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BioMed Research International
Volume 2013 (2013), Article ID 689756, 6 pages
A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family
1The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China
2The Laboratory of Basic Medicine, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China
3The Department of Research, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China
4Institute of Mental Health, Second Xiangya Hospital, Central South University, Changsha 410008, China
5Institute of Endocrinology Mental Health, Second Xiangya Hospital, Central South University, Changsha 410008, China
6Department of Emergency, Hunan Children’s Hospital, The Paediatric Academy of University of South China, Changsha 410008, China
Received 30 April 2013; Revised 8 July 2013; Accepted 10 July 2013
Academic Editor: Davinder Parsad
Copyright © 2013 Yong-jia Yang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- L. B. Giebel and R. A. Spritz, “Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism,” Proceedings of the National Academy of Sciences of the United States of America, vol. 88, no. 19, pp. 8696–8699, 1991.
- T. Narita, N. Oiso, K. Fukai et al., “Two children with a mild or moderate piebaldism phenotype and a father without leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT,” European Journal of Dermatology, vol. 21, no. 3, pp. 446–447, 2011.
- N. Oiso, K. Kishida, K. Fukai et al., “A Japanese piebald patient with auburn hair colour associated with a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R gene,” The British Journal of Dermatology, vol. 161, no. 2, pp. 468–469, 2009.
- K. A. Beaumont, S. N. Shekar, A. L. Cook, D. L. Duffy, and R. A. Sturm, “Red hair is the null phenotype of MC1R,” Human Mutation, vol. 29, no. 8, pp. E88–E94, 2008.
- T. Motokawa, T. Kato, Y. Hashimoto et al., “Characteristic MC1R polymorphism in the Japanese population,” Journal of Dermatological Science, vol. 41, no. 2, pp. 143–145, 2006.
- N. Oiso, K. Fukai, A. Kawada, and T. Suzuki, “Piebaldism,” The Journal of Dermatology, vol. 40, no. 5, pp. 330–335, 2013.
- T. Murakami, K. Fukai, N. Oiso et al., “New KIT mutations in patients with piebaldism,” Journal of Dermatological Science, vol. 35, no. 1, pp. 29–33, 2004.
- S. Bondanza, M. Bellini, G. Roversi et al., “Piebald trait: implication of kit mutation on in vitro melanocyte survival and on the clinical application of cultured epidermal autografts,” Journal of Investigative Dermatology, vol. 127, no. 3, pp. 676–686, 2007.
- S. Yuzawa, Y. Opatowsky, Z. Zhang, V. Mandiyan, I. Lax, and J. Schlessinger, “Structural basis for activation of the receptor tyrosine kinase KIT by stem cell factor,” Cell, vol. 130, no. 2, pp. 323–334, 2007.
- J. M. Grichnik, “KIT and melanocyte migration,” Journal of Investigative Dermatology, vol. 126, no. 5, pp. 945–947, 2006.
- D. W. Roberts, R. A. Newton, K. A. Beaumont, J. Helen Leonard, and R. A. Sturm, “Quantitative analysis of MC1R gene expression in human skin cell cultures,” Pigment Cell Research, vol. 19, no. 1, pp. 76–89, 2006.
- K. Makova and H. Norton, “Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans,” Peptides, vol. 26, no. 10, pp. 1901–1908, 2005.
- B. L. Sánchez-Laorden, C. Jiménez-Cervantes, and J. C. García-Borrón, “Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer,” Journal of Biological Chemistry, vol. 282, no. 5, pp. 3241–3251, 2007.
- J. L. Rees, “Genetics of hair and skin color,” Annual Review of Genetics, vol. 37, pp. 67–90, 2003.
- N. Flanagan, E. Healy, A. Ray et al., “Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation,” Human Molecular Genetics, vol. 9, no. 17, pp. 2531–2537, 2000.
- Z. M. Lin, Z. Xu, D. F. Bu, and Y. Yang, “New mutations of KIT gene in two Chinese patients with piebaldism,” British Journal of Dermatology, vol. 155, no. 6, pp. 1303–1304, 2006.
- R. A. Spritz and P. Beighton, “Piebaldism with deafness: molecular evidence for an expanded syndrome,” American Journal of Medical Genetics, vol. 75, no. 1, pp. 101–103, 1998.