Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation

Biol Open. 2021 Feb 9;10(2):bio056523. doi: 10.1242/bio.056523.

Abstract

Human pigmentation is a highly diverse and complex trait among populations and has drawn particular attention from both academic and non-academic investigators for thousands of years. Previous studies detected selection signals in several human pigmentation genes, but few studies have integrated contribution from multiple genes to the evolution of human pigmentation. Moreover, none has quantified selective pressures on human pigmentation over epochs and between populations. Here, we dissect dynamics and differences of selective pressures during different periods and between distinct populations with new approaches. We use genotype data of 19 genes associated with human pigmentation from 17 publicly available datasets and obtain data for 2346 individuals of six representative population groups from across the world. Our results quantify the strength of natural selection on light pigmentation not only in modern Europeans (0.0259/generation) but also in proto-Eurasians (0.00650/generation). Our results also suggest that several derived alleles associated with human dark pigmentation may be under positive directional selection in some African populations. Our study provides the first attempt to quantitatively investigate the dynamics of selective pressures during different time periods in the evolution of human pigmentation.This article has an associated First Person interview with the first author of the article.

Keywords: Complex traits; Human evolution; Human pigmentation; Natural selection; Population genetics.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Biological Evolution*
  • Databases, Genetic
  • Genetic Variation
  • Genetics, Population
  • Humans
  • Models, Genetic
  • Multifactorial Inheritance
  • Polymorphism, Single Nucleotide
  • Selection, Genetic*
  • Skin Pigmentation* / genetics