A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

@article{Rinchik1993AGF,
  title={A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism},
  author={Eugene M. Rinchik and Scott J. Bultman and Bernhard Horsthemke and Seung-Taek Lee and Kathleen M. Strunk and Richard A. Spritz and Karen M. Avidano and Michelle T. C. Jong and Robert D. Nicholls},
  journal={Nature},
  year={1993},
  volume={361},
  pages={72-76}
}
THE mouse pink-eyed dilution (p) locus on chromosome 7 is associated with defects of skin, eye and coat pigmentation1. Mutations at p cause a reduction of eumelanin (black-brown) pigment and altered morphology of black pigment granules (eumelano-somes), but have little effect on pheomelanin (yellow-red) pigment2. We show here that the human complementary DNA DN10, linked to thep locus in mice3–5, identifies the human homologue (P) of the mouse pgene, and appears to encode an integral membrane… CONTINUE READING

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