Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism

Journal Article · Tue Oct 01 00:00:00 EDT 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.19.8696· OSTI ID:5822855

Giebel, L B; Spritz, R A ^[1]

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1. Univ .of Wisconsin, Madison (United States)

Piebaldism is an autosomal dominant genetic disorder characterized by congenital patches of skin and hair from which melanocytes are completely absent. A similar disorder of mouse, dominant white spotting (W), results from mutations of the c-Kit protooncogene, which encodes the receptor for mast/stem cell growth factor. The authors identified a KIT gene mutation in a proband with classic autosomal dominant piebaldism. This mutation results in a Gly {yields} Arg substitution at codon 664, within the tyrosine kinase domain. This substitution was not seen in any normal individuals and was completely linked to the piebald phenotype in the proband's family. Piebaldism in this family thus appears to be the human homologue to dominant white spotting (W) of the mouse.

• OSTI ID: 5822855
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 88:19; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550200* -- Biochemistry
59 BASIC BIOLOGICAL SCIENCES
AMINO ACIDS
ARGININE
BODY
CARBOXYLIC ACIDS
DISEASES
DNA SEQUENCING
DOMINANT MUTATIONS
ENZYMES
ETIOLOGY
GENE AMPLIFICATION
GENE MUTATIONS
GENES
GLYCINE
HAIR
HEREDITARY DISEASES
MUTATIONS
ONCOGENES
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANS
PHOSPHORUS-GROUP TRANSFERASES
PHOSPHOTRANSFERASES
PIGMENTS
PROTEINS
SKIN
STRUCTURAL CHEMICAL ANALYSIS
TRANSFERASES