Possible deletion of a developmentally regulated heavy-chain variable region gene in autoimmune diseases.
Possible deletion of a developmentally regulated heavy-chain variable region gene in autoimmune diseases.
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自身免疫性疾病中发育调控的重链可变区基因可能被删除。
DOI：
10.1073/pnas.87.20.7907
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发表时间：
1990
影响因子：
11.1
通讯作者：
Chen,PP
中科院分区：
文献类型：
--
作者：
Yang,PM;Olsen,NJ;Siminovitch,KA;Olee,T;Kozin,F;Carson,DA;Chen,PP
一些自身抗体相关的可变区(V)基因在早期个体发育过程中优先表达，这强烈表明它们在发育和生理上具有重要意义。因此，一个或多个这些基因的多态性可能会改变对自身免疫性疾病的易感性。我们已经广泛搜索了一种与发育调节的V基因相关的探针，该基因具有在人类群体中高度同源的V基因之间进行区分的能力。使用这种与抗dna和抗igg自身抗体相关的探针（即humhv35 /P1），我们研究了类风湿关节炎和系统性红斑狼疮患者的限制性片段长度多态性，发现明显的重链V （VH）基因缺失几乎仅限于自身免疫性患者。这些数据表明，生理上重要的VH基因的缺失可能通过间接影响b细胞库的发育和稳态来增加自身免疫的风险。
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. We 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, we studied restriction fragment length polymorphisms in patients with rheumatoid arthritis and systemic lupus erythematosus and found an apparent heavy-chain V (VH) gene deletion that was nearly restricted to the autoimmune patients. These data suggest that deletions of physiologically important VH genes may increase the risk of autoimmunity through indirect effects on the development and homeostasis of the B-cell repertoire.
独特型、裁缝和网络。
DOI：
--
发表时间：
1988
期刊：
Annales de l'Institut Pasteur. Immunology
影响因子：
--
作者：
A. Coutinho;A. Grandien;J. Faro;T. Mota
通讯作者：
T. Mota