Functional expression of the human ACTH receptor gene.

The ACTH receptor is the type 2 (MC2R) among the melanocortin receptor family and is expressed almost exclusively in the adrenal cortex. The human MC2R (hMC2R) was very difficult to express in heterologous cell lines. We have succeeded in transient and stable expression of hMC2R using the M3 melanoma cells. Moreover, we have found that the expressed hMC2R in M3 cells showed similar ACTH binding affinity and coupling to adenylate cyclase as the MC2R of normal human adrenal cells, contrarily to most of the other expression cell models. In these conditions, we have been able to test several mutant hMC2R described in patients with the familial glucocorticoid deficiency syndrome (FGD) using this cell line.