Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Animals
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Carrier Proteins*
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Chromosomes, Human, Pair 15
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Cloning, Molecular
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DNA / genetics
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Humans
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Melanocytes / chemistry
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Melanoma, Experimental / chemistry
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Membrane Proteins*
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Membrane Transport Proteins*
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Mice
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Mice, Mutant Strains
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Molecular Sequence Data
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Mutation
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Nucleic Acid Hybridization
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Phenotype
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Pigmentation Disorders / genetics*
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Prader-Willi Syndrome / genetics*
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Proteins / chemistry
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Sequence Homology, Nucleic Acid
Substances
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Carrier Proteins
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Membrane Proteins
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Membrane Transport Proteins
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OCA2 protein, human
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Proteins
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P protein, mouse
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DNA
Associated data
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GENBANK/M97900
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GENBANK/M97901