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Science 26 April 1991:
Vol. 252. no. 5005, pp. 566 - 569
DOI: 10.1126/science.1673574
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Articles

Science, Vol 252, Issue 5005, 566-569
Copyright © 1991 by American Association for the Advancement of Science

articles

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

MH Brilliant, Y Gondo, and EM Eicher

Institute of Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111.

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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