Identification and characterization of multiple isoforms of a murine and human tumor suppressor, patched, having distinct first exons

Genomics

Volumn 85, Issue 4, 2005, Pages 462-471

  Nagao, Kazuaki ^a   Toyoda, Masashi ^a   Takeuchi Inoue, Kaori ^a   Fujii, Katsunori ^b   Yamada, Masao ^a   Miyashita, Toshiyuki ^a  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b CHIBA UNIVERSITY   (Japan)

Author keywords

Alternative splicing; Basal cell carcinoma; Medulloblastoma; Patched; Sonic hedgehog

Indexed keywords

MEMBRANE PROTEIN; MESSENGER RNA; PROTEIN PATCHED; TRANSCRIPTION FACTOR GLI1; TUMOR SUPPRESSOR PROTEIN;

APOPTOSIS; ARTICLE; BINDING AFFINITY; CELL GROWTH; EMBRYO; EMBRYO DEVELOPMENT; EXON; GENE FUNCTION; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; MEDULLOBLASTOMA; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; REGULATORY MECHANISM; TUMOR GROWTH;

EID: 15244362560     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ygeno.2004.11.014     Document Type: Article

References (47)

1. E. Belloni Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly Nat. Genet. 14 1996 353 356
2. E. Roessler Mutations in the human Sonic hedgehog gene cause holoprosencephaly Nat. Genet. 14 1996 357 360
3. C. Chiang Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function Nature 383 1996 407 431
4. H. Hahn Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome Cell 85 1996 841 851
5. R.L. Johnson Human homolog of patched, a candidate gene for the basal cell nevus syndrome Science 272 1996 1668 1671
6. A.B. Unden Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation Cancer Res. 56 1996 4562 4565
7. C. Raffel Sporadic medulloblastomas contain PTCH mutations Cancer Res. 57 1997 842 845
8. T. Pietsch Medulloblastomas of the desmoplastic variant carry mutations of the human homologue of Drosophila patched Cancer Res. 57 1997 2085 2088
9. R.J. Gorlin Nevoid basal-cell carcinoma syndrome Medicine 66 1987 98 113
10. M.R. Gailani The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas Nat. Genet. 14 1996 78 81
11. J. Xie Activating Smoothened mutations in sporadic basal-cell carcinoma Nature 391 1998 90 92
12. S.P. Thayer Hedgehog is an early and late mediator of pancreatic cancer tumorigenesis Nature 425 2003 851 856
13. D.M. Berman Widespread requirement for Hedgehog ligand stimulation in growth of digestive tract tumours Nature 425 2003 846 851
14. D.N. Watkins Hedgehog signalling within airway epithelial progenitors and in small-cell lung cancer Nature 422 2003 313 317
15. P.W. Ingham, and A.P. McMahon Hedgehog signaling in animal development: paradigms and principles Genes Dev. 15 2001 3059 3087
16. D.M. Berman Medulloblastoma growth inhibition by hedgehog pathway blockade Science 297 2002 1559 1561
17. P. Kogerman Alternative first exons of PTCH1 are differentially regulated in vivo and may confer different functions to the PTCH1 protein Oncogene 21 2002 6007 6016
18. L.V. Goodrich, R.L. Johnson, L. Milenkovic, J.A. McMahon, and M.P. Scott Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by Hedgehog Genes Dev. 10 1996 301 312
19. Q. Wu, and A.R. Krainer AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes Mol. Cell Biol. 19 1999 3225 3236
20. H. Hahn A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities J. Biol. Chem. 271 1996 12125 12128
21. K.W. Kinzler, and B. Vogelstein The GLI gene encodes a nuclear protein which binds specific sequences in the human genome Mol. Cell Biol. 10 1990 634 642
22. C. Alexandre, A. Jacinto, and P.W. Ingham Transcriptional activation of hedgehog target genes in Drosophila is mediated directly by the cubitus interruptus protein, a member of the GLI family of zinc finger DNA-binding proteins Genes Dev. 10 1996 2003 2013
23. M. Ågren, P. Kogerman, M.I. Kleman, M. Wessling, and R. Toftgård Expression of the PTCH1 tumor suppressor gene is regulated by alternative promoters and a single functional Gli-binding site Gene 330 2004 101 114
24. E.A. Barnes, M. Kong, V. Ollendorff, and D.J. Donoghue Patched1 interacts with cyclin B1 to regulate cell cycle progression EMBO J. 20 2001 2214 2223
25. C. Thibert Inhibition of neuroepithelial patched-induced apoptosis by sonic hedgehog Science 301 2003 843 846
26. J.K. Chen, J. Taipale, M.K. Cooper, and P.A. Beachy Inhibition of Hedgehog signaling by direct binding of cyclopamine to Smoothened Genes Dev. 16 2002 2743 2748
27. E.C. Bailey, L. Milenkovic, M.P. Scott, J.F. Collawn, and R.L. Johnson Several PATCHED1 missense mutations display activity in patched1-deficient fibroblasts J. Biol. Chem. 277 2002 33632 33640
28. V. Marigo, R.A. Davey, Y. Zuo, J.M. Cunningham, and C.J. Tabin Biochemical evidence that patched is the Hedgehog receptor Nature 384 1996 176 179
29. Z. Kan, E.C. Rouchka, W.R. Gish, and D.J. States Gene structure prediction and alternative splicing analysis using genomically aligned ESTs Genome Res. 11 2001 889 900
30. P.D. Stenson Human Gene Mutation Database (HGMD): 2003 update Hum. Mutat. 21 2003 577 581
31. J.J. Fuentes, M.A. Pritchard, and X. Estivill Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene Genomics 44 1997 358 361
32. Y. Wang RNA diversity has profound effects on the translation of neuronal nitric oxide synthase Proc. Natl. Acad. Sci. U.S.A. 96 1999 12150 12155
33. H. Sasaki, C. Hui, M. Nakafuku, and H. Kondoh A binding site for Gli proteins is essential for HNF-3β floor plate enhancer activity in transgenics and can respond to Shh in vitro Development 124 1997 1313 1322
34. K. Fujii Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients Hum. Mutat. 21 2003 451 452
35. A. Chidambaram Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients Cancer Res. 56 1996 4599 4601
36. C. Wicking Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident Am. J. Hum. Genet. 60 1997 21 26
37. I. Smyth Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32 Hum. Mol. Genet. 8 1999 291 297
38. P.G. Zaphiropoulos, A.B. Undén, F. Rahnama, R.E. Hollingsworth, and R. Toftgård PTCH2, a novel human patched gene, undergoing alternative splicing and up-regulated in basal cell carcinomas Cancer Res. 59 1999 787 792
39. J. Lesley, and R. Hyan CD44 structure and function Front. Biosci. 3 1998 D616 D630
40. J. Zhu, J. Shendure, R.D. Mitra, and G.M. Church Single molecule profiling of alternative pre-mRNA splicing Science 301 2003 836 838
41. J.M. Johnson Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays Science 302 2003 2141 2144
42. Y. Imai, Y. Matsushima, T. Sugimura, and M. Terada A simple and rapid method for generating a deletion by PCR Nucleic Acids Res. 19 1991 2785
43. H.L. Park Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation Development 127 2000 1593 1605
44. T. Miyashita, Y. Okamura-Oho, Y. Mito, S. Nagafuchi, and M. Yamada Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis J. Biol. Chem. 272 1997 29238 29242
45. P. Dai Sonic Hedgehog-induced activation of the Gli1 promoter is mediated by GLI3 J. Biol. Chem. 274 1999 8143 8152
46. K. Fujii γ-Irradiation deregulates cell cycle control and apoptosis in nevoid basal cell carcinoma syndrome-derived cells Jpn. J. Cancer Res. 90 1999 1351 1357
47. B.C. Schaefer Revolutions in rapid amplification of cDNA ends: new strategies for polymerase chain reaction cloning of full-length cDNA ends Anal. Biochem. 227 1995 255 273