The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes

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Science  21 Aug 1992:
Vol. 257, Issue 5073, pp. 1121-1124
DOI: 10.1126/science.257.5073.1121


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.

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