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Science 21 August 1992:
Vol. 257. no. 5073, pp. 1121 - 1124
DOI: 10.1126/science.257.5073.1121
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Articles

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

John M. Gardner 1, Yoshimichi Nakatsu 1, Yoichi Gondo 1, Susan Lee 1, Mary F. Lyon 2, Richard A. King 3, and Murray H. Brilliant 1

1 The Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111
2 Radiobiology Unit, Medical Research Council, Chilton, Didcot, Oxon OX11 ORD, United Kingdom
3 Department of Medicine, University of Minnesota, Minneapolis, MN 55455

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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