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

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

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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Choi, E. Maksymowych, W. P. Luyrink, L. Grom, A. A. Gabriel, C. A. Glass, D. N. Thompson, S. D.
Description	Author Affiliation: Luyrink L ( Division of Rheumatology, Children's Hospital Medical Center, Cincinnati, OH 45229-2899.);
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.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	10
Volume Number	90
Language	English
Publisher	National Academy of Sciences
Publisher Date	1993-07-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Receptors, Antigen, T-Cell, Alpha-beta Genetics Alleles Amino Acid Sequence Arthritis, Juvenile Cloning, Molecular Gene Expression Genes Molecular Sequence Data Oligodeoxyribonucleotides Chemistry Polymerase Chain Reaction Polymorphism, Genetic Promoter Regions, Genetic RNA, Messenger Thymus Gland Metabolism Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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