Hedgehog signaling pathway and human disorders

No To Hattatsu

Volumn 41, Issue 4, 2009, Pages 247-252

  Fujii, Katsunori ^a   Miyashita, Toshiyuki ^b  

^a CHIBA UNIVERSITY   (Japan)

^b KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PATCHED; SMOOTHENED PROTEIN; SONIC HEDGEHOG PROTEIN;

BASAL CELL CARCINOMA; BASAL CELL NEVUS SYNDROME; EMBRYO DEVELOPMENT; GENE MUTATION; HOLOPROSENCEPHALY; HUMAN; MEDULLOBLASTOMA; NONHUMAN; PALLISTER HALL SYNDROME; PROTEIN FUNCTION; REVIEW; RUBINSTEIN SYNDROME;

ANIMALS; CONGENITAL ABNORMALITIES; HEDGEHOG PROTEINS; HUMANS; NEOPLASMS; SIGNAL TRANSDUCTION;

EID: 68149163933     PISSN: 00290831     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (61)

1. Dean M. Polarity, proliferation and the hedgehog pathway. Nat Genet 1996;14:245-247
2. Riddle RD, Johnson RL, Laufer E, Tabin C. Sonic hedgehog mediates the polarizing activity of the ZPA. Cell 1993;75:1401-1416 (Pubitemid 24021914)
3. Cohen B. Nobel committee rewards pioneers of development studies in fruitflies. Nature 1995;377:465.
4. Lewis EB. A gene complex controlling segmentation in Drosophila. Nature 1978;276:565-570
5. Nüsslein-Volhard C, Wieschaus E. Mutations affecting segment number and polarity in Drosophila. Nature 1980;287:795-801. (Pubitemid 11214475)
6. Scott MP, Lawrence PA. Obituary: Edward B. Lewis (1918-2004). Nature 2004;431:143.
7. Cooper MK, Wassif CA, Krakowiak PA, et al. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet 2003;33:508-513
8. Lum L, Beachy PA. The Hedgehog response network: sensors, switches, and routers. Science 2004;304:1755-1759 (Pubitemid 38787882)
9. Rohatgi R, Scott MP. Patching the gaps in Hedgehog signalling. Nat Cell Biol 2007;9:1005-1009
10. Taipale J, Cooper MK, Maiti T, Beachy PA. Patched acts catalytically to suppress the activity of Smoothened. Nature 2002; 418:892-897 (Pubitemid 34966310)
11. Fujii K, Kohno Y, Sugita K, et al. Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. Hum Mutat 2003;21:451-452
12. Lindström E, Shimokawa T, Toftgård R, Zaphiropoulos PG. PTCH mutations: distribution and analyses. Hum Mutat 2006;27:215-219
13. Xie J, Murone M, Luoh SM, et al. Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 1998;391:90-92 (Pubitemid 28079221)
14. Beachy PA, Karhadkar SS, Berman DM. Mending and malignancy. Nature 2004;431:402.
15. Beachy PA, Karhadkar SS, Berman DM. Tissue repair and stem cell renewal in carcinogenesis. Nature 2004;432:324-331 (Pubitemid 39551660)
16. Berman DM, Karhadkar SS, Maitra A, et al. Widespread requirement for Hedgehog ligand stimulation in growth of digestive tract tumours. Nature 2003;425:846-851 (Pubitemid 37351469)
17. Thayer SP, di Magliano MP, Heiser PW, et al. Hedgehog is an early and late mediator of pancreatic cancer tumorigenesis. Nature 2003;425:851-856
18. Karhadkar SS, Bova GS, Abdallah N, et al. Hedgehog signalling in prostate regeneration, neoplasia and metastasis. Nature 2004;431:707-712 (Pubitemid 39382619)
19. Watkins DN, Berman DM, Burkholder SG, Wang B, Beachy PA, Baylin SB. Hedgehog signalling within airway epithelial progenitors and in small-cell lung cancer. Nature 2003;422:313-317 (Pubitemid 36378358)
20. Peacock CD, Wang Q, Gesell GS, et al. Hedgehog signaling maintains a tumor stem cell compartment in multiple myeloma. Proc Natl Acad Sci U S A 2007;104:4048-4053 (Pubitemid 47181576)
21. Cohen MM Jr. The hedgehog signaling network. Am J Med Genet A 2003;123A:5-28.
22. Roessler E, Belloni E, Gaudenz K, et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 1996;14:357-360
23. Chiang C, Litingtung Y, Lee E, et al. Cyclopia and defective axial patteming in mice lacking Sonic hedgehog gene function. Nature 1996;383:407-413 (Pubitemid 26330823)
24. Lettice LA, Heaney SJ, Purdie LA, et al. A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. Hum Mol Genet 2003;12:1725-1735
25. Cunniff C, Kratz LE, Moser A, Natowicz MR, Kelley RI. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. Am J Med Genet 1997;68:263-269 (Pubitemid 27081806)
26. Kusano KF, Pola R, Murayama T, et al. Sonic hedgehog myocardial gene therapy : tissue repair through transient reconstitution of embryonic signaling. Nat Med 2005;11:1197-1204 (Pubitemid 43093667)
27. Ohba S, Kawaguchi H, Kugimiya F, et al. Patched1 haploinsufficiency increases adult bone mass and modulates Gli3 repressor activity. Dev Cell 2008;14:689-699 (Pubitemid 351622616)
28. Parmantier E, Lynn B, Lawson D, et al. Schwann cell-derived Desert hedgehog controls the development of peripheral nerve sheaths. Neuron 1999;23:713-724 (Pubitemid 29411561)
29. Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996;85:841-851 (Pubitemid 26192135)
30. Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996;272:1668-1671 (Pubitemid 26200029)
31. Gorlin RJ, Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. N EngI J Med 1960;262:908-912
32. Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine 1987;66:98-113.
33. Fujii K, Ishikawa S, Uchikawa H, et al. High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. Hum Genet 2007;122:459-466 (Pubitemid 350148957)
34. Chenevix-Trench G, Wicking C, Berkman J, et al. Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCs) in 15 Australasian families:linkage and loss of heterozygosity. Am J Hum Genet 1993;53:760-767 (Pubitemid 23304149)
35. O'Malley S. Weitman D, Olding M, Sekhar L. Multiple neoplasms following craniospinal irradiation for medulloblastoma in a patient with nevoid basal cell carcinoma syndrome. Case report. J Neurosurg 1997;86:286-288 (Pubitemid 27130689)
36. Aszterbaum M, Epstein J, Oro A, et al. Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. Nat Med 1999;5:1285-1291 (Pubitemid 29535606)
37. Gorlin RJ. Nevoid basal cell carcinoma syndrome. In: Gomez MR, ed. Neurocutaneous diseases. A practical approach. London: Butterworths, 1987:67-79.
38. Fujii K, Suzuki N, Ishijima S, et al. Abnormal DNA synthesis activity induced by X-rays in nevoid basal cell carcinoma syndrome cells. Biochem Biophys Res Commun 1997;240:269-272 (Pubitemid 27523649)
39. Dezawa M, Fujii K, Kita K. Increase in nucleoli after x-radiation of fibroblasts of patients with Gorlin syndrome. J Lab Clin Med 1999;134:585-591
40. Fujii K, Miyashita T, Takanashi J, et al. Gamma-irradiation deregulates cell cycle control and apoptosis in nevoid basal cell carcinoma syndrome-derived cells. Jpn J Cancer Res 1999;90:1351-1357 (Pubitemid 30032074)
41. Barnes EA, Kong M, Ollendorff V, Donoghue DJ. Patched1 interacts with cyclin B1 to regulate cell cycle progression. EMBO J 2001;20:2214-2223 (Pubitemid 32410591)
42. Lam CW, Xie J, To KF, et al. A frequent activated smoothened mutation in sporadic basal cell carcinomas. Oncogene 1999;18:833-836 (Pubitemid 29080343)
43. Ruiz i Altaba A, Sánchez P, Dahmane N. Gli and hedgehog in cancer: tumours, embryos and stem cells. Nat Rev Cancer 2002;2:361-372
44. Dahmane N, Lee J, Robins P, Heller P, Ruiz i Altaba A. Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours. Nature 1997;389:876-881
45. Vortkamp A, Gessler M, Grzeschik KR. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 1991;352:539-540 (Pubitemid 21912379)
46. Kang S, Graham JM Jr, Olney AR, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997;15:266-268 (Pubitemid 27098719)
47. Johnston JJ, Olivos-Glander I, Killoran C, et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005;76:609-622 (Pubitemid 40432168)
48. Radhakrishna U, Wild A, Grzeschik KR, Antonarakis SE. Mutation in GLI3 in postaxial polydactyly type A. Nat Genet 1997;17:269-271
49. Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995;376:348-351
50. Bartsch O, Schmidt S, Richter M, et al. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet 2005;117:485-493 (Pubitemid 41236370)
51. Bale AE. Sheep, lilies and human genetics. Nature 2000;406:944-945
52. Taipale J, Chen JK, Cooper MK, et al. Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine. Nature 2000;406:1005-1009
53. Berman DM, Karhadkar SS, Hallahan AR, et al. Medulloblastoma growth inhibition by hedgehog pathway blockade. Science 2002;297:1559-1561
54. Varjosalo M, Taipale J. Hedgehog: functions and mechanisms. Genes Dev 2008;22:2454-2472
55. Garber K. Hedgehog drugs begin to show results. J Nat! Cancer Inst 2008;100:692-697
56. Kimura H, Ng JM, Curran T. Transient inhibition of the Hedgehog pathway in young mice causes permanent defects in bone structure. Cancer Cell 2008;13:249-260 (Pubitemid 351324879)
57. Rubin LL, de Sauvage FJ. Targeting the Hedgehog pathway in cancer. Nat Rev Drug Discov 2006;5:1026-1033
58. Chen JK, Taipale J, Young KE, Maiti T, Beachy PA. Small molecule modulation of Smoothened activity. Proc Natl Acad Sci U S A 2002;99:14071-14076 (Pubitemid 35257626)
59. Williams JA, Guicherit OM, Zaharian BI, et al. Identification of a small molecule inhibitor of the hedgehog signaling pathway: effects on basal cell carcinoma-like lesions. Proc Natl Acad Sci U S A 2003;100:4616-4621
60. Gaide O, Schneider P. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med 2003;9:614-618 (Pubitemid 36597109)