NOVEL MUTATIONS OF THE KIT (MAST STEM-CELL GROWTH-FACTOR RECEPTOR) PROTOONCOGENE IN HUMAN PIEBALDISM

被引：33

作者：

SPRITZ, RA

HOLMES, SA

ITIN, P

KUSTER, W

机构：

[1] UNIV WISCONSIN, DEPT PEDIAT, MADISON, WI 53706 USA

[2] KANTONSSPITAL BASEL, DERMATOL POLYCLIN, BASEL, SWITZERLAND

[3] UNIV MARBURG, DEPT DERMATOL, W-3550 MARBURG, GERMANY

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1993年 / 101卷 / 01期

关键词：

D O I：

10.1111/1523-1747.ep12358440

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cellular receptor transmembrane tyrosine kinase for mast/stem cell growth factor. Here we describe two novel KIT mutations associated with human piebaldism. These amino acid substitutions, located in the most highly conserved sections of the KIT kinase domain, would be expected to dominant-negatively inhibit KIT-dependent signal transduction, resulting in aberrant melanocyte proliferation or migration during embryologic development.

引用

页码：22 / 25

页数：4

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