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

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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 - Jan 1 1994

Fingerprint

Angelman Syndrome
Hypopigmentation
Dilution
Genes
mice
genes
Chromosomes
mutation
Mutation
Complementary DNA
chromosomes
loci
genomic imprinting
Chromosomes, Human, Pair 7
Human Chromosomes
Oculocutaneous albinism type 2
Mothers

All Science Journal Classification (ASJC) codes

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

Cite this

The Mouse Pink‐Eyed Dilution Gene : Association with Hypopigmentation in Prader‐Willi and Angelman Syndromes and with Human OCA2. / BRILLIANT, MURRAY H.; KING, RICHARD; FRANCKE, UTA; SCHUFFENHAUER, SIMONE; MEITINGER, THOMAS; GARDNER, JOHN M.; DURHAM‐PIERRE, DONNA; Nakatsu, Yoshimichi.

In: Pigment Cell Research, Vol. 7, No. 6, 01.01.1994, p. 398-402.

Research output: Contribution to journalArticle

BRILLIANT, MURRAYH, KING, RICHARD, FRANCKE, UTA, SCHUFFENHAUER, SIMONE, MEITINGER, THOMAS, GARDNER, JOHNM, DURHAM‐PIERRE, DONNA & Nakatsu, Y 1994, 'The Mouse Pink‐Eyed Dilution Gene: Association with Hypopigmentation in Prader‐Willi and Angelman Syndromes and with Human OCA2', Pigment Cell Research, vol. 7, no. 6, pp. 398-402. https://doi.org/10.1111/j.1600-0749.1994.tb00068.x
BRILLIANT MURRAYH, KING RICHARD, FRANCKE UTA, SCHUFFENHAUER SIMONE, MEITINGER THOMAS, GARDNER JOHNM et al. The Mouse Pink‐Eyed Dilution Gene: Association with Hypopigmentation in Prader‐Willi and Angelman Syndromes and with Human OCA2. Pigment Cell Research. 1994 Jan 1;7(6):398-402. https://doi.org/10.1111/j.1600-0749.1994.tb00068.x
BRILLIANT, MURRAY H. ; KING, RICHARD ; FRANCKE, UTA ; SCHUFFENHAUER, SIMONE ; MEITINGER, THOMAS ; GARDNER, JOHN M. ; DURHAM‐PIERRE, DONNA ; Nakatsu, Yoshimichi. / The Mouse Pink‐Eyed Dilution Gene : Association with Hypopigmentation in Prader‐Willi and Angelman Syndromes and with Human OCA2. In: Pigment Cell Research. 1994 ; Vol. 7, No. 6. pp. 398-402.
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