title: 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.
authors.affiliation: Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111.
authors.forename: Y
authors.initials: Y
authors.lastname: Gondo
authors.forename: J M
authors.initials: JM
authors.lastname: Gardner
authors.forename: Y
authors.initials: Y
authors.lastname: Nakatsu
authors.forename: D
authors.initials: D
authors.lastname: Durham-Pierre
authors.forename: S A
authors.initials: SA
authors.lastname: Deveau
authors.forename: C
authors.initials: C
authors.lastname: Kuper
authors.forename: M H
authors.initials: MH
authors.lastname: Brilliant
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D015139:Blotting, Southern; D003001:Cloning, Molecular; D003434:Crossing Over, Genetic; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D004261:DNA Replication; D016678:Genome; D015698:Genomic Library; D005838:Genotype; D006720:Homozygote; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains / Q000235:genetics*; D008969:Molecular Sequence Data; D008970:Molecular Weight; D005810:Multigene Family; D009154:Mutation; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid; D013154:Spleen / Q000502:physiology
chemical_list: D009838:Oligodeoxyribonucleotides; D004247:DNA