Mutation of the KIT (Mast/Stem Cell Growth Factor Receptor) Protooncogene in Human Piebaldism

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/ste...

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Bibliographic Details
Published in:Proceedings of the National Academy of Sciences - PNAS 1991-10, Vol.88 (19), p.8696-8699
Main Authors: Giebel, Lutz B., Spritz, Richard A.
Format: Article
Language:English
Subjects:
550200 - Biochemistry
Amino Acid Sequence
AMINO ACIDS
ARGININE
Base Sequence
BASIC BIOLOGICAL SCIENCES
BODY
CARBOXYLIC ACIDS
Codons
Complementary DNA
DISEASES
DNA
DNA Mutational Analysis
DNA SEQUENCING
DOMINANT MUTATIONS
ENZYMES
ETIOLOGY
Exons
GENE AMPLIFICATION
GENE MUTATIONS
GENES
Genes, Dominant
Genetic Linkage
Genetic mutation
GLYCINE
HAIR
HEREDITARY DISEASES
Humans
mast/stem cell growth factor
Molecular Sequence Data
MUTATIONS
Nucleotide sequences
Oligonucleotides - chemistry
ONCOGENES
ORGANIC ACIDS
ORGANIC COMPOUNDS
ORGANS
Pedigree
PHOSPHORUS-GROUP TRANSFERASES
PHOSPHOTRANSFERASES
Piebaldism
Piebaldism - genetics
PIGMENTS
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Protein-Tyrosine Kinases - genetics
PROTEINS
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins c-kit
Proto-Oncogenes
Receptors
Receptors, Cell Surface - genetics
SKIN
STRUCTURAL CHEMICAL ANALYSIS
TRANSFERASES
Citations: Items that cite this one
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Description
Summary: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. We identified a KIT gene mutation in a proband with classic autosomal dominant piebaldism. This mutation results in a Gly → 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.
ISSN:0027-8424
1091-6490
DOI:10.1073/pnas.88.19.8696