GENETIC-CONTROL OF THE HUMAN V-BETA-13.2 T-CELL REPERTOIRE - IMPORTANCE OF ALLELIC VARIATION OUTSIDE THE CODING REGIONS OF THE TCRBV13S2 GENE

In humans, the T cell repertoire is influenced by HLA, T cell receptor null alleles and antigen. Here, we describe a novel mechanism, indepe ndent of superantigen or T cell receptor structure which influences th e T cell repertoire in a V beta-dependent manner. We have identified a biallelic locus, the TCRBV13S2 T cell receptor gene, where allelic di fferences 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 influence s the circulating levels of V beta 13.2 CD4 T cells but does not affec t T cell receptor expression or function.