The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.
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.
Gardner
J M
JM
Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111.
Nakatsu
Y
Y
Gondo
Y
Y
Lee
S
S
Lyon
M F
MF
King
R A
RA
Brilliant
M H
MH
D000595:Amino Acid Sequence; D000818:Animals; D002352:Carrier Proteins; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D006801:Humans; D008544:Melanocytes / Q000737:chemistry; D008546:Melanoma, Experimental / Q000737:chemistry; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics*; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011506:Proteins / Q000737:chemistry; D012689:Sequence Homology, Nucleic Acid
D002352:Carrier Proteins; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; D011506:Proteins; C076239:P protein, mouse; D004247:DNA