Cancer-associated perturbations in alternative pre-messenger RNA splicing

Cancer Treatment and Research

Volumn , Issue , 2013, Pages 41-94

  Shkreta, Lulzim ^a   Bell, Brendan ^a   Revil, Timothée ^a   Venables, Julian P ^b   Prinos, Panagiotis ^c   Elela, Sherif Abou ^c   Chabot, Benoit ^a  

^a UNIVERSITY OF SHERBROOKE   (Canada)

^b INSTITUT DE GÉNOMIQUE FONCTIONNELLE   (France)

^c UNIVERSITÉ DE SHERBROOKE   (Canada)

Author keywords

Anticancer strategies; Apoptosis; Mutations; Oncogene; RNA binding proteins; Splice variants

Indexed keywords

ANTINEOPLASTIC AGENT; MESSENGER RNA; RNA ISOFORM; CASPASE 2; FAS ANTIGEN; FIBROBLAST GROWTH FACTOR RECEPTOR; HERMES ANTIGEN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN A1; MESSENGER RNA PRECURSOR; PEPTIDES AND PROTEINS; PROTEIN BCL X; PROTEIN RON; PROTEIN SAM68; UNCLASSIFIED DRUG; RNA PRECURSOR;

ALTERNATIVE RNA SPLICING; ANGIOGENESIS; APOPTOSIS; ARTICLE; CANCER CELL; CANCER RESISTANCE; CANCER THERAPY; CARCINOGENESIS; CELL INVASION; CELL MIGRATION; CELL PROLIFERATION; CELL STIMULATION; CHROMOSOME TRANSLOCATION; GENE EXPRESSION; GENE MUTATION; GENE OVEREXPRESSION; GENE STRUCTURE; HUMAN; INTRON; MALIGNANT NEOPLASTIC DISEASE; MULTIDRUG RESISTANCE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEOMICS; RNA SYNTHESIS; SIGNAL TRANSDUCTION; SPLICEOSOME; CANCER DIAGNOSIS; CANCER GENETICS; CELL GROWTH; GENE FUNCTION; GENETIC REGULATION; GENETIC VARIABILITY; MOLECULAR INTERACTION; MUTATION; NUCLEAR REPROGRAMMING; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; REVIEW; RNA EDITING; TRANSCRIPTION REGULATION; TUMOR INVASION; ANIMAL; RNA SPLICING;

ALTERNATIVE SPLICING; ANIMALS; HUMANS; MUTATION; PROTEOMICS; RNA PRECURSORS; RNA SPLICING; RNA, MESSENGER;

EID: 84891772237     PISSN: 09273042     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-3-642-31659-3_3     Document Type: Article

References (347)

1. Caceres JF, Kornblihtt AR (2002) Alternative splicing: multiple control mechanisms and involvement in human disease. Trends Genet 18(4):186-1933
2. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3(4):285-2988
3. Pagani F, Baralle FE (2004) Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 5(5):389-3966
4. Brinkman BM (2004) Splice variants as cancer biomarkers. Clin Biochem 37(7):584-5944
5. Venables JP (2006) Unbalanced alternative splicing and its significance in cancer. BioEssays 28(4):378-3866
6. Srebrow A, Kornblihtt AR (2006) The connection between splicing and cancer. J Cell Sci 119(Pt 13):2635-26411
7. Revil T, Shkreta L, Chabot B (2006) Pre-mRNA alternative splicing in cancer: functional impact, molecular mechanisms and therapeutic perspectives. Bull Cancer 93(9):909-9199
8. Venables JP (ed) (2006) Alternative splicing in cancer. Transworld Res Networkk
9. Pajares MJ, Ezponda T, Catena R, Calvo A, Pio R, Montuenga LM (2007) Alternative splicing: an emerging topic in molecular and clinical oncology. Lancet Oncol 8(4):349-3577
10. Skotheim RI, Nees M (2007) Alternative splicing in cancer: noise, functional, or systematic? Int J Biochem Cell Biol 39(7-8):1432-14499
11. Forch P, Valcarcel J (2003) Splicing regulation in Drosophila sex determination. Prog Mol Subcell Biol 31:127-1511
12. Peterson ML (1994) Regulated immunoglobulin (Ig) RNA processing does not require specific cis-acting sequences: non-Ig RNA can be alternatively processed in B cells and plasma cells. Mol Cell Biol 14(12):7891-78988
13. Lou H, Gagel RF (1998) Alternative RNA processing-its role in regulating expression of calcitonin/calcitonin gene-related peptide. J Endocrinol 156(3):401-4055
14. Black DL (1998) Splicing in the inner ear: a familiar tune, but what are the instruments? Neuron 20(2):165-1688
15. Pan Q, Saltzman AL, Kim YK et al (2006) Quantitative microarray profiling provides evidence against widespread coupling of alternative splicing with nonsense-mediated mRNA decay to control gene expression. Genes Dev 20(2):153-1588
16. Wollerton MC, Gooding C, Wagner EJ, Garcia-Blanco MA, Smith CW (2004) Autoregulation of polypyrimidine tract binding protein by alternative splicing leading to nonsense-mediated decay. Mol Cell 13(1):91-1000
17. Ni JZ, Grate L, Donohue JP et al (2007) Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay. Genes Dev 21(6):708-7188
18. Sureau A, Gattoni R, Dooghe Y, Stevenin J, Soret J (2001) SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs. EMBO J 20(7):1785-17966
19. Lareau LF, Inada M, Green RE, Wengrod JC, Brenner SE (2007) Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements. Nature 446(7138):926-9299
20. Tress ML, Martelli PL, Frankish A et al (2007) The implications of alternative splicing in the ENCODE protein complement. Proc Natl Acad Sci U S A 104(13):5495-55000
21. Carstens RP, Eaton JV, Krigman HR, Walther PJ, Garcia-Blanco MA (1997) Alternative splicing of fibroblast growth factor receptor 2 (FGF-R2) in human prostate cancer. Oncogene 15(25):3059-30655
22. Moffa AB, Ethier SP (2007) Differential signal transduction of alternatively spliced FGFR2 variants expressed in human mammary epithelial cells. J Cell Physiol 210(3):720-7311
23. Oltean S, Sorg BS, Albrecht T et al (2006) Alternative inclusion of fibroblast growth factor receptor 2 exon IIIc in dunning prostate tumors reveals unexpected epithelial mesenchymal plasticity. Proc Natl Acad Sci U S A 103(38):14116-141211
24. Bourdon JC, Fernandes K, Murray-Zmijewski F et al (2005) p53 isoforms can regulate p53 transcriptional activity. Genes Dev 19(18):2122-21377
25. Ozaki T, Nakagawara A (2005) p73, a sophisticated p53 family member in the cancer world. Cancer Sci 96(11):729-7377
26. Bartel F, Taubert H, Harris LC (2002) Alternative and aberrant splicing of MDM2 mRNA in human cancer. Cancer Cell 2(1):9-155
27. Fridman JS, Hernando E, Hemann MT, de Stanchina E, Cordon-Cardo C, Lowe SW (2003) Tumor promotion by Mdm2 splice variants unable to bind p53. Cancer Res 63(18):5703-57066
28. Lovecchio M, Maiorano E, Vacca RA et al (2003) beta 1C integrin expression in human endometrial proliferative diseases. Am J Pathol 163(6):2543-25533
29. Hsieh HF, Yu JC, Ho LI, Chiu SC, Harn HJ (1999) Molecular studies into the role of CD44 variants in metastasis in gastric cancer. Mol Pathol 52(1):25-288
30. Wallach SB, Friedmann A, Naor D (2000) The CD44 receptor of the mouse LB T-cell lymphoma: analysis of the isoform repertoire and ligand binding properties by reversetranscriptase polymerase chain reaction and antisense oligonucleotides. Cancer Detect Prev 24(1):33-455
31. Miyake H, Eto H, Arakawa S, Kamidono S, Hara I (2002) Over expression of CD44V8-10 in urinary exfoliated cells as an independent prognostic predictor in patients with urothelial cancer. J Urol 167(3):1282-12877
32. Hashimoto-Uoshima M, Yan YZ, Schneider G, Aukhil I (1997) The alternatively spliced domains EIIIB and EIIIA of human fibronectin affect cell adhesion and spreading. J Cell Sci 110(Pt 18):2271-22800
33. Ghigna C, Giordano S, Shen H et al (2005) Cell motility is controlled by SF2/ASF through alternative splicing of the ron protooncogene. Mol Cell 20(6):881-8900
34. Ladomery MR, Harper SJ, Bates DO (2007) Alternative splicing in angiogenesis: the vascular endothelial growth factor paradigm. Cancer Lett 249(2):133-1422
35. Catena R, Muniz-Medina V, Moralejo B et al (2007) Increased expression of VEGF(121)/ VEGF(165-189) ratio results in a significant enhancement of human prostate tumor angiogenesis. Int J Cancer 120(10):2096-21099
36. Cohen CD, Doran PP, Blattner SM et al (2005) Sam68-like mammalian protein 2, identified by digital differential display as expressed by podocytes, is induced in proteinuria and involved in splice site selection of vascular endothelial growth factor. J Am Soc Nephrol 16(7):1958-19655
37. Chao C, Goluszko E, Lee YT et al (2007) Constitutively active CCK2 receptor splice variant increases src-dependent HIF-1 alpha expression and tumor growth. Oncogene 26(7):1013-10199
38. Koduri S, Goldhar AS, Vonderhaar BK (2006) Activation of vascular endothelial growth factor (VEGF) by the ER-alpha variant, ERDelta3. Breast Cancer Res Treat 95(1):37-433
39. Caldas H, Fangusaro JR, Boue DR, Holloway MP, Altura RA (2007) Dissecting the role of endothelial SURVIVIN deltaEx3 in angiogenesis. Blood 109(4):1479-14899
40. Schwerk C, Schulze-Osthoff K (2005) Regulation of apoptosis by alternative pre-mRNA splicing. Mol Cell 19(1):1-133
41. Minn AJ, Boise LH, Thompson CB (1996) Bcl-x(S) anatagonizes the protective effects of Bcl-x(L). J Biol Chem 271(11):6306-63122
42. Tu Y, Renner S, Xu F et al (1998) BCL-X expression in multiple myeloma: possible indicator of chemoresistance. Cancer Res 58(2):256-2622
43. Takehara T, Liu X, Fujimoto J, Friedman SL, Takahashi H (2001) Expression and role of Bcl-xL in human hepatocellular carcinomas. Hepatology 34(1):55-611
44. Olopade OI, Adeyanju MO, Safa AR et al (1997) Overexpression of BCL-x protein in primary breast cancer is associated with high tumor grade and nodal metastases. Cancer J Sci Am 3(4):230-2377
45. Yang CC, Lin HP, Chen CS, Yang YT, Tseng PH, Rangnekar VM (2003) Bcl-xL mediates a survival mechanism independent of the phosphoinositide 3-kinase/Akt pathway in prostate cancer cells. J Biol Chem 278(28):25872-258788
46. Wincewicz A, Sulkowska M, Koda M, Kanczuga-Koda L, Witkowska E, Sulkowski S (2007) Significant coexpression of GLUT-1, Bcl-xL, and bax in colorectal cancer. Ann N Y Acad Sci 1095:53-611
47. Chang BS, Kelekar A, Harris MH, Harlan JE, Fesik SW, Thompson CB (1999) The BH3 domain of Bcl-x(S) is required for inhibition of the antiapoptotic function of Bcl-x(L). Mol Cell Biol 19(10):6673-66811
48. Dole MG, Jasty R, Cooper MJ, Thompson CB, Nunez G, Castle VP (1995) Bcl-xL is expressed in neuroblastoma cells and modulates chemotherapy-induced apoptosis. Cancer Res 55(12):2576-25822
49. Simonian PL, Grillot DA, Nunez G (1997) Bcl-2 and Bcl-XL can differentially block chemotherapy-induced cell death. Blood 90(3):1208-12166
50. Lebedeva I, Rando R, Ojwang J, Cossum P, Stein CA (2000) Bcl-xL in prostate cancer cells: effects of overexpression and down-regulation on chemosensitivity. Cancer Res 60(21):6052-60600
51. Williams J, Lucas PC, Griffith KA et al (2005) Expression of Bcl-xL in ovarian carcinoma is associated with chemoresistance and recurrent disease. Gynecol Oncol 96(2):287-2955
52. Cho HJ, Kim JK, Kim KD et al (2006) Upregulation of Bcl-2 is associated with cisplatinresistance via inhibition of bax translocation in human bladder cancer cells. Cancer Lett 237(1):56-666
53. Vilenchik M, Raffo AJ, Benimetskaya L, Shames D, Stein CA (2002) Antisense RNA downregulation of bcl-xL expression in prostate cancer cells leads to diminished rates of cellular proliferation and resistance to cytotoxic chemotherapeutic agents. Cancer Res 62(7):2175-21833
54. Zhu H, Guo W, Zhang L et al (2005) Bcl-XL small interfering RNA suppresses the proliferation of 5-fluorouracil-resistant human colon cancer cells. Mol Cancer Ther 4(3):451-4566
55. Konishi T, Sasaki S, Watanabe T, Kitayama J, Nagawa H (2006) Overexpression of hRFI inhibits 5-fluorouracil-induced apoptosis in colorectal cancer cells via activation of NFkappaB and upregulation of BCL-2 and BCL-XL. Oncogene 25(22):3160-31699
56. Wang P, Song JH, Song DK, Zhang J, Hao C (2006) Role of death receptor and mitochondrial pathways in conventional chemotherapy drug induction of apoptosis. Cell Signal 18(9):1528-15355
57. Matsushita K, Tomonaga T, Shimada H et al (2006) An essential role of alternative splicing of c-myc suppressor FUSE-binding protein-interacting repressor in carcinogenesis. Cancer Res 66(3):1409-14177
58. Patel NA, Song SS, Cooper DR (2006) PKCdelta alternatively spliced isoforms modulate cellular apoptosis in retinoic acid-induced differentiation of human NT2 cells and mouse embryonic stem cells. Gene Expr 13(2):73-844
59. He X, Ee PL, Coon JS, Beck WT (2004) Alternative splicing of the multidrug resistance protein 1/ATP binding cassette transporter subfamily gene in ovarian cancer creates functional splice variants and is associated with increased expression of the splicing factors PTB and SRp20. Clin Cancer Res 10(14):4652-46600
60. Lamba JK, Adachi M, Sun D et al (2003) Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons. Hum Mol Genet 12(2):99-1099
61. Chen KG, Szakacs G, Annereau JP et al (2005) Principal expression of two mRNA isoforms (ABCB 5alpha and ABCB 5beta) of the ATP-binding cassette transporter gene ABCB 5 in melanoma cells and melanocytes. Pigment Cell Res 18(2):102-1122
62. Devine SE, Hussain A, Davide JP,Melera PW(1991) Full length and alternatively spliced pgp1 transcripts in multidrug-resistant chinese hamster lung cells. J Biol Chem 266(7):4545-45555
63. Ma JF, Grant G, Staelens B, Howard DL, Melera PW (1999) In vitro translation of a 2.3-kb splicing variant of the hamster pgp1 gene whose presence in transfectants is associated with decreased drug resistance. Cancer Chemother Pharmacol 43(1):19-288
64. Nakanishi T, Shiozawa K, Hassel BA, Ross DD (2006) Complex interaction of BCRP/ ABCG2 and imatinib in BCR-ABL-expressing cells: BCRP-mediated resistance to imatinib is attenuated by imatinib-induced reduction of BCRP expression. Blood 108(2):678-6844
65. Muller M, Schleithoff ES, Stremmel W, Melino G, Krammer PH, Schilling T (2006) One, two, three-p53, p63, p73 and chemosensitivity. Drug Resist Updat 9(6):288-3066
66. Yin F, Du Y, Hu W et al (2006) Mad2beta, an alternative variant of Mad2 reducing mitotic arrest and apoptosis induced by adriamycin in gastric cancer cells. Life Sci 78(12):1277-12866
67. Efimova EV, Al-Zoubi AM, Martinez O et al (2004) IG20, in contrast to DENN-SV, (MADD splice variants) suppresses tumor cell survival, and enhances their susceptibility to apoptosis and cancer drugs. Oncogene 23(5):1076-10877
68. Black DL (2003) Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem 72:291-3366
69. Blanchette M, Chabot B (1997) A highly stable duplex structure sequesters the 50 splice site region of hnRNP A1 alternative exon 7B. RNA 3(4):405-4199
70. BlanchetteM,ChabotB(1999)Modulation of exon skipping by high-affinity hnRNPA1-binding sites and by intron elements that repress splice site utilization. EMBO J 18(7):1939-19522
71. Nasim FU, Hutchison S, Cordeau M, Chabot B (2002) High-affinity hnRNP A1 binding sites and duplex-forming inverted repeats have similar effects on 50 splice site selection in support of a common looping out and repression mechanism. RNA 8(8):1078-10899
72. Martinez-Contreras R, Fisette JF, Nasim FU, Madden R, Cordeau M, Chabot B (2006) Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing. PLoS Biol 4(2):e211
73. Wagner EJ, Garcia-Blanco MA (2001) Polypyrimidine tract binding protein antagonizes exon definition. Mol Cell Biol 21(10):3281-32888
74. Amir-Ahmady B, Boutz PL, Markovtsov V, Phillips ML, Black DL (2005) Exon repression by polypyrimidine tract binding protein. RNA 11(5):699-7166
75. Ule J, Stefani G, Mele A et al (2006) An RNA map predicting Nova-dependent splicing regulation. Nature 444(7119):580-5866
76. Domsic JK, Wang Y, Mayeda A, Krainer AR, StoltzfusCM(2003) Human immunodeficiency virus type 1 hnRNP A/B-dependent exonic splicing silencer ESSV antagonizes binding of U2AF65 to viral polypyrimidine tracts. Mol Cell Biol 23(23):8762-87722
77. Zhu J, Mayeda A, Krainer AR (2001) Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins. Mol Cell 8(6):1351-13611
78. Soret J, Gabut M, Tazi J (2006) SR proteins as potential targets for therapy. Prog Mol Subcell Biol 44:65-877
79. Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90(1-2):41-544
80. Lopez-Bigas N, Blencowe BJ, Ouzounis CA (2006) Highly consistent patterns for inherited human diseases at the molecular level. Bioinformatics 22(3):269-2777
81. Disset A, Bourgeois CF, Benmalek N, Claustres M, Stevenin J, Tuffery-Giraud S (2006) An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements. Hum Mol Genet 15(6):999-10133
82. SerraE,Ars E,RavellaAet al (2001) SomaticNF1mutational spectrumin benign neurofibromas: mRNA splice defects are common among point mutations. Hum Genet 108(5):416-4299
83. Baser ME, Kuramoto L, Woods R et al (2005) The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. J Med Genet 42(7):540-5466
84. Holmila R, Fouquet C, Cadranel J, Zalcman G, Soussi T (2003) Splice mutations in the p53 gene: case report and review of the literature. Hum Mutat 21(1):101-1022
85. Neklason DW, Solomon CH, Dalton AL, Kuwada SK, Burt RW (2004) Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype. Fam Cancer 3(1):35-400
86. Liu HX, Cartegni L, Zhang MQ, Krainer AR (2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nat Genet 27(1):55-588
87. Yang Y, Swaminathan S, Martin BK, Sharan SK (2003) Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model. Hum Mol Genet 12(17):2121-21311
88. Narla G, DiFeo A, Yao S et al (2005) Targeted inhibition of the KLF6 splice variant, KLF6 SV1, suppresses prostate cancer cell growth and spread. Cancer Res 65(13):5761-57688
89. Wang XQ, Luk JM, Leung PP, Wong BW, Stanbridge EJ, Fan ST (2005) Alternative mRNA splicing of liver intestine-cadherin in hepatocellular carcinoma. Clin Cancer Res 11(2 Pt 1):483-4899
90. Venesio T, Balsamo A, Sfiligoi C et al (2007) Constitutional high expression of an APC mRNA isoform in a subset of attenuated familial adenomatous polyposis patients. J Mol Med 85(3):301-3088
91. Zhuo D, Madden R, Elela SA, Chabot B (2007) Modern origin of numerous alternatively spliced human introns from tandem arrays. Proc Natl Acad Sci U S A 104(3):882-8866
92. HallierM, Lerga A, Barnache S, Tavitian A,Moreau-Gachelin F (1998) The transcription factor Spi-1/PU.1 interacts with the potential splicing factor TLS. J Biol Chem 273(9):4838-48422
93. Knoop LL, Baker SJ (2000) The splicing factor U1C represses EWS/FLI-mediated transactivation. J Biol Chem 275(32):24865-248711
94. Yang L, Embree LJ, Hickstein DD (2000) TLS-ERG leukemia fusion protein inhibits RNA splicing mediated by serine-arginine proteins. Mol Cell Biol 20(10):3345-33544
95. Chansky HA, Hu M, Hickstein DD, Yang L (2001) Oncogenic TLS/ERG and EWS/Fli-1 fusion proteins inhibit RNA splicing mediated by YB-1 protein. Cancer Res 61(9):3586-35900
96. Janknecht R (2005) EWS-ETS oncoproteins: the linchpins of Ewing tumors. Gene 363:1-144
97. Knoop LL, Baker SJ (2001) EWS/FLI alters 50-splice site selection. J Biol Chem 276(25):22317-223222
98. Yang L, Chansky HA, Hickstein DD (2000) EWS. Fli-1 fusion protein interacts with hyperphosphorylated RNA polymerase II and interferes with serine-arginine proteinmediated RNA splicing. J Biol Chem 275(48):37612-376188
99. Ohkura N, Yaguchi H, Tsukada T, Yamaguchi K (2002) The EWS/NOR1 fusion gene product gains a novel activity affecting pre-mRNA splicing. J Biol Chem 277(1):535-5433
100. Salesse S, Dylla SJ, Verfaillie CM (2004) p210BCR/ABL-induced alteration of pre-mRNA splicing in primary human CD34 ? hematopoietic progenitor cells. Leukemia 18(4):727-7333
101. Chabot B, Frappier D, La Branche H (1992) Differential ASF/SF2 activity in extracts from normal WI38 and transformed WI38VA13 cells. Nucleic Acids Res 20(19):5197-52044
102. Lavigueur A, La Branche H, Kornblihtt AR, Chabot B (1993) A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding. Genes Dev 7((12A)):2405-24177
103. Ghigna C, Moroni M, Porta C, Riva S, Biamonti G (1998) Altered expression of heterogenous nuclear ribonucleoproteins and SR factors in human colon adenocarcinomas. Cancer Res 58(24):5818-58244
104. Pino I,PioR,ToledoGet al (2003)Altered patterns of expression ofmembers of the heterogeneous nuclear ribonucleoprotein (hnRNP) family in lung cancer. Lung Cancer 41(2):131-1433
105. Karni R, de Stanchina E, Lowe SW, Sinha R, Mu D, Krainer AR (2007) The gene encoding the splicing factor SF2/ASF is a proto-oncogene. Nat Struct Mol Biol 14(3):185-1933
106. Li X,Wang J,Manley JL (2005)Loss of splicing factorASF/SF2 inducesG2cell cycle arrest and apoptosis, but inhibits internucleosomal DNA fragmentation. Genes Dev 19(22):2705-27144
107. Chalfant CE, Ogretmen B, Galadari S, Kroesen BJ, Pettus BJ, Hannun YA (2001) FAS activation induces dephosphorylation of SR proteins; dependence on the de novo generation of ceramide and activation of protein phosphatase 1. J Biol Chem 276(48):44848-448555
108. He X, Pool M, Darcy KM et al (2007) Knockdown of polypyrimidine tract-binding protein suppresses ovarian tumor cell growth and invasiveness in vitro. Oncogene 26(34):4961-49688
109. Perry WL 3rd, Shepard RL, Sampath J et al (2005) Human splicing factor SPF45 (RBM17) confers broad multidrug resistance to anticancer drugs when overexpressed-a phenotype partially reversed by selective estrogen receptor modulators. Cancer Res 65(15):6593-66000
110. Shitashige M, Naishiro Y, Idogawa M et al (2007) Involvement of splicing factor-1 in betacatenin/ T-cell factor-4-mediated gene transactivation and pre-mRNA splicing. Gastroenterology 132(3):1039-10544
111. Ding WQ, Kuntz SM, Miller LJ (2002) A misspliced form of the cholecystokinin-B/gastrin receptor in pancreatic carcinoma: role of reduced sellular U2AF35 and a suboptimal 30- splicing site leading to retention of the fourth intron. Cancer Res 62(3):947-9522
112. Sergeant KA, Bourgeois CF, Dalgliesh C, Venables JP, Stevenin J, Elliott DJ (2007) Alternative RNA splicing complexes containing the scaffold attachment factor SAFB2. J Cell Sci 120(Pt 2):309-3199
113. Le Guiner C, Plet A, Galiana D, Gesnel MC, Del Gatto-Konczak F, Breathnach R (2001) Polypyrimidine tract-binding protein represses splicing of a fibroblast growth factor receptor-2 gene alternative exon through exon sequences. J Biol Chem 276(47):43677-436877
114. Baraniak AP, Chen JR, Garcia-Blanco MA (2006) Fox-2 mediates epithelial cell-specific fibroblast growth factor receptor 2 exon choice. Mol Cell Biol 26(4):1209-12222
115. Jin W, McCutcheon IE, Fuller GN, Huang ES, Cote GJ (2000) Fibroblast growth factor receptor-1 alpha-exon exclusion and polypyrimidine tract-binding protein in glioblastoma multiforme tumors. Cancer Res 60(5):1221-12244
116. Stickeler E, Kittrell F, Medina D, Berget SM (1999) Stage-specific changes in SR splicing factors and alternative splicing in mammary tumorigenesis. Oncogene 18(24):3574-35822
117. Fischer DC, Noack K, Runnebaum IB et al (2004) Expression of splicing factors in human ovarian cancer. Oncol Rep 11(5):1085-10900
118. Galiana-Arnoux D, Lejeune F, Gesnel MC, Stevenin J, Breathnach R, Del Gatto-Konczak F (2003) The CD44 alternative v9 exon contains a splicing enhancer responsive to the SR proteins 9G8, ASF/SF2, and SRp20. J Biol Chem 278(35):32943-329533
119. Matter N, Herrlich P, Konig H (2002) Signal-dependent regulation of splicing via phosphorylation of Sam68. Nature 420(6916):691-6955
120. Matter N, Marx M, Weg-Remers S, Ponta H, Herrlich P, Konig H (2000) Heterogeneous ribonucleoprotein A1 is part of an exon-specific splice-silencing complex controlled by oncogenic signaling pathways. J Biol Chem 275(45):35353-353600
121. Venables JP, Dalgliesh C, Paronetto MP et al (2004) SIAH1 targets the alternative splicing factor T-STAR for degradation by the proteasome. Hum Mol Genet 13(14):1525-15344
122. Cheng C, Sharp PA (2006) Regulation of CD44 alternative splicing by SRm160 and its potential role in tumor cell invasion. Mol Cell Biol 26(1):362-3700
123. Watermann DO, Tang Y, Zur Hausen A, Jager M, Stamm S, Stickeler E (2006) Splicing factor Tra2-beta1 is specifically induced in breast cancer and regulates alternative splicing of the CD44 gene. Cancer Res 66(9):4774-47800
124. Batsche E, Yaniv M, Muchardt C (2006) The human SWI/SNF subunit Brm is a regulator of alternative splicing. Nat Struct Mol Biol 13(1):22-299
125. Zhou YQ, He C, Chen YQ, Wang D, Wang MH (2003) Altered expression of the RON receptor tyrosine kinase in primary human colorectal adenocarcinomas: generation of different splicing RON variants and their oncogenic potential. Oncogene 22(2):186-1977
126. Forch P, Puig O, Martinez C, Seraphin B, Valcarcel J (2002) The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 50 splice sites. EMBO J 21(24):6882-68922
127. Izquierdo JM, Majos N, Bonnal S et al (2005) Regulation of Fas alternative splicing by antagonistic effects of TIA-1 and PTB on exon definition. Mol Cell 19(4):475-4844
128. Li CY, Chu JY, Yu JK et al (2004) Regulation of alternative splicing of Bcl-x by IL-6 GMCSF and TPA. Cell Res 14(6):473-4799
129. Massiello A, Salas A, Pinkerman RL, Roddy P, Roesser JR, Chalfant CE (2004) Identification of two RNA cis-elements that function to regulate the 50 splice site selection of Bcl-x pre-mRNA in response to ceramide. J Biol Chem 279(16):15799-158044
130. Paronetto MP, Achsel T, Massiello A, Chalfant CE, Sette C (2007) The RNA-binding protein Sam68 modulates the alternative splicing of Bcl-x. J Cell Biol 176(7):929-9399
131. Garneau D, Revil T, Fisette JF, Chabot B (2005) Heterogeneous nuclear ribonucleoprotein F/H proteins modulate the alternative splicing of the apoptotic mediator Bcl-x. J Biol Chem 280(24):22641-226500
132. Cloutier P, Toutant J, Shkreta L, Goekjian S, Revil T, Chabot B (2008) Antagonistic effects of the SRp30c protein and cryptic 50 splice sites on the alternative splicing of the apoptotic regulator Bcl-x. J Biol Chem 283(31):21315-213244
133. Revil T, Toutant J, Shkreta L, Garneau D, Cloutier P, Chabot B (2007) Protein kinase Cdependent control of Bcl-x alternative splicing. Mol Cell Biol 27(24):8431-84411
134. Shkreta L, Froehlich U, Paquet ER, Toutant J, Elela SA, Chabot B (2008) Anticancer drugs affect the alternative splicing of Bcl-x and other human apoptotic genes. Mol Cancer Ther 7(6):1398-14099
135. Wu JY, Tang H, Havlioglu N (2003) Alternative pre-mRNA splicing and regulation of programmed cell death. Prog Mol Subcell Biol 31:153-1855
136. Jiang ZH, Zhang WJ, Rao Y, Wu JY (1998) Regulation of Ich-1 pre-mRNA alternative splicing and apoptosis by mammalian splicing factors. Proc Natl Acad Sci U S A 95(16):9155-91600
137. Cote J, Dupuis S, Jiang Z, Wu JY (2001) Caspase-2 pre-mRNA alternative splicing: Identification of an intronic element containing a decoy 30 acceptor site. Proc Natl Acad Sci U S A 98(3):938-9433
138. Faustino NA, Cooper TA (2003) Pre-mRNA splicing and human disease. Genes Dev 17(4):419-4377
139. Ho TH, Charlet BN, Poulos MG, Singh G, Swanson MS, Cooper TA (2004) Muscleblind proteins regulate alternative splicing. EMBO J 23(15):3103-31122
140. Auboeuf D, Batsche E, Dutertre M, Muchardt C, O'Malley BW (2007) Coregulators: transducing signal from transcription to alternative splicing. Trends Endocrinol Metab 18(3):122-1299
141. Kornblihtt AR (2005) Promoter usage and alternative splicing. Curr Opin Cell Biol 17(3):262-2688
142. Cramer P, PesceCG, Baralle FE,KornblihttAR(1997) Functional association between promoter structure and transcript alternative splicing. Proc Natl Acad Sci U S A 94(21):11456-114600
143. Gendra E, ColganDF,Meany B,KonarskaMM(2007)Asequencemotif in the SV40 early core promoter affects alternative splicing of transcribed mRNA. J Biol Chem 282(16):11648-116577
144. Auboeuf D, Dowhan DH, Li X et al (2004) CoAA, a nuclear receptor coactivator protein at the interface of transcriptional coactivation and RNA splicing. Mol Cell Biol 24(1):442-4533
145. Guillouf C, Gallais I, Moreau-Gachelin F (2006) Spi-1/PU.1 oncoprotein affects splicing decisions in a promoter binding-dependent manner. J Biol Chem 281(28):19145-191555
146. de la Mata M, Kornblihtt AR (2006) RNA polymerase II C-terminal domain mediates regulation of alternative splicing by SRp20. Nat Struct Mol Biol 13(11):973-9800
147. de la Mata M, Alonso CR, Kadener S et al (2003) A slow RNA polymerase II affects alternative splicing in vivo. Mol Cell 12(2):525-5322
148. Nogues G, Kadener S, Cramer P et al (2003) Control of alternative pre-mRNA splicing by RNA Pol II elongation: faster is not always better. IUBMB Life 55(4-5):235-2411
149. Pecci A, Viegas LR, Baranao JL, Beato M (2001) Promoter choice influences alternative splicing and determines the balance of isoforms expressed from the mouse bcl-X gene. J Biol Chem 276(24):21062-210699
150. Logette E, Wotawa A, Solier S, Desoche L, Solary E, Corcos L (2003) The human caspase- 2 gene: alternative promoters, pre-mRNA splicing and AUG usage direct isoform-specific expression. Oncogene 22(6):935-9466
151. Landry JR, Mager DL, Wilhelm BT (2003) Complex controls: the role of alternative promoters in mammalian genomes. Trends Genet 19(11):640-6488
152. Kimura K, Wakamatsu A, Suzuki Y et al (2006) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Genome Res 16(1):55-655
153. Bass BL (2002) RNA editing by adenosine deaminases that act on RNA. Annu Rev Biochem 71:817-8466
154. Beghini A, Ripamonti CB, Peterlongo P et al (2000) RNA hyperediting and alternative splicing of hematopoietic cell phosphatase (PTPN6) gene in acute myeloid leukemia. Hum Mol Genet 9(15):2297-23044
155. Maas S, Patt S, Schrey M, Rich A (2001) Underediting of glutamate receptor GluR-B mRNA in malignant gliomas. Proc Natl Acad Sci U S A 98(25):14687-146922
156. Weischenfeldt J, Lykke-Andersen J, Porse B (2005) Messenger RNA surveillance: neutralizing natural nonsense. Curr Biol 15(14):R559-R5622
157. Rossi MR, Hawthorn L, Platt J, Burkhardt T, Cowell JK, Ionov Y (2005) Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis. Cancer Genet Cytogenet 161(2):97-1033
158. Ware MD, DeSilva D, Sinilnikova OM, Stoppa-Lyonnet D, Tavtigian SV, Mazoyer S (2006) Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene 25(2):323-3288
159. Green RE, Lewis BP, Hillman RT et al (2003) Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes. Bioinformatics 19(Suppl 1):i118-i1211
160. El-Bchiri J, Buhard O, Penard-Lacronique V, Thomas G, Hamelin R, Duval A (2005) Differential nonsense mediated decay of mutated mRNAs in mismatch repair deficient colorectal cancers. Hum Mol Genet 14(16):2435-24422
161. DeRosaM,MorelliG,CesaroEet al (2007) Alternative splicing and nonsense-mediatedmRNA decay in the regulation of a new adenomatous polyposis coli transcript. Gene 395(1-2):8-144
162. Tarn WY (2007) Cellular signals modulate alternative splicing. J Biomed Sci 14(4):517-5222
163. Blaustein M, Pelisch F, Srebrow A (2007) Signals, pathways and splicing regulation. Int J Biochem Cell Biol 39(11):2031-20488
164. Ding JH, Zhong XY, Hagopian JC et al (2006) Regulated cellular partitioning of SR protein-specific kinases in mammalian cells. Mol Biol Cell 17(2):876-8855
165. Xie J, Lee JA, Kress TL, Mowry KL, Black DL (2003) Protein kinase A phosphorylation modulates transport of the polypyrimidine tract-binding protein. Proc Natl Acad Sci U S A 100(15):8776-87811
166. Allemand E, Guil S, Myers M, Moscat J, Caceres JF, Krainer AR (2005) Regulation of heterogenous nuclear ribonucleoprotein A1 transport by phosphorylation in cells stressed by osmotic shock. Proc Natl Acad Sci U S A 102(10):3605-36100
167. Hall MP, Huang S, Black DL (2004) Differentiation-induced colocalization of the KH-type splicing regulatory protein with polypyrimidine tract binding protein and the c-src premRNA. Mol Biol Cell 15(2):774-7866
168. Scheid MP, Woodgett JR (2001) PKB/AKT: functional insights from genetic models. Nat Rev Mol Cell Biol 2(10):760-7688
169. Blaustein M, Pelisch F, Coso OA, Bissell MJ, Kornblihtt AR, Srebrow A (2004) Mammary epithelial-mesenchymal interaction regulates fibronectin alternative splicing via phosphatidylinositol 3-kinase. J Biol Chem 279(20):21029-210377
170. Patel NA, Kaneko S, Apostolatos HS et al (2005) Molecular and genetic studies imply Aktmediated signaling promotes protein kinase CbetaII alternative splicing via phosphorylation of serine/arginine-rich splicing factor SRp40. J Biol Chem 280(14):14302-143099
171. Konig H, Ponta H, Herrlich P (1998) Coupling of signal transduction to alternative premRNA splicing by a composite splice regulator. EMBO J 17(10):2904-29133
172. Cheng C, Yaffe MB, Sharp PA (2006) A positive feedback loop couples Ras activation and CD44 alternative splicing. Genes Dev 20(13):1715-17200
173. HayesGM, Carrigan PE, Beck AM,Miller LJ (2006) Targeting theRNAsplicing machinery as a novel treatment strategy for pancreatic carcinoma. Cancer Res 66(7):3819-38277
174. Hayes GM, Carrigan PE, Miller LJ (2007) Serine-arginine protein kinase 1 overexpression is associated with tumorigenic imbalance in mitogen-activated protein kinase pathways in breast, colonic, and pancreatic carcinomas. Cancer Res 67(5):2072-20800
175. Bellavia D, Mecarozzi M, Campese AF et al (2007) Notch3 and the Notch3-upregulated RNA-binding protein HuD regulate Ikaros alternative splicing. EMBO J 26(6):1670-16800
176. Shin C, Manley JL (2004) Cell signalling and the control of pre-mRNA splicing. Nat Rev Mol Cell Biol 5(9):727-7388
177. Blaustein M, Pelisch F, Tanos T et al (2005) Concerted regulation of nuclear and cytoplasmic activities of SR proteins by AKT. Nat Struct Mol Biol 12(12):1037-10444
178. Chen HH, Wang YC, Fann MJ (2006) Identification and characterization of the CDK12/cyclin L1 complex involved in alternative splicing regulation. Mol Cell Biol 26(7):2736-27455
179. Shen EC, Henry MF, Weiss VH, Valentini SR, Silver PA, Lee MS (1998) Arginine methylation facilitates the nuclear export of hnRNP proteins. Genes Dev 12(5):679-6911
180. Yu MC, Bachand F, McBride AE, Komili S, Casolari JM, Silver PA (2004) Arginine methyltransferase affects interactions and recruitment of mRNA processing and export factors. Genes Dev 18(16):2024-20355
181. Ohkura N, Takahashi M, Yaguchi H, Nagamura Y, Tsukada T (2005) Coactivatorassociated arginine methyltransferase 1, CARM1, affects pre-mRNA splicing in an isoformspecific manner. J Biol Chem 280(32):28927-289355
182. Hui L, Zhang X, Wu X et al (2004) Identification of alternatively spliced mRNA variants related to cancers by genome-wide ESTs alignment. Oncogene 23(17):3013-30233
183. Xu Q, Lee C (2003) Discovery of novel splice forms and functional analysis of cancer-specific alternative splicing in human expressed sequences. Nucleic Acids Res 31(19):5635-56433
184. Pan Q, Shai O, Misquitta C et al (2004) Revealing global regulatory features of mammalian alternative splicing using a quantitative microarray platform. Mol Cell 16(6):929-9411
185. Zhang C, Li HR, Fan JB et al (2006) Profiling alternatively spliced mRNA isoforms for prostate cancer classification. BMC Bioinformatics 7:2022
186. Watahiki A, Waki K, Hayatsu N et al (2004) Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Nat Methods 1(3):233-2399
187. Relogio A, Ben-Dov C, Baum M et al (2005) Alternative splicing microarrays reveal functional expression of neuron-specific regulators in Hodgkin lymphoma cells. J Biol Chem 280(6):4779-47844
188. Li C, Kato M, Shiue L, Shively JE, Ares M Jr, Lin RJ (2006) Cell type and culture condition-dependent alternative splicing in human breast cancer cells revealed by splicingsensitive microarrays. Cancer Res 66(4):1990-19999
189. Yeakley JM, Fan JB, Doucet D et al (2002) Profiling alternative splicing on fiber-optic arrays. Nat Biotechnol 20(4):353-3588
190. Li HR, Wang-Rodriguez J, Nair TM et al (2006) Two-dimensional transcriptome profiling: identification of messenger RNA isoform signatures in prostate cancer from archived paraffin-embedded cancer specimens. Cancer Res 66(8):4079-40888
191. Johnson JM, Castle J, Garrett-Engele P et al (2003) Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science 302(5653):2141-21444
192. Gardina PJ, Clark TA, Shimada B et al (2006) Alternative splicing and differential gene expression in colon cancer detected by a whole genome exon array. BMC Genomics 7:3255
193. Margulies M, Egholm M, Altman WE et al (2005) Genome sequencing in microfabricated high-density picolitre reactors. Nature 437(7057):376-3800
194. Fededa JP, Petrillo E, Gelfand MS et al (2005) A polar mechanism coordinates different regions of alternative splicing within a single gene. Mol Cell 19(3):393-4044
195. Celotto AM, Graveley BR (2002) Exon-specific RNAi: a tool for dissecting the functional relevance of alternative splicing. RNA 8(6):718-7244
196. Morris KV, Chan SW, Jacobsen SE, Looney DJ (2004) Small interfering RNA-induced transcriptional gene silencing in human cells. Science 305(5688):1289-12922
197. Kim DH, Villeneuve LM, Morris KV, Rossi JJ (2006) Argonaute-1 directs siRNA-mediated transcriptional gene silencing in human cells. Nat Struct Mol Biol 13(9):793-7977
198. Goyenvalle A, Vulin A, Fougerousse F et al (2004) Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science 306(5702):1796-17999
199. Mercatante DR, Bortner CD, Cidlowski JA, Kole R (2001) Modification of alternative splicing of Bcl-x pre-mRNA in prostate and breast cancer cells. Analysis of apoptosis and cell death. J Biol Chem 276(19):16411-164177
200. Mercatante DR, Mohler JL, Kole R (2002) Cellular response to an antisense-mediated shift of Bcl-x pre-mRNA splicing and antineoplastic agents. J Biol Chem 277(51):49374-493822
201. Giles RV, Spiller DG, Clark RE, Tidd DM (1999) Antisense morpholino oligonucleotide analog induces missplicing of C-myc mRNA. Antisense Nucleic Acid Drug Dev 9(2):213-2200
202. Bruno IG, Jin W, Cote GJ (2004) Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements. Hum Mol Genet 13(20):2409-24200
203. Taylor JK, Zhang QQ, Wyatt JR, Dean NM (1999) Induction of endogenous Bcl-xS through the control of Bcl-x pre-mRNA splicing by antisense oligonucleotides. Nat Biotechnol 17(11):1097-11000
204. Singh NK, Singh NN, Androphy EJ, Singh RN (2006) Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol 26(4):1333-13466
205. Villemaire J, Dion I, Elela SA, Chabot B (2003) Reprogramming alternative pre-messenger RNA splicing through the use of protein-binding antisense oligonucleotides. J Biol Chem 278(50):50031-500399
206. Gendron D, Carriero S, Garneau D et al (2006) Modulation of 50 splice site selection using tailed oligonucleotides carrying splicing signals. BMC Biotechnol 6:55
207. Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F (2003) Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci U S A 100(7):4114-41199
208. Cartegni L, Krainer AR (2003) Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol 10(2):120-1255
209. Wilusz JE, Devanney SC, Caputi M (2005) Chimeric peptide nucleic acid compounds modulate splicing of the bcl-x gene in vitro and in vivo. Nucleic Acids Res 33(20):6547-65544
210. Kishore S, Stamm S (2006) The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science 311(5758):230-2322
211. Bland CS, Cooper TA (2007) Micromanaging alternative splicing during muscle differentiation. Dev Cell 12(2):171-1722
212. Boutz PL, Chawla G, Stoilov P, Black DL (2007) MicroRNAs regulate the expression of the alternative splicing factor nPTB during muscle development. Genes Dev 21(1):71-844
213. Calin GA, Croce CM (2006) MicroRNA-cancer connection: the beginning of a new tale. Cancer Res 66(15):7390-73944
214. Muraki M, Ohkawara B, Hosoya T et al (2004) Manipulation of alternative splicing by a newly developed inhibitor of Clks. J Biol Chem 279(23):24246-242544
215. Pilch B, Allemand E, Facompre M et al (2001) Specific inhibition of serine- and argininerich splicing factors phosphorylation, spliceosome assembly, and splicing by the antitumor drug NB-506. Cancer Res 61(18):6876-68844
216. Soret J, Bakkour N, Maire S et al (2005) Selective modification of alternative splicing by indole derivatives that target serine-arginine-rich protein splicing factors. Proc Natl Acad Sci U S A 102(24):8764-87699
217. Wang Z, Hoffmann HM, Grabowski PJ (1995) Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity. RNA 1(1):21-355
218. Kanopka A, Muhlemann O, Akusjarvi G (1996) Inhibition by SR proteins of splicing of a regulated adenovirus pre-mRNA. Nature 381(6582):535-5388
219. Caputi M, Zahler AM (2002) SR proteins and hnRNP H regulate the splicing of the HIV-1 tev-specific exon 6D. EMBO J 21(4):845-8555
220. Vickers SM, Huang ZQ, MacMillan-Crow L, Greendorfer JS, Thompson JA (2002) Ligand activation of alternatively spliced fibroblast growth factor receptor-1 modulates pancreatic adenocarcinoma cell malignancy. J Gastrointest Surg 6(4):546-5533
221. Jang JH (2005) Reciprocal relationship in gene expression between FGFR1 and FGFR3: implication for tumorigenesis. Oncogene 24(5):945-9488
222. Kornmann M, Ishiwata T, Matsuda K et al (2002) IIIc isoform of fibroblast growth factor receptor 1 is overexpressed in human pancreatic cancer and enhances tumorigenicity of hamster ductal cells. Gastroenterology 123(1):301-3133
223. Sturla LM, Merrick AE, Burchill SA (2003) FGFR3IIIS: a novel soluble FGFR3 spliced variant that modulates growth is frequently expressed in tumour cells. Br J Cancer 89(7):1276-12844
224. Jang JH, Shin KH, Park YJ, Lee RJ, McKeehan WL, Park JG (2000) Novel transcripts of fibroblast growth factor receptor 3 reveal aberrant splicing and activation of cryptic splice sequences in colorectal cancer. Cancer Res 60(15):4049-40522
225. Takaishi S, Sawada M, Morita Y, Seno H, Fukuzawa H, Chiba T (2000) Identification of a novel alternative splicing of human FGF receptor 4: soluble-form splice variant expressed in human gastrointestinal epithelial cells. Biochem Biophys Res Commun 267(2):658-6622
226. Leong CO, Vidnovic N, DeYoung MP, Sgroi D, Ellisen LW (2007) The p63/p73 network mediates chemosensitivity to cisplatin in a biologically defined subset of primary breast cancers. J Clin Invest 117(5):1370-13800
227. Nyman U, Sobczak-Pluta A, Vlachos P, Perlmann T, Zhivotovsky B, Joseph B (2005) Fulllength p73alpha represses drug-induced apoptosis in small cell lung carcinoma cells. J Biol Chem 280(40):34159-341699
228. Watson IR, BlanchA, LinDC,Ohh M, IrwinMS (2006)Mdm2- mediatedNEDD8modification of TAp73 regulates its transactivation function. J Biol Chem 281(45):34096-341033
229. Steinman HA, Burstein E, Lengner C et al (2004) An alternative splice form of Mdm2 induces p53-independent cell growth and tumorigenesis. J Biol Chem 279(6):4877-48866
230. Chandler DS, Singh RK, Caldwell LC, Bitler JL, Lozano G (2006) Genotoxic stress Induces coordinately regulated alternative splicing of the p53 modulators MDM2 and MDM4. Cancer Res 66(19):9502-95088
231. Bartel F, Schulz J, Bohnke A et al (2005) Significance of HDMX-S (or MDM4) mRNA splice variant overexpression and HDMX gene amplification on primary soft tissue sarcoma prognosis. Int J Cancer 117(3):469-4755
232. Giglio S, Mancini F, Gentiletti F et al (2005) Identification of an aberrantly spliced form of HDMX in human tumors: a new mechanism for HDM2 stabilization. Cancer Res 65(21):9687-96944
233. Agrawal S, Eng C (2006) Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer. Hum Mol Genet 15(5):777-7877
234. Colgin LM, Wilkinson C, Englezou A, Kilian A, Robinson MO, Reddel RR (2000) The hTERTalpha splice variant is a dominant negative inhibitor of telomerase activity. Neoplasia 2(5):426-4322
235. Burd CJ, Petre CE, Morey LM et al (2006) Cyclin D1b variant influences prostate cancer growth through aberrant androgen receptor regulation. Proc Natl Acad Sci U S A 103(7):2190-21955
236. Knudsen KE, Diehl JA, Haiman CA, Knudsen ES (2006) Cyclin D1: polymorphism, aberrant splicing and cancer risk. Oncogene 25(11):1620-16288
237. Leung YK, Lau KM, Mobley J, Jiang Z, Ho SM (2005) Overexpression of cytochrome P450 1A1 and its novel spliced variant in ovarian cancer cells: alternative subcellular enzyme compartmentation may contribute to carcinogenesis. Cancer Res 65(9):3726-37344
238. Yu Y, Jiang X, Schoch BS, Carroll RS, Black PM, Johnson MD (2007) Aberrant splicing of cyclin-dependent kinase-associated protein phosphatase KAP increases proliferation and migration in glioblastoma. Cancer Res 67(1):130-1388
239. Di Modugno F, DeMonte L, BalsamoMet al (2007) Molecular cloning of hMena (ENAH) and its splice varianthMena +11a: epidermal growth factor increases their expression and stimulates hMena +11a phosphorylation in breast cancer cell lines. Cancer Res 67(6):2657-26655
240. Carson DJ, Santoro IM, Groden J (2004) Isoforms of the APC tumor suppressor and their ability to inhibit cell growth and tumorigenicity. Oncogene 23(42):7144-71488
241. Kawasaki Y, Sato R, Akiyama T (2003) Mutated APC and Asef are involved in the migration of colorectal tumour cells. Nat Cell Biol 5(3):211-2155
242. Cooper DL, Dougherty GJ (1995) To metastasize or not? Selection of CD44 splice sites. Nat Med 1(7):635-6377
243. Scotlandi K, Zuntini M, Manara MC, et al. (2007) CD99 isoforms dictate opposite functions in tumour malignancy and metastases by activating or repressing c-Src kinase activity. Oncogene 26(46):6604-66188
244. Byun HJ, Hong IK, Kim E et al (2006) A splice variant of CD99 increases motility and MMP-9 expression of human breast cancer cells through the AKT-, ERK-, and JNKdependent AP-1 activation signaling pathways. J Biol Chem 281(46):34833-348477
245. Oyama F, Hirohashi S, Sakamoto M, Titani K, Sekiguchi K (1993) Coordinate oncodevelopmental modulation of alternative splicing of fibronectin pre-messenger RNA at ED-A, ED-B, and CS1 regions in human liver tumors. Cancer Res 53(9):2005-20111
246. Khan ZA, Chan BM, Uniyal S et al (2005) EDB fibronectin and angiogenesis: a novel mechanistic pathway. Angiogenesis 8(3):183-1966
247. Wang L, Lin SH, Wu WG et al (2000) C-CAM1, a candidate tumor suppressor gene, is abnormally expressed in primary lung cancers. Clin Cancer Res 6(8):2988-29933
248. Luo W, Wood CG, Earley K, Hung MC, Lin SH (1997) Suppression of tumorigenicity of breast cancer cells by an epithelial cell adhesion molecule (C-CAM1): the adhesion and growth suppression are mediated by different domains. Oncogene 14(14):1697-17044
249. DiFeo A, Narla G, Hirshfeld J et al (2006) Roles of KLF6 and KLF6-SV1 in ovarian cancer progression and intraperitoneal dissemination. Clin Cancer Res 12(12):3730-37399
250. Camacho-Vanegas O, Narla G, Teixeira MS, et al. (2007) Functional inactivation of the KLF6 tumor suppressor gene by loss of heterozygosity and increased alternative splicing in glioblastoma. Int J Cancer 121(6):1390-13955
251. Esufali S, Charames GS, Pethe VV, Buongiorno P, Bapat B (2007) Activation of tumorspecific splice variant Rac1b by dishevelled promotes canonical Wnt signaling and decreased adhesion of colorectal cancer cells. Cancer Res 67(6):2469-24799
252. Matos P, Jordan P (2006) Rac1, but not Rac1B, stimulates RelB-mediated gene transcription in colorectal cancer cells. J Biol Chem 281(19):13724-137322
253. Takafuji V, Forgues M, Unsworth E, Goldsmith P, Wang XW (2007) An osteopontin fragment is essential for tumor cell invasion in hepatocellular carcinoma. Oncogene 26(44):6361-63711
254. Aigner A, Juhl H, Malerczyk C, Tkybusch A, Benz CC, Czubayko F (2001) Expression of a truncated 100 kDa HER2 splice variant acts as an endogenous inhibitor of tumour cell proliferation. Oncogene 20(17):2101-21111
255. Woolard J, Wang WY, Bevan HS et al (2004) VEGF165b, an inhibitory vascular endothelial growth factor splice variant: mechanism of action, in vivo effect on angiogenesis and endogenous protein expression. Cancer Res 64(21):7822-78355
256. Lokeshwar VB, Estrella V, Lopez L et al (2006) HYAL1-v1, an alternatively spliced variant of HYAL1 hyaluronidase: a negative regulator of bladder cancer.Cancer Res 66(23):11219-112277
257. van Nimwegen MJ, Verkoeijen S, van Buren L, Burg D, van de Water B (2005) Requirement for focal adhesion kinase in the early phase of mammary adenocarcinoma lung metastasis formation. Cancer Res 65(11):4698-47066
258. Song SW, Fuller GN, Zheng H, Zhang W (2005) Inactivation of the invasion inhibitory gene IIp45 by alternative splicing in gliomas. Cancer Res 65(9):3562-35677
259. Luther T, Kotzsch M, Meye A et al (2003) Identification of a novel urokinase receptor splice variant and its prognostic relevance in breast cancer. Thromb Haemost 89(4):705-7177
260. Midis GP, Shen Y, Owen-Schaub LB (1996) Elevated soluble Fas (sFas) levels in nonhematopoietic human malignancy. Cancer Res 56(17):3870-38744
261. Ugurel S, Rappl G, Tilgen W, Reinhold U (2001) Increased soluble CD95 (sFas/CD95) serum level correlates with poor prognosis in melanoma patients. Clin Cancer Res 7(5):1282-12866
262. Ueno T, Toi M, Tominaga T (1999) Circulating soluble Fas concentration in breast cancer patients. Clin Cancer Res 5(11):3529-35333
263. Nonomura N, Nishimura K, Ono Y et al (2000) Soluble Fas in serum from patients with renal cell carcinoma. Urology 55(1):151-1555
264. Benedict MA, Hu Y, Inohara N, Nunez G (2000) Expression and functional analysis of Apaf-1 isoforms. Extra Wd-40 repeat is required for cytochrome c binding and regulated activation of procaspase-9. J Biol Chem 275(12):8461-84688
265. Ogawa T, Shiga K, Hashimoto S, Kobayashi T, Horii A, Furukawa T (2003) APAF-1-ALT, a novel alternative splicing form of APAF-1, potentially causes impeded ability of undergoing DNA damage-induced apoptosis in the LNCaP human prostate cancer cell line. Biochem Biophys Res Commun 306(2):537-5433
266. Li F (2005) Role of survivin and its splice variants in tumorigenesis. Br J Cancer 92(2):212-2166
267. Krieg A, Mahotka C, Krieg T et al (2002) Expression of different survivin variants in gastric carcinomas: first clues to a role of survivin-2B in tumour progression. Br J Cancer 86(5):737-7433
268. Vegran F, Boidot R, Oudin C, Riedinger JM, Lizard-Nacol S (2005) Distinct expression of Survivin splice variants in breast carcinomas. Int J Oncol 27(4):1151-11577
269. Tsujimoto Y, Croce CM (1986) Analysis of the structure, transcripts, and protein products of bcl-2, the gene involved in human follicular lymphoma. Proc Natl Acad Sci U S A 83(14):5214-52188
270. Tanaka S, Saito K, Reed JC (1993) Structure-function analysis of the Bcl-2 oncoprotein. Addition of a heterologous transmembrane domain to portions of the Bcl-2 beta protein restores function as a regulator of cell survival. J Biol Chem 268(15):10920-109266
271. Boise LH, Gonzalez-Garcia M, Postema CE et al (1993) bcl-x, a bcl-2-related gene that functions as a dominant regulator of apoptotic cell death. Cell 74(4):597-6088
272. Marone M, Scambia G, Mozzetti S et al (1998) bcl-2, bax, bcl-XL, and bcl-XS expression in normal and neoplastic ovarian tissues. Clin Cancer Res 4(2):517-5244
273. Wu J, Shao ZM, Shen ZZ et al (2000) Significance of apoptosis and apoptotic-related proteins, Bcl-2, and Bax in primary breast cancer. Breast J 6(1):44-522
274. Schmitt E, Paquet C, Beauchemin M, Dever-Bertrand J, Bertrand R (2000) Characterization of Bax-sigma, a cell death-inducing isoform of Bax. Biochem Biophys Res Commun 270(3):868-8799
275. Shi B, Triebe D, Kajiji S, Iwata KK, Bruskin A, Mahajna J (1999) Identification and characterization of baxepsilon, a novel bax variant missing the BH2 and the transmembrane domains. Biochem Biophys Res Commun 254(3):779-7855
276. Chang DW, Xing Z, Pan Y et al (2002) c-FLIP(L) is a dual function regulator for caspase-8 activation and CD95-mediated apoptosis. EMBO J 21(14):3704-37144
277. Longley DB, Wilson TR, McEwan M et al (2006) c-FLIP inhibits chemotherapy-induced colorectal cancer cell death. Oncogene 25(6):838-8488
278. Mulherkar N, Ramaswamy M, Mordi DC, Prabhakar BS (2006) MADD/DENN splice variant of the IG20 gene is necessary and sufficient for cancer cell survival. Oncogene 25(47):6252-62611
279. Bae J, Leo CP, Hsu SY, Hsueh AJ (2000) MCL-1S, a splicing variant of the antiapoptotic BCL-2 family member MCL-1, encodes a proapoptotic protein possessing only the BH3 domain. J Biol Chem 275(33):25255-252611
280. Liu JW, Chandra D, Tang SH, Chopra D, Tang DG (2002) Identification and characterization of Bimgamma, a novel proapoptotic BH3-only splice variant of Bim. Cancer Res 62(10):2976-29811
281. Yamaguchi T, Okada T, Takeuchi K et al (2003) Enhancement of thymidine kinasemediated killing of malignant glioma by BimS, a BH3-only cell death activator. Gene Ther 10(5):375-3855
282. Abrams MT, Robertson NM, Yoon K, Wickstrom E (2004) Inhibition of glucocorticoidinduced apoptosis by targeting the major splice variants of BIM mRNA with small interfering RNA and short hairpin RNA. J Biol Chem 279(53):55809-558177
283. Wang L, Miura M, Bergeron L, Zhu H, Yuan J (1994) Ich-1, an Ice/ced-3-related gene, encodes both positive and negative regulators of programmed cell death. Cell 78(5):739-7500
284. Droin N, Beauchemin M, Solary E, Bertrand R (2000) Identification of a caspase-2 isoform that behaves as an endogenous inhibitor of the caspase cascade. Cancer Res 60(24):7039-70477
285. Vegran F,Boidot R,OudinC,RiedingerJM,Bonnetain F,Lizard-Nacol S (2006)Overexpression of caspase-3 s splice variant in locally advanced breast carcinoma is associated with poor response to neoadjuvant chemotherapy. Clin Cancer Res 12(19):5794-58000
286. Muzio M, Chinnaiyan AM, Kischkel FC et al (1996) FLICE, a novel FADD-homologous ICE/CED-3-like protease, is recruited to the CD95 (Fas/APO-1) death-inducing signaling complex. Cell 85(6):817-8277
287. Himeji D, Horiuchi T, Tsukamoto H, Hayashi K, Watanabe T, Harada M (2002) Characterization of caspase-8L: a novel isoform of caspase-8 that behaves as an inhibitor of the caspase cascade. Blood 99(11):4070-40788
288. Waltereit R, WellerM(2002) The role of caspases 9 and 9-short (9S) in death ligand- and druginduced apoptosis in human astrocytoma cells. Brain Res Mol Brain Res 106(1-2):42-499
289. Lee SB, Haber DA (2001) Wilms tumor and the WT1 gene. Exp Cell Res 264(1):74-999
290. Richard DJ, Schumacher V, Royer-Pokora B, Roberts SG (2001) Par4 is a coactivator for a splice isoform-specific transcriptional activation domain in WT1. Genes Dev 15(3):328-3399
291. Tojo Y, Bandoh S, Fujita J et al (2003) Aberrant messenger RNA splicing of the cytokeratin 8 in lung cancer. Lung Cancer 42(2):153-1611
292. Yin F, Hu WH, Qiao TD, Fan DM (2004) Multidrug resistant effect of alternative splicing form of MAD2 gene-MAD2beta on human gastric cancer cell. Zhonghua Zhong Liu Za Zhi 26(4):201-2044
293. Lixia M, Zhijian C, Chao S, Chaojiang G, Congyi Z (2007) Alternative splicing of breast cancer associated gene BRCA1 from breast cancer cell line. J Biochem Mol Biol 40(1):15-211
294. Orban TI, Olah E (2003) Emerging roles of BRCA1 alternative splicing. Mol Pathol 56(4):191-1977
295. Bieche I, Lidereau R (1999) Increased level of exon 12 alternatively spliced BRCA2 transcripts in tumor breast tissue compared with normal tissue. Cancer Res 59(11):2546-25500
296. Khan SG, Muniz-Medina V, Shahlavi T et al (2002) The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res 30(16):3624-36311
297. Shiote Y, Ouchida M, Jitsumori Y et al (2006) Multiple splicing variants of Naf1/ABIN-1 transcripts and their alterations in hematopoietic tumors. Int J Mol Med 18(5):917-9233
298. Lee EJ, Jo M, Park J, Zhang W, Lee JH (2006) Alternative splicing variants of IRF-1 lacking exons 7, 8, and 9 in cervical cancer. Biochem Biophys Res Commun 347(4):882-8888
299. Hube F, Guo J, Chooniedass-Kothari S et al (2006) Alternative splicing of the first intron of the steroid receptor RNA activator (SRA) participates in the generation of coding and noncoding RNA isoforms in breast cancer cell lines. DNA Cell Biol 25(7):418-4288
300. Wang L, Duke L, Zhang PS et al (2003) Alternative splicing disrupts a nuclear localization signal in spleen tyrosine kinase that is required for invasion suppression in breast cancer. Cancer Res 63(15):4724-47300
301. Katoh M, Kirikoshi H, Terasaki H, Shiokawa K (2001) WNT2B2 mRNA, up-regulated in primary gastric cancer, is a positive regulator of the WNT- beta-catenin-TCF signaling pathway. Biochem Biophys Res Commun 289(5):1093-10988
302. Lee JH, Gao CF, Lee CC, Kim MD (2006) Vande Woude GF. An alternatively spliced form of Met receptor is tumorigenic. Exp Mol Med 38(5):565-5733
303. Treeck O, Pfeiler G, Horn F et al (2007) Novel estrogen receptor beta transcript variants identified in human breast cancer cells affect cell growth and apoptosis of COS-1 cells. Mol Cell Endocrinol 264(1-2):50-600
304. Pind MT, Watson PH (2003) SR protein expression and CD44 splicing pattern in human breast tumours. Breast Cancer Res Treat 79(1):75-822
305. Patry C, Bouchard L, Labrecque P et al (2003) Small interfering RNA-mediated reduction in heterogeneous nuclear ribonucleoparticule A1/A2 proteins induces apoptosis in human cancer cells but not in normal mortal cell lines. Cancer Res 63(22):7679-76888
306. Zhou J, Nong L, Wloch M, Cantor A, Mulshine JL, Tockman MS (2001) Expression of early lung cancer detection marker: hnRNP-A2/B1 and its relation to microsatellite alteration in non-small cell lung cancer. Lung Cancer 34(3):341-3500
307. Zech VF, Dlaska M, Tzankov A, Hilbe W (2006) Prognostic and diagnostic relevance of hnRNP A2/B1, hnRNP B1 and S100 A2 in non-small cell lung cancer. Cancer Detect Prev 30(5):395-4022
308. Hiraki A, Murakami T, Aoe K et al (2006) Heterogeneous nuclear ribonucleoprotein B1 expression in malignant mesothelioma. Cancer Sci 97(11):1175-11811
309. Brose MS, Volpe P, Paul K et al (2004) Characterization of two novel BRCA1 germ-line mutations involving splice donor sites. Genet Test 8(2):133-1388
310. Chen X, Truong TT, Weaver J et al (2006) Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression. Hum Mutat 27(5):427-4355
311. Bonatti F, Pepe C, Tancredi M et al (2006) RNA-based analysis of BRCA1 and BRCA2 gene alterations. Cancer Genet Cytogenet 170(2):93-1011
312. Humar B, Toro T, Graziano F et al (2002) Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. Hum Mutat 19(5):518-5255
313. Loo JC, Liu L, Hao A et al (2003) Germline splicing mutations of CDKN2A predispose to melanoma. Oncogene 22(41):6387-63944
314. Wolf M, Hemminki A, Kivioja A et al (1998) A novel splice site mutation of the EXT2 gene in a finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online. Hum Mutat 12(5):3622
315. Tamary H, Dgany O, Toledano H et al (2004) Molecular characterization of three novel Fanconi anemia mutations in Israeli Arabs. Eur J Haematol 72(5):330-3355
316. Hastings ML, Resta N, Traum D, Stella A, Guanti G, Krainer AR (2005) An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites. Nat Struct Mol Biol 12(1):54-599
317. Turner JJ, Leotlela PD, Pannett AA et al (2002) Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 87(6):2688-26933
318. Baehring J, Sutter C, Kadmon M, Doeberitz MV, Gebert J (2006) A 'nonsense' mutation leads to aberrant splicing of hMLH1 in a German hereditary non-polyposis colorectal cancer family. Fam Cancer 5(2):195-1999
319. Nemoto H, Tate G, Schirinzi A et al (2006) Novel NF1 gene mutation in a Japanese patient with neurofibromatosis type 1 and a gastrointestinal stromal tumor. J Gastroenterol 41(4):378-3822
320. Reifenberger J, Rauch L, Beckmann MW, Megahed M, Ruzicka T, Reifenberger G (2003) Cowden's disease: clinical and molecular genetic findings in a patient with a novel PTEN germline mutation. Br J Dermatol 148(5):1040-10466
321. Niemann S, Muller U, Engelhardt D, Lohse P (2003) Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. Hum Genet 113(1):92-944
322. Martella M, Salviati L, Casarin A et al (2006) Molecular analysis of two uncharacterized sequence variants of the VHL gene. J Hum Genet 51(11):964-9688
323. Abu-Amero KK, Owaidah TM, Al Jefri A, Al-Ghonaium A, Fawaz IM, Al-Hamed MH (2004) A novel splice site mutation in the WAS gene causes Wiskott-Aldrich syndrome in two siblings of a Saudi family. Blood Coagul Fibrinolysis 15(7):599-6033
324. Tanioka M, Budiyant A, Ueda T et al (2005) A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A. J Invest Dermatol 125(2):244-2466
325. Spirio L, Green J, Robertson J et al (1999) The identical 50 splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect. Hum Genet 105(5):388-3988
326. Chen LL, Sabripour M, Wu EF, Prieto VG, Fuller GN, Frazier ML (2005) A mutationcreated novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors. Oncogene 24(26):4271-42800
327. Tala HP, Carvajal CA, Gonzalez AA et al (2006) New splicing mutation of MEN1 gene affecting the translocation of menin to the nucleus. J Endocrinol Invest 29(10):888-8933
328. Martinez R, Schackert HK, von Kannen S, Lichter P, Joos S, Schackert G (2003) Independent molecular development of metachronous glioblastomas with extended intervening recurrence-free interval. Brain Pathol 13(4):598-6077
329. Ariga T, Yamada M, Pudua FR, Sakiyama Y (1996) Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome. Biochim Biophys Acta 1317(3):158-1600
330. Kanemoto K, Ishikura K, Ariyasu D et al (2007) WT1 intron 9 splice acceptor site mutation in a 46, XY male with focal segmental glomerulosclerosis. Pediatr Nephrol 22(3):454-4588
331. Aceto G, Cristina Curia M, Veschi S et al (2005) Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. Hum Mutat 26(4):3944
332. Rutter JL, Goldstein AM, Davila MR, Tucker MA, Struewing JP (2003) CDKN2A point mutations D153spl(c.457G[T) and IVS2 ? 1G[T result in aberrant splice products affecting both p16INK4a and p14ARF. Oncogene 22(28):4444-44488
333. Pagenstecher C, Wehner M, Friedl W et al (2006) Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. Hum Genet 119(1-2):9-222
334. Raponi M, Upadhyaya M, Baralle D (2006) Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization. Hum Mutat 27(3):294-2955
335. Trojan J, Plotz G, Brieger A et al (2001) Activation of a cryptic splice site of PTEN and loss of heterozygosity in benign skin lesions in Cowden disease. J Invest Dermatol 117(6):1650-16533
336. Andreu N, Carreras C, Prieto F, Estivill X, Volpini V, Fillat C (2003) Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome. J Hum Genet 48(11):590-5933
337. Heikkinen K, Mansikka V, Karppinen SM, Rapakko K, Winqvist R (2005) Mutation analysis of the ATR gene in breast and ovarian cancer families. Breast Cancer Res 7(4):R495-R5011
338. Mazoyer S, Puget N, Perrin-Vidoz L, Lynch HT, Serova-Sinilnikova OM, Lenoir GM (1998) A BRCA1 nonsense mutation causes exon skipping. Am J Hum Genet 62(3):713-7155
339. Fackenthal JD, Cartegni L, Krainer AR, Olopade OI (2002) BRCA2 T2722R is a deleterious allele that causes exon skipping. Am J Hum Genet 71(3):625-6311
340. McVety S, Li L, Gordon PH, Chong G, Foulkes WD (2006) Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family. J Med Genet 43(2):153-1566
341. Baralle M, Skoko N, Knezevich A et al (2006) NF1 mRNA biogenesis: effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. FEBS Lett 580(18):4449-44566
342. Bottillo I, De Luca A, Schirinzi A et al (2007) Functional analysis of splicing mutations in exon 7 of NF1 gene. BMC Med Genet 8:44
343. Suphapeetiporn K, Kongkam P, Tantivatana J, Sinthuwiwat T, Tongkobpetch S, Shotelersuk V (2006) PTEN c.511C[T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping. Jpn J Clin Oncol 36(12):814-8211
344. Gorlov IP, Gorlova OY, Frazier ML, Amos CI (2004) Missense mutations in cancer suppressor gene TP53 are colocalized with exonic splicing enhancers
345. Narla G, Difeo A, Reeves HL et al (2005) A germline DNA polymorphism enhances alternative splicing of the KLF6 tumor suppressor gene and is associated with increased prostate cancer risk. Cancer Res 65(4):1213-12222
346. Khan SG, Metin A, Gozukara E et al (2004) Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk. Hum Mol Genet 13(3):343-3522
347. De Klein A, Riegman PH, Bijlsma EK et al (1998) A G-[A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2. Hum Mol Genet 7(3):393-3988