The underwhite (uw) locus acts autonomously and reduces the production of melanin
The underwhite (uw) locus acts autonomously and reduces the production of melanin
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DOI：
10.1046/j.1523-1747.2000.00107.x
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发表时间：
2000-10-01
影响因子：
6.5
通讯作者：
Brilliant, MH
中科院分区：
文献类型：
--
作者：
Lehman, AL;Silvers, WK;Brilliant, MH
小鼠提供了几种重要的色素减退障碍模型，包括白化病的主要形式。在小鼠underwhite基因座的突变赋予最严重的色素减退表型之一，类似于在粉眼稀释基因座的突变，这是2型眼皮肤白化病的模型。从underwhite突变小鼠中建立的黑素细胞系在支持野生型黑素细胞产生色素的条件下不能色素化，而从underwhite皮肤移植物移植的成黑素细胞在正常皮肤中不能产生黑色素，这表明由underwhite位点编码的基因的作用是黑素细胞固有的。在白色基因座和粉红色眼睛稀释基因座或黑皮质素受体1基因座突变的小鼠表现出更严重的色素减退比单独突变，这表明这些基因的作用是独立的。这些结果表明，在白色基因座是哺乳动物色素沉着的主要决定因素。
The mouse has provided several significant models for hypopigmentation disorders, including the major forms of albinism. Mutations at the mouse underwhite locus confer one of the most severe hypopigmentation phenotypes, similar to mutations at the pink-eyed dilution locus that is a model for type 2 oculocutaneous albinism. A melanocyte cell line established from underwhite mutant mice failed to pigment under conditions that support pigment production in wild-type melanocytes and melanoblasts from underwhite skin graft transplants failed to produce melanin in normal skin, demonstrating that the action of the gene encoded by the underwhite locus is intrinsic to melanocytes. Mice with mutations at the underwhite locus and either the pink-eyed dilution locus or the melanocortin receptor 1 locus exhibited more severe hypopigmentation than either mutation alone, suggesting that the actions of these genes are independent. These results demonstrate that the underwhite locus is a major determinant of mammalian pigmentation.