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Gardner JM , Nakatsu Y , Gondo Y , Lee S , Lyon MF , King RA , Brilliant MH
The mouse pink-eyed dilution gene: Association with human Prader-Willi and Angelman syndromes
Science. 1992 ;257(5073) :1121-1124
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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.
00368075 (ISSN) Cited By: 80; Export Date: 31 May 2006; Source: Scopus CODEN: SCIEA Language of Original Document: English Correspondence Address: Brilliant, M.H.; Institute for Cancer Research; Fox Chase Cancer Center Philadelphia, PA 19111, United States Molecular Sequence Numbers: GENBANK: M97900, M97901; Chemicals/CAS: DNA, 9007-49-2; pink-eyed dilution protein, 148710-77-4; Proteins