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

研究成果: Contribution to journalArticle査読

26 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)398-402
ページ数5
ジャーナルPigment Cell Research
7
6
DOI
出版ステータス出版済み - 12 1994
外部発表はい

All Science Journal Classification (ASJC) codes

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

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