Point mutations in either subunit of the GABAB receptor confer constitutive activity to the heterodimer

Mol Pharmacol. 2006 Oct;70(4):1406-13. doi: 10.1124/mol.106.024463. Epub 2006 Jul 17.

Abstract

The GABA receptor (GABABR) is a class C G protein-coupled receptor (GPCR) that functions as an obligate heterodimer, composed of two heptahelical subunits, GABABR subunit 1 (R1) and GABABR subunit 2 (R2). In this study, we generated and pharmacologically characterized constitutively active GABABR mutants as novel tools to explore the molecular mechanisms underlying receptor function. A single amino acid substitution, T290K, in the R1 agonist binding domain results in ligand-independent signaling when this mutant subunit is coexpressed with wild-type R2. Introduction of a Y690V mutation in the putative G protein-coupling domain of R2 is sufficient to confer moderate constitutive activity when this subunit is expressed alone. Activity of the Y690V mutant can be markedly enhanced with coexpression of wild-type R1. Coexpression of both mutant subunits (R1-T290K and R2-Y690K) leads to a further increase in basal signaling. Potencies of the full agonists R-(+)-beta-(aminomethyl)-4-chlorobenzenepropanoic acid hydrochloride (baclofen) and GABA are increased at the constitutively active versus the corresponding wild-type receptors. The mutant GABABR variants provided a sensitive probe enabling detection of inverse or partial agonist activity of molecules previously considered neutral antagonists. Our studies using constitutively active isoforms provide independent support for a model of GABABR function that takes into account 1) ligand binding by R1, 2) signal transduction by R2, and 3) modulation of R2-induced function by R1. Furthermore, we demonstrate that certain hallmark features of constitutive activity as originally established with class A GPCRs (e.g., enhanced agonist potency and affinity), are more generally applicable, as suggested by our finding with a class C heterodimeric receptor.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Amino Acid Substitution
  • Animals
  • Baclofen / pharmacology*
  • COS Cells
  • Cell Line
  • Chlorocebus aethiops
  • Cloning, Molecular
  • GABA Agonists / pharmacology*
  • GABA-B Receptor Antagonists
  • Humans
  • Mice
  • Models, Biological
  • Molecular Structure
  • Point Mutation*
  • Protein Isoforms
  • Radioligand Assay
  • Receptors, GABA-B / analysis
  • Receptors, GABA-B / genetics*
  • Receptors, GABA-B / physiology*
  • Signal Transduction
  • Transfection

Substances

  • GABA Agonists
  • GABA-B Receptor Antagonists
  • Protein Isoforms
  • Receptors, GABA-B
  • Baclofen