Identification of a SRC-like tyrosine kinase gene, FRK, fused with ETV6 in a patient with acute myelogenous leukemia carrying a t(6;12)(q21;p13) translocation

Genes Chromosomes and Cancer

Volumn 42, Issue 3, 2005, Pages 269-279

  Hosoya, Noriko ^a   Qiao, Ying ^a   Hangaishi, Akira ^a   Wang, Lili ^a   Nannya, Yasuhito ^a   Sanada, Masashi ^a   Kurokawa, Mineo ^a   Chiba, Shigeru ^a,b   Hirai, Hisamaru ^a,b   Ogawa, Seishi ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHIMERIC PROTEIN; ETV6 FRK PROTEIN; GENE PRODUCT; HISTONE H2B; HISTONE H4; ONCOPROTEIN; PROTEIN KINASE FYN; PROTEIN TYROSINE KINASE; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; AGED; ANIMAL CELL; ARTICLE; AUTOPHOSPHORYLATION; CASE REPORT; CELL STRAIN; CELL STRAIN 3T3; CELL STRAIN BA F3; CELL TRANSFORMATION; CHROMOSOME 12P; CHROMOSOME 6Q; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION 12; CHROMOSOME TRANSLOCATION 6; ENZYME ACTIVITY; ETV6 GENE; EXON; FEMALE; FRK GENE; GENE; GENE EXPRESSION; GENE FUSION; GENE IDENTIFICATION; GENE MUTATION; GENE REPRESSION; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKEMOGENESIS; MODULATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; RECIPROCAL CHROMOSOME TRANSLOCATION; TRANSCRIPTION REGULATION;

AGED; ANIMALS; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 6; DNA-BINDING PROTEINS; FEMALE; GENES, DOMINANT; HISTONES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKEMIA, MYELOCYTIC, ACUTE; MICE; NEOPLASM PROTEINS; NIH 3T3 CELLS; NUCLEAR PROTEINS; ONCOGENE PROTEINS, FUSION; PHOSPHORYLATION; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS C-ETS; RECOMBINANT FUSION PROTEINS; REPRESSOR PROTEINS; TRANSCRIPTION, GENETIC; TRANSLOCATION, GENETIC;

EID: 19944434021     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/gcc.20147     Document Type: Article

References (43)

1. Anneren C, Welsh M. 2002. GTK tyrosine kinase-induced alteration of IRS-protein signalling in insulin producing cells. Mol Med 8:705-713.
2. Anneren C, Reedquist KA, Bos JL, Welsh M. 2000. GTK, a Src-related tyrosine kinase, induces nerve growth factor-independent neurite outgrowth in PC12 cells through activation of the Rap1 pathway. Relationship to Shb tyrosine phosphorylation and elevated levels of focal adhesion kinase. J Biol Chem 275:29153-29161.
3. Bolen JB, Veillette A, Schwartz AM, DeSeau V, Rosen N. 1987. Activation of pp60c-src protein kinase activity in human colon carcinoma. Proc Natl Acad Sci USA 84:2251-2255.
4. Brown MT, Cooper JA. 1996. Regulation, substrates and functions of src. Biochim Biophys Acta 1287:121-149.
5. Cance WG, Craven RJ, Bergman M, Xu L, Alitalo K, Liu ET. 1994. Rak, a novel nuclear tyrosine kinase expressed in epithelial cells. Growth Differ 5:1347-1355.
6. Carroll M, Tomasson MH, Barker GF, Golub TR, Gilliland DG. 1996. The TEL platelet-derived growth factor receptor (PDGFR) fusion in chronic myelomonocytic leukemia is a transforming protein that self-associates and activates PDGFR kinase-dependent signaling pathways. Proc Natl Acad Sci USA 93:14845-14850.
7. Cartwright CA, Eckhart W, Simon S, Kaplan PL. 1987. Cell transformation hy pp60c-src mutated in the carboxy-terminal regulatory domain. Cell 49:83-91.
8. Cazzaniga G, Tosi S, Aloisi A, Giudici G, Daniotti M, Pioltelli P, Kearney L, Biondi A. 1999. The tyrosine kinase Abl-related gene ARG is fused to BTV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts. Blood 94:4370-4373.
9. Daigo Y, Furukawa Y, Kawasoe T, Ishiguro H, Fujita M, Sugai S, Nakamori S, Liefers GJ, Tollenaar RA, van de Velde CJ, Nakamura Y. 1999. Absence of genetic alteration at codon 531 of the human c-src gene in 479 advanced colorectal cancers from Japanese and Caucasian patients. Cancer Res 59:4222-4224.
10. Eguchi M, Eguchi-Ishimae M, Tojo A, Morishita K, Suzuki K, Sato Y, Kudoh S, Tanaka K, Setoyama M, Nagamura F, Asano S, Kamada N. 1999. Fusion of ETV6 to neurotrophin-3 receptor TRKC in acute myeloid leukemia with t(12;15)(p13;q25). Blood 93:1355-1363.
11. Goluh TR, Barker GF, Lovett M, Gilliland DG. 1994. Fusion of PDGF receptor to a novel ets-like gene, rel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. Cell 77:307-316.
12. Golub TR, Goga A, Barker GF, Afar DE, McLaughlin J, Bohlander SK, Rowley JD, Witte ON, Gilliland DG. 1996. Oligomerization of the ABL tyrosine kinase by the Ets protein TEL in human leukemia. Mol Cell Biol 16:4107-4116.
13. Golub TR, Barker GE, Stegmaier K, Gilliland DG. 1997. The TEL gene contributes to the pathogenesis of myeloid and lymphoid leukemias hy diverse molecular genetic mechanisms. Curr Top Microbiol Immunol 220:67-79.
14. Hayashi Y, Raimondi SC, Look AT, Behm FG, Kitchingman GR, Pui CH, Rivera GK, Williams DL. 1990. Abnormalities of the long arm of chromosome 6 in childhood acute lymphoblastic leukemia. Blood 76:1626-1630.
15. Hirai H, Varmus HE. 1990. Site-directed mutagenesis of the SH2- and SH3-coding domains of c-src produces varied phenotypes, including oncogenic activation of p60c-src. Mol Cell Biol 10:1307-1318.
16. Hu Y, Liu Y, Pelletier S, Buchdunger E, Warmuth M, Fabbro D, Hallek M, Van Etten RA, Li S. 2004. Requirement of Src kinases Lyn, Hck and Fgr for BCR-ABL1-induced B-lymphoblastic leukemia but not chronic myeloid leukemia. Nat Genet 36:453-461.
17. Iijima Y, Ito T, Oikawa T, Eguchi M, Eguchi-Ishimae M, Kamada N, Kishi K, Asano S, Sakaki Y, Sato Y. 2000. A new ETV6/TEL partner gene, ARG (ABL-related gene or ABL2), identified in an AML-M3 cell line with a t(1;12)(q25;p13) translocation. Blood 95:2126-2131.
18. Irby RB, Mao W, Coppola D, Kang J, Louheau JM, Trudeau W, Karl R, Fujita DJ, Jove R, Yeatman TJ. 1999. Activating SRC mutation in a subset of advanced human colon cancers. Nat Genet 21:187-190.
19. Jousset C, Carron C, Boureux A, Quang CT, Oury C, Dusanter-Fourt I, Charon M, Levin J, Bernard O, Ghysdael J. 1997. A domain of TEL conserved in a subset of ETS proteins defines a specific oligomerization interface essential to the mitogenic properties of the TEL-PDGFR oncoprotein. EMBO J 16:69-82.
20. Katz JA, Taylor LD, Carroll A, Elder FFB, Mahoney DH. 1991. Cytogenetic features of childhood acute lymphoblastic leukemia: a concordance study and a pediatric oncology group study. Cancer Genet Cytogenet 55:249-256.
21. Kuno Y, Abe A, Emi N, Iida M, Yokozawa T, Towatari M, Tanimoto M, Saito H. 2001. Constitutive kinase activation of the TEL-Syk fusion gene in myelodysplastic syndrome with t(9;12)(q22;p12). Blood 97:1050-1055.
22. Kurokawa M, Tanaka T, Tanaka K, Ogawa S, Mitani K, Yazaki Y, Hirai H. 1996. Overexpression of the AML1 proto-oncoprotein in NIH3T3 cells leads to neoplastic transformation depending on the DNA-binding and transactivational potencies. Oncogene 12:883-892.
23. Lacronique V, Boureux A, Valle VD, Poirel H, Quang CT, Mauchauffe M, Berthou C, Lessard M, Berger R, Ghysdael J, Bernard OA. 1997. A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia. Science 278:1309-1312.
24. Laghi L, Bianchi P, Orbetegli O, Gennari L, Roncalli M, Malesci A. 2001. Lack of mutation at codon 531 of SRC in advanced colorectal cancers from Italian patients. Br J Cancer 84:196-198.
25. Lee J, Wang Z, Luoh SM, Wood WI, Scadden DT. 1994. Cloning of FRK/RAK, a novel human intracellular SRC-tike tyrosine kinase-encoding gene. Gene 138:247-251.
26. Lopez RG, Carron C, Oury C, Gardellin P, Bernard O, Ghysdael J. 1999. TEL is a sequence-specific transcriptional repressor. J Biol Chem 274:30132-30138.
27. Maki K, Mitani K, Yamagata T, Kurokawa M, Kanda Y, Yazaki Y, Hirai H. 1999. Transcriptional inhihition of p53 hy the MLL/ MEN chimeric protein found in myeloid leukemia. Blood 93:3216-3224.
28. Ogawa S, Kurokawa M, Tanaka T, Mitani K, Inazawa J, Hangaishi A, Tanaka K, Matsuo Y, Minowada J, Tsuhota T, Yazaki Y, Hirai H. 1996. Structurally altered Evi-1 protein generated in the 3q21q26 syndrome. Oncogene 13:183-191.
29. Ottenhoff-Kalff AE, Rijksen G, van Beurden EA, Hennipman A, Michels AA, Staal GE. 1992. Characterization of protein tyrosine kinases from human breast cancer: involvement of the c-src oncogene product. Cancer Res 52:4773-4778.
30. Papadopoulos P, Ridge SA, Boucher CA, Stocking C, Wiedemann LM. 1995. The novel activation of ABL by fusion to an ets-related gene, TEL. Cancer Res 55:34-38.
31. Parker RC, Varmus HE, Bishop JM. 1984. Expression of v-src and chicken c-src in rat cells demonstrates qualitative differences hetween pp60v-src and pp60c-src. Cell 37:131-139.
32. Peeters P, Raynaud SD, Cools J, Wlodarska I, Grosgeorge J, Philip P, Monpoux F, Van Rompaey L, Baens M, Van den Berghe H, Marynen P. 1997. Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia. Blood 90:2535-2540.
33. Pinkel D, Straume T, Gray JW. 1986. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938.
34. Raimondi SC, Shurtleff SA, Downing JR, Rubnitz J, Mathew S, Hancock M, Pui CH, Rivera GK, Grosveld GC, Behm FG. 1997. 12p abnormalities and the TEL gene (KTV6) in childhood acute lymphoblastic leukemia. Blood 90:4559-4566.
35. Rompaey LV, Potter M, Adams C, Grosveld G. 2000. Tel induces a G1 arrest and suppresses Ras-induced transformation. Oncogene 29:5244-5250.
36. Schindler T, Sicheri F, Pico A, Gazit A, Levitzki A, Kuriyan J. 1999. Crystal structure of Hck in complex with a Src family-selective tyrosine kinase inhihitor. Mol Cell 3:639-648.
37. Talamonti MS, Roh MS, Curley SA, Gallick GE. 1993. Increase in activity and level of pp60c-src in progressive stages of human colorectal cancer. J Clin Invest 91:53-60.
38. Tycko B, Smith SD, Sklar J. 1991. Chromosomal translocations joining LCK and TCRB loci in human T cell leukemia. J Exp Med 174:867-873.
39. Waga K, Nakamura Y, Maki K, Arai H, Yamagata T, Sasaki K, Kurokawa M, Hirai H, Mitani K. 2003. Leukemia-related transcription factor TEL accelerates differentiation of Friend erythroleukemia cells. Oncogene 22:59-68.
40. Wang NM, Yeh KT, Tsai CH, Chen SJ, Chang JG. 2000. No evidence of correlation between mutation at codon 531 of src and the risk of colon cancer in Chinese. Cancer Lett 150:201-204.
41. Wright DD, Sefton BM, Kamps MP. 1994. Oncogenic activation of the Lck protein accompanies translocation of the LCK gene in the human HSB2 T-cell leukemia. Mol Cell Biol 14:2429-2437.
42. Xu W, Doshi A, Lei M, Eck MJ, Harrison SC. 1999. Crystal structures of c-Src reveal features of its autoinhibitory mechanism. Mol Cell 3:629-638.
43. Young MA, Gonfloni S, Superti-Furga G, Roux B, Kuriyan J. 2001. Dynamic coupling between the SH2 and SH3 domains of c-Src and Hck underlies their inactivation by C-terminal tyrosine phosphorylation. Cell 105:115-126.