DELETION AND DUPLICATION OF DNA-SEQUENCES IS ASSOCIATED WITH THE EMBRYONIC LETHAL PHENOTYPE OF THE T9 COMPLEMENTATION GROUP OF THE MOUSE T-COMPLEX
DELETION AND DUPLICATION OF DNA-SEQUENCES IS ASSOCIATED WITH THE EMBRYONIC LETHAL PHENOTYPE OF THE T9 COMPLEMENTATION GROUP OF THE MOUSE T-COMPLEX
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DOI：
10.1101/gad.1.4.376
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发表时间：
1987-06-01
影响因子：
10.5
通讯作者：
LEHRACH, H
中科院分区：
文献类型：
--
作者：
BUCAN, M;HERRMANN, BG;LEHRACH, H
我们分析了 t9 互补组的三种小鼠 t 单倍型的基因组结构。已知这些 t 单倍型 tw18、t4 和 tks1 中的每一个都是由完整 t 单倍型和野生型染色体之间罕见的重组事件产生的。使用识别 t 复合体远端部分序列的分子探针，我们发现这些 t 单倍型中的每一个都包含一组 t 复合体序列的相似（可能相同）删除和另一组的重复。这些数据表明，产生这三个 t 单倍型的重组事件涉及远端倒位内类似的不等交叉。与测试的 t9 互补组的所有成员相关的遗传物质的缺失和重复为与这些 t 单倍型相关的隐性致死突变提供了分子解释。
We have analyzed the genomic structure of three mouse t haplotypes of the t9 complementation group. Each of these t haplotypes, tw18, t4, and tks1, is known to have resulted from a rare recombination event between a complete t haplotype and a wild-type chromosome. Using molecular probes that identify sequences in the distal portion of the t complex, we have shown that each of these t haplotypes contains a similar (perhaps identical) deletion of one group of t complex sequences, and duplication of another group. These data suggest that the recombination events that produced these three t haplotypes involved similar unequal crossovers within the distal inversion. The deletion and duplication of genetic material associated with all members of the t9 complementation group tested provides a molecular explanation for the recessive lethal mutation associated with these t haplotypes.