Germline mutations in a G protein identify signaling cross-talk in T cells

Science. 2024 Sep 20;385(6715):eadd8947. doi: 10.1126/science.add8947. Epub 2024 Sep 20.

Abstract

Humans with monogenic inborn errors responsible for extreme disease phenotypes can reveal essential physiological pathways. We investigated germline mutations in GNAI2, which encodes Gαi2, a key component in heterotrimeric G protein signal transduction usually thought to regulate adenylyl cyclase-mediated cyclic adenosine monophosphate (cAMP) production. Patients with activating Gαi2 mutations had clinical presentations that included impaired immunity. Mutant Gαi2 impaired cell migration and augmented responses to T cell receptor (TCR) stimulation. We found that mutant Gαi2 influenced TCR signaling by sequestering the guanosine triphosphatase (GTPase)-activating protein RASA2, thereby promoting RAS activation and increasing downstream extracellular signal-regulated kinase (ERK)/mitogen-activated protein kinase (MAPK) and phosphatidylinositol 3-kinase (PI3K)-AKT S6 signaling to drive cellular growth and proliferation.

MeSH terms

  • Cell Movement / genetics
  • Cell Proliferation
  • GTP-Binding Protein alpha Subunit, Gi2* / genetics
  • Germ-Line Mutation*
  • Humans
  • Immunity / genetics
  • MAP Kinase Signaling System
  • Pedigree
  • Phosphatidylinositol 3-Kinases / genetics
  • Phosphatidylinositol 3-Kinases / metabolism
  • Proto-Oncogene Proteins c-akt / metabolism
  • Receptors, Antigen, T-Cell* / metabolism
  • Signal Transduction
  • T-Lymphocytes* / immunology
  • T-Lymphocytes* / metabolism
  • ras GTPase-Activating Proteins* / genetics
  • ras Proteins / genetics
  • ras Proteins / metabolism

Substances

  • GNAI2 protein, human
  • GTP-Binding Protein alpha Subunit, Gi2
  • Phosphatidylinositol 3-Kinases
  • Proto-Oncogene Proteins c-akt
  • ras GTPase-Activating Proteins
  • ras Proteins
  • RASA2 protein, human
  • Receptors, Antigen, T-Cell