THE HUMAN-IMMUNOGLOBULIN ALEPH LOCUS - CHARACTERIZATION OF THE DUPLICATED A-REGIONS
THE HUMAN-IMMUNOGLOBULIN ALEPH LOCUS - CHARACTERIZATION OF THE DUPLICATED A-REGIONS
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DOI：
10.1002/eji.1830220422
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发表时间：
1992-04-01
影响因子：
5.4
通讯作者：
ZACHAU, HG
中科院分区：
文献类型：
--
作者：
LAUTNERRIESKE, A;HUBER, C;ZACHAU, HG
κ-基因座的中心区域，即所谓的A区，已经在粘粒和噬菌体噬菌体克隆上得到了充分的表征。这些区域是该基因座的C（κ）近端和远端拷贝的一部分，因此被称为A β和Ad区域，每个区域包含约140 kb，并且一起包含30个V（κ）基因和假基因。A区在其5'侧与O区连接，在其3'侧与L区连接。染色体步移消除了以前在Ap区的一个缺口。报道了Ap和Ad区域的详细限制性酶切图谱以及9个V（κ）基因的序列。在进化过程中，发现了4个可能发生在A区重复之后的事件：在Ad中插入Alu元件，在Ap中插入LINE元件的一部分，在Ap中缺失一个17.5kb的片段，其中包括一个V（kappa）基因，在Ap中缺失一个17.5kb的片段，在Ap中缺失一重复V（kappa）序列差异在这里研究的五对基因中，范围从0到14 bp/kb的基因区域将两个基因转化为假基因，而它们的复制品保留下来不降低对淋巴细胞系RPMI 6140和GM 607的A区的分析证实了先前的发现，即这些细胞系中的V（kappa）-J（kappa）重排是通过缺失和倒位机制发生的。分别因此，结构数据有助于理解κ基因座A区的进化和功能。
The central regions of the kappa-locus, the so-called A regions, have been fully characterized on cosmid and phage lambda-clones. The regions, which are parts of the C(kappa)-proximal and -distal copies of the locus and are, therefore, called Ap and Ad regions, comprise about 140 kb each and contain together 30 V(kappa) genes and pseudogenes. The A regions have been linked on their 5' sides to the O regions and on their 3' sides to the L regions. Chromosomal walking has eliminated a previous gap in the Ap region. Detailed restriction maps of the Ap and Ad regions and the sequences of 9 V(kappa) genes are reported. Four events, which have occurred in evolution probably after the duplication of the A region, were identified: the insertion of an Alu element in Ad; the insertion of part of a LINE element in Ap; the deletion of a 17.5-kb fragment including one V(kappa) gene from Ap; the sequence divergence of duplicated V(kappa) gene regions which ranges among the five pairs studied here from 0 to 14 bp per kb and converted two genes to pseudogenes while their duplicates stayed functional. An analysis of the A regions of the lymphoid cell lines RPMI 6140 and GM607 confirmed the previous finding that the V(kappa)-J(kappa) rearrangement in these cell lines had occurred by deletion and inversion mechanisms. respectively. Thus, the structural data contribute to the understanding of the evolution and the functioning of the A regions of the kappa-locus.