title: Direct molecular identification of the mouse pink-eyed unstable mutation by genome scanning.
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.
authors.affiliation: Institute of Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111.
authors.forename: M H
authors.initials: MH
authors.lastname: Brilliant
authors.forename: Y
authors.initials: Y
authors.lastname: Gondo
authors.forename: E M
authors.initials: EM
authors.lastname: Eicher
mesh_terms: D000483:Alleles; D000818:Animals; D015139:Blotting, Southern / Q000379:methods; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005127:Eye Color / Q000235:genetics*; D005796:Genes; D006720:Homozygote; D051379:Mice; D008810:Mice, Inbred C57BL; D008817:Mice, Mutant Strains; D009154:Mutation; D015183:Restriction Mapping; D014446:Tyrosine 3-Monooxygenase / Q000235:genetics
chemical_list: D004247:DNA; D014446:Tyrosine 3-Monooxygenase