A curated gene list for expanding the horizons of pigmentation biology

Pigment Cell Melanoma Res. 2019 May;32(3):348-358. doi: 10.1111/pcmr.12743. Epub 2018 Nov 6.


Over the past century, studies of human pigmentary disorders along with mouse and zebrafish models have shed light on the many cellular functions associated with visible pigment phenotypes. This has led to numerous genes annotated with the ontology term "pigmentation" in independent human, mouse, and zebrafish databases. Comparisons among these datasets revealed that each is individually incomplete in documenting all genes involved in integument-based pigmentation phenotypes. Additionally, each database contained inherent species-specific biases in data annotation, and the term "pigmentation" did not solely reflect integument pigmentation phenotypes. This review presents a comprehensive, cross-species list of 650 genes involved in pigmentation phenotypes that was compiled with extensive manual curation of genes annotated in OMIM, MGI, ZFIN, and GO. The resulting cross-species list of genes both intrinsic and extrinsic to integument pigment cells provides a valuable tool that can be used to expand our knowledge of complex, pigmentation-associated pathways.

Keywords: melanin; melanocyte; pigmentation; skin.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Gene Regulatory Networks*
  • Genes / genetics*
  • Genetic Association Studies
  • Genomics / methods*
  • Humans
  • Mutation
  • Pigmentation / genetics*
  • Polymorphism, Genetic