title: Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.
abstract: Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cellular receptor transmembrane tyrosine kinase for mast/stem cell growth factor. Here we describe two novel KIT mutations associated with human piebaldism. These amino acid substitutions, located in the most highly conserved sections of the KIT kinase domain, would be expected to dominant-negatively inhibit KIT-dependent signal transduction, resulting in aberrant melanocyte proliferation or migration during embryologic development.
authors.affiliation: Department of Medical Genetics, University of Wisconsin, Madison 53706.
authors.forename: R A
authors.initials: RA
authors.lastname: Spritz
authors.forename: S A
authors.initials: SA
authors.lastname: Holmes
authors.forename: P
authors.initials: P
authors.lastname: Itin
authors.forename: W
authors.initials: W
authors.lastname: Küster
mesh_terms: D001483:Base Sequence; D003062:Codon; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016116:Piebaldism / Q000235:genetics*; D016133:Polymerase Chain Reaction; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit
chemical_list: D003062:Codon; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D019009:Proto-Oncogene Proteins c-kit