A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling

Sci Signal. 2018 Feb 20;11(518):eaan3714. doi: 10.1126/scisignal.aan3714.

Abstract

The calcium-sensing receptor (CaSR) is a G protein-coupled receptor (GPCR) that signals through Gq/11 and Gi/o to stimulate cytosolic calcium (Ca2+i) and mitogen-activated protein kinase (MAPK) signaling to control extracellular calcium homeostasis. Studies of loss- and gain-of-function CASR mutations, which cause familial hypocalciuric hypercalcemia type 1 (FHH1) and autosomal dominant hypocalcemia type 1 (ADH1), respectively, have revealed that the CaSR signals in a biased manner. Thus, some mutations associated with FHH1 lead to signaling predominantly through the MAPK pathway, whereas mutations associated with ADH1 preferentially enhance Ca2+i responses. We report a previously unidentified ADH1-associated R680G CaSR mutation, which led to the identification of a CaSR structural motif that mediates biased signaling. Expressing CaSRR680G in HEK 293 cells showed that this mutation increased MAPK signaling without altering Ca2+i responses. Moreover, this gain of function in MAPK activity occurred independently of Gq/11 and Gi/o and was mediated instead by a noncanonical pathway involving β-arrestin proteins. Homology modeling and mutagenesis studies showed that the R680G CaSR mutation selectively enhanced β-arrestin signaling by disrupting a salt bridge formed between Arg680 and Glu767, which are located in CaSR transmembrane domain 3 and extracellular loop 2, respectively. Thus, our results demonstrate CaSR signaling through β-arrestin and the importance of the Arg680-Glu767 salt bridge in mediating signaling bias.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Calcium / metabolism
  • Cell Membrane / chemistry
  • Cell Membrane / metabolism*
  • Family Health
  • Female
  • Humans
  • Hypercalciuria / genetics
  • Hypercalciuria / physiopathology*
  • Hypocalcemia / genetics
  • Hypocalcemia / physiopathology*
  • Hypoparathyroidism / congenital*
  • Hypoparathyroidism / genetics
  • Hypoparathyroidism / physiopathology
  • MAP Kinase Signaling System*
  • Male
  • Models, Molecular
  • Mutation*
  • Pedigree
  • Protein Conformation
  • Receptors, Calcium-Sensing / chemistry
  • Receptors, Calcium-Sensing / genetics
  • Receptors, Calcium-Sensing / metabolism*
  • Salts / chemistry
  • Salts / metabolism*
  • Sequence Homology, Amino Acid
  • beta-Arrestins / metabolism*

Substances

  • Receptors, Calcium-Sensing
  • Salts
  • beta-Arrestins
  • Calcium

Supplementary concepts

  • Hypercalciuric Hypocalcemia, Familial