The Mouse Pink‐Eyed Dilution Gene: Association with Hypopigmentation in Prader‐Willi and Angelman Syndromes and with Human OCA2

MURRAY H. BRILLIANT, RICHARD KING, UTA FRANCKE, SIMONE SCHUFFENHAUER, THOMAS MEITINGER, JOHN M. GARDNER, DONNA DURHAM‐PIERRE, YOSHIMICHI NAKATSU

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)398-402
Number of pages5
JournalPigment Cell Research
Volume7
Issue number6
DOIs
Publication statusPublished - Dec 1994
Externally publishedYes

    Fingerprint

All Science Journal Classification (ASJC) codes

  • Agronomy and Crop Science
  • Plant Science
  • Developmental Biology
  • Clinical Biochemistry
  • Cell Biology

Cite this