title: Functional characterization of the cloned human ACTH receptor: impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency.
abstract: The putative ACTH receptor gene has been identified on the basis of its tissue specific expression, structure, and limited expression data. We have expressed this gene in COS-7 cells and measured cAMP production in response to ACTH. An EC50 of 5.5 x 10(-9) M for ACTH (1-24) was determined. The S74I mutant ACTH receptor gene that associates with the syndrome of familial glucocorticoid deficiency had an EC50 of 67 x 10(-9) M. This discrepancy is consistent with the clinical data, and supports the hypothesis that this point mutation could account for the syndrome.
authors.affiliation: Department of Endocrinology, St Bartholomew's Hospital Medical College, London, United Kingdom.
authors.forename: A
authors.initials: A
authors.lastname: Weber
authors.forename: S
authors.initials: S
authors.lastname: Kapas
authors.forename: J
authors.initials: J
authors.lastname: Hinson
authors.forename: D B
authors.initials: DB
authors.lastname: Grant
authors.forename: A
authors.initials: A
authors.lastname: Grossman
authors.forename: A J
authors.initials: AJ
authors.lastname: Clark
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000494:pharmacology; D000818:Animals; D015984:Causality; D002478:Cells, Cultured; D003001:Cloning, Molecular; D000242:Cyclic AMP / Q000378:metabolism; D004305:Dose-Response Relationship, Drug; D005938:Glucocorticoids / Q000172:deficiency*; D006801:Humans; D009154:Mutation; D018043:Receptors, Corticotropin / Q000187:drug effects / Q000235:genetics* / Q000378:metabolism; D011994:Recombinant Proteins / Q000378:metabolism
chemical_list: D005938:Glucocorticoids; D018043:Receptors, Corticotropin; D011994:Recombinant Proteins; D000324:Adrenocorticotropic Hormone; D000242:Cyclic AMP