Molecular and biochemical mechanisms of human iris color: A comprehensive review
- 2 June 2020
- journal article
- review article
- Published by Wiley in Journal of Cellular Physiology
- Vol. 235 (12), 8972-8982
- https://doi.org/10.1002/jcp.29824
Abstract
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.Funding Information
- Congenital Malformations Research Center, Research and the Technology Department of Golestan University of Medical Sciences, Gorgan, Iran (950616118)
This publication has 46 references indexed in Scilit:
- Determination of Melanin Synthetic PathwaysJournal of Investigative Dermatology, 2011
- Gene–gene interactions contribute to eye colour variation in humansJournal of Human Genetics, 2011
- Tyrosinase related protein 1 (TYRP1/gp75) in human cutaneous melanomaMolecular Oncology, 2011
- Digital Quantification of Human Eye Color Highlights Genetic Association of Three New LociPLoS Genetics, 2010
- Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color GeneAmerican Journal of Human Genetics, 2008
- Genetic determinants of hair, eye and skin pigmentation in EuropeansNature Genetics, 2007
- Melanin in human irides of different color and age of donorsPigment Cell Research, 2005
- Structures of the Agouti Signaling ProteinJournal of Molecular Biology, 2005
- Population Differences in the Frequency of the Agouti Signaling Protein g.8818A>G PolymorphismPigment Cell Research, 2004
- Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotypeHuman Genetics, 2003