Population-specific links between heterozygosity and the rate human microsatellite evolution

J Mol Evol. 2011 Feb;72(2):215-21. doi: 10.1007/s00239-010-9423-2. Epub 2010 Dec 15.


Microsatellites form an abundant class of DNA sequences used widely as genetic markers. Surprisingly, the length of human microsatellites varies highly predictably with distance from Africa, apparently following the linear decline in variability that arose as we colonised the world. Such patterns have been used to argue that heterozygosity modulates the rate of microsatellite evolution. Here I test the ensuing prediction that variation in demographic history will cause individual populations predictably either to lead or to lag any given trend in length. I find that they do: larger populations with locally higher heterozygosity have microsatellites that are longer when a locus is expanding and shorter when a locus is contracting. These patterns remain even after controlling for the stepwise way in which heterozygosity and allele lengths decline across the world. This analysis provides support for a strongly discontinuous model for how human genetic variability is distributed and shows how individual populations differ in the average rate their microsatellites are evolving. Such patterns have the potential to provide a new window onto historical demography.

MeSH terms

  • Africa
  • Demography
  • Evolution, Molecular*
  • Genetic Drift
  • Genetic Variation
  • Genotype
  • Heterozygote*
  • Humans
  • Microsatellite Repeats / genetics*
  • Models, Genetic
  • Phylogeography