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

J M Gardner1, Y Nakatsu, Y Gondo

  • 1Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111.

Science (New York, N.Y.)
|August 21, 1992
PubMed

Insights

Researchers identified the pink-eyed dilution (p) gene in mice, finding its disruption causes hypopigmentation. This gene

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • The pink-eyed dilution (p) locus on mouse chromosome 7 is crucial for pigmentation.
  • Mutations in the p locus lead to a hypopigmentation phenotype.

Purpose of the Study:

  • To isolate and characterize complementary DNA (cDNA) clones from the mouse p locus.
  • To investigate the genetic basis of the hypopigmentation phenotype in p mutants.
  • To identify and localize the human homolog of the mouse p gene.

Main Methods:

  • Isolation of cDNA clones from murine melanoma and melanocyte libraries.
  • Analysis of gene expression in six independent mutant alleles of the p locus.
  • Localization of the human homolog using chromosome mapping techniques.

Main Results:

  • The transcript from the p gene was found to be missing or altered in all six mutant alleles.
  • Disruption of this gene directly correlates with the hypopigmentation phenotype.
  • The human homolog of the p gene was localized to chromosome 15q11.2-q11.2.

Conclusions:

  • The identified gene is essential for normal pigmentation in mice.
  • Alterations in this gene are the cause of the pink-eyed dilution phenotype.
  • The human homolog's location near Prader-Willi and Angelman syndrome regions suggests a role in hypopigmentation in these disorders.

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