ArticleProceedings of the National Academy of Sciences of the United States of America1991
Deletion of the c-kit protooncogene in the human developmental defect piebald trait.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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44 citing papers in PubMed, 209 citations in OpenAlex.
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- Genomic approaches to identify hybrids and estimate admixture times in European wildcat populations.Scientific reports · 2019Article
- From neural crest cells to melanocytes: cellular plasticity during development and beyond.Cellular and molecular life sciences : CMLS · 2019Review
- The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation.Pigment cell & melanoma research · 2018Article
- Pigeonetics takes flight: Evolution, development, and genetics of intraspecific variation.Developmental biology · 2017Review
- From fish bowl to bedside: The power of zebrafish to unravel melanoma pathogenesis and discover new therapeutics.Pigment cell & melanoma research · 2017Review
- Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.American journal of human genetics · 2015Article
- AHR promoter variant modulates its transcription and downstream effectors by allele-specific AHR-SP1 interaction functioning as a genetic marker for vitiligo.Scientific reports · 2015Article
- The melanocyte lineage in development and disease.Development (Cambridge, England) · 2015Review
- The strength and cooperativity of KIT ectodomain contacts determine normal ligand-dependent stimulation or oncogenic activation in cancer.Molecular cell · 2015Article
- Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats.G3 (Bethesda, Md.) · 2014Article
- The "domestication syndrome" in mammals: a unified explanation based on neural crest cell behavior and genetics.Genetics · 2014Article
- Article
- 2012 Curt Stern Award address.American journal of human genetics · 2013Article
- YY1 regulates melanocyte development and function by cooperating with MITF.PLoS genetics · 2012Article
- DUSPs strike again.Cell cycle (Georgetown, Tex.) · 2011Article
- Article
- C-KIT signaling depends on microphthalmia-associated transcription factor for effects on cell proliferation.PloS one · 2011Article
- From melanocyte to metastatic malignant melanoma.Dermatology research and practice · 2010Article
- Allelic heterogeneity at the equine KIT locus in dominant white (W) horses.PLoS genetics · 2007Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The protooncogene c-kit is critical for development of hematopoietic stem cells, germ cells, and melanoblasts in the mouse. Homozygous mutations of this gene in the mouse cause anemia, infertility, and albinism, whereas heterozygous mutant mice usually exhibit only a white forehead blaze and depigmentation of the ventral body, tail, and feet. The heterozygous mouse phenotype is very similar to human piebald trait, which is characterized by a congenital white hair forelock and ventral and extremity depigmentation. To investigate the possibility that alterations in the human c-kit gene may be a cause of piebald trait, DNA from seven unrelated affected individuals was examined by Southern blot analysis. One subject, although cytogenetically normal, has a heterozygous deletion of the c-kit protooncogene. This deletion encompasses the entire coding region for c-kit and also involves the closely linked gene for platelet-derived growth factor receptor alpha. Fluorescence in situ hybridization of genomic c-kit probes to metaphase chromosomes independently confirmed the deletion in this case. These findings provide molecular evidence mapping piebald trait to the c-kit locus on chromosome 4. Although we cannot exclude the involvement of other closely linked genes, the demonstration of a genomic c-kit deletion in one subject with piebald trait and the marked concordance of the human and mouse phenotypes provide strong evidence for the role of c-kit in the development of human melanocytes and in the pathogenesis of piebald trait.
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