Missense single nucleotide polymorphisms in the human T cell receptor loci control variable gene usage in the T cell repertoire

Abstract

[Extract] T cells play a central role in immunity as both regulators and effectors of immune function, following recognition of antigenic peptides presented by human leucocyte antigens (HLA) via the αβ T cell receptor (TCR). As such, the genes that encode the TCR have long been considered candidates for disease association. The human TCR is assembled from a total of 174 gene segments on chromosomes 7 and 14. Each α-chain is encoded by a variable (TRAV), a joining and a constant gene, while each β-chain is encoded by a variable (TRBV), a diversity, a joining and a constant gene (Davis & Bjorkman, 1988).