Mackenzie M A, Jordan S A, Budd P S, Jackson I J
MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, United Kingdom.
Dev Biol. 1997 Dec 1;192(1):99-107. doi: 10.1006/dbio.1997.8738.
The development of neural crest-derived melanocytes, as well as haematopoietic and germ cells, is affected by mutations of the Kit and Mgf genes, which lead to dominant spotting (W) or steel (Sl) phenotypes. Mgf codes for the ligand of the receptor tyrosine kinase encoded by the Kit locus. KitW-v, a point mutation exerting a dominant negative effect, causes a substantial reduction in tyrosine kinase activity of the Kit receptor and leads to a characteristic pigmentation phenotype, namely dilute coat colour and a white ventral and head spot with reduced pigmentation of the feet and tail in the heterozygous animal, as well as slight anaemia. Homozygous animals lack coat pigmentation and are severely anaemic and infertile. Dct is a marker for cells of the melanoblast lineage. In order to study these cells in detail we have generated transgenic mouse lines carrying the lacZ reporter under the control of the Dct promoter and have used the embryonic expression of the reporter to identify early melanoblasts before they begin to produce pigment. Our transgenic lines have simplified the study of melanoblasts in the mouse embryo, and by crossing our mice with KitW-v mutants we have been able to identify the midgestation stages at which melanoblasts rely critically on Mgf/Kit interactions. We conclude that the survival of immature melanoblasts depends crucially upon Kit signalling up until E11, and later in development Kit plays a vital role in melanoblast proliferation. Our data do not describe a dependence upon Kit for melanoblast migration or differentiation.
神经嵴衍生的黑素细胞以及造血细胞和生殖细胞的发育受到Kit和Mgf基因的突变影响,这些突变导致显性斑点(W)或钢(Sl)表型。Mgf编码由Kit基因座编码的受体酪氨酸激酶的配体。KitW-v是一种产生显性负效应的点突变,导致Kit受体的酪氨酸激酶活性大幅降低,并导致特征性的色素沉着表型,即杂合动物的毛色变淡、腹部和头部白色斑点、足部和尾部色素沉着减少,以及轻度贫血。纯合动物缺乏被毛色素沉着,严重贫血且不育。Dct是黑素母细胞系细胞的标志物。为了详细研究这些细胞,我们构建了在Dct启动子控制下携带lacZ报告基因的转基因小鼠品系,并利用报告基因的胚胎表达来识别早期黑素母细胞,即在它们开始产生色素之前。我们的转基因品系简化了对小鼠胚胎中黑素母细胞的研究,通过将我们的小鼠与KitW-v突变体杂交,我们能够确定黑素母细胞严重依赖Mgf/Kit相互作用的妊娠中期阶段。我们得出结论,未成熟黑素母细胞的存活在E11之前关键取决于Kit信号传导,而在发育后期Kit在黑素母细胞增殖中起重要作用。我们的数据并未描述黑素母细胞迁移或分化对Kit的依赖性。