Yoshikai Y, Clark S P, Taylor S, Sohn U, Wilson B I, Minden M D, Mak T W
Nature. 1985;316(6031):837-40. doi: 10.1038/316837a0.
An essential property of the immune system is its ability to generate great diversity in antibody and T-cell immune responses. The genetic and molecular mechanisms responsible for the generation of antibody diversity have been investigated during the past several years. The gene for the variable (V) region, which determines antigen specificity, is assembled when one member of each of the dispersed clusters of V gene segments, diversity (D) elements (for heavy chains only) and joining (J) segments are fused by DNA rearrangement. The cloning of the beta-chain of the T-cell antigen receptor revealed that the organization of the beta-chain locus, which is similar to that of immunoglobulin genes, is also composed of noncontiguous segments of V, D, J and constant (C) region genes. The structure of the alpha-chain seems to consist of a V and a C domain connected by a J segment. We report here that the human T-cell receptor alpha-chain gene consists of a number of noncontiguous V and J gene segments and a C region gene. The V region gene segment is interrupted by a single intron, whereas the C region contains four exons. The J segments, situated 5' of the C region gene, are dispersed over a distance of at least 35 kilobases (kb). Signal sequences, which are presumably involved in DNA recombination, are found next to the V and J gene segments.
免疫系统的一个基本特性是其在抗体和T细胞免疫反应中产生巨大多样性的能力。在过去几年中，人们对负责产生抗体多样性的遗传和分子机制进行了研究。决定抗原特异性的可变（V）区基因，是在V基因片段、多样性（D）元件（仅针对重链）和连接（J）片段的分散簇中的每一个成员通过DNA重排融合时组装而成的。T细胞抗原受体β链的克隆表明，β链基因座的组织与免疫球蛋白基因相似，也由V、D、J和恒定（C）区基因的不连续片段组成。α链的结构似乎由一个通过J片段连接的V结构域和一个C结构域组成。我们在此报告，人类T细胞受体α链基因由许多不连续的V和J基因片段以及一个C区基因组成。V区基因片段被一个内含子打断，而C区包含四个外显子。位于C区基因5'端的J片段分散在至少35千碱基（kb）的距离上。在V和J基因片段旁边发现了可能参与DNA重组的信号序列。
