The mouse pink-eyed dilution gene: association wit...[Science. 1992]

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1: Science. 1992 Aug 21;257(5073):1121-4. Links

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.

Gardner JM, Nakatsu Y, Gondo Y, Lee S, Lyon MF, King RA, Brilliant MH.

Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111.

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.

PMID: 1509264 [PubMed - indexed for MEDLINE]

ReviewThe mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.
Mamm Genome. 1992; 3(4):187-91.

[Mamm Genome. 1992]
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
Nature. 1993 Jan 7; 361(6407):72-6.

[Nature. 1993]
The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2.
Pigment Cell Res. 1994 Dec; 7(6):398-402.

[Pigment Cell Res. 1994]
ReviewThe mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.
Pigment Cell Res. 2001 Apr; 14(2):86-93.

[Pigment Cell Res. 2001]
Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene?
Hum Genet. 1995 Oct; 96(4):485-9.

[Hum Genet. 1995]
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[Am J Hum Genet. 2008]
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[Pediatr Neurol. 2007]
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