KIR2DS4 is a product of gene conversion with KIR3DL2 that introduced specificity for HLA-A*11 while diminishing avidity for HLA-C

J Exp Med. 2009 Oct 26;206(11):2557-72. doi: 10.1084/jem.20091010.

Abstract

Human killer cell immunoglobulin-like receptors (KIRs) are distinguished by expansion of activating KIR2DS, whose ligands and functions remain poorly understood. The oldest, most prevalent KIR2DS is KIR2DS4, which is represented by a variable balance between "full-length" and "deleted" forms. We find that full-length 2DS4 is a human histocompatibility leukocyte antigen (HLA) class I receptor that binds specifically to subsets of C1+ and C2+ HLA-C and to HLA-A*11, whereas deleted 2DS4 is nonfunctional. Activation of 2DS4+ NKL cells was achieved with A*1102 as ligand, which differs from A*1101 by unique substitution of lysine 19 for glutamate, but not with A*1101 or HLA-C. Distinguishing KIR2DS4 from other KIR2DS is the proline-valine motif at positions 71-72, which is shared with KIR3DL2 and was introduced by gene conversion before separation of the human and chimpanzee lineages. Site-directed swap mutagenesis shows that these two residues are largely responsible for the unique HLA class I specificity of KIR2DS4. Determination of the crystallographic structure of KIR2DS4 shows two major differences from KIR2DL: displacement of contact loop L2 and altered bonding potential because of the substitutions at positions 71 and 72. Correlation between the worldwide distributions of functional KIR2DS4 and HLA-A*11 points to the physiological importance of their mutual interaction.

Publication types

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

MeSH terms

  • Amino Acid Motifs
  • Amino Acid Sequence
  • Amino Acid Substitution / genetics
  • Animals
  • Binding Sites
  • Conserved Sequence
  • Crystallography, X-Ray
  • Evolution, Molecular
  • Gene Conversion*
  • HLA-A Antigens / immunology*
  • HLA-A11 Antigen
  • HLA-C Antigens / immunology*
  • Humans
  • Killer Cells, Natural / immunology
  • Ligands
  • Lymphocyte Activation / immunology
  • Models, Molecular
  • Molecular Sequence Data
  • Mutation / genetics
  • Pan troglodytes / immunology
  • Protein Binding
  • Protein Structure, Secondary
  • Receptors, KIR / chemistry
  • Receptors, KIR / genetics*
  • Receptors, KIR / immunology*
  • Receptors, KIR3DL2 / genetics*
  • Substrate Specificity

Substances

  • HLA-A Antigens
  • HLA-A11 Antigen
  • HLA-C Antigens
  • KIR2DS4 protein, human
  • Ligands
  • Receptors, KIR
  • Receptors, KIR3DL2