Gondo Y, Gardner J M, Nakatsu Y, Durham-Pierre D, Deveau S A, Kuper C, Brilliant M H
Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111.
Proc Natl Acad Sci U S A. 1993 Jan 1;90(1):297-301. doi: 10.1073/pnas.90.1.297.
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 approximately 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 approximately 70-kilobase duplicated segment. Testable models are presented to account for p(un) reversion.
影响毛色的小鼠粉红眼不稳定（p(un)）突变，表现出所有哺乳动物突变中报道的最高回复频率之一，并且与p位点的基因组DNA重复有关。在本研究中，分离并鉴定了包含p(un)重复边界的基因组克隆。通过限制性图谱分析、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序列的结构进行了分析。p(un)的DNA与野生型和回复型DNA的区别在于约70千碱基的头对头串联重复。在回复型和野生型DNA之间未检测到差异。因此，p(un)小鼠表型的回复与大约70千碱基重复片段的一个拷贝的丢失相关。提出了可检验的模型来解释p(un)的回复。
