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. 1993 May 15;90(10):4369–4373. doi: 10.1073/pnas.90.10.4369

Reduced expression of a human V beta 6.1 T-cell receptor allele.

L Luyrink 1, C A Gabriel 1, S D Thompson 1, A A Grom 1, W P Maksymowych 1, E Choi 1, D N Glass 1
PMCID: PMC46512  PMID: 8506275

Abstract

We have previously described an allelic polymorphism in the V beta 6.1 T-cell receptor gene. The V beta 6.1B allele is associated with disease in a subgroup of patients with juvenile rheumatoid arthritis. Limited sequence data demonstrated nucleotide differences that resulted in two amino acid changes between the two alleles in positions predicted to be important in major histocompatibility complex/antigen recognition. The present study demonstrates substantially reduced expression of mRNA from the disease-associated allele (V beta 6.1B) in peripheral blood and thymic tissue. The complete genomic sequence of both alleles revealed two additional amino acid changes in the V beta 6.1B gene as well as nucleotide differences in the promoter and intron. A cysteine-to-arginine substitution at position 92 in the disease-associated allele makes this a non-functional beta chain, since this conserved cysteine is involved with disulfide bonding to cysteine-23 to form an immunoglobulin-like domain structure, thus resulting in a potential hole in the T-cell receptor repertoire.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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