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Publication : Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning.

First Author  Brilliant MH Year  1991
Journal  Science Volume  252
Issue  5005 Pages  566-9
PubMed ID  1673574 Mgi Jnum  J:11138
Mgi Id  MGI:59580 Doi  10.1126/science.1673574
Citation  Brilliant MH, et al. (1991) Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning. Science 252(5005):566-9
abstractText  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.
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