Nevoid basal cell carcinoma syndrome: Molecular biology and new hypotheses

International Journal of Oral and Maxillofacial Surgery

Volumn 28, Issue 3, 1999, Pages 216-223

  Cohen Jr , M Michael ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

Author keywords

Basal cell carcinoma; Hedgehog signaling network; Medulloblastoma; Odontogenic keratocyst; Patched; Smoothened, sonic hedgehog, GLI3

Indexed keywords

CELL SURFACE RECEPTOR; G PROTEIN COUPLED RECEPTOR; GLI PROTEIN; MEMBRANE PROTEIN; ONCOPROTEIN; PATCHED RECEPTORS; PROTEIN; SMO PROTEIN, HUMAN; SONIC HEDGEHOG PROTEIN; TRANSACTIVATOR PROTEIN; TRANSCRIPTION FACTOR;

ANIMAL; BASAL CELL NEVUS SYNDROME; EMBRYO INDUCTION; GENE EXPRESSION REGULATION; GENETICS; HETEROZYGOSITY LOSS; HUMAN; MORPHOGENESIS; PHYSIOLOGY; POINT MUTATION; REVIEW; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE;

ANIMALS; BASAL CELL NEVUS SYNDROME; BODY PATTERNING; EMBRYONIC INDUCTION; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, TUMOR SUPPRESSOR; HEDGEHOG PROTEINS; HUMANS; LOSS OF HETEROZYGOSITY; MEMBRANE PROTEINS; ONCOGENE PROTEINS; POINT MUTATION; PROTEINS; RECEPTORS, CELL SURFACE; RECEPTORS, G-PROTEIN-COUPLED; SIGNAL TRANSDUCTION; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS;

EID: 0033137316     PISSN: 09015027     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0020.1999.283280314.x     Document Type: Article

References (50)

1. AKIMARU H, CHEN Y, DAI P, et al. Drosophila CMP is a co-activator of cubitus interruptus in hedgehog signalling. Nature 1997: 386: 735-8.
2. ALCEDO J, AYZENZON M, OHLEN TV, et al. The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal. Cell 1996: 86: 221-32.
3. ALTABA A-R. Catching a Gli-mpse of Hedgehog. Cell 1997: 90: 193-6.
4. AZA-BLANC P, RAMIREZ-WEBER F-A, LAGET M-P, et al. Proteolysis that is inhibited by Hedgehog targets cubitus interruptus protein to the nucleus and converts it to a repressor. Cell 1997: 89: 1043-53.
5. BELLONI E, MUENKE M, ROESSLER E, et al. Identification of Sonic Hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet 1996: 14: 353-6.
6. BIESECKER LG. Strike three for GLI3. Nat Genet 1997: 17: 259-60.
7. CARSTEA ED, MORRIS JA, COLEMAN KG, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 1997: 277: 228-31.
8. CHIDAMBARAM A, GOLDSTEIN AM, GAILANI MR, et al. Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res 1996: 56: 4599-601.
9. COHEN MM JR. Editorial review. Transforming growth factor βs and fibroblast growth factors and their receptors: role in sutural biology and craniosynostosis. J Bone Miner Res 1997: 12: 322-31.
10. DAHMANE N, LEE J, ROBINS P, et al. Activation of the transcription factor Gli1 and the Sonic Hedgehog signalling pathway in skin tumors. Nature 1997: 389: 876-80.
11. DOMINGUEZ M, BRUNNER M, HAFEN E, et al. Sending and receiving the Hedgehog signal: control by the Drosophila Gli protein cubitus interruptus. Science 1996: 272: 1621-5.
12. GAILANI MR, BALE AE. Review. Developmental genes and cancer: role of Patched in basal cell carcinoma of the skin. J Natl Cancer Inst 1997: 89: 1103-7.
13. GAILANI MR, STÅHLE-BACKDAHL M, LEFFELL DJ, et al. The role of the human homologue of Drosophila Patched in sporadic basal cell carcinomas. Nat Genet 1996: 14: 78-81.
14. GOODRICH LV, MILENKOVIC L, HIGGINS KM, et al. Altered neural cell fates and medulloblastoma in mouse Patched mutants. Science 1997: 277: 1109-12.
15. GORLIN RJ. Nevoid basal cell carcinoma syndrome. Dermatol Clin 1995: 13: 113-25.
16. GORLIN RJ. Nevoid basal cell carcinoma syndrome. Medicine 1987: 66: 96-113.
17. HAHN H, WICKING C, ZAPHIROPOULOS PG, et al. Mutations of the human homolog of Drosophila Patched in the nevoid basal cell carcinoma syndrome. Cell 1996: 85: 841-51.
18. INGHAM PW. Transducing Hedgehog: the story so far. EMBO J 1998: 17: 3505-11.
19. JOHNSON RL, ROTHMAN AL, XIE J, et al. Human homolog of Patched, a candidate gene for the basal cell nevus syndrome. Science 1996: 272: 1668-71.
20. KANG S, GRAHAM JM JR, OLNEY AH, et al. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet 1997: 15: 266-8.
21. KELLY R. Invited editorial. RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis. Am J Hum Genet 1998: 63: 322-6.
22. KELLEY RI, ROESSLER E, HENNEKAM RCM, et al. Holoprosencephaly in RSH/ Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? Am J Med Genet 1996: 66: 478-84.
23. LENCH NJ, TELFORD EAR, HIGH AS, et al. Characterisation of human Patched germ line mutations in naevoid basal cell carcinoma syndrome. Hum Genet 1997: 100: 497-502.
24. LEVANAT S, GORLIN RJ, FALLET S, et al. A two-hit model for developmental defects in Gorlin syndrome. Nat Genet 1996: 12: 85-7.
25. LI W, OHLMEYER JT, LANE ME, et al. Function of protein kinase A in hedgehog signal transduction and Drosophila imaginal disc development. Cell 1995: 80: 553-62.
26. MAESAWA C, TAMURA G, IWAYA T, et al. Mutations in the human homologue of the Drosophila Patched gene in esophageal squamous cell carcinoma. Genes Chromosomes Cancer 1998: 21: 276-9.
27. MING JE, KAUPAS ME, ROESSLER E, et al. Mutations of Patched in holoprosencephaly. American Society of Human Genetics, 48th Annual Meeting, Denver, Colorado, October 27-31, 1998, A27: Abstract #140.
28. MING JE, ROESSLER E, MUENKE M. Human developmental disorders and the Sonic Hedgehog pathway. Molecular Medicine Today, August 1998, pp. 343-9.
29. MOTOYAMA J, TAKASHI T, TAKESHIMA K, et al. Ptch2, a second mouse Patched gene is co-expressed with Sonic Hedgehog. Nat Genet 1998: 18: 104-6.
30. ORO AE, HIGGINS KM, Hu Z, et al. Basal cell carcinomas in mice overexpressing Sonic Hedgehog. Science 1997: 276: 817-21.
31. PETRIJ F, GILES RH, DAUWERSE HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995: 376: 348-51.
32. RADHAKRISHNA U, SOLANKI JV, BORNHOLDT D, et al. GLI3 gene mutations associated with autosomal dominant preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly type A/B (PAP-A/B). American Society of Human Genetics, 48th Annual Meeting, Denver, Colorado, October 27-31, 1998, Session 37: Abstract #172.
33. RADHAKRISHNA U, WILD A, GRZESCHIK K-H, et al. Mutations in GLI3 in postaxial polydactyly type A. Nature Genet 1997: 17: 269-71.
34. RAFFEL C, JENKINS RB, FREDERICK L, et al. Sporadic medulloblastomas contain PTC mutations. Cancer Res 1997: 57: 842-5.
35. REIFENBERGER J, WOLTER M, WEBER RG, et al. Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Res 1998: 58: 1798-1803.
36. ROBBINS DJ, NYBAKKEN KE, KOBAYASHI R, et al. Hedgehog elicits signal transduction by means of a large complex containing the kinesin-related protein costal 2. Cell 1997: 90: 225-34.
37. ROESSLER E, BELLONI E, GAUDENZ K, et al. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 1997: 6: 1847-53.
38. SHIN S, KOGERMAN P, LINDSTROM E, et al. GLI3 truncation mutations in human disorders recapitulate cubitus interruptus gene functions and localization. American Society of Human Genetics, 48th Annual Meeting, Denver, Colorado, October 27-31, 1998, A7: Abstract #28.
39. SISSON JC, Ho KS, SUYAMA K, et al. Costal 2, a novel kinesin-related protein in the Hedgehog signaling pathway. Cell 1997: 90: 235-45.
40. SMYTH I, NARANG MA, HEIMANN C, et al. Isolation and characterization of human Patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome Ip32. Hum Molec Genet 1999: 8: 291-297.
41. STONE DM, HYNES M, ARMANINI M, et al. The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog. Nature 1996: 384: 129-34.
42. TABIN CJ, MCMAHON AP. Recent advances in Hedgehog signalling. Trends Cell Biol 1997: 7: 442-6.
43. UNDEN AB, HOLMBERG E, LUNDH-ROZELL B, et al. 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 1996: 56: 4562-5.
44. VORECHOVSKY I, UNDEN AB, SANDSTEDT B, et al. Trichoepitheliomas contain somatic mutations in the overexpressed PTC gene: support for a gatekeeper mechanism in skin tumorigenesis. Cancer Res 1997: 57: 4677-81.
45. WICKING C, EVANS T, HENK B, et al. No evidence for the HI33Y mutation in Sonic Hedgehog in a collection of common tumour types. Oncogene 1998: 16: 1091-3.
46. WICKING C, SHANLEY S, SMYTH I, et al. 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 1997: 60: 21-6.
47. WILD A, KALFT-SUSKE M, VORTKAMP A, et al. Point mutations in human GLI3 cause Greig syndrome. Hum Molec Genet 1997: 6: 1979-84.
48. WOLTER M, REIFENBERGER J, SOMMER C, et al. Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Res 1997: 57: 2581-5.
49. XIE J, JOHNSON RL, ZHANG X, et al. Mutations of the Patched gene in several types of sporadic extracutaneous tumors. Cancer Res 1997: 57: 2369-72.
50. XIE J, MURONE M, LUCH S-M, et al. Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 1998: 391: 90-2.