T cell-mediated adaptive immune response is critical to discriminate the myriad of self-peptides from non-self-peptides presented by HLA molecule. Despite the key role of the HLA in protective immunity, HLA class II molecules are frequently correlated with aberrant T cell immunity, including autoimmunity and other immune-mediated inflammatory diseases. For example, HLA-DR4 allomorphs bearing the Shared Susceptibility Epitope (SE) are associated with increased susceptibility to rheumatoid arthritis (RA). The breaking of T cell tolerance can be attributed to several mechanisms, including unusual TCR-HLA docking topologies, altered peptide-binding to HLA molecules, molecular mimicry, and neoepitope generation. For example, certain post-translational modifications (PTM), such as the deamidation of glutamine, peptide trans-splicing, and citrullination, generate neo-epitopes with improved binding to a given HLA molecule. However, the interplay between the HLA molecule, post-translationally modified epitope and the responding T cell repertoire remain unclear.
To understand the molecular basis of the citrullinated self-epitope, HLA-DR4, and CD4 T cell, we synthesized citrullinated fibrinogen peptide, which is found abundantly in joint synovium of RA patient, and investigated structurally their impact on HLA-DR4 recognition. Using HLA-DR4 transgenic mice as a tool, we immunized the mice with single (Fibb-74cit69-81) and double citrullinated (Fibb-72,74cit69-81) fibrinogen b-peptide. Our result led to a population of HLA-DR4Fib b-74cit69-81 tetramer+ T cells that exhibited biased T cell receptor (TCR) b-chain usage, which was attributable to selective clonal expansion from the pre-immune repertoire. Crystal structures of pre- and post-immune TCRs showed that the SE of HLA-DR4 represented a main TCR contact zone. Immunisation with a double-citrullinated epitope (Fibb-72,74cit69-81) altered the responding HLA-DR4 tetramer+ T cell repertoire, which was due to the P2-citrulline residue interacting with the TCR itself. Together, our findings showed that citrullinated epitope revealed dual functionality, in both HLA-DR4 presentation and a direct TCR recognition determinant. In addition, analogous biased TCR b-chain usage towards the Fibb-74cit69-81 peptide was observed in healthy HLA-DR4+ individuals and HLA-DR4+ RA patients, thereby suggesting a link to human RA.