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 language | English |
|---|---|
| Pages (from-to) | 398-402 |
| Number of pages | 5 |
| Journal | Pigment Cell Research |
| Volume | 7 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Jan 1 1994 |
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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 journal › Article
}
TY - JOUR
T1 - The Mouse Pink‐Eyed Dilution Gene
T2 - Association with Hypopigmentation in Prader‐Willi and Angelman Syndromes and with Human OCA2
AU - BRILLIANT, MURRAY H.
AU - KING, RICHARD
AU - FRANCKE, UTA
AU - SCHUFFENHAUER, SIMONE
AU - MEITINGER, THOMAS
AU - GARDNER, JOHN M.
AU - DURHAM‐PIERRE, DONNA
AU - Nakatsu, Yoshimichi
PY - 1994/1/1
Y1 - 1994/1/1
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1600-0749.1994.tb00068.x
DO - 10.1111/j.1600-0749.1994.tb00068.x
M3 - Article
VL - 7
SP - 398
EP - 402
JO - Pigment Cell and Melanoma Research
JF - Pigment Cell and Melanoma Research
SN - 1755-1471
IS - 6
ER -