title: Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus.
abstract: We have determined the DNA sequence and genomic organization of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. D12S53E encodes a melanosomal matrix protein whose expression is closely correlated with cellular melanin content and which is a frequent melanoma tumor antigen recognized by cytotoxic T lymphocytes. D12S53E is a likely candidate gene for some cases of human oculocutaneous albinism not associated with known albinism loci.
authors.affiliation: Department of Medical Genetics, University of Wisconsin School of Medicine, Madison, USA.
authors.forename: T
authors.initials: T
authors.lastname: Bailin
authors.forename: S T
authors.initials: ST
authors.lastname: Lee
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D016678:Genome; D006200:Hair Color / Q000502:physiology*; D006801:Humans; D051379:Mice / Q000235:genetics*; D008969:Molecular Sequence Data; D012326:RNA Splicing; D012689:Sequence Homology, Nucleic Acid