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

• DOI: 10.1126/science.257.5073.1121
• Publication Date: 2006-10-05T23:03:06Z
• Authors: John M. Gardner; Yoshimichi Nakatsu; Yoichi Gondo; Susan Lee; Mary F. Lyon; Richard A. King; Murray H. Brilliant
• Keywords: 0301 basic medicine; Chromosomes, Human, Pair 15; Molecular Sequence Data; Melanoma, Experimental; Membrane Proteins; Membrane Transport Proteins; Nucleic Acid Hybridization; Proteins; DNA; Mice, Mutant Strains; Mice; 03 medical and health sciences; Phenotype; Mutation; Animals; Humans; Melanocytes; Amino Acid Sequence; Cloning, Molecular; Carrier Proteins; Pigmentation Disorders; Prader-Willi Syndrome

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.