背景:关于马皮肤色素沉着的分子遗传学研究通常集中在非常少的基因和蛋白质上。在这项研究中,我们使用Illumina测序来确定白色外套马和黑色外套马的全球基因表达谱,目的是鉴定可以调节马毛颜色的新基因。
结果:编码核糖体相关蛋白的基因在马皮肤中高表达。我们发现总共有231个单基因在白毛马和黑毛马之间差异表达;119个下调,和112上调。黑马中许多上调的基因,例如与酪氨酸代谢有关的基因,可以直接调节深色外套的颜色。角蛋白基因,MIA家族基因,脂肪酸相关基因,和黑素瘤相关基因也有差异调节,这表明它们可能在涂层颜色形成中起重要作用。
结论:这些发现表明,来自白马和黑马皮肤的转录谱为了解马皮肤黑色素合成控制的遗传学提供了有用的信息,这可以提高我们对人类皮肤病的认识,如黑色素瘤和白化病。
BACKGROUND: Studies on the molecular genetics of horse skin pigmentation have typically focused on very few genes and proteins. In this study, we used Illumina sequencing to determine the global gene expression profiles in horses with white-colored coats and those with black-colored coats, with the goal of identifying novel genes that could regulate horse coat color.
RESULTS: Genes encoding ribosomal-associated proteins were highly expressed in horse skin. We found a total of 231 unigenes that were differentially expressed between horses with white coats and horses with black coats; 119 were down-regulated, and 112 were up-regulated. Many of the up-regulated genes in black horses, such as genes related to tyrosine metabolism, may directly regulate dark coat color. Keratin genes, MIA family genes, fatty acid-related genes, and melanoma-associated genes were also differentially regulated, which suggests that they may play important roles in coat color formation.
CONCLUSIONS: These findings show that the transcription profiles from white and black horse skin provide useful information to understand the genetics underlying the control of skin melanin synthesis in horses, which may enhance our knowledge of human skin diseases, such as melanoma and albinism.