Advertisement

The Melanocortin-2 Receptor in Normal Adrenocortical Function and Familial Adrenocorticotropic Hormone Resistance

  • Adrian J. L. Clark
Chapter
Part of the The Receptors book series (REC)

Abstract

The physiologic role of adrenocorticotropic hormone (ACTH) and its part in the pituitary—adrenal axis is one of the most intensively studied systems in endocrinology. ACTH was one of the first hormones that was found to stimulate cAMP production by the adrenal gland (1), and the notion that this effect was mediated via a specific cell surface receptor was confirmed by the elegant studies of Lefkowitz and colleagues (2) in work that set a standard for receptor characterization. Nevertheless, progress on the understanding of the ACTH receptor has been relatively slow. It is now clear that the MC2-R is synonymous with the ACTH receptor, and both terms are used in this chapter. In general, the term ACTH receptor is used to describe the functional entity for example, ligand binding to adrenal cells, whereas the term MC2-R is used to describe aspects that can clearly be related to this gene.

Keywords

Adrenal Cell Adrenocortical Cell Melanocortin Receptor ACTH Receptor Congenital Adrenal Hypoplasia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Haynes, R. C. (1958) The activation of adrenal phosphorylase by the adrenocorticotropic hormone. J. Biol. Chem. 233, 1220–1222.PubMedGoogle Scholar
  2. 2.
    Lefkowitz, R. J., Roth, J., Pricer, W., and Pastan, I. (1970) ACTH receptors in the adrenal, specific binding of ACTH-125I and its relation to adenyl cyclase. Proc. Natl. Acad. Sci. U. S. A. 65, 745–752.CrossRefPubMedGoogle Scholar
  3. 3.
    Bernstein, K. E. and Alexander R. W. (1992) Counterpoint, molecular analysis of the angiotensin II receptor. Endocr. Rev. 13, 381–386.PubMedGoogle Scholar
  4. 4.
    Weber, A. Clark, A. J. L., Perry, L.A., Honour. J. W., and Savage, M. O. (1997) Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. Clin. Endocrinol. 46, 431–437.CrossRefGoogle Scholar
  5. 5.
    Robinson, P. M., Comline, R. S., Fowden, A. L., and Silver, M. (1983) Adrenal cortex of fetal lamb, changes after hypophysectomy and effects of synacthen on cytoarchitecture and secretory activity. Q. J. Exp. Physiol. 68, 15–27.PubMedGoogle Scholar
  6. 6.
    Payet, N. and Lehoux, J. G. (1980) A comparative study of the role of vasopressin and ACTH in the regulation of growth and function of rat adrenal glands. J. Steroid Biochem. 12, 461–467.CrossRefPubMedGoogle Scholar
  7. 7.
    Masui, H. and Garren, L. D. (1970) On the mechanism of action of adrenocorticotropic hormone: stimulation of deoxyribonucleic acid polymerase and thymidine kinase activities in adrenal glands. J. Biol. Chem. 245, 2627–2632.PubMedGoogle Scholar
  8. 8.
    Ramachandran, J., Muramoto, K., Kenez-Keri, M., Keri, G., and Buckley, D. I. (1980) Photoaffinity labelling of corticotropin receptors. Proc. Natl. Acad. Sci. U. S. A. 77, 3967–3970.CrossRefPubMedGoogle Scholar
  9. 9.
    Hornsby, P. J. and Gill, G. N. (1977) Hormonal control of adrenocortical cell proliferation. J. Clin. Invest. 60, 342–352.CrossRefPubMedGoogle Scholar
  10. 10.
    Arola, J., Heikkila, P., and Kahri, A. I. (1993) Biphasic effect of ACTH on growth or rat adrenocortical cells in primary culture. Cell Tissue Res. 271, 169–176.CrossRefPubMedGoogle Scholar
  11. 11.
    Estivariz, F. E., Iturriza, F., McClean, C., Hope, J., and Lowry, P. J. (1982) Stimulation of adrenal mitogenesis by N—terminal proopiocortin peptides. Nature 297, 419–422.CrossRefPubMedGoogle Scholar
  12. 12.
    Estivariz, F. E., Morano, M. I., Carino, M., Jackson, S., and Lowry, P. J. (1988) Adrenal regeneration in the rat is mediated by mitogenic N—terminal proopiomelanocortin peptides generated by changes in precursor processing in the anterior pituitary. J. Endocrinol. 116, 207–216.CrossRefPubMedGoogle Scholar
  13. 13.
    Heikkila, P., Arola, J., Salmi, A., and Kahri, A. I. (1995) ACTH—induced c—myc proto—oncogene expression precedes antimitogenic effect during differentiation of fetal rat adrenocortical cells. J. Endocrinol. 145, 379–385.CrossRefPubMedGoogle Scholar
  14. 14.
    Boscaro, M., Sonino, M., Paoletta, A., Rampazzo, A., and Mantero, F. (1988) Evidence for ultra—short loop autoregulation of adrenocorticotropin secretion in man. J. Clin. Endocrinol. Metab. 66, 255–257.CrossRefPubMedGoogle Scholar
  15. 15.
    Calogero, A. E., Gallucci, W. T., Gold, P. W., and Chrousos, G. P. (1988) Multiple feedback regulatory loops upon rat hypothalamic corticotropin—releasing hormone secretion: potential clinical implications. J. Clin. Invest. 82, 767–774.CrossRefPubMedGoogle Scholar
  16. 16.
    Grunfeld, C., Hagman, J., Sabin, E. A., Buckley, D. I., Jones, D. S., and Ramachandran, J. (1985) Characterization of adrenocorticotropin that appears when 3T3—L1 cells differentiateinto adipocytes. Endocrinology 116, 113–117.CrossRefPubMedGoogle Scholar
  17. 17.
    Izawa, T., Mochizuki, T., Komabayashi, T., Suda, K., and Tsuboi, M. (1994) Increase in cytosolic free Cat+ in corticotropin—stimulated white adipocytes. Am. Physiol. 266, E418 — E426.Google Scholar
  18. 18.
    Slominski, A., Ermak, G., and Mihm, M. (1996) ACTH receptor, CYP 11 A 1, CYP17 and CYP21A2 genes are expressed in skin. J. Clin. Endocrinol. Metab. 81, 2746–2749.CrossRefPubMedGoogle Scholar
  19. 19.
    Clarke, B. L. and Bost, K. L. (1989) Differential expression of functional adrenocorticotropic hormone by subpopulations of lymphocytes. J. Immunol. 143, 464–469.PubMedGoogle Scholar
  20. 20.
    Lowry, P. J., McMartin, C., and Peters, J. (1973) Properties of a simplified bioassay for adrenocorticotropic activity using the steroidogenic response of isolated adrenal cells. J. Endocrinol. 59, 43–55.CrossRefPubMedGoogle Scholar
  21. 21.
    Rae, P. A. and Schimmer, B. P. (1974) Iodinated derivatives of adrenocorticotropic hormone. J. Biol. Chem. 249, 5649–5653.PubMedGoogle Scholar
  22. 22.
    Buckley, D. I., Yamashiro, D., and Ramachandran, J. (1981) Synthesis of a corticotropin analogue that retains full biological activity after iodination. Endocrinology 109, 5–9.CrossRefPubMedGoogle Scholar
  23. 23.
    Penhoat, A., Jaillard, C., and Saez, J. M. (1989) Corticotropin positively regulates its own receptors and cAMP response in cultured bovine adrenal cells. Proc. Natl. Acad. Sci. U. S. A. 86, 4978–4981.CrossRefPubMedGoogle Scholar
  24. 24.
    Darbeida, H. and Durand, P. (1990) Mechanism of glucocorticoid enhancement of the responsiveness of ovine adrenocortical cells to adrenocorticotropin. Biochem. Biophys. Res. Commun. 166, 1183–1191.CrossRefPubMedGoogle Scholar
  25. 25.
    Lebrethon, M. C., Naville, D., Begeot, M., and Saez, J. M. (1994a) Regulation of corticotropin receptor number and messenger RNA in cultured human adrenocortical cells by corticotropin and angiotensin II. J. Clin. Invest 93, 1828–1833.CrossRefPubMedGoogle Scholar
  26. 26.
    Yasumura, Y., Bunonassissi, V., and Sato, G. (1966) Clonal analysis of differentiated function in animal cell cultures. I. Possible correlated maintenance of differentiated function and the diploid karyotype. Cancer Res. 26, 529–535.PubMedGoogle Scholar
  27. 27.
    Schioth, H. B., Chhajlani, V., Muceniece, R., Klusa, V., and Wikberg, J. E. S. (1996) Major pharmacological distinction of the ACTH receptor from other melanocortin receptors. Life Sci. 59, 797–801.CrossRefPubMedGoogle Scholar
  28. 28.
    Rae, P. A., Gutmann, N. S., Tsao, J., and Schimmer, B. P. (1979) Mutations in cyclic AMP—dependent protein kinase and corticotropin (ACTH)—sensitive adenylate cyclase affect adrenal steroidogenesis. Proc. Natl. Acad. Sci. U. S. A. 76, 1896–1900.CrossRefPubMedGoogle Scholar
  29. 29.
    Wong, M., Krolczyk, A. J., and Schimmer, B. P. (1992) The causal relationship between mutations in cAMP—dependent protein kinase and the loss of adrenocorticotropin—regulated adrenocortical functions. Mol. Endocrinol. 6, 1614–1624.CrossRefPubMedGoogle Scholar
  30. 30.
    Waterman, M. R. and Bischof, L. J. (1996) Mechanisms of ACTH (cAMP)—dependent transcription of adrenal steroid hydroxylases. Endocr. Res. 22, 615–620.PubMedGoogle Scholar
  31. 31.
    Munari-Silem, Y., Lebrethon, M. C., Morand, I., Rousset, B., and Saez, J. M. (1995) Gap junction—mediated cell—to—cell communication in bovine and human adrenal cells: a process whereby cells increase their responsiveness to physiological corticotropin concentrations. J. Clin. Invest. 95, 1429–1439.CrossRefPubMedGoogle Scholar
  32. 32.
    Kojima, I., Kojima, K., and Rasmussen, H. (1985) Role of calcium and cAMP in the action of adrenocorticotropin on aldosterone secretion. J. Biol. Chem. 260, 4248–4256.PubMedGoogle Scholar
  33. 33.
    Enyeart, J. J., Mlinar, B., and Enyeart, J. A. (1993) T—type Ca’ channels are required for adrenocorticotropin—stimulated cortisol production by bovine adrenal zona fasciculata cells. Mol. Endocrinol. 7, 1031–1040.CrossRefPubMedGoogle Scholar
  34. 34.
    Coyne, M. D., Wang, G., and Lemos, J. R. (1996) Calcium channels do not play a role in the steroid response to ACTH in Y1 adrenocortical cells. Endocr. Res. 22, 551–556.PubMedGoogle Scholar
  35. 35.
    Seelig, S. and Sayers, G. (1973) Isolated adrenal cortex cells, ACTH agonists, partial agonists, antagonists; cyclic AMP and corticosterone production. Arch. Biochem. Biophys. 154, 230–239.CrossRefPubMedGoogle Scholar
  36. 36.
    Goverde, H. J. M. and Smals, A. G. H. (1984) The anomalous effect of some ACTH—fragments missing the amino acid sequence 1–10 on the corticosteroidogenesis in purified isolated rat adrenals. FEBS Lett. 173, 23–26.CrossRefPubMedGoogle Scholar
  37. 37.
    Schyzer, R., Schiller, P., Seelig, S., and Sayers, G. (1971) Isolated adrenal cells: log dose response curves for steroidogenesis induced by ACTH1–24, ACTH1–10, ACTH4–10 and ACTH5–10. FEBS Lett. 19, 229–231.CrossRefGoogle Scholar
  38. 38.
    Seelig, S., Sayers, G., Schyzer, R., and Schiller, P. (1971) Isolated adrenal cells, ACTH11 24, a competitive antagonist of ACTHI-39 and ACTH 1–10. FEBS Lett. 19, 232–234.CrossRefPubMedGoogle Scholar
  39. 39.
    Bristow, A. F., Gleed, C., Fauchere, J-L., Schwyzer, R., and Schulster, D. (1980) Effects of ACTH (corticotropin) analogues on steroidogenesis and cyclic AMP in rat adrenocortical cells. Biochem. J. 186, 599–603.PubMedGoogle Scholar
  40. 40.
    Finn, F. M., Johns, P. A., Nishi, N., and Hoffman, K. (1976) Differential response to adrenocorticotropic hormone analogs of bovine adrenal plasma membranes and cells. J. Biol. Chem. 251, 3576–3585.PubMedGoogle Scholar
  41. 41.
    Szalay, K. S., De Wied, D., and Stary, E. (1989) Effects of ACTH—(11–24) on the corticosteroid production of isolated adrenocortical cells. J. Steroid Biochem. 32, 259–262.CrossRefPubMedGoogle Scholar
  42. 42.
    Hoffman, K., Stehle, C. J., and Finn, F. M. (1988) identification of a protein in adrenal particulates that binds adrenocorticotropin specifically and with high affinity. Endocrinology 123, 1355–1363.Google Scholar
  43. 43.
    Penhoat, A., Jaillard, C., and Saez, J. M. (1993) Identification and characterization of corticotropin receptors in bovine and human adrenals. J. Steroid Biochem. Mol. Biol. 44, 21–27.CrossRefPubMedGoogle Scholar
  44. 44.
    Bost, K. L., Smith, E. M., and Blalock, J. E. (1985) Similarity between the corticotropin (ACTH) receptor and a peptide encoded by an RNA that is complementary to ACTH mRNA. 82, 1372–1375.Google Scholar
  45. 45.
    Mertz, L. M. and Catt, K. J. (1991) Adrenocorticotropin receptors: functional expression from rat adrenal mRNA in Xenopus laevis oocytes. Proc. Natl. Acad. Sci. U. S. A. 88, 8525–8529.CrossRefPubMedGoogle Scholar
  46. 46.
    Mountjoy, K. G., Robbins, L. S., Mortrud, M. T., and Cone, R. D. (1992) The cloning of a family of genes that encode melanocortin receptors. Science 257, 1248–1251.CrossRefPubMedGoogle Scholar
  47. 47.
    Raikhinstein, M., Zohar, M., and Hanukoglu, I. (1994) cDNA cloning and sequence analysis of the bovine adrenocorticotropic hormone (ACTH) receptor. Biochem. Biophys. Acta 1220, 329–332.Google Scholar
  48. 48.
    Cammas, F. M., Kapas, S., Barker, S., and Clark, A. J. L. (1995) Cloning, characterisation and expression of a functional mouse ACTH receptor. Biochem. Biophys. Res. Commun. 212, 912–918.CrossRefPubMedGoogle Scholar
  49. 49.
    Xia, Y. and Wikberg, J. E. S. (1996) Localization of ACTH receptor messenger RNA by in situ hybridization in mouse adrenal gland. Cell Tissue Res. 286, 63–68.CrossRefPubMedGoogle Scholar
  50. 50.
    Cammas, F. M., Pullinger, G. D., Barker, S., and Clark, A. J. L. (1997) The mouse adrenocorticotropin receptor gene, characterization of its promoter and evidence for a role for the orphan nuclear receptor steroidogenic factor 1. Mol. Endocrinol. 11, 867–876.CrossRefPubMedGoogle Scholar
  51. 51.
    Shimizu, C., Kubo, M., Saeki, T., Matsumura, T., Ishizuka, T., Kijima, H., Kakinuma, M., and Koike, T. (1997) Genomic organization of the mouse adrenocorticotropin receptor. Gene 188, 17–21.CrossRefPubMedGoogle Scholar
  52. 52.
    Naville, D., Jaillard, C., Barjhoux, L., Durand, P., and Begeot, M. (1997) Genomic structure and promoter characterization of the human ACTH receptor gene. Biochem. Biophys. Res. Commun. 230, 7–12.CrossRefPubMedGoogle Scholar
  53. 53.
    Mountjoy, K. G., Bird, I. M., Rainey, W. E., and Cone, R. D. (1994) ACTH induces upregulation of ACTH receptor mRNA in mouse and human adrenocortical cell lines. Mol. Cell. Endocrinol. 99, R17 - R20.Google Scholar
  54. 54.
    Lebrethon, M. C., Jaillard, C., Naville, D., Begeot, M., and Saez, J. M. (1994) Effects of transforming growth factor-beta 1 on human adrenocortical fasciculatareticularis cell differentiated functions. J. Clin. Endocrinol. Metab. 79, 1033–1039.CrossRefPubMedGoogle Scholar
  55. 55.
    Penhoat, A., Jaillard, C., Begeot, M., Durand, P., and Saez, J. M. (1996) Cycloheximide enhances ACTH-receptor messenger RNA through transcriptional and post-transcriptional mechanisms in bovine adrenocortical cells. Mol. Cell. Endocrinol. 121, 57–63.CrossRefPubMedGoogle Scholar
  56. 56.
    Weber, A., Kapas, S., Hinson, J., Grant, D. B., Grossman, A., and Clark, A. J. L. (1993) Functional characterization of the cloned human ACTH receptor, impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency. Biochem. Biophys. Res. Commun. 197, 172–178.CrossRefPubMedGoogle Scholar
  57. 57.
    Naville, D., Barjhoux, L., Jaillard, C., Faury, D., Despert, F., Esteva, B., Durand, P., Saez, J. M., and Begeot, M. (1996) Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. J. Clin. Endocrinol. Metab. 81, 1442–1448.CrossRefPubMedGoogle Scholar
  58. 58.
    Kapas, S., Cammas, F. M., Hinson, J. P., and Clark, A. J. L. (1996) Agonist and receptor binding properties of adrenocorticotropin peptides using the cloned mouse adrenocorticotropin receptor expressed in a stably transfected HeLa cell line. Endocrinology 137, 3291–3294.CrossRefPubMedGoogle Scholar
  59. 59.
    Schimmer, B. P., Kwan, W. K., Tsao, J., and Qiu, R. (1995) Adrenocorticotropinresistant mutants of the Y1 adrenal cell line fail to express the adrenocorticotropin receptor. J. Cell. Physiol. 163, 164–171.CrossRefPubMedGoogle Scholar
  60. 60.
    Yang, Y.-K Ollmann, M. M., Wilson, B. D., Dickinson, C., Yamada, T., Barsh, G. S., and Gantz, I. (1997) Effect of recombinant agouti—signalling peptide on melanocortin action. Mol. Endocrinol. 11, 274–280.CrossRefPubMedGoogle Scholar
  61. 61.
    Elias, L. L. K., Huebner, A., Metherell, L. A., Canas, A., Warne, G. L., Bitti, M. L. M., Cianfirani, S., Clayton, P. E., Savage, M. O., and Clark, A. J. L. Tall stature in familial glucocorticoid deficiency (submitted).Google Scholar
  62. 62.
    Shepherd, T. H., Landing, B. H., and Mason, D. G. (1959) Familial Addison’s disease. Am. J. Dis. Child. 97, 154–162.Google Scholar
  63. 63.
    Migeon, C. J., Kenny, F. M., Kowarski, A., Snipes, C. A., Spaulding, J. S., Finkelstein, J. W., and Blizzard, R. M. (1968) The syndrome of congenital adrenocortical unresponsiveness to ACTH. report of six cases. Pediatr. Res. 2, 501–513.CrossRefPubMedGoogle Scholar
  64. 64.
    Allgrove, J., Clayden, G. S., Grant, D. B., and Macaulay, J. C. (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1, 1284–1286.CrossRefPubMedGoogle Scholar
  65. 65.
    Weber, A., Wienker, T. F., Jung, M., Easton, D., Dean, H. J., Heinrichs, C., Reis, A., and Clark, A. J. L. (1996) Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum. Mol. Genet. 5, 2061–2066.CrossRefPubMedGoogle Scholar
  66. 66.
    Smith, E. M., Brosnan, P., Meyer, W. J., and Blalock, J. E. (1987) An ACTH receptor on human mononuclear leukocytes, relation to adrenal ACTH—receptor activity. N. Engl. J. Med. 317, 1266–1269.CrossRefPubMedGoogle Scholar
  67. 67.
    Yamaoka, T., Kudo, T., Takuwa, Y., Kawakami, Y., Itakura, M., and Yamashita, K. (1992) Hereditary adrenocortical unresponsiveness to adrenocorticotropin with a postreceptor defect. J. Clin Endocrinol. Metab 75, 270–274.CrossRefPubMedGoogle Scholar
  68. 68.
    Clark, A. J. L., McLoughlin, L., and Grossman, A. (1993) Familial glucocorticoid deficiency caused by a point mutation in the ACTH receptor. Lancet 341, 461–462.CrossRefPubMedGoogle Scholar
  69. 69.
    Tsigos, C., Arai, K., Hung, W., and Chrousos, G. P. (1993) Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J. Clin. Invest. 92, 2458–2461.CrossRefPubMedGoogle Scholar
  70. 70.
    Weber, A., Toppari, J., Harvey, R. D., Klann, R. C., Shaw, N. J., Ricker, A. T., Nanto—Salonen, Bevan, J. S., and Clark, A. J. L. (1995) Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency, relationships with clinical features in four families. J. Clin. Endocrinol. Metab. 80, 65–71.Google Scholar
  71. 71.
    Tsigos, C., Arai, K., Latronico, A. C., DiGeorge, A. M., Rapaport, R., and Chrousos, G. P. (1995) A novel mutation of the adrenocorticotropin receptor (ACTH—R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH—R abnormalities in two families with the triple A syndrome. J. Clin. Endocrinol. Metab. 80, 2186–2189.CrossRefPubMedGoogle Scholar
  72. 72.
    Labbe, O., Desarnaud, F., Eggerickx, D., Vassart, G., and Parmentier, M. (1994) Molecular cloning of a mouse melanocortin 5 receptor gene widely expressed in peripheral tissues. Biochemistry 33, 4543–4549.CrossRefPubMedGoogle Scholar
  73. 73.
    Clark, A. J. L., Cammas, F. M., Watt, A., Kapas, S., and Weber, A. (1997) Familial glucocorticoid deficiency, one syndrome, but more than one gene. J. Mol. Med. 75, 394–399.CrossRefPubMedGoogle Scholar
  74. 74.
    Gantz, I., Tashiro, T., Barcroft, C., Konda, Y., Shimoto, Y., Miwa, H., Glover, T., Munzert, G., and Yamada, T. (1993) Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20g13.2–q13.3 by fluorescent in situ hybridization. Genomics 18, 166–167.CrossRefPubMedGoogle Scholar
  75. 75.
    Magenis, R. E., Smith, L., Nadeau, J. H., Johnson, K. R., Mountjoy, K. G., and Cone, R. D. (1994) Mapping of the ACTH, MSH, and neural (MC3 & MC4) melanocortin receptors in the mouse and human. Mamm. Genome 5, 503–508.CrossRefPubMedGoogle Scholar
  76. 76.
    Weber, A. and Clark, A. J. L. (1994) Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum. Mol. Genet. 3, 585–588.CrossRefPubMedGoogle Scholar
  77. 77.
    Shenker, A., Laue, L., Kosugi, S., Merendino, J. J., Minegishi, T., and Cutler, G. B. (1993) A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365, 652–654.CrossRefPubMedGoogle Scholar
  78. 78.
    Parma, J., Duprez, L., Van Sande, J., Cochaux, P., Gervy, C., Mockel, J., Dumont, J., and Vassart, G. (1993) Somatic mutations in the thyrotropin receptor gene causing hyperfunctioning thyroid adenomas. Nature 365, 649–651.CrossRefPubMedGoogle Scholar
  79. 79.
    Robbins, L. S., Nadeau, J. H., Johnson, K. R., Kelly, M. A., Roselli-Rehfuss, L., Baack, E., Mountjoy, K. G., and Cone, R. D. (1993) Pigmentation phenotypes ofvariant extension locus alleles result from point mutations that alter MSH receptor function. Cell 72, 827–834.CrossRefPubMedGoogle Scholar
  80. 80.
    Latronico, A. C., Reincke, M., Mendonca, B. B., Arai, K., Mora, P., Allolio, B., Wajchenberg, B. L., Chrousos, G. P., and Tsigos, C. (1995) No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenal neoplasms. J. Clin. Endocrinol. Metab. 80, 875–877.CrossRefPubMedGoogle Scholar
  81. 81.
    Light, K., Jenkins, P. J., Weber, A., Perrett, C., Grossman, A., Pistorello, M., Asa, S. L., Clayton, R. N., and Clark, A. J. L. (1995) Are activating mutations of the adrenocorticotropin receptor involved in adrenal cortical neoplasia? Life Sci. 56, 1523–1527.CrossRefPubMedGoogle Scholar
  82. 82.
    Saez, J. M., Dazord, A., Morera, A. M., and Bataille, P. (1975) Interactions of adrenocorticotropic hormone with its adrenal receptors. J. Biol. Chem. 250, 1683–1689.PubMedGoogle Scholar
  83. 83.
    Catalano, R. D., Stuve, L., and Ramachandran, J. (1986) Characterization of corticotropin receptors in human adrenocortical cells. J. Clin. Endocrinol. Metab. 62, 300–304.CrossRefPubMedGoogle Scholar
  84. 84.
    Buckley, D. I. and Ramachandran, J. (1981) Characterization of corticotropin receptors on adrenocortical cells. Proc. Natl. Acad. Sci. U. S. A. 78, 7431–7435.CrossRefPubMedGoogle Scholar
  85. 85.
    Gallo-Payet, and Escher, E. (1985) Adrenocorticotropin receptors in rat adrenal glomerulosa cells. Endocrinology 117, 38–46.CrossRefGoogle Scholar
  86. 86.
    Carsia, R. V. and Weber, H. (1988) Protein malnutrition in the domestic fowl induces alterations in adrenocortical cell adrenocorticotropin receptors. Endocrinology 122, 681–688.CrossRefPubMedGoogle Scholar
  87. 87.
    Wu, S.-M., Stratakis, C. A., Chan, C. H. Y., Hallermeier, K. M. Bourdony, C. J. Rennert, O. M., and Chan, W. Y. (1998) Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: Identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency. Mol Genet. Metab. 64, 256.Google Scholar
  88. 88.
    Chhajlani, V., Muceniece, R., and Wikberg, J. E. S. (1993) Molecular cloning of a novel human melanocortin receptor. Biochem. Biophys. Res. Commun. 195, 866–873.CrossRefPubMedGoogle Scholar
  89. 89.
    Elias, L. L. K., Weber, A., Pullinger, G. D., Mirtella, A., and Clark, A. J. L. (1999) Functional characterization of naturally occuring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype J. Clin. Endocrinol. Metabol. 84, 2766–2770.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2000

Authors and Affiliations

  • Adrian J. L. Clark

There are no affiliations available

Personalised recommendations