The Hedgehog signalling pathways in human pathology

Current Diagnostic Pathology

Volumn 10, Issue 2, 2004, Pages 157-168

  Cross, S S ^a   Bury, J P ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

Author keywords

Basal cell carcinoma; Developmental biology; Hedgehog; Patched; Signalling; Smoothened

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; SONIC HEDGEHOG PROTEIN; STEM CELL FACTOR RECEPTOR;

BASAL CELL CARCINOMA; BLADDER CARCINOMA; CELL CYCLE; CELL DIFFERENTIATION; CELL GROWTH; DEVELOPMENTAL BIOLOGY; ESOPHAGUS ATRESIA; GENE DUPLICATION; GENETIC TRANSCRIPTION; HAIR FOLLICLE; HEDGEHOG; HISTOPATHOLOGY; HOLOPROSENCEPHALY; HUMAN; LUNG SMALL CELL CANCER; LYMPHOCYTE ACTIVATION; MEDULLOBLASTOMA; MOLECULAR EVOLUTION; NONHUMAN; PATHOGENESIS; REVIEW; SIGNAL TRANSDUCTION; TRACHEOESOPHAGEAL FISTULA; TRANSITIONAL CELL CARCINOMA; TUMOR;

EID: 1942437650     PISSN: 09686053     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cdip.2003.11.005     Document Type: Article

References (93)

1. Anderson KV, Ingham PW. The transformation of the model organism: a decade of developmental genetics. Nat Genet 2003;33(Suppl):285-93.
2. Ingham PW, McMahon AP. Hedgehog signaling in animal development: paradigms and principles. Genes Dev 2001;15:3059-87.
3. Nybakken K, Perrimon N. Hedgehog signal transduction: recent findings. Curr Opin Genet Dev 2002;12:503-11.
4. McMahon AP, Ingham PW, Tabin CJ. Developmental roles and clinical significance of hedgehog signaling. Curr Top Dev Biol 2003;53:1-114.
5. Mullor JL, Sanchez P, Altaba AR. Pathways and consequences: hedgehog signaling in human disease. Trends Cell Biol 2002;12:562-9.
6. Ingham PW. Hedgehog signaling: a tale of two lipids. Science 2001;294:1879-81.
7. Jeong J, McMahon AP. Cholesterol modification of hedgehog family proteins. J Clin Invest 2002;110:591-6.
8. Ingham PW, Nystedt S, Nakano Y, et al. Patched represses the Hedgehog signalling pathway by promoting modification of the Smoothened protein. Curr Biol 2000;10:1315-8.
9. Mullor JL, Dahmane N, Sun T, et al. Wnt signals are targets and mediators of Gli function. Curr Biol 2001;11:769-73.
10. Wicking C, McGlinn E. The role of hedgehog signalling in tumorigenesis. Cancer Lett 2001;173:1-7.
11. Bergstein I, Leopold P, Sato N, et al. In vivo enhanced expression of patched dampens the sonic hedgehog pathway. Mol Ther 2002;6:258-64.
12. Duman-Scheet M, Weng L, Xin S, et al. Hedgehog regulates cell growth and proliferation by inducing Cyclin D and Cyclin E. Nature 2002;417:299-304.
13. Roy S, Ingham PW. Hedgehogs tryst with the cell cycle. J Cell Sci 2002;115:4393-7.
14. Kalderon D. Similarities between the hedgehog and Wnt signaling pathways. Trends Cell Biol 2002;12:523-31.
15. Barnes EA, Kong M, Ottendorff V, et al. Patched1 interacts with cyclin B1 to regulate cell cycle progression. EMBO J 2001;20:2214-23.
16. Ellis T, Smyth I, Riley E, et al. Patched 1 conditional null allele in mice. Genesis 2003;36:158-61.
17. Britto JM, Tannahill D, Keynes RJ. Life, death and Sonic hedgehog. Bioessays 2000;22:499-502.
18. Ho KS, Scott MP. Sonic hedgehog in the nervous system: functions, modifications and mechanisms. Curr Opin Neurobiol 2002;12:57-63.
19. Guerrero I, Ruiz I, Altaba A. Development. Longing for ligand: hedgehog, patched, and cell death. Science 2003; 301:774-6.
20. Thibert C, Teillet MA, Lapointe F, et al. Inhibition of neuroepithelial patched-induced apoptosis by sonic hedgehog. Science 2003;301:843-6.
21. Wolff C, Roy S, Ingham PW. Multiple muscle cell identities induced by distinct levels and timing of hedgehog activity in the zebrafish embryo. Curr Biol 2003;13:1169-81.
22. Lewis MT, Ross S, Strickland PA, et al. Defects in mouse mammary gland development caused by conditional haploinsufficiency of Patched-1. Development 1999;126: 5181-93.
23. Lewis MT, Ross S, Strickland PA, et al. The Gli2 transcription factor is required for normal mouse mammary gland development. Dev Biol 2001;238:133-44.
24. Barnett DH, Huang HY, Wu XR, et al. The human prostate expresses sonic hedgehog during fetal development. J Urol 2002;168:2206-10.
25. Chepko G, Dickson RB. Ultrastructure of the putative stem cell niche in rat mammary epithelium. Tissue Cell 2003;35:83-93.
26. Perron M, Boy S, Amato MA, et al. A novel function for Hedgehog signalling in retinal pigment epithelium differentiation. Development 2003;130:1565-77.
27. Hebrok M. Hedgehog signaling in pancreas development. Mech Dev 2003;120:45-57.
28. Warburton D, Bellusci S, Del Moral PM, et al. Growth factor signaling in lung morphogenetic centers: automaticity, stereotypy and symmetry. Respir Res 2003;4:5.
29. Sullivan DC, Bicknell R. New molecular pathways in angiogenesis. Br J Cancer 2003;89:228-31.
30. Heussler HS, Suri M. Sonic hedgehog. Mol Pathol 2003; 56:129-31.
31. Stewart GA, Lowrey JA, Wakelin SJ, et al. Sonic hedgehog signaling modulates activation of and cytokine production by human peripheral CD4+T cells. J Immunol 2002; 169:5451-7.
32. Stewart GA, Hoyne GF, Ahmad SA, et al. Expression of the developmental Sonic hedgehog (Shh) signalling pathway is up-regulated in chronic lung fibrosis and the Shh receptor patched 1 is present in circulating T lymphocytes. J Pathol 2003;199:488-95.
33. Oro AE, Higgins K. Hair cycle regulation of Hedgehog signal reception. Dev Biol 2003;255:238-48.
34. Nanba D, Nakanishi Y, Hieda Y. Role of Sonic hedgehog signaling in epithelial and mesenchymal development of hair follicles in an organ culture of embryonic mouse skin. Dev Growth Differ 2003;45:231-9.
35. Dlugosz A. The Hedgehog and the hair follicle: a growing relationship. J Clin Invest 1999;104:851-3.
36. Van Den Brink GR, Hardwick JC, Nielsen C, et al. Sonic hedgehog expression correlates with fundic gland differentiation in the adult gastrointestinal tract. Mol Pathol 2003;56:150-5.
37. McKuisck V. Online Mendelian inheritance in man. 2003. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=search &db=omim.
38. Nanni L, Ming JE, Bocian M, et al. The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet 1999;8: 2479-88.
39. Hu D, Helms JA. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. Development 1999; 126:4873-84.
40. Odent S, Atti-Bitach T, Blayau M, et al. Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly. Hum Mol Genet 1999;8:1683-9.
41. Ming JE, Kaupas ME, Roessler E, et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 2002;110:297-301.
42. Roessler E, Muenke M. How a hedgehog might see holoprosencephaly. Hum Mol Genet 2003;12:R15-25.
43. Nanni L, Ming JE, Du Y, et al. SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet 2001;102:1-10.
44. Chuang L, Kuo PL, Yang HB, et al. Prenatal diagnosis of holoprosencephaly in two fetuses with der (7)t(1;7)(q32;q32)pat inherited from the father with double translocations. Prenat Diagn 2003;23:134-7.
45. Bate AE. Hedgehog signaling and human disease. Annu Rev Genomics Hum Genet 2002;3:47-65.
46. Bailey EC, Zhou L, Johnson RL. Several human PATCHED1 mutations block protein maturation. Cancer Res 2003;63: 1636-8.
47. Bate AE, Yu KP. The hedgehog pathway and basal cell carcinomas. Hum Mol Genet 2001;10:757-62.
48. Litingtung Y, Lei L, Westphal H, et al. Sonic hedgehog is essential to foregut development. Nat Genet 1998;20: 58-61.
49. Ioannides AS, Henderson DJ, Spitz L, et al. Rote of sonic hedgehog in the development of the trachea and oesophagus. J Pediatr Surg 2003;38:29-36.
50. Arsic D, Keenan J, Quan QB, et al. Differences in the levels of Sonic hedgehog protein during early foregut development caused by exposure to Adriamycin give clues to the role of the Shh gene in oesophageal atresia. Pediatr Surg Int 2003;19:463-6.
51. Motoyama J, Liu J, Mo R, et al. Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus. Nat Genet 1998;20:54-7.
52. Spilde T, Bhatia A, Ostlie D, et al. A role for sonic hedgehog signaling in the pathogenesis of human tracheoesophageal fistula. J Pediatr Surg 2003;38:465-8.
53. Mahlapuu M, Enerback S, Carlsson P. Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations. Development 2001;128:2397-406.
54. Reifenberger J, Arnold N, Kiechle M, et al. Coincident PTCH and BRCA1 germline mutations in a patient with nevoid basal cell carcinoma syndrome and familial breast cancer. J Invest Dermatol 2001;116:472-4.
55. Tojo M, Kiyosawa H, Iwatsuki K, et al. Expression of the GLI2 oncogene and its isoforms in human basal cell carcinoma. Br J Dermatol 2003;148:892-7.
56. Kim MY, Park HJ, Baek SC, et al. Mutations of the p53 and PTCH gene in basal cell carcinomas: UV mutation signature and strand bias. J Dermatol Sci 2002;29:1-9.
57. Saldanha G, Shaw JA, Fletcher A. Evidence that superficial basal cell carcinoma is monoclonal from analysis of the Ptch1 gene locus. Br J Dermatol 2002;147:931-5.
58. Wetmore C. Sonic hedgehog in normal and neoplastic proliferation: insight gained from human tumors and animal models. Curr Opin Genet Dev 2003;13:34-42.
59. Saldanha G. The Hedgehog signalling pathway and cancer. J Pathol 2001;193:427-32.
60. Couve-Privat S, Bouadjar B, Avrit MF, et al. Significantly high levels of ultraviolet-specific mutations in the smoothened gene in basal cell carcinomas from DNA repair-deficient xeroderma pigmentosum patients. Cancer Res 2002; 62:7186-9.
61. Grachtchouk V, Grachtchouk M, Lowe L, et al. The magnitude of hedgehog signaling activity defines skin tumor phenotype. EMBO J 2003;22:2741-51.
62. Teh MT, Wong ST, Neill GW, et al. FOXM1 is a downstream target of Gli1 in basal cell carcinomas. Cancer Res 2002; 62:4773-80.
63. Regl G, Neill GW, Eichberger T, et al. Human GLI2 and GLI1 are part of a positive feedback mechanism in basal cell carcinoma. Oncogene 2002;21:5529-39.
64. Sheng H, Goich S, Wang A, et al. Dissecting the oncogenic potential of Gli2: deletion of an NH(2)-terminal fragment alters skin tumor phenotype. Cancer Res 2002;62:5308-16.
65. Neill GW, Ghali LR, Green JL, et al. Loss of protein kinase c alpha expression may enhance the tumorigenic potential of gli1 in basal cell carcinoma. Cancer Res 2003;63:4692-7.
66. Dicker AJ, Serewko MM, Russell T, et al. Isolation (from a basal cell carcinoma) of a functionally distinct fibroblast-like cell type that overexpresses Ptch. J Invest Dermatol 2002;118:859-65.
67. Saldanha G, Fletcher A, Stater DN. Basal cell carcinoma: a dermatopathological and molecular biological update. Br J Dermatol 2003;148:195-202.
68. Takata M, Tojo M, Hatta N, et al. No evidence of deregulated patched-hedgehog signaling pathway in trichoblastomas and other tumors arising within nevus sebaceous. J Invest Dermatol 2001;117:1666-70.
69. Toro JR, Shevchenko YO, Compton JG, et al. Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome. J Med Genet 2002;39:E10.
70. Mazzola CA, Pollack IF. Medulloblastoma. Curr Treat Options Neurol 2003;5:189-98.
71. Weiner HL, Bakst R, Hurlbert MS, et al. Induction of medulloblastomas in mice by sonic hedgehog, independent of Gli1. Cancer Res 2002;62:6385-9.
72. Taylor MD, Liu L, Raffet C, et al. Mutations in SUFU predispose to medulloblastoma. Nat Genet 2002;31:306-10.
73. Erez A, Ilan T, Amariglio N, et al. GLI3 is not mutated commonly in sporadic medulloblastomas. Cancer 2002; 95:28-31.
74. Calzada-Wack J, Schnitzbauer U, Watch A, et al. Analysis of the PTCH coding region in human rhabdomyosarcoma. Hum Mutat 2002;20:233-4.
75. Kappler R, Calzada-Wack J, Schnitzbauer U, et al. Molecular characterization of patched-associated rhabdomyosarcoma. J Pathol 2003;200:348-56.
76. Williams SV, Sibley KD, Davies AM, et al. Molecular genetic analysis of chromosome 9 candidate tumor-suppressor loci in bladder cancer cell lines. Genes Chromosomes Cancer 2002;34:86-96.
77. Aboulkassim TO, LaRue H, Lemieux P, et al. Alteration of the PATCHED locus in superficial bladder cancer. Oncogene 2003;22:2967-71.
78. Watkins DN, Berman DM, Baylin SB. Hedgehog signaling: progenitor phenotype in small-cell lung cancer. Cell Cycle 2003;2:196-8.
79. Watkins DN, Berman DM, Burkholder SG, et al. Hedgehog signalling within airway epithelial progenitors and in small-cell lung cancer. Nature 2003;422:313-7.
80. Hu Z, Bonifas JM, Aragon G, et al. Evidence for tack of enhanced hedgehog target gene expression in common extracutaneous tumors. Cancer Res 2003;63:923-8.
81. Mironov N, Jansen LA, Zhu WB, et al. A novel sensitive method to detect frameshift mutations in exonic repeat sequences of cancer-related genes. Carcinogenesis 1999; 20:2189-92.
82. Vorechovsky I, Benediktsson KP, Toftgard R. The patched/hedgehog/smoothened signalling pathway in human breast cancer: no evidence for H133y SHH, PTCH and SMO mutations. Eur J Cancer 1999;35:711-3.
83. Wicking C, Evans T, Henk B, et al. No evidence for the H133Y mutation in SONIC HEDGEHOG in a collection of common tumour types. Oncogene 1998;16:1091-3.
84. Chang-Claude J, Dunning A, Schnitzbauer U, et al. The patched polymorphism Pro1315Leu (C3944T) may modulate the association between use of oral contraceptives and breast cancer risk. Int J Cancer 2003;103:779-83.
85. Koike C, Mizutani T, Ito T, et al. Introduction of wild-type patched gene suppresses the oncogenic potential of human squamous cell carcinoma cell lines including A431. Oncogene 2002;21:2670-8.
86. Yamazaki F, Aragane Y, Kawada A, et al. Immunohistochemical detection for nuclear beta-catenin in sporadic basal cell carcinoma. Br J Dermatol 2001;145:771-7.
87. Stecca B, Altaba A. The therapeutic potential of modulators of the Hedgehog-Gli signaling pathway. J Biol 2002;1:9.
88. Bak M, Hansen C, Tommerup N, et al. The hedgehog signaling pathway-implications for drug targets in cancer and neurodegenerative disorders. Pharmacogenomics 2003; 4:411-29.
89. King RW. Roughing up smoothened: chemical modulators of hedgehog signaling. J Biol 2002;1:8.
90. Taipale J, Chen JK, Cooper MK, et al. Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine. Nature 2000;406:1005-9.
91. Berman DM, Karhadkar SS, Hallahan AR, et al. Medulloblastoma growth inhibition by hedgehog pathway blockade. Science 2002;297:1559-61.
92. 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 USA 2003;100:4616-21.
93. Chen JK, Taipale J, Young KE, et al. Small molecule modulation of smoothened activity. Proc Natl Acad Sci USA 2002;99:14071-6.