A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors

Oncogene

Volumn 24, Issue 26, 2005, Pages 4271-4280

  Chen, Lei L ^a   Sabripour, Mahyar ^a   Wu, Elsie F ^a   Prieto, Victor G ^a   Fuller, Gregory N ^a   Frazier, Marsha L ^a,b  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^b UNIVERSITY OF TEXAS   (United States)

Author keywords

Aberrant pre mRNA splicing; Gastrointestinal stromal tumor; Intra exonic pre mRNA splicing; KIT; KIT mutation

Indexed keywords

LYSINE; MESSENGER RNA PRECURSOR; ONCOPROTEIN; STEM CELL FACTOR RECEPTOR;

ALLELE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; GASTROINTESTINAL STROMAL TUMOR; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; INTRON; MOLECULAR INTERACTION; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN MOTIF; RNA SPLICING; SEQUENCE ANALYSIS; ALTERNATIVE RNA SPLICING; BIOSYNTHESIS; FRAMESHIFT MUTATION; GASTROINTESTINAL TUMOR; GENE EXPRESSION REGULATION; GENETICS; MOLECULAR GENETICS; PATHOLOGY; STROMA CELL;

ALTERNATIVE SPLICING; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; GASTROINTESTINAL NEOPLASMS; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MOLECULAR SEQUENCE DATA; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-KIT; RNA SPLICE SITES; STROMAL CELLS;

EID: 20544458054     PISSN: 09509232     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.onc.1208587     Document Type: Article

References (43)

1. Allander SV, Nupponen NN, Ringner M, Hostetter G, Maher GW, Goldberger N, Chen Y, Carpten J, Elkahloun AG and Meltzer PS. (2001). Cancer Res., 61, 8624-8628.
2. Aznarez I, Chan EM, Zielenski J, Blencowe BJ and Tsui LC. (2003). Hum. Mol. Genet., 12, 2031-2040.
3. Black DL. (2003). Annu. Rev. Biochem., 72, 291-336.
4. Buratti E, Baralle FE and Pagani F. (2003). Trends Mol. Med., 9, 229-232.
5. Cartegni L, Chew SL and Krainer AR. (2002). Nat. Rev. Genet., 3, 285-298.
6. Cartegni L, Wang J, Zhu Z, Zhang MQ and Krainer AR. (2003). Nucleic Acids Res., 31, 3568-3571.
7. Chan PM, Ilangumaran S, La Rose J, Chakrabartty A and Rottapel R. (2003). Mol. Cell Biol., 23, 3067-3078.
8. Chen LL, Trent JC, Wu EF, Fuller GN, Ramdas L, Zhang W, Raymond AK, Prieto VG, Oyedeji CO, Hunt KK, Pollock RE, Feig BW, Hayes KJ, Choi H, Macapinlac HA, Hittelman W, Velasco MA, Patel S, Burgess MA, Benjamin RS and Frazier ML. (2004). Cancer Res., 64, 5913-5919.
9. Colapietro P, Gervasini C, Natacci F, Rossi L, Riva P and Larizza L. (2003). Hum. Genet., 113, 551-554.
10. Corless CL, McGreevey L, Town A, Schroeder A, Bainbridge T, Harrell P, Fletcher JA and Heinrich MC. (2004). J. Molec. Diagn., 6, 366-370.
11. Crosier PS, Ricciardi ST, Hall LR, Vitas MR, Clark SC and Crosier KE. (1993). Blood, 82, 1151-1158.
12. Di Blasi C, He Y, Morandi L, Cornelio F, Guicheney P and Mora M. (2001). Brain, 124, 698-704.
13. Goldstrohm A, Greenleaf A and Garcia-Blanco M. (2001). Gene, 277, 31-47.
14. Gorlov IP, Gorlova OY, Frazier ML and Amos CI. (2003). Am. J. Hum. Genet., 73, 1157-1161.
15. Graveley B. (2002). Cell, 109, 409-412.
16. Guex N and Peitsch MC. (1997). Electrophoresis, 18, 2714-2723.
17. Hammes A, Guo JK, Lutsch G, Leheste JR, Landrock D, Ziegler U, Gubler MC and Schedl A. (2001). Cell, 106, 319-329.
18. Harland M, Mistry S and Bishop DT. (2001). Hum. Mol. Genet., 10, 2679-2686.
19. Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H, McGreevey LS, Chen CJ, van den Abbeele AD, Druker BJ, Kiese B, Eisenberg B, Roberts PJ, Singer S, Fletcher CD, Silberman S, Dimitrijevic S and Fletcher JA. (2003a). J. Clin. Oncol., 21, 4342-4349.
20. Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CD and Fletcher JA. (2003b). Science, 299, 708-710.
21. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y and Kitamura Y. (1998). Science, 279, 577-580.
22. Hirota S, Ohashi A, Nishida T, Isozaki K, Kinoshita K, Shinomura Y and Kitamura Y. (2003). Gastroenterology, 125, 660-667.
23. Isozaki K, Terris B, Belghiti J, Schiffmann S, Hirota S and Vanderwinden JM. (2000). Am. J. Pathol, 157, 1581-1585.
24. Jurica MS and Moore MJ. (2003). Mol. Cell, 12, 5-14.
25. Kinoshita K, Isozaki K, Hirota S, Nishida T, Chen H, Nakahara M, Nagasawa Y, Ohashi A, Shinomura Y, Kitamura Y and Matsuzawa Y. (2003). J. Gastroenterol. Hepatol., 18, 147-151.
26. Koh JS, Trent J, Chen L, El-Naggar A, Hunt K, Pollock R and Zhang W. (2004). Histol. Histopathol., 19, 565-574.
27. Ladd AN. (2002). Genome Biol., 3, reviews 0008.1-0008.16.
28. Liu HX, Cartegni L, Zhang MQ and Krainer AR. (2001). Nat. Genet., 27, 55-58.
29. Ma Y, Cunningham ME, Wang X, Ghosh I, Regan L and Longley BJ. (1999). J. Biol. Chem., 274, 13399-13402.
30. Modrek B and Lee C. (2002). Nat. Genet., 30, 13-19.
31. Mol CD, Dougan DR, Schneider TR, Skene RJ, Kraus ML, Scheibe DN, Snell GP, Zou H, Sang BC and Wilson KP. (2004). J. Biol. Chem., 279, 31655-31663.
32. Namour F, Helfer AC, Quadros EV, Alberto JM, Bibi HM, Orning L, Rosenblatt DS and Jean-Louis G. (2003). Br. J. Haematol., 123, 915-920.
33. Nelson KK and Green MR. (1990). Proc. Natl. Acad. Sci. USA, 87, 6253-6257.
34. Pagani F, Buratti E, Stuani C, Bendix R, Dork T and Baralle FE. (2002). Nat. Genet., 30, 426-429.
35. Pagani F and Baralle FE. (2004). Nat. Rev. Genet., 5, 389-396.
36. Roca X, Sachidanandam R and Krainer AR. (2003). Nucleic Acids Res., 31, 6321-6333.
37. Sandberg AA and Bridge JA. (2002). Cancer Genet. Cytogenet., 135, 1-22.
38. Smith C and Valcarcel J. (2000). Trends Biochem. Sci., 25, 381-388.
39. Sommer G, Agosti V, Ehlers I, Rossi F, Corbacioglu S, Farkas J, Moore M, Manova K, Antonescu CR and Besmer P. (2003). Proc. Natl. Acad. Sci. USA, 100, 6706-6711.
40. Syrris P, Heathcote K, Carrozzo R, Devriendt K, Elcioglu N, Garrett C, McEntagart M and Carter ND. (2002). Hum. Mutat., 20, 234-237.
41. Taniguchi M, Nishida T, Hirota S, Isozaki K, Ito T, Nomura T, Matsuda H and Kitamura Y. (1999). Cancer Re., 59, 4297-4300.
42. Wagner EJ and Garcia-Blanco MA. (2001). Mol. Cell Biol., 21, 3281-3288.
43. Zhu WM, Dong WF and Minden M. (1994). Leuk. Lymphoma, 12, 441-447.