Distinct assembly profiles of HLA-B molecules

J Immunol. 2014 Jun 1;192(11):4967-76. doi: 10.4049/jimmunol.1301670. Epub 2014 Apr 30.

Abstract

MHC class I polymorphisms are known to influence outcomes in a number of infectious diseases, cancers, and inflammatory diseases. Human MHC class I H chains are encoded by the HLA-A, HLA-B, and HLA-C genes. These genes are highly polymorphic, with the HLA-B locus being the most variable. Each HLA class I protein binds to a distinct set of peptide Ags, which are presented to CD8(+) T cells. HLA-disease associations have been shown in some cases to link to the peptide-binding characteristics of individual HLA class I molecules. In this study, we show that polymorphisms at the HLA-B locus profoundly influence the assembly characteristics of HLA-B molecules and the stabilities of their peptide-deficient forms. In particular, dependence on the assembly factor tapasin is highly variable, with frequent occurrence of strongly tapasin-dependent or independent allotypes. Several polymorphic HLA-B residues located near the C-terminal end of the peptide are key determinants of tapasin-independent assembly. In vitro refolded forms of tapasin-independent allotypes assemble more readily with peptides compared to tapasin-dependent allotypes that belong to the same supertype, and, during refolding, reduced aggregation of tapasin-independent allotypes is observed. Paradoxically, in HIV-infected individuals, greater tapasin-independent HLA-B assembly confers more rapid progression to death, consistent with previous findings that some HLA-B allotypes shown to be tapasin independent are associated with rapid progression to multiple AIDS outcomes. Together, these findings demonstrate significant variations in the assembly of HLA-B molecules and indicate influences of HLA-B-folding patterns upon infectious disease outcomes.

Publication types

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

MeSH terms

  • Acquired Immunodeficiency Syndrome / genetics
  • Acquired Immunodeficiency Syndrome / immunology
  • Antigen Presentation*
  • Antigens / genetics
  • Antigens / immunology*
  • CD8-Positive T-Lymphocytes / immunology*
  • Cell Line, Tumor
  • Genetic Loci / immunology*
  • HIV-1 / genetics
  • HIV-1 / immunology
  • HLA-B Antigens / genetics
  • HLA-B Antigens / immunology*
  • Humans
  • Membrane Transport Proteins / genetics
  • Membrane Transport Proteins / immunology
  • Peptides / genetics
  • Peptides / immunology*
  • Polymorphism, Genetic / genetics
  • Polymorphism, Genetic / immunology
  • Protein Folding

Substances

  • Antigens
  • HLA-B Antigens
  • Membrane Transport Proteins
  • Peptides
  • tapasin