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人类免疫球蛋白κ基因座。部分重复L区的特征分析。

The human immunoglobulin kappa locus. Characterization of the partially duplicated L regions.

作者信息

Huber C, Huber E, Lautner-Rieske A, Schäble K F, Zachau H G

机构信息

Institut für Physiologische Chemie der Universität München, Germany.

出版信息

Eur J Immunol. 1993 Nov;23(11):2860-7. doi: 10.1002/eji.1830231120.

Abstract

The L regions are parts of the C kappa proximal (p) and distal (d) copies of the human immunoglobulin kappa locus and are therefore called the Lp and Ld regions. The two regions with their 25 V kappa genes and pseudogenes have now been cloned, thus completing the cloning of the kappa locus. Lp has been linked to the neighboring Ap and B regions, while Ld was linked to Ad. There is good evidence that at the other side of Ld, i.e. towards the centromere, the end of the locus has been reached. Most of the cloning and linking was achieved by chromosomal walking, employing cosmid and phage lambda clones. No such clones could be found for three small gaps. Two of them were closed by a polymerase chain reaction strategy; the third one was characterized by genomic blot hybridization experiments and eventually bridged by a yeast artificial chromosome clone. Early in evolution, a stretch of about 25 kb which comprised three V kappa genes near the 5' end of the L region precursor must have been duplicated, such that the later duplication of large parts of the kappa locus resulted in the appearance of two very similar three-gene regions in each, Lp and Ld. Two deletions in the central parts of the L regions, on the other hand, must have occurred after the duplication of the locus, since they are found in Lp and Ld in different positions.

摘要

L区域是人类免疫球蛋白κ基因座近端(p)和远端(d)拷贝的一部分,因此被称为Lp和Ld区域。包含25个Vκ基因和假基因的这两个区域现已被克隆,从而完成了κ基因座的克隆。Lp与相邻的Ap和B区域相连,而Ld与Ad相连。有充分证据表明,在Ld的另一侧,即朝着着丝粒的方向,已到达基因座的末端。大部分克隆和连接工作是通过染色体步移完成的,使用了黏粒和λ噬菌体克隆。在三个小间隙中未找到此类克隆。其中两个间隙通过聚合酶链反应策略得以封闭;第三个间隙通过基因组印迹杂交实验进行了表征,并最终由一个酵母人工染色体克隆连接起来。在进化早期,L区域前体5'端附近包含三个Vκ基因的一段约25 kb的序列必定发生了复制,这样κ基因座大部分区域后来的复制导致Lp和Ld中各自出现了两个非常相似的三基因区域。另一方面,L区域中部的两个缺失必定是在基因座复制之后发生的,因为它们在Lp和Ld中的位置不同。

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