MUTATION OF THE KIT (MAST STEM-CELL GROWTH-FACTOR RECEPTOR) PROTOONCOGENE IN HUMAN PIEBALDISM
MUTATION OF THE KIT (MAST STEM-CELL GROWTH-FACTOR RECEPTOR) PROTOONCOGENE IN HUMAN PIEBALDISM
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DOI：
10.1073/pnas.88.19.8696
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发表时间：
1991-10-01
影响因子：
11.1
通讯作者：
SPRITZ, RA
中科院分区：
文献类型：
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作者：
GIEBEL, LB;SPRITZ, RA
斑秃是一种常染色体显性遗传疾病，其特征是先天性皮肤和毛发斑片，其中黑素细胞完全缺失。小鼠的一种类似疾病，显性白色斑点（W），由编码肥大/干细胞生长因子受体的c-Kit原癌基因突变引起。我们发现了一个KIT基因突变的先证者与经典的常染色体显性斑纹。该突变导致酪氨酸激酶结构域内密码子664处的Gly-> Arg取代。这种替换在任何正常个体中都没有发现，并且与先证者家族中的花斑表型完全相关。因此，该家族中的花斑病似乎是人类与小鼠显性白色斑点（W）的同源物。
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.