Structural and regulatory diversity shape HLA-C protein expression levels

Nat Commun. 2017 Jun 26:8:15924. doi: 10.1038/ncomms15924.

Abstract

Expression of HLA-C varies widely across individuals in an allele-specific manner. This variation in expression can influence efficacy of the immune response, as shown for infectious and autoimmune diseases. MicroRNA binding partially influences differential HLA-C expression, but the additional contributing factors have remained undetermined. Here we use functional and structural analyses to demonstrate that HLA-C expression is modulated not just at the RNA level, but also at the protein level. Specifically, we show that variation in exons 2 and 3, which encode the α1/α2 domains, drives differential expression of HLA-C allomorphs at the cell surface by influencing the structure of the peptide-binding cleft and the diversity of peptides bound by the HLA-C molecules. Together with a phylogenetic analysis, these results highlight the diversity and long-term balancing selection of regulatory factors that modulate HLA-C expression.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Exons
  • Gene Expression Regulation
  • Genetic Variation
  • HLA-C Antigens / chemistry*
  • HLA-C Antigens / genetics*
  • HLA-C Antigens / metabolism
  • Humans
  • Mammals / classification
  • Mammals / genetics
  • Pan troglodytes
  • Peptides / chemistry
  • Peptides / genetics
  • Peptides / metabolism
  • Phylogeny
  • Promoter Regions, Genetic
  • Protein Binding

Substances

  • HLA-C Antigens
  • Peptides