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    Science. 1992 Aug 21;257(5073):1121-4.

    The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.

    Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH.

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

    Complementary DNA clones from the pink-eyed dilution (p) locus of mouse chromosome 7 were isolated from murine melanoma and melanocyte libraries. The transcript from this gene is missing or altered in six independent mutant alleles of the p locus, suggesting that disruption of this gene results in the hypopigmentation phenotype that defines mutant p alleles. Characterization of the human homolog revealed that it is localized to human chromosome 15 at q11.2-q12, a region associated with Prader-Willi and Angelman syndromes, suggesting that altered expression of this gene may be responsible for the hypopigmentation phenotype exhibited by certain individuals with these disorders.

    PMID: 1509264 [PubMed - indexed for MEDLINE]

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