A neurodevelopmental disorder mutation locks G proteins in the transitory pre-activated state

Nat Commun. 2024 Aug 5;15(1):6643. doi: 10.1038/s41467-024-50964-z.

Abstract

Many neurotransmitter receptors activate G proteins through exchange of GDP for GTP. The intermediate nucleotide-free state has eluded characterization, due largely to its inherent instability. Here we characterize a G protein variant associated with a rare neurological disorder in humans. GαoK46E has a charge reversal that clashes with the phosphate groups of GDP and GTP. As anticipated, the purified protein binds poorly to guanine nucleotides yet retains wild-type affinity for G protein βγ subunits. In cells with physiological concentrations of nucleotide, GαoK46E forms a stable complex with receptors and Gβγ, impeding effector activation. Further, we demonstrate that the mutant can be easily purified in complex with dopamine-bound D2 receptors, and use cryo-electron microscopy to determine the structure, including both domains of Gαo, without nucleotide or stabilizing nanobodies. These findings reveal the molecular basis for the first committed step of G protein activation, establish a mechanistic basis for a neurological disorder, provide a simplified strategy to determine receptor-G protein structures, and a method to detect high affinity agonist binding in cells.

MeSH terms

  • Cryoelectron Microscopy*
  • GTP-Binding Protein alpha Subunits, Gi-Go / chemistry
  • GTP-Binding Protein alpha Subunits, Gi-Go / genetics
  • GTP-Binding Protein alpha Subunits, Gi-Go / metabolism
  • GTP-Binding Protein gamma Subunits / genetics
  • GTP-Binding Protein gamma Subunits / metabolism
  • GTP-Binding Proteins / genetics
  • GTP-Binding Proteins / metabolism
  • Guanosine Diphosphate* / metabolism
  • Guanosine Triphosphate* / metabolism
  • HEK293 Cells
  • Humans
  • Mutation*
  • Neurodevelopmental Disorders / genetics
  • Neurodevelopmental Disorders / metabolism
  • Protein Binding
  • Receptors, Dopamine D2 / genetics
  • Receptors, Dopamine D2 / metabolism

Substances

  • Guanosine Diphosphate
  • Guanosine Triphosphate
  • Receptors, Dopamine D2
  • GTP-Binding Protein alpha Subunits, Gi-Go
  • GTP-Binding Proteins
  • GTP-Binding Protein gamma Subunits

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