Related Experiment Video
Updated: Jul 19, 2025

Reverse Genetic Approach to Identify Regulators of Pigmentation using Zebrafish
Published on: March 1, 2022
A genome-wide genetic screen uncovers determinants of human pigmentation
Vivek K Bajpai1,2,3, Tomek Swigut1, Jaaved Mohammed1,2
1Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.
None:
Skin color, one of the most diverse human traits, is determined by the quantity, type, and distribution of melanin. In this study, we leveraged the light-scattering properties of melanin to conduct a genome-wide screen for regulators of melanogenesis. We identified 169 functionally diverse genes that converge on melanosome biogenesis, endosomal transport, and gene regulation, of which 135 represented previously unknown associations with pigmentation. In agreement with their melanin-promoting function, the majority of screen hits were up-regulated in melanocytes from darkly pigmented individuals. We further unraveled functions of KLF6 as a transcription factor that regulates melanosome maturation and pigmentation in vivo, and of the endosomal trafficking protein COMMD3 in modulating melanosomal pH. Our study reveals a plethora of melanin-promoting genes, with broad implications for human variation, cell biology, and medicine.
Related Concept Videos
Pigmentation
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
Epistasis
Incomplete Dominance
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Pleiotropy
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...

