Seidman J G, Leder A, Nau M, Norman B, Leder P
Science. 1978 Oct 6;202(4363):11-7. doi: 10.1126/science.99815.
Three important aspects of immunoglobulin gene organization and structure have emerged from studies of cloned immunoglobulin kappa chain genes. (i) Multiple variable genes are encoded separately in the genome of both immunoglobulin-producing and uncommitted (embryonic) cells, thereby establishing the evolutionary base for generating immunoglobulin diversity. (ii) These genes exist as many small, closely related families (subgroups) that share close sequence homology largely within their own subgroup. (iii) Comparison of two cloned variable gene segments derived from a single subgroup reveals a feature of their structure that distinguishes them from fixed genes (that is, globin genes) and provides, through extensive surrounding sequence homology, a large target for intergenic recombination. This last observation suggests that a simple recombination mechanism may account for their genetic instability in both germ line and somatic cells.
对克隆的免疫球蛋白κ链基因的研究揭示了免疫球蛋白基因组织和结构的三个重要方面。（i）多个可变基因在产生免疫球蛋白的细胞和未分化（胚胎）细胞的基因组中是分开编码的，从而为产生免疫球蛋白多样性奠定了进化基础。（ii）这些基因以许多小的、密切相关的家族（亚组）形式存在，这些家族在很大程度上在其自身亚组内具有紧密的序列同源性。（iii）对来自单个亚组的两个克隆可变基因片段的比较揭示了它们结构的一个特征，该特征将它们与固定基因（即珠蛋白基因）区分开来，并通过广泛的周边序列同源性，为基因间重组提供了一个大的靶点。最后这一观察结果表明，一种简单的重组机制可能解释了它们在种系细胞和体细胞中的遗传不稳定性。
