The E92K melanocortin 1 receptor mutant induces cAMP production and arrestin recruitment but not ERK activity indicating biased constitutive signaling

Research output: Contribution to journalJournal articleResearchpeer-review

The melanocortin 1 receptor (MC1R) constitutes a key regulator of melanism. Consequently, many naturally-occurring MC1R mutations are associated with a change in color. An example is the Glu-to-Lys substitution found at position II:20/2.60 in the top of transmembrane helix II which has been identified in melanic mice and several other species. This mutation induces a pronounced increase in MC1R constitutive activity suggesting a link between constitutive activity and melanism which is corroborated by the attenuation of a-melanocyte stimulating hormone (aMSH) induced activation. However, the mechanism by which the mutation induces constitutive activity is currently not known.
Original languageEnglish
JournalP L o S One
Issue number9
Pages (from-to)e24644
Publication statusPublished - 2011

    Research areas

  • Animals, Arrestin, Cell Line, Cyclic AMP, Enzyme-Linked Immunosorbent Assay, Extracellular Signal-Regulated MAP Kinases, Humans, Mice, Microscopy, Confocal, Mutagenesis, Site-Directed, Mutation, Phosphorylation, Receptor, Melanocortin, Type 1, Signal Transduction, alpha-MSH

ID: 38463832