The Mouse Pink-Eyed Dilution Gene: Association with Human Prader-Willi and Angelman Syndromes
- 21 August 1992
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 257 (5073) , 1121-1124
- https://doi.org/10.1126/science.257.5073.1121
Abstract
Complementary DNA clones from the pink-eyed dilution (p) locus of mouse chromosome 7 were isolated from murine melanoma and melanocyte libraries. The transcript from this gene is missing or altered in six independent mutant alleles of the p locus, suggesting that disruption of this gene results in the hypopigmentation phenotype that defines mutant p alleles. Characterization of the human homolog revealed that it is localized to human chromosome 15 at q11.2-q12, a region associated with Prader-Willi and Angelman syndromes, suggesting that altered expression of this gene may be responsible for the hypopigmentation phenotype exhibited by certain individuals with these disorders.Keywords
This publication has 32 references indexed in Scilit:
- Direct Molecular Identification of the Mouse Pink-Eyed Unstable Mutation by Genome ScanningScience, 1991
- Pigmented cell lines of mouse albino melanocytes containing a tyrosinase cDNA with an inducible promoterSomatic Cell and Molecular Genetics, 1990
- Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprintingAmerican Journal of Medical Genetics, 1990
- Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.Journal of Medical Genetics, 1989
- Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader‐Willi syndromeAmerican Journal of Medical Genetics, 1989
- Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader‐Willi syndromeAmerican Journal of Medical Genetics, 1989
- Abnormalities of the Central Visual Pathways in Prader–Willi Syndrome Associated with HypopigmentationNew England Journal of Medicine, 1986
- Patterns of Amino Acids near Signal‐Sequence Cleavage SitesEuropean Journal of Biochemistry, 1983
- The fine structure of melanogenesis in coat color mutants of the mouseJournal of Ultrastructure Research, 1973
- Spontaneous somatic reversion in mice effects of parental genotype on stability at the π-locusMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1971