Functional interaction of the ankylosing spondylitis-associated endoplasmic reticulum aminopeptidase 1 polymorphism and HLA-B27 in vivo

Mol Cell Proteomics. 2012 Nov;11(11):1416-29. doi: 10.1074/mcp.M112.019588. Epub 2012 Aug 23.

Abstract

The association of ERAP1 with ankylosing spondylitis (AS)1 among HLA-B27-positive individuals suggests that ERAP1 polymorphism may affect pathogenesis by altering peptide-dependent features of the HLA-B27 molecule. Comparisons of HLA-B*27:04-bound peptidomes from cells expressing different natural variants of ERAP1 revealed significant differences in the size, length, and amount of many ligands, as well as in HLA-B27 stability. Peptide analyses suggested that the mechanism of ERAP1/HLA-B27 interaction is a variant-dependent alteration in the balance between epitope generation and destruction determined by the susceptibility of N-terminal flanking and P1 residues to trimming. ERAP1 polymorphism associated with AS susceptibility ensured efficient peptide trimming and high HLA-B27 stability. Protective polymorphism resulted in diminished ERAP1 activity, less efficient trimming, suboptimal HLA-B27 peptidomes, and decreased molecular stability. This study demonstrates that natural ERAP1 polymorphism affects HLA-B27 antigen presentation and stability in vivo and proposes a mechanism for the interaction between these molecules in AS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Aminopeptidases / chemistry
  • Aminopeptidases / genetics*
  • Aminopeptidases / metabolism*
  • Automation
  • Cell Line
  • Genetic Predisposition to Disease*
  • HLA-B27 Antigen / metabolism*
  • Humans
  • Ligands
  • Minor Histocompatibility Antigens
  • Molecular Weight
  • Peptides / chemistry
  • Peptides / metabolism
  • Polymorphism, Single Nucleotide / genetics*
  • Protein Binding
  • Protein Stability
  • Spondylitis, Ankylosing / enzymology*
  • Spondylitis, Ankylosing / genetics*
  • Temperature

Substances

  • HLA-B27 Antigen
  • Ligands
  • Minor Histocompatibility Antigens
  • Peptides
  • Aminopeptidases
  • ERAP1 protein, human
  • ERAP2 protein, human