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Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.
Open accessAbstract
Piebaldism is an autosomal dominant genetic disorder characterized by cogenital 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 and 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.
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Cites
Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
Saiki, R. K., Gelfand, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., & Erlich, H. A. (1988) · Science · doi:10.1126/science.2448875 · Cited by 17,719
The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene
Geissler, E. N., Ryan, M. A., & Housman, D. E. (1988) · Cell · doi:10.1016/0092-8674(88)90020-7 · Cited by 1,287
Cited by
Melanin pigmentation in mammalian skin and its hormonal regulation
Slominski, A., Tobin, D. J., Shibahara, S., & Wortsman, J. (2004) · Physiological Reviews · doi:10.1152/physrev.00044.2003 · Cited by 2,015
Requirement of c-kit for development of intestinal pacemaker system
Maeda, H., Yamagata, A., Nishikawa, S., Yoshinaga, K., Kobayashi, S., Nishi, K., & Nishikawa, S.-I. (1992) · Development · doi:10.1242/dev.116.2.369 · Cited by 697
Developmental defects in gorlin syndrome related to a putative tumor suppressor gene on chromosome 9
Gailani, M. R., Bale, S. J., Leffell, D. J., DiGiovanna, J. J., Peck, G. L., Poliak, S., Drum, M. A., Pastakia, B., McBride, O. W., Kase, R., et al. (1992) · Cell · doi:10.1016/0092-8674(92)90122-s · Cited by 423
Autocrine and paracrine regulation of melanocytes in human skin and in pigmentary disorders
Imokawa, G. (2004) · Pigment Cell Research · doi:10.1111/j.1600-0749.2003.00126.x · Cited by 369
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Metadata
- Authors
- Giebel, L. B., & Spritz, R. A.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1991-10
- Volume
- 88
- Issue
- 19
- Pages
- 8696-8699
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2045593483
- Cited by
- 383
- References
- 2
- FWCI
- 8.51
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. https://app.cochat.ai/papers/10.1073/pnas.88.19.8696
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- Giebel, L. B., & Spritz, R. A. (1991). Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.88.19.8696
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