HIGH-FREQUENCY GENETIC REVERSION MEDIATED BY A DNA DUPLICATION - THE MOUSE PINK-EYED UNSTABLE MUTATION
HIGH-FREQUENCY GENETIC REVERSION MEDIATED BY A DNA DUPLICATION - THE MOUSE PINK-EYED UNSTABLE MUTATION
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DOI：
10.1073/pnas.90.1.297
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发表时间：
1993-01-01
影响因子：
11.1
通讯作者：
BRILLIANT, MH
中科院分区：
文献类型：
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作者：
GONDO, Y;GARDNER, JM;BRILLIANT, MH
影响毛色的小鼠粉红眼不稳定（p(un)）突变，在所有已报道的哺乳动物突变中呈现出最高的回复频率之一，并且与p位点的基因组DNA重复相关。在这项研究中，分离并鉴定了包含p(un)重复边界的基因组克隆。通过限制酶切图谱分析、PCR产物分析、DNA序列分析和脉冲场凝胶电泳，对这些序列及其野生型和回复型对应物的结构进行了分析。p(un)的DNA通过约70千碱基的首尾串联重复而区别于野生型和回复型DNA。在回复型和野生型DNA之间未检测到差异。因此，p(un)小鼠表型的回复与一个约70千碱基重复片段的一个拷贝的缺失相关。提出了可检验的模型来解释p(un)的回复。
The mouse pink-eyed unstable (p(un)) mutation, affecting coat color, exhibits one of the highest reported reversion frequencies of any mammalian mutation and is associated with a duplication of genomic DNA at the p locus. In this study, genomic clones containing the boundaries of the p(un) duplication were isolated and characterized. The structure of these sequences and their wild-type and revertant counterparts were analyzed by restriction mapping, PCR product analysis, DNA sequence analysis, and pulsed-field gel electrophoresis. DNA from p(un) was distinguished from wild-type and revertant DNA by a head-to-tail tandem duplication of almost-equal-to 70 kilobases. No differences were detected between revertant and wild-type DNAs. Thus, the reversion in phenotype of p(un) mice is coupled with the loss of one copy of an almost-equal-to 70 -kilobase duplicated segment. Testable models are presented to account for p(un) reversion.