LIGHT IS A DOMINANT MOUSE MUTATION RESULTING IN PREMATURE CELL-DEATH
LIGHT IS A DOMINANT MOUSE MUTATION RESULTING IN PREMATURE CELL-DEATH
复制标题
DOI：
10.1038/ng0692-226
复制
发表时间：
1992-06-01
期刊：
影响因子：
30.8
通讯作者：
JACKSON, IJ
中科院分区：
文献类型：
--
作者：
JOHNSON, R;JACKSON, IJ
光是小鼠棕色位点的显性突变等位基因，导致毛发仅在其尖端着色。表型是由于黑素细胞过早死亡。我们对来自Light小鼠的在该位点编码的酪氨酸酶相关蛋白-1 cDNA进行了测序，发现它包含一个与野生型不同的碱基改变，导致蛋白质从精氨酸到胱氨酸的变化。为了进一步阐明突变表型，我们研究了光小鼠皮肤中黑素细胞特异性基因的表达。我们已经证明了黑色素细胞过早死亡，但仅在色素小鼠中，表明细胞死亡是通过色素产生的固有细胞毒性介导的。
Light is a dominant mutant allele of the mouse brown locus which results in hairs pigmented only at their tips. The phenotype is due to premature melanocyte death. We have sequenced the tyrosinase-related protein-1 cDNA encoded at this locus from Light mice and found that it contains a single base alteration from wild-type, causing an Arg to Cys change in the protein. To further elucidate the mutant phenotype, we studied the expression of melanocyte specific genes in the skin of Light mice. We have demonstrated premature melanocyte death, but only in pigmented mice, indicating that the cell death is mediated through the inherent cytotoxicity of pigment production.