Colorful DNA polymorphisms in humans

Semin Cell Dev Biol. 2013 Jun-Jul;24(6-7):562-75. doi: 10.1016/j.semcdb.2013.03.013. Epub 2013 Apr 12.


In this review article we summarize current knowledge on how variation on the DNA level influences human pigmentation including color variation of iris, hair, and skin. We review recent progress in the field of human pigmentation genetics by focusing on the genes and DNA polymorphisms discovered to be involved in determining human pigmentation traits, their association with diseases particularly skin cancers, and their power to predict human eye, hair, and skin colors with potential utilization in forensic investigations.

Keywords: Association; DNA polymorphisms; Forensic DNA phenotyping; Human; Pigmentation; Prediction.

Publication types

  • Review

MeSH terms

  • Color
  • DNA / genetics*
  • Humans
  • Pigmentation / genetics*
  • Polymorphism, Genetic / genetics*


  • DNA