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

John M. Gardner, Yoshimichi Nakatsu, Yoichi Gondo, Susan Lee, Mary F. Lyon, Richard A. King, Murray H. Brilliant

Research output: Contribution to journalArticlepeer-review

180 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1121-1124
Number of pages4
JournalScience
Volume257
Issue number5073
DOIs
Publication statusPublished - 1992
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General

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