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

研究成果: Contribution to journalArticle査読

180 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)1121-1124
ページ数4
ジャーナルScience
257
5073
DOI
出版ステータス出版済み - 1992
外部発表はい

All Science Journal Classification (ASJC) codes

  • General

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