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. doi: 10.1111/j.1600-0749.1994.tb00068.x.


Mutations at the mouse pink-eyed dilution locus, p, cause hypopigmentation. We have cloned the mouse p gene cDNA and the cDNA of its human counterpart, P. The region of mouse chromosome 7 containing the p locus is syntenic with human chromosome 15q11-q13, a region associated with Prader-Willi syndrome (PWS) and Angelman syndrome (AS), both of which involve profound imprinting effects. PWS patients lack sequences of paternal origin from 15q, whereas AS patients lack a maternal copy of an essential region from 15q. However, the critical regions for these syndromes are much smaller than the chromosomal region commonly deleted that often includes the P gene. Hypopigmentation in PWS and AS patients is correlated with deletions of one copy of the human P gene that is highly homologous with its mouse counterpart. A subset of PWS and AS patients also have OCA2. These patients lack one copy of the P gene in the context of a PWS or AS deletion, with a mutation in the remaining chromosomal homologue of the P gene. Mutations in both homologues of the P gene of OCA2 patients who do not have PWS or AS have also been detected.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Albinism, Oculocutaneous / genetics*
  • Angelman Syndrome / genetics*
  • Animals
  • Carrier Proteins / genetics*
  • Carrier Proteins / physiology
  • Cloning, Molecular
  • DNA, Complementary / genetics
  • Eye Color / genetics*
  • Female
  • Genes
  • Genomic Imprinting
  • Humans
  • Hypopigmentation / genetics*
  • Male
  • Mammals / genetics
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Membrane Transport Proteins*
  • Mice
  • Mice, Mutant Strains
  • Models, Molecular
  • Pedigree
  • Prader-Willi Syndrome / genetics*


  • Carrier Proteins
  • DNA, Complementary
  • Membrane Proteins
  • Membrane Transport Proteins
  • OCA2 protein, human
  • P protein, mouse