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. 1993 Jan 1;90(1):297–301. doi: 10.1073/pnas.90.1.297

High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation.

Y Gondo 1, J M Gardner 1, Y Nakatsu 1, D Durham-Pierre 1, S A Deveau 1, C Kuper 1, M H Brilliant 1
PMCID: PMC45647  PMID: 8419934

Abstract

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.

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Selected References

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