Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.

Abstract excerpt

Human piebald trait is an autosomal dominant defect in melanocyte development characterized by patches of hypopigmented skin and hair. Although the molecular basis of piebaldism has been unclear, a phenotypically similar "dominant spotting" of mice is caused by mutations in the murine c-kit protooncogene. In this regard, one piebald case with a point mutation and another with a deletion of c-kit have been...

Topics

• Alleles
• Amino Acid Sequence
• Base Sequence
• DNA
• Genes, Dominant
• Humans
• Molecular Sequence Data
• Mutation
• Phenotype
• Piebaldism
• Polymerase Chain Reaction
• Proto-Oncogene Proteins