Genetic control of the human Vβ13.2 T cell repertoire: importance of allelic variation outside the coding regions of the TCRBV13S2 gene

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Abstract
In humans, the T cell repertoire is influenced by HLA, T cell receptor null alleles and antigen. Here, we describe a novel mechanism, independent of superantigen or T cell receptor structure which influences the T cell repertoire in a Vβ‐dependent manner. We have identified a biallelic locus, the TCRBV13S2 T cell receptor gene, where allelic differences predominate in the non‐coding regions including transitions, transversions and frameshift deletions. The expressed protein is non‐polymorphic at this locus. The TCRBV13S2 genotype profoundly influences the circulating levels of Vβ13.2 CD4 T cells but does not affect T cell receptor expression or function.