title: Light is a dominant mouse mutation resulting in premature cell death.
abstract: Light is a dominant mutant allele of the mouse brown locus which results in hairs pigmented only at their tips. The phenotype is due to premature melanocyte death. We have sequenced the tyrosinase-related protein-1 cDNA encoded at this locus from Light mice and found that it contains a single base alteration from wild-type, causing an Arg to Cys change in the protein. To further elucidate the mutant phenotype, we studied the expression of melanocyte specific genes in the skin of Light mice. We have demonstrated premature melanocyte death, but only in pigmented mice, indicating that the cell death is mediated through the inherent cytotoxicity of pigment production.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.
authors.forename: R
authors.initials: R
authors.lastname: Johnson
authors.forename: I J
authors.initials: IJ
authors.lastname: Jackson
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D016923:Cell Death / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005799:Genes, Dominant; D008544:Melanocytes / Q000166:cytology*; D008562:Membrane Glycoproteins; D051379:Mice; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D009154:Mutation; D010088:Oxidoreductases; D010859:Pigmentation Disorders / Q000235:genetics; D011506:Proteins / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics
chemical_list: D008562:Membrane Glycoproteins; D011506:Proteins; D012333:RNA, Messenger; D004247:DNA; D010088:Oxidoreductases; C079621:Tyrp1 protein, mouse; C064056:tyrosinase-related protein-1