Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway

Proc Natl Acad Sci U S A. 2003 Nov 11;100(23):13501-6. doi: 10.1073/pnas.2135380100. Epub 2003 Oct 31.

Abstract

Pyrin, the familial Mediterranean fever protein, is found in association with the cytoskeleton in myeloid/monocytic cells and modulates IL-1beta processing, NF-kappaB activation, and apoptosis. These effects are mediated in part through cognate interactions with the adaptor protein ASC, which shares an N-terminal motif with pyrin. We sought additional upstream regulators of inflammation by using pyrin as the bait in yeast two-hybrid assays. We now show that proline serine threonine phosphatase-interacting protein [PSTPIP1, or CD2-binding protein 1 (CD2BP1)], a tyrosine-phosphorylated protein involved in cytoskeletal organization, also interacts with pyrin. Recently, PSTPIP1/CD2BP1 mutations were shown to cause the syndrome of pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA), a dominantly inherited autoinflammatory disorder mediated predominantly by granulocytes. Endogenous PSTPIP1/CD2BP1 and pyrin are coexpressed in monocytes and granulocytes and can be coimmunoprecipitated from THP-1 cells. The B box segment of pyrin was necessary and the B box/coiled-coil segment sufficient for this interaction, whereas the SH3 and coiled-coil domains of PSTPIP1/CD2BP1 were both necessary, but neither was sufficient, for pyrin binding. The Y344F PSTPIP1/CD2BP1 mutation, which blocks tyrosine phosphorylation, was associated with a marked reduction in pyrin binding in pervanadate-treated cells. PAPA-associated A230T and E250Q PSTPIP1/CD2BP1 mutations markedly increased pyrin binding as assayed by immunoprecipitation and, relative to WT, these mutants were hyperphosphorylated when coexpressed with c-Abl kinase. Consistent with the hypothesis that these mutations exert a dominant-negative effect on the previously reported activity of pyrin, we found increased IL-1beta production by peripheral blood leukocytes from a clinically active PAPA patient with the A230T PSTPIP1/CD2BP1 mutation and in cell lines transfected with both PAPA-associated mutants.

MeSH terms

  • Cell Cycle Proteins / chemistry
  • Cell Cycle Proteins / metabolism*
  • Cell Line
  • Cytoskeletal Proteins
  • Familial Mediterranean Fever / genetics*
  • GTP-Binding Proteins / chemistry
  • GTP-Binding Proteins / metabolism*
  • Glutathione Transferase / metabolism
  • Granulocytes / metabolism
  • HeLa Cells
  • Humans
  • Inflammation
  • Interleukin-1 / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Microscopy, Fluorescence
  • Monocytes / metabolism
  • Mutation
  • Phosphorylation
  • Plasmids / metabolism
  • Precipitin Tests
  • Protein Binding
  • Protein Structure, Tertiary
  • Proteins / chemistry
  • Proteins / metabolism*
  • Proto-Oncogene Proteins c-abl / metabolism
  • Pyrin
  • Syndrome
  • Transfection
  • Two-Hybrid System Techniques
  • Tyrosine / metabolism
  • src Homology Domains

Substances

  • CDC15 protein
  • Cell Cycle Proteins
  • Cytoskeletal Proteins
  • Interleukin-1
  • MEFV protein, human
  • Proteins
  • Pyrin
  • Tyrosine
  • Glutathione Transferase
  • Proto-Oncogene Proteins c-abl
  • GTP-Binding Proteins