ArticleThe Journal of clinical investigation1992
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.
Article in The Journal of clinical investigation, 1992. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 73 citations in OpenAlex.
- Novel Germline KIT Variants in Families With Severe Piebaldism: Case Series and Literature Review.Journal of clinical laboratory analysis · 2024Review
- Role and significance of c-KIT receptor tyrosine kinase in cancer: A review.Bosnian journal of basic medical sciences · 2022Review
- Pigeonetics takes flight: Evolution, development, and genetics of intraspecific variation.Developmental biology · 2017Review
- Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.Journal of neurology · 2014Article
- Loss of AP-2 results in downregulation of c-KIT and enhancement of melanoma tumorigenicity and metastasis.The EMBO journal · 1998Article
- Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.Journal of medical genetics · 1997Review
- Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.American journal of human genetics · 1995Article
- Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.Proceedings of the National Academy of Sciences of the United States of America · 1994Article
- Stem cell factor, a novel cutaneous growth factor for mast cells and melanocytes.Archives of dermatological research · 1994Review
- Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.American journal of human genetics · 1992Article
- Effect of the c-kit codon 584 Phe----Leu substitution demonstrated in human piebaldism.American journal of human genetics · 1992Article
- Effect of alleles Wv and Wy of the dominant white spotting mutation on the preimplantation development of mice.Doklady biological sciences : proceedings of the Academy of Sciences of the USSR, Biological sciences sectionsArticle
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 reported, although a polymorphism or the involvement of a closely linked gene could not be excluded. To confirm the hypothesis that piebaldism results from mutations in the human gene, c-kit exons were amplified by polymerase chain reaction from the DNA of 10 affected subjects and screened for nucleotide changes by single-stranded conformation polymorphism analysis. In one subject with a variant single-stranded conformation polymorphism pattern for the first exon encoding the kinase domain, DNA sequencing demonstrated a missense mutation (Glu583----Lys). This mutation is identical to the mouse W37 mutation which abolishes autophosphorylation of the protein product and causes more extensive depigmentation than "null" mutations. In accord with this "dominant negative" effect, the identical mutation in this human kindred is associated with unusually extensive depigmentation. Thus, the finding of a piebald subject with a mutation that impairs receptor activity strongly implicates the c-kit gene in the molecular pathogenesis of this human developmental defect.
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