First Author | Gondo Y | Year | 1993 |
Journal | Proc Natl Acad Sci U S A | Volume | 90 |
Issue | 1 | Pages | 297-301 |
PubMed ID | 8419934 | Mgi Jnum | J:3762 |
Mgi Id | MGI:52271 | Doi | 10.1073/pnas.90.1.297 |
Citation | Gondo Y, et al. (1993) High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation. Proc Natl Acad Sci U S A 90(1):297-301 |
abstractText | 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. |