State Key Laboratory of Animal Nutrition; Key Laboratory of Animal (Poultry) Genetics Breeding and Reproduction, Ministry of Agriculture and Rural Affairs, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing, 100193, China.
Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, College of Animal Science and Technology, Sichuan Agricultural University, Chengdu, 613000, China.
BMC Genomics. 2022 Mar 26;23(1):236. doi: 10.1186/s12864-022-08444-5.
Skin pigmentation is a broadly appearing phenomenon of most animals and humans in nature. Here we used a bird model to investigate why melanin spot deposits on the skin.
Our result showed that growth age and the sunlight might induce melanin deposition in bird beak skin which was determined by genetic factors. GWAS helped us to identify two major loci affecting melanin deposition, located on chromosomes 13 and 25, respectively. The fine mapping works narrowed the candidate regions to 0.98 Mb and 1.0 Mb on chromosomes 13 and 25. The MITF and POU2F3 may be the causative genes and synergistically affect melanin deposition during duck beak skin. Furthermore, our data strongly demonstrated that the pathway of melanin metabolism contributes to melanin deposition on the skin.
We demonstrated that age and sunlight induce melanin deposition in bird beak skin, while heredity is fundamental. The MITF and POU2F3 likely played a synergistic effect on the regulation of melanin synthesis, and their mutations contribute to phenotypic differences in beak melanin deposition among individuals. It is pointed out that melanin deposition in the skin is related to the pathway of melanin metabolism, which provided insights into the molecular regulatory mechanisms and the genetic improvement of the melanin deposition in duck beak.
皮肤色素沉着是自然界中大多数动物和人类普遍存在的现象。在这里，我们使用鸟类模型来研究为什么黑色素会沉积在鸟喙的皮肤上。
我们的结果表明，生长年龄和阳光可能会导致鸟喙皮肤中的黑色素沉积，这是由遗传因素决定的。全基因组关联分析（GWAS）帮助我们确定了两个主要的影响黑色素沉积的基因座，分别位于 13 号和 25 号染色体上。精细定位工作将候选区域缩小到 13 号和 25 号染色体上的 0.98Mb 和 1.0Mb。MITF 和 POU2F3 可能是导致黑色素沉积的候选基因，并在鸭喙皮肤黑色素沉积过程中协同作用。此外，我们的数据有力地证明了黑色素代谢途径有助于皮肤黑色素的沉积。
我们证明了年龄和阳光会诱导鸟类喙部皮肤中的黑色素沉积，而遗传是基础。MITF 和 POU2F3 可能在黑色素合成的调控中发挥协同作用，它们的突变导致了喙部黑色素沉积的个体间表型差异。值得指出的是，皮肤中的黑色素沉积与黑色素代谢途径有关，这为黑色素沉积的分子调控机制和鸭喙黑色素沉积的遗传改良提供了新的思路。
