Evolution of lactase persistence: An example of human niche construction

Pascale Gerbault, Anke Liebert, Yuval Itan, Adam Powell, Mathias Currat, Joachim Burger, Dallas M. Swallow, Mark G. Thomas

Research output: Contribution to journalReview articlepeer-review

282 Scopus citations

Abstract

Niche construction is the process by which organisms construct important components of their local environment in ways that introduce novel selection pressures. Lactase persistence is one of the clearest examples of niche construction in humans. Lactase is the enzyme responsible for the digestion of the milk sugar lactose and its production decreases after the weaning phase in most mammals, including most humans. Some humans, however, continue to produce lactase throughout adulthood, a trait known as lactase persistence. In European populations, a single mutation (-3910*T) explains the distribution of the phenotype, whereas several mutations are associated with it in Africa and the Middle East. Current estimates for the age of lactase persistence-associated alleles bracket those for the origins of animal domestication and the culturally transmitted practice of dairying. We report new data on the distribution of -3910*T and summarize genetic studies on the diversity of lactase persistence worldwide. We review relevant archaeological data and describe three simulation studies that have shed light on the evolution of this trait in Europe. These studies illustrate how genetic and archaeological information can be integrated to bring new insights to the origins and spread of lactase persistence. Finally, we discuss possible improvements to these models.

Original languageEnglish
Pages (from-to)863-877
Number of pages15
JournalPhilosophical Transactions of the Royal Society B: Biological Sciences
Volume366
Issue number1566
DOIs
StatePublished - 27 Mar 2011
Externally publishedYes

Keywords

  • Dairying
  • Domestic animals
  • Lactase persistence
  • Natural selection
  • Neolithic
  • Niche construction

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