TY - JOUR
T1 - The mouse pink-eyed dilution gene
T2 - Association with human Prader-Willi and Angelman syndromes
AU - Gardner, John M.
AU - Nakatsu, Yoshimichi
AU - Gondo, Yoichi
AU - Lee, Susan
AU - Lyon, Mary F.
AU - King, Richard A.
AU - Brilliant, Murray H.
PY - 1992
Y1 - 1992
N2 - 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.
AB - 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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U2 - 10.1126/science.257.5073.1121
DO - 10.1126/science.257.5073.1121
M3 - Article
C2 - 1509264
AN - SCOPUS:0026686945
SN - 0036-8075
VL - 257
SP - 1121
EP - 1124
JO - Science
JF - Science
IS - 5073
ER -