. Nature. 320:1986;415-421.
6. Yarden Y., Kuang W.J., Yang-Feng T., Coussens L., Munemitsu S., Dull T.J., Chen E., Schlessinger J., Francke U., Ullrich A. Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J. 6:1988;3341-3351.
7. Qiu F.H., Ray H.P., Brown Y., Barker P.E., Jhanwar S., Ruddle F.H., Besmer P. Primary structure of c-kit: relationship with the CSF-1/PDGF receptor kinase family-oncogenic activation of v-kit involves deletion of extracellular domain and C-terminus. EMBO J. 7:1988;1003-1011.
8. Tsujimura T., Hirota S., Nomura S., Niwa Y., Yamazaki M., Tono T., Morii E., Kim H.M., Kondo K., Nishimune Y., Kitamura Y. Characterization of Ws mutant allele of rats: a 12 base deletion in tyrosine kinase domain of c-kit gene. Blood. 78:1991;1942-1946.
9. Chabot B., Stephenson D.A., Chapman V.M., Besmer P., Bernstein A. The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus. Nature. 335:1988;88-89.
10. Geissler E.N., Ryan M.A., Housman D.E. The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene. Cell. 55:1988;185-192.
11. 41 and W. EMBO J. 9:1990;1805-1813.
12. Russell E.S. Hereditary anemias of the mouse: a review for geneticists. Adv. Genet. 20:1979;357-459.
13. Maeda H., Yamagata A., Nishikawa S., Yoshinaga K., Kobayashi S., Nishi K., Nishikawa S-I. Requirement of c-kit for development of intestinal pacemaker system. Development. 116:1992;369-375.
14. Huizinga J.D., Thuneberg L., Kluppel M., Malysz J., Mikkelsen H.B., Bernstein A. W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity. Nature. 373:1995;347-349.
15. Williams D.E., Eisenman J., Baird A., Rauch C., Ness K.V., March C.J., Park L.S., Martin U., Mochizuki D.Y., Boswell H.S., Burgess G.S., Cosman D., Lyman S.D. Identification of a ligand for the c-kit proto-oncogene. Cell. 63:1990;167-174.
16. Flanagan J.G., Leder P. The kit ligand: a cell surface molecule altered in steel mutant fibroblasts. Cell. 63:1990;185-194.
17. Zsebo K.M., Williams D.A., Geissler E.N., Broudy Y.C., Martin F.H., Atkins H.L., Hsu R.Y., Birkitt N.C., Okino K.H., Murdock D.C., Jacobson F.W., Langley K.E., Smith K.A., Takeishi T., Cattanach B.M., Galli S.J., Suggs V. Stem cell factor is encoded at the Sl locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor. Cell. 63:1990;213-224.
18. d anemic mice. Blood. 53:1979;492-497.
19. Ward S.M., Burns A.J., Torihashi S., Harney S.C., Sanders K.M. Impaired development of interstitial cells and intestinal electrical rhythmicity in steel mutants. Am. J. Physiol. 269:1995;1577-1585.
20. v mice and their increase by bone marrow transplantaion. Blood. 52:1979;447-452.
21. Niwa Y., Kasugai T., Ohno K., Morimoto M., Yamazaki M., Dohmae K., Nishimune Y., Kondo K., Kitamura Y. Anemia and mast cell-depletion in mutant rats that are homozygous at "white spotting (Ws)" locus. Blood. 78:1991;1936-1941.
22. Isozaki K., Hirota S., Nakama A., Miyagawa J-I., Shinomura Y., Xu Z., Nomura S., Kitamura Y. Disturbed intestinal movement, bile reflux to the stomach, and deficiency of c-kit-expressing cells in Ws/Ws mutant rats. Gastroenterology. 109:1995;456-464.
23. Giebel L.B., Spritz R.A. Mutation of the c-kit protooncogene in human piebaldism. Proc. Natl. Acad. Sci. USA. 88:1991;8696-8699.
24. d genotypes. Cancer Res. 40:1980;3392-3397.
25. v genotype. Gastroenteology. 82:1982;857-863.
26. Suzuki N., Prosser C.L., Dahms V. Boundary cells between longitudinal and circular layers: essential for electrical slow waves in cat intestine. Am. J. Physiol. 250:1986;G287-294.
27. Ullrich A., Schlessinger J. Signal transduction by receptors with tyrosine kinase activity. Cell. 61:1990;203-212.
28. Furitsu T., Tsujimura T., Tono T., Ikeda H., Kitayama H., Koshimizu U., Sugahara H., Butterfield J.H., Ashman L.K., Kanayama Y., Matsuzawa Y., Kitamura Y., Kanakura Y. Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. J. Clin. Invest. 92:1993;1736-1744.
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. 83:1994;2619-2626.
30. Tsujimura T., Furitsu T., Morimoto M., Kanayama Y., Nomura S., Matsuzawa Y., Kitamura Y., Kanakura Y. Substitution of an aspartic acid results in constitutive activation of c-kit receptor tyrosine kinase in a rat tumor mast cell line RBL-2H3. Int. Arch. Allergy Immunol. 106:1995;377-385.
31. Hashimoto K., Tsujimura T., Moriyama Y., Yamatodani A., Kimura M., Tohya K., Morimoto M., Kitamaya H., Kanakura Y., Kitamura Y. Transforming and differentiation-inducing potentials of constitutively activated c-kit mutant genes in the IC-2 murine interleukin-3-dependent mast cell line. Am. J. Pathol. 148:1996;189-200.
32. Kitayama H., Kanakura Y., Furitsu T., Tsujimura T., Oritani K., Ikeda H., Sugahara H., Mitsui H., Kanayama Y., Kitamura Y., Matsuzawa Y. Consitutively activating mutantions of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. Blood. 85:1995;790-798.
33. Tsujimura T., Morimoto M., Hashimoto K., Moriyama Y., Kitayama H., Matsuzawa Y., Kitamura Y., Kanakura Y. Constitutive activation of c-kit in FMA3 murine mastocytoma cells caused by deletion of seven amino acids at the juxtamembrane domain. Blood. 87:1996;273-283.
34. Nagata H., Worobec A.S., Oh C.K., Chowdhury B.A., Tannenbaum S., Suzuki Y., Metcalfe D.D. 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. 92:1995;10560-10564.
35. Longley B.J., Tyrrell L., Lu S-Z., Ma Y-S., Langley K., Ding T-G., Duffy T., Jacobs P., Tang L.H., Modlin I. Somatic c-kit activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nature Genet. 12:1996;312-314.
36. London C.A., Galli S.J., Yuuki T., Hu Z.Q., Helfand S.C., Geissler E.N. Spontaneous canine mast cell tumors express tandem duplications in the proto-oncogene c-kit. Exp. Hematol. 27:1999;689-697.
37. Taniguchi M., Nishida T., Hirota S., Isozaki K., Ito T., Nomura T., Matsuda H., Kitamura Y. Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res. 59:1999;4297-4300.
38. Hirota S., Okazaki T., Kitamura Y., O'Brien P., Kapusta L., Dardick I. Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene. Am. J. Surg. Pathol. 24:2000;326-327.