The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

Nature. 1998 Oct 1;395(6701):462-9. doi: 10.1038/26683.

Abstract

In addition to triggering the activation of B- or T-cell antigen receptors, the binding of a ligand to its receptor at the cell surface can sometimes determine the physiological outcome of interactions between antigen-presenting cells, T and B lymphocytes. The protein SLAM (also known as CDw150), which is present on the surface of B and T cells, forms such a receptor-ligand pair as it is a self-ligand. We now show that a T-cell-specific, SLAM-associated protein (SAP), which contains an SH2 domain and a short tall, acts as an inhibitor by blocking recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic region. The gene encoding SAP maps to the same area of the X chromosome as the locus for X-linked lymphoproliferative disease (XLP) and we found mutations in the SAP gene in three XLP patients. Absence of the inhibitor SAP in XLP patients affects T/B-cell interactions induced by SLAM, leading to an inability to control B-cell proliferation caused by Epstein-Barr virus infections.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Antigens, CD
  • B-Lymphocytes / immunology
  • Base Sequence
  • COS Cells
  • Carrier Proteins / genetics*
  • Carrier Proteins / physiology
  • Cells, Cultured
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA
  • Glycoproteins / metabolism*
  • Humans
  • Immunoglobulins / metabolism*
  • Intracellular Signaling Peptides and Proteins*
  • Jurkat Cells
  • Lymphoproliferative Disorders / genetics*
  • Lymphoproliferative Disorders / immunology
  • Lymphoproliferative Disorders / metabolism
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Protein Binding
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-fyn
  • Receptors, Cell Surface
  • Signal Transduction*
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Signaling Lymphocytic Activation Molecule Family Member 1
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism*
  • Tissue Distribution
  • X Chromosome
  • src Homology Domains

Substances

  • Antigens, CD
  • Carrier Proteins
  • Glycoproteins
  • Immunoglobulins
  • Intracellular Signaling Peptides and Proteins
  • Proto-Oncogene Proteins
  • Receptors, Cell Surface
  • SH2D1A protein, human
  • Sh2d1a protein, mouse
  • Signaling Lymphocytic Activation Molecule Associated Protein
  • Signaling Lymphocytic Activation Molecule Family Member 1
  • DNA
  • FYN protein, human
  • Fyn protein, mouse
  • Proto-Oncogene Proteins c-fyn

Associated data

  • GENBANK/AF072903
  • GENBANK/AF072930
  • GENBANK/AF073019