RECOMBINATION AT THE HUMAN ALPHA-GLOBIN GENE-CLUSTER - SEQUENCE FEATURES AND TOPOLOGICAL CONSTRAINTS
RECOMBINATION AT THE HUMAN ALPHA-GLOBIN GENE-CLUSTER - SEQUENCE FEATURES AND TOPOLOGICAL CONSTRAINTS
复制标题
DOI：
10.1016/0092-8674(87)90289-3
复制
发表时间：
1987-05-08
期刊：
影响因子：
64.5
通讯作者：
HIGGS, DR
中科院分区：
文献类型：
--
作者：
NICHOLLS, RD;FISCHELGHODSIAN, N;HIGGS, DR
我们已经表征了人类 α-珠蛋白基因簇周围 170 kb 的 DNA，以便能够系统分析该区域中 12 个自然发生的缺失。在 8 个缺失中，3'' 断点位于 6-8 kb DNA 片段内，识别断点簇区域。 Alu 重复序列家族的成员经常在断点处发现，我们描述了由于此类重复之间的同源重组而产生的新缺失。在另一个缺失中，断点被 131 bp 的 DNA 分开，我们已经证明它是从 5'' 断点上游 36 kb 的区域转置的，在该区域它以相反的方向存在。这些缺失的大小、其断点的非随机分布以及倒位-重复转座事件的性质表明这些重排受到α-珠蛋白簇的高阶结构的限制。
We have characterized 170 kb of DNA around the human .alpha.-globin gene cluster to enable a systematic analysis of 12 naturally occurring deletions from this region. In 8 deletions, the 3'' breakpoints lie within a 6-8 kb segment of DNA, identifying a breakpoint cluster region. Members of the Alu family of repetitive sequences are frequently found at the breakpoints and we describe a novel deletion due to homologous recombination between such repeats. In another deletion the breakpoints are separated by 131 bp of DNA, which we have shown to be transposed from a region 36 kb upstream from the 5'' breakpoint where it is present in the inverse orientation. The sizes of these deletions, the nonrandom distribution of their breakpoints, and the nature of the inversion-duplication transposition event suggest that these rearrangements are constrained by the higher-order structure of the .alpha.-globin cluster.