Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran.
Gorgan Congenital Malformations Research Center, Golestan University of Medical Sciences, Gorgan, Iran.
J Cell Physiol. 2020 Dec;235(12):8972-8982. doi: 10.1002/jcp.29824. Epub 2020 Jun 2.
Eye color is determined as a polymorphism and polygenic trait. Brown is the most common eye color in the world, accounting for about 79%, blue eye color for about 8-10%, hazel for 5%, and green for 2%. Rare-colored eyes include gray and red/violet. Different factors are involved in determining eye color. The two most important factors are the iris pigment and the way light is scattered from the iris. Gene expression determines the iris pigmentation and how much melanin is present in the eye, which is the number of melanin subunits that identify eye color. The genes involved in the pigmentation of single-nucleotide polymorphism (SNP) have a significant role; and even some genes are included only in the eye color through SNP. MicroRNAs also affect melanocyte synthesis, which is usually affected by the downregulation of essential genes involved in pigmentation. In this study, we assess the biochemical pathways of melanin synthesis, and the role of each gene in this pathway also has been examined in the signaling pathway that stimulates melanin synthesis.
眼睛颜色是由多态性和多基因性状决定的。棕色是世界上最常见的眼睛颜色，约占 79%，蓝色眼睛颜色约占 8-10%，淡褐色约占 5%，绿色约占 2%。罕见的眼睛颜色包括灰色和红色/紫色。有许多不同的因素参与决定眼睛的颜色。两个最重要的因素是虹膜色素和光从虹膜散射的方式。基因表达决定了虹膜的色素沉着，以及眼睛中存在多少黑色素，这是确定眼睛颜色的黑色素亚单位的数量。涉及单核苷酸多态性（SNP）的基因表达在色素沉着中起着重要作用；甚至有些基因仅通过 SNP 包含在眼睛颜色中。MicroRNAs 也会影响黑色素细胞的合成，黑色素细胞的合成通常受到涉及色素沉着的必需基因下调的影响。在这项研究中，我们评估了黑色素合成的生化途径，以及该途径中每个基因在刺激黑色素合成的信号通路中的作用。
