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

Yoichi Gondo, John M. Gardner, Yoshimichi Nakatsu, Donna Durham-Pierre, Susan A. Deveau, Cynthia Kuper, Murray H. Brilliant

Research output: Contribution to journalArticlepeer-review

74 Citations (Scopus)

Abstract

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 pun 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 pun was 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 pun mice is coupled with the loss of one copy of an ≈70-kilobase duplicated segment. Testable models are presented to account for pun reversion.

Original languageEnglish
Pages (from-to)297-301
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Volume90
Issue number1
DOIs
Publication statusPublished - Jan 1 1993
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General

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