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Molecular and biochemical mechanisms of human iris color: A comprehensive review.
Journal of Cellular Physiology ( IF 4.5 ) Pub Date : 2020-06-02 , DOI: 10.1002/jcp.29824
Saeed Dorgaleleh 1 , Karim Naghipoor 1 , Ahmad Barahouie 1 , Farzad Dastaviz 1 , Morteza Oladnabi 2, 3, 4
Affiliation  

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.

中文翻译:

人类虹膜颜色的分子和生化机制:全面审查。

眼睛的颜色被确定为多态性和多基因性状。棕色是世界上最常见的眼睛颜色,约占79%,蓝色的眼睛约占8-10%,淡褐色占5%,绿色约2%。稀有色的眼睛包括灰色和红色/紫色。确定眼睛颜色涉及不同的因素。两个最重要的因素是虹膜色素和光从虹膜散射的方式。基因表达决定虹膜色素沉着以及眼睛中黑色素的含量,黑色素是识别眼睛颜色的黑色素亚基的数量。涉及单核苷酸多态性(SNP)色素沉着的基因具有重要作用。甚至有些基因通过SNP仅包含在眼睛的颜色中。MicroRNA也影响黑色素细胞的合成,通常受色素沉着相关基因下调的影响。在这项研究中,我们评估了黑色素合成的生化途径,并且在刺激黑色素合成的信号传导途径中也已经检验了每个基因在该途径中的作用。
更新日期:2020-06-02
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