Possible deletion of a developmentally regulated heavy-chain variable region gene in autoimmune diseases
- Research Institute of Scripps Clinic, La Jolla, CA (USA)
- Vanderbilt Univ., Nashville, TN (USA)
- Univ. of Toronto (Canada)
Several autoantibody-associated variable region (V) genes are preferentially expressed during early ontogenic development, suggesting strongly that they are of developmental and physiological importance. As such, it is possible that polymorphisms in one or more of these genes may alter susceptibility to autoimmune disease. The authors have searched extensively for a probe related to a developmentally regulated V gene that has the power to differentiate among highly homologous V genes in human populations. Using such a probe (i.e., Humhv3005/P1) related to both anti-DNA and anti-IgG autoantibodies, they studied restriction fragment length polymorphisms in patients with rheumatoid arthritis and systemic lupus erythematosus and found an apparent heavy-chain V (V{sub H}) gene deletion that was nearly restricted to the autoimmune patients. These data suggest that deletions of physiologically important V{sub H} genes may increase the risk of autoimmunity through indirect effects on the development and homeostasis of the B-cell repertoire.
- OSTI ID:
- 5545366
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 87:20; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
Similar Records
An intrinsic B cell defect is required for the production of autoantibodies in the lpr model of murine systemic autoimmunity
Detection of anti-liver cell membrane antibody using a human hepatocellular carcinoma cell line