High-Frequency Genetic Reversion Mediated by a DNA Duplication: The Mouse Pink-Eyed Unstable Mutation
The mouse pink-eyed unstable (pun) 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 punduplication we...
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Published in | Proceedings of the National Academy of Sciences - PNAS Vol. 90; no. 1; pp. 297 - 301 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
Published |
Washington, DC
National Academy of Sciences of the United States of America
01.01.1993
National Acad Sciences National Academy of Sciences |
Subjects | |
Online Access | Get full text |
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Summary: | The mouse pink-eyed unstable (pun) 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 punduplication 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 punwas distinguished from wild-type and revertant DNA by a head-to-tail tandem duplication of ≈ 70 kilobases. No differences were detected between revertant and wild-type DNAs. Thus, the reversion in phenotype of punmice is coupled with the loss of one copy of an ≈ 70-kilobase duplicated segment. Testable models are presented to account for punreversion |
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Bibliography: | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 |
ISSN: | 0027-8424 1091-6490 |
DOI: | 10.1073/pnas.90.1.297 |