An autoimmune disease-associated CTLA-4 splice variant lacking the B7 binding domain signals negatively in T cells

Immunity. 2004 May;20(5):563-75. doi: 10.1016/s1074-7613(04)00110-4.

Abstract

Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) plays a critical role in downregulating T cell responses. A number of autoimmune diseases have shown genetic linkage to the CTLA-4 locus. We have cloned and expressed an alternatively spliced form of CTLA-4 that has genetic linkage with type I diabetes in the NOD mice. This splice variant of CTLA-4, named ligand-independent CTLA-4 (liCTLA-4), lacks exon2 including the MYPPPY motif essential for binding to the costimulatory ligands B7-1 and B7-2. Here we show that liCTLA-4 is expressed as a protein in primary T cells and strongly inhibits T cell responses by binding and dephosphorylating the TcRzeta chain. Expression of liCTLA-4, but not full-length CTLA-4 (flCTLA-4), was higher in memory/regulatory T cells from diabetes-resistant NOD congenic mice compared to susceptible NOD mice. These data suggest that increased expression and negative signaling delivered by the liCTLA-4 may regulate development of T cell-mediated autoimmune diseases.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Antigens, CD
  • Antigens, Differentiation / biosynthesis*
  • Antigens, Differentiation / genetics*
  • Antigens, Differentiation / immunology
  • Autoimmune Diseases
  • B7-1 Antigen / genetics*
  • B7-1 Antigen / immunology
  • Blotting, Western
  • CTLA-4 Antigen
  • Cloning, Molecular
  • Female
  • Flow Cytometry
  • Humans
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Inbred NOD
  • Molecular Sequence Data
  • RNA, Messenger / analysis
  • Receptors, Antigen, T-Cell / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Signal Transduction / immunology
  • T-Lymphocytes / immunology*

Substances

  • Antigens, CD
  • Antigens, Differentiation
  • B7-1 Antigen
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Ctla4 protein, mouse
  • Membrane Proteins
  • RNA, Messenger
  • Receptors, Antigen, T-Cell
  • antigen T cell receptor, zeta chain