Faculty Research 1990 - 1999

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

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Animal, Base-Sequence, Blotting-Southern, Cloning-Molecular, Comparative-Study, Crossing-Over-(Genetics), DNA: ge, DNA-Replication, Genes-Reiterated, Genome, Genomic-Library, Genotype, Homozygote, Mice, Mice-Inbred-C57BL, Mice-Mutant-Strains: ge, Molecular-Sequence-Data, Molecular-Weight, Mutation, Oligodeoxyribonucleotides, Polymerase-Chain-Reaction, Restriction-Mapping, Sequence-Homology-Nucleic-Acid, Spleen: ph, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S

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JAX Source

Proc Natl Acad Sci U S A 1993 Jan 1;90(1):297-301


GM43840/GM/NIGMS, GM22167/GM/NIGMS, CA06927/CA/NCI


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.

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