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


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.

SUBMITTER: Gondo Y 

PROVIDER: S-EPMC45647 | biostudies-other | 1993 Jan

REPOSITORIES: biostudies-other

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

Gondo Y Y   Gardner J M JM   Nakatsu Y Y   Durham-Pierre D D   Deveau S A SA   Kuper C C   Brilliant M H MH  

Proceedings of the National Academy of Sciences of the United States of America 19930101 1


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, a  ...[more]

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