Involvement of endothelin receptors in normal and pathological development of neural crest cells

International Journal of Developmental Biology

Volumn 47, Issue 5, 2003, Pages 315-325

  Pla, Patrick ^a   Larue, Lionel ^a  

^a INSTITUT CURIE   (France)

Author keywords

Glial cells; Melanoblast; Melanocyte; Melanoma; Neurons

Indexed keywords

ENDOTHELIN A RECEPTOR; ENDOTHELIN B RECEPTOR; ENDOTHELIN RECEPTOR;

ABDOMINAL GANGLION; BLOOD PRESSURE REGULATION; BRAIN; CELL MATURATION; CELLULAR DISTRIBUTION; GENE EXPRESSION; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GLIA CELL; HEART MUSCLE CELL; HUMAN; MELANOCYTE; MELANOMA; NERVE CELL; NEURAL CREST CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DETERMINATION; PROTEIN FUNCTION; REVIEW;

AMINO ACID SEQUENCE; ANIMALS; CELL LINEAGE; CLONING, MOLECULAR; DNA, COMPLEMENTARY; HUMANS; LAMININ; MELANOCYTES; MELANOMA; MICE; MICE, KNOCKOUT; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; NEURAL CREST; NEUROGLIA; NEURONS; RECEPTORS, ENDOTHELIN; SIGNAL TRANSDUCTION; TIME FACTORS;

AVES; MAMMALIA;

EID: 0042526056     PISSN: 02146282     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (77)

1. AKIYAMA, T., TERAMOTO, T., KURABAYASHI, A., SUNAGAWA, Y., NAKAI, T., HASHIMOTO, K. and MIURA, S. (2002) Immunofluorescence studies on functions of endothelin-endothelin receptors in Medaka fish pigment cells using the specific antibodies. Pigment Cell Research 15: 74-74
2. AMIEL, J., ATTIE, T., JAN, D., PELET, A., EDERY, P., BIDAUD, C., LACOMBE, D., TAM, P., SIMEONI, J., FLORI, E., NIHOUL-FEKETE, C., MUNNICH, A. and LYONNET, S. (1996) Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum Mol Genet 5: 355-7.
3. ANGRIST, M., JING, S., BOLK, S., BENTLEY, K., NALLASAMY, S., HALUSHKA, M., FOX, G.M. and CHAKRAVARTI, A. (1998) Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. Genomics 48: 354-62.
4. ATTIE, T., TILL, M., PELET, A., AMIEL, J., EDERY, P., BOUTRAND, L., MUNNICH, A. and LYONNET, S. (1995) Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease, Hum Mol Genet 4: 2407-9.
5. AURICCHIO, A., GRISERI, P., CARPENTIERI, M.L., BETSOS, N., STAIANO, A., TOZZI, A., PRIOLO, M., THOMPSON, H., BOCCIARDI, R., ROMEO, G., BALLABIO, A. and CECCHERINI, I. (1999) Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. Am J Hum Genet 64: 1216-21.
6. BAYNASH, A.G., HOSODA, K., GIAID, A., RICHARDSON, J.A., EMOTO, N., HAMMER, R.E. and YANAGISAWA, M. (1994) Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal metanocytes and enteric neurons. Cell 79: 1277-85.
7. BRENNAN, A., DEAN, C.H., ZHANG, A.L., CASS, D.T., MIRSKY, R. and JESSEN, K.R. (2000) Endothelins control the timing of Schwann cell generation in vitro and in vivo. Dev Biol 227: 545-57.
8. CARRASQUILLO, M.M., MCCALLION, A.S., PUFFENBERGER, E.G., KASHUK, C.S., NOURI, N. and CHAKRAVARTI, A. (2002) Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet 32: 237-44.
9. CECCHERINI, I., ZHANG, A.L., MATERA, I., YANG, G., DEVOTO, M., ROMEO, G. and CASS, D.T. (1995) Interstitial deletion of the endothelin-B receptor gene in the spotting lethal (si) rat. Hum Mol Genet 4: 2089-96.
10. CHALAZONITIS, A., TENNYSON, V.M., KIBBEY, M.C., ROTHMAN, T.P. and GERSHON, M.D. (1997) The alpha1 subunit of laminin-1 promotes the development of neurons by interacting with LBP110 expressed by neural crest-derived cells immunoselected from the fetal mouse gut. J Neurobiol 33: 118-38.
11. CHAN, T.S., LIN, C.X., CHAN, W.Y., CHUNG, S.S. and CHUNG, S.K. (1995) Mouse preproendothelin-1 gene. cDNA cloning, sequence analysis and determination of sites of expression during embryonic development. Eur J Biochem 234: 819-26.
12. CHARITE, J., MCFADDEN, D.G., MERLO, G., LEVI, G., CLOUTHIER, D.E., YANAGISAWA, M., RICHARDSON, J.A. and OLSON, E.N. (2001) Role of Dlx6 in regulation of an endothelin-1-dependent, dHAND branchial arch enhancer. Genes Dev 15: 3039-49.
13. CLOUTHIER, D.E., HOSODA, K., RICHARDSON, J.A., WILLIAMS, S.C., YANAGISAWA, H., KUWAKI, T., KUMADA, M., HAMMER, R.E. and YANAGISAWA, M. (1998) Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. Development 125: 813-24.
14. CLOUTHIER, D.E., WILLIAMS, S.C., YANAGISAWA, H., WIEDUWILT, M., RICHARDSON, J.A. and YANAGISAWA, M. (2000) Signaling pathways crucial for craniofacial development revealed by endothelin-A receptor-deficient mice. Dev Biol 217: 10-24.
15. CREAZZO, T.L., GODT, R.E., LEATHERBURY, L., CONWAY, S.J. and KIRBY, M.L. (1998) Role of cardiac neural crest cells in cardiovascular development. Annu Rev Physiol 60: 267-86.
16. DAVENPORT, A. P. (2002) International Union of Pharmacology. XXIX. Update on endothelin receptor nomenclature. Pharmacol Rev 54: 219-26.
17. DEMUNTER, A., DEWOLF-PEETERS, C., DEGREEF, H., STAS, M. and VAN DEN OORD, J.J. (2001) Expression of the endothelin-B receptor in pigment cell lesions of the skin. Evidence for its role as tumor progression marker in malignant melanoma. Virchows Arch 438: 485-91.
18. EBERLE, J., FECKER, L.F., ORFANOS, C.E. and GEILEN, C.C. (2002) Endothelin-1 decreases basic apoptotic rates in human melanoma cell lines. J Invest Dermatol 119: 549-55.
19. EDERY, P., ATTIE, T., AMIEL, J., PELET, A., ENG, C., HOFSTRA, R.M., MARTELLI, H., BIDAUD, C., MUNNICH, A. and LYONNET, S. (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 12: 442-4.
20. GARIEPY, C.E., CASS, D.T. and YANAGISAWA, M. (1996) Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. Proc Natl Acad Sci USA 93: 867-72.
21. HEARN, C.J., MURPHY, M. and NEWGREEN, D. (1998) GDNF and ET-3 differentially modulate the numbers of avian enteric neural crest cells and enteric neurons in vitro. Dev Biol 197: 93-105.
22. HOSODA, K., HAMMER, R.E., RICHARDSON, J.A., BAYNASH, A.G., CHEUNG, J.C., GIAID, A. and YANAGISAWA, M. (1994) Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79: 1267-76.
23. IMAMURA, F., ARIMOTO, I., FUJIYOSHI, Y. and DOI, T. (2000) W276 mutation in the endothelin receptor subtype B impairs Gq coupling but not Gi or Go coupling. Biochemistry 39: 686-92.
24. JAMAL, S. and SCHNEIDER, R.J. (2002) UV-induction of keratinocyte endothelin-1 downregulates E-cadherin in melanocytes and melanoma cells. J Clin Invest 110: 443-52.
25. KANG, H.Y., KANG, W.H. and LEE, C. (1998) Endothelin-B receptor-mediated Ca2+ signaling in human melanocytes. Pflugers Arch 435: 350-6.
26. KAPUR, R.P., SWEETSER, D.A., DOGGETT, B., SIEBERT, J.R. and PALMITER, R.D. (1995) Intercellular signals downstream of endothelin receptor-B mediate colonization of the large intestine by enteric neuroblasts. Development 121: 3787-95.
27. KARNE, S., JAYAWICKREME, C.K. and LERNER, M.R. (1993) Cloning and characterization of an endothelin-3 specific receptor (ETC receptor) from Xenopus laevis dermal melanophores. J Biol Chem 268: 19126-33.
28. KEMPF, H., LINARES, C., CORVOL, P. and GASC, J.M. (1998) Pharmacological inactivation of the endothelin type A receptor in the early chick embryo: a model of mispatterning of the branchial arch derivatives. Development 125: 4931-41.
29. KOS, L., ITTAH, A. and KALAISELVI, K. (2002) Transgenic expression of endothelin receptor B rescues coat color spotting in piebald lethal mice. Pigment Cell Research 15: 35-35.
30. KUNIEDA, T., KUMAGAI, T., TSUJI, T., OZAKI, T., KARAKI, H. and IKADAI, H. (1996) A mutation in endothelin-B receptor gene causes myenteric aganglionosis and coat color spotting in rats. DNA Res 3: 101-5.
31. KURIHARA, Y., KURIHARA, H., SUZUKI, H., KODAMA, T., MAEMURA, K., NAGAI, R., ODA, H., KUWAKI, T., CAO, W.H., KAMADA, N. et al. (1994) Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1. Nature 368: 703-10.
32. KUSAFUKA, T., WANG, Y. and PURI, P. (1996) Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Hum Mol Genet 5: 347-9.
33. LAHAV, R., DUPIN, E., LECOIN, L., GLAVIEUX, C., CHAMPEVAL, D., ZILLER, C. and LE DOUARIN, N.M. (1998) Endothelin 3 selectively promotes survival and proliferation of neural crest-derived glial and melanocytic precursors in vitro. Proc Natl Acad Sci USA 95: 14214-9.
34. LAHAV, R., HEFFNER, G. and PATTERSON, P.H. (1999) An endothelin receptor B antagonist inhibits growth and induces cell death in human melanoma cells in vitro and in vivo. Proc Natl Acad Sci USA 96: 11496-500.
35. LAHAV, R., ZILLER, C., DUPIN, E. and LE DOUARIN, N.M. (1996) Endothelin 3 promotes neural crest cell proliferation and mediates a vast increase in melanocyte number in culture. Proc Natl Acad Sci USA 93: 3892-7.
36. LANG, D., CHEN, F., MILEWSKI, R., LI, J., LU, M.M. and EPSTEIN, J.A. (2000) Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret. J Clin Invest 106: 963-71.
37. LE DOUARIN, N. and KALCHEIM, C. (1999) The neural crest, Second edition ed., p. 445, Cambridge University Press, Cambridge.
38. LECOIN, L., LAHAV, R., MARTIN, F.H., TEILLET, M.A. and LE DOUARIN, N.M. (1995) Steel and c-kit in the development of avian melanocytes: a study of normally pigmented birds and of the hyperpigmented mutant silky fowl. Dev Dyn 203: 106-18.
39. LECOIN, L., SAKURAI, T., NGO, M.T., ABE, Y., YANAGISAWA, M. and LE DOUARIN, N.M. (1998) Cloning and characterization of a novel endothelin receptor subtype in the avian class. Proc Natl Acad Sci USA 95: 3024-9.
40. LEIBL, M.A., OTA, T., WOODWARD, M.N., KENNY, S.E., LLOYD, D.A., VAILLANT, C.R. and EDGAR, D.H. (1999) Expression of endothelin 3 by mesenchymal cells of embryonic mouse caecum. Gut 44: 246-52.
41. MCCABE, L., GRIFFIN, L.D., KINZER, A., CHANDLER, M., BECKWITH, J.B. and MCCABE, E.R. (1990) Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). Am J Med Genet 36: 336-40.
42. METALLINOS, D.L., BOWLING, A.T. and RINE, J. (1998) A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease. Mamm Genome 9: 426-31.
43. MILLER, C.T., SCHILLING, T.F., LEE, K., PARKER, J. and KIMMEL, C.B. (2000) sucker encodes a zebrafish Endothelin-1 required for ventral pharyngeal arch development. Development 127: 3815-28.
44. MIYAUCHI, T. and MASAKI, T. (1999) Pathophysiology of endothelin in the cardiovascular system. Annu Rev Physiol 61: 391-415.
45. NATAF, V., AMEMIYA, A., YANAGISAWA, M. and LE DOUARIN, N.M. (1998) The expression pattern of endothelin 3 in the avian embryo. Mech Dev 73: 217-20.
46. NATAF, V., GRAPIN-BOTTON, A., CHAMPEVAL, D., AMEMIYA, A., YANAGISAWA, M. and LE DOUARIN, N.M. (1998) The expression patterns of endothelin-A receptor and endothelin 1 in the avian embryo. Mech Dev 75: 145-9.
47. NATAF, V., LECOIN, L., EICHMANN, A. and LE DOUARIN, N.M. (1996) Endothelin-B eceptor is expressed by neural crest cells in the avian embryo. Proc Natl Acad Sci USA 93: 9645-50.
48. OFFERMANNS, S., ZHAO, L.P., GOHLA, A., SAROSI, I., SIMON, M.I. and WILKIE, T.M. (1998) Embryonic cardiomyocyte hypoplasia and craniofacial defects in G alpha q/G alpha 11-mutant mice. EMBO J 17: 4304-12.
49. OHTANI, T., NINOMIYA, H., OKAZAWA, M., IMAMURA, S. and MASAKI, T. (1997) Bromodeoxyuridine-induced expression of endothelin A in A375 human melanoma cells. Biochem Biophys Res Commun 234: 526-30.
50. PARICHY, D.M., MELLGREN, E.M., RAWLS, J.F., LOPES, S.S., KELSH, R.N. and JOHNSON, S.L. (2000) Mutational analysis of endothelin receptor b1 (rose) during neural crest and pigment pattern development in the zebrafish Danio rerio. Dev Biol 227: 294-306.
51. PAVAN, W.J. and TILGHMAN, S.M. (1994) Piebald lethal (sl) acts early to disrupt the development of neural crest-derived melanocytes. Proc Natl Acad Sci USA 91: 7159-63.
52. PAYETTE, R.F., TENNYSON, V.M., POMERANZ, H.D., PHAM, T.D., ROTHMAN, T.P. and GERSHON, M.D. (1988) Accumulation of components of basal laminae: association with the failure of neural crest cells to colonize the presumptive aganglionic bowel of Is/Is mutant mice. Dev Biol 125: 341-60.
53. PINGAULT, V., BONDURAND, N., KUHLBRODT, K., GOERICH, D.E., PREHU, M.O., PULITI, A., HERBARTH, B., HERMANS-BORGMEYER, I., LEGIUS, E., MATTHIJS, G., AMIEL, J., LYONNET, S., CECCHERINI, I., ROMEO, G., SMITH, J.C., READ, A.P., WEGNER, M. and GOOSSENS, M. (1998) SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18: 171-3.
54. PIZZUTI, A., NOVELLI, G., RATTI, A., AMATI, F., MARI, A., CALABRESE, G., NICOLIS, S., SILANI, V., MARINO, B., SCARLATO, G., OTTOLENGHI, S. and DALLAPICCOLA, B. (1997) UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet 6: 259-65.
55. PLA, P., MOORE, R., MORALI, O.G., GRILLE, S., MARTINOZZI, S., DELMAS, V. and LARUE, L. (2001) Cadherins in neural crest cell development and transformation. J Cell Physiol 189: 121-32.
56. POTTERF, S.B., FURUMURA, M., DUNN, K.J., ARNHEITER, H. and PAVAN, W.J. (2000) Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum Genet 107: 1-6.
57. PUFFENBERGER, E.G., HOSODA, K., WASHINGTON, S.S., NAKAO, K., DEWIT, D., YANAGISAWA, M. and CHAKRAVART, A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79: 1257-66.
58. RAWLS, J.F., MELLGREN, E.M. and JOHNSON, S.L. (2001) How the zebrafish gets its stripes. Dev Biol 240: 301-14.
59. REID, K., TURNLEY, A.M., MAXWELL, G.D., KURIHARA, Y., KURIHARA, H., BARTLETT, P.F. and MURPHY, M. (1996) Multiple roles for endothelin in melanocyte development: regulation of progenitor number and stimulation of differentiation. Development 122: 3911-9.
60. RHIM, H., DUNN, K.J., ARONZON, A., MAC, S., CHENG, M., LAMOREUX, M.L., TILGHMAN, S.M. and PAVAN, W.J. (2000) Spatially restricted hypopigmentation associated with an Ednrbs-modifying locus on mouse chromosome 10. Genome Res 10: 17-29.
61. ROTHMAN, T.P. and GERSHON, M.D. (1984) Regionally defective colonization of the terminal bowel by the precursors of enteric neurons in lethal spotted mutant mice. Neuroscience 12: 1293-311.
62. SAKURAI, T., YANAGISAWA, M. and MASAKI, T. (1992) Molecular characterization of endothelin receptors. Trends Pharmacol Sci 13: 103-8.
63. SHIN, M.K., LEVORSE, J.M., INGRAM, R.S. and TILGHMAN, S.M. (1999) The temporal requirement for endothelin receptor-B signalling during neural crest development. Nature 402: 496-501.
64. SMITH, S.L., DAMATO, B.E., SCHOLES, A.G., NUNN, J., FIELD, J.K. and HEIGHWAY, J. (2002) Decreased endothelin receptor B expression in large primary uveal melanomas is associated with early clinical metastasis and short survival. Br J Cancer 87: 1308-13.
65. STONE, J.G., SPIRLING, L.I. and RICHARDSON, M.K. (1997) The neural crest population responding to endothelin-3 in vitro includes multipotent cells. J Cell Sci 110: 1673-82.
66. SVENSSON, P.J., ANVRET, M., MOLANDER, M.L. and NORDENSKJOLD, A. (1998) Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B). Hum Genet 103: 145-8.
67. SYRRIS, P., CARTER, N.D. and PATTON, M.A. (1999) Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. Am J Med Genet 87: 69-71.
68. TANAKA, H., MOROI, K., IWAI, J., TAKAHASHI, H., OHNUMA, N., HORI, S., TAKIMOTO, M., NISHIYAMA, M., MASAKI, T., YANAGISAWA, M., SEKIYA, S. and KIMURA, S. (1998) Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization. J Biol Chem 273: 11378-83.
69. VERASTEGUI, C., BILLE, K., ORTONNE, J.P. and BALLOTTI, R. (2000) Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. J Biol Chem 275: 30757-60.
70. WATANABE, A., TAKEDA, K., PLOPLIS, B. and TACHIBANA, M. (1998) Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 18, 283-6.
71. WEHRLE-HALLER, B. and WESTON, J.A. (1995) Soluble and cell-bound forms of steel factor activity play distinct roles in melanocyte precursor dispersal and survival on the lateral neural crest migration pathway. Development 121: 731-42.
72. WU, J.J., CHEN, J.X., ROTHMAN, T.P. and GERSHON, M.D. (1999) Inhibition of in vitro enteric neuronal development by endothelin-3: mediation by endothelin B receptors. Development 126: 1161-73.
73. YANAGISAWA, H., YANAGISAWA, M., KAPUR, R.P., RICHARDSON, J.A., WILLIAMS, S.C., CLOUTHIER, D.E., DE WIT, D., EMOTO, N. and HAMMER, R.E. (1998) Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. Development 125: 825-36.
74. YANG, G.C., CROAKER, D., ZHANG, A.L., MANGLICK, P., CARTMILL, T. and CASS, D. (1998) A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease. Hum Mol Genet 7: 1047-52.
75. YOHN, J.J., SMITH, C., STEVENS, T., HOFFMAN, T.A., MORELLI, J.G., HURT, D.L., YANAGISAWA, M., KANE, M.A. and ZAMORA, M.R. (1994) Human melanoma cells express functional endothelin-1 receptors. Biochem Biophys Res Commun 201: 449-57.
76. ZENG, Z., SU, K., KYAW, H. and LI, Y. (1997) A novel endothelin receptor type-B-like gene enriched in the brain. Biochem Biophys Res Commun 233: 559-67.
77. ZHANG, Y.F., JEFFERY, S., BURCHILL, S.A., BERRY, P.A., KASKI, J.C. and CARTER, N.D. (1998) Truncated human endothelin receptor A produced by alternative splicing and its expression in melanoma. Br J Cancer 78: 1141-6.