The application of molecular genetic approaches to the study of human evolution

Nat Genet. 2003 Mar:33 Suppl:266-75. doi: 10.1038/ng1113.


The past decade of advances in molecular genetic technology has heralded a new era for all evolutionary studies, but especially the science of human evolution. Data on various kinds of DNA variation in human populations have rapidly accumulated. There is increasing recognition of the importance of this variation for medicine and developmental biology and for understanding the history of our species. Haploid markers from mitochondrial DNA and the Y chromosome have proven invaluable for generating a standard model for evolution of modern humans. Conclusions from earlier research on protein polymorphisms have been generally supported by more sophisticated DNA analysis. Co-evolution of genes with language and some slowly evolving cultural traits, together with the genetic evolution of commensals and parasites that have accompanied modern humans in their expansion from Africa to the other continents, supports and supplements the standard model of genetic evolution. The advances in our understanding of the evolutionary history of humans attests to the advantages of multidisciplinary research.

Publication types

  • Historical Article
  • Review

MeSH terms

  • Animals
  • DNA, Mitochondrial / genetics
  • Evolution, Molecular*
  • Female
  • Genetic Markers
  • Genetic Variation
  • Genetics, Population
  • Genome, Human
  • Haploidy
  • History, 20th Century
  • History, 21st Century
  • Hominidae / genetics*
  • Humans
  • Male
  • Molecular Biology* / history
  • Molecular Biology* / trends
  • Pedigree
  • Phylogeny
  • Population Dynamics


  • DNA, Mitochondrial
  • Genetic Markers