Direct Molecular Identification of the Mouse Pink-Eyed Unstable Mutation by Genome Scanning
- 26 April 1991
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 252 (5005) , 566-569
- https://doi.org/10.1126/science.1673574
Abstract
DNA sequences associated with the mouse pink-eyed unstable mutation were identified in the absence of closely linked molecular markers and without prior knowledge of the encoded gene product. This was accomplished by "genome scanning," a technique in which high-resolution Southern blots of genomic DNAs were hybridized to a dispersed and moderately repetitive DNA sequence. In this assay, pink-eyed unstable DNA was distinguished from the DNA of wild-type and revertant mice by enhanced hybridization to one of several hundred resolved fragments. The fragment showing enhanced hybridization in pink-eyed unstable DNA was cloned and found to lie within a DNA duplication that is located close to, or within, the pink-eyed dilution locus. The duplication associated with the mouse pink-eyed unstable mutation may mediate the high reversion frequency characteristic of this mutation.Keywords
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