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Curr Opin Genet Dev. 2014 Dec;29:1-8. doi: 10.1016/j.gde.2014.06.011. Epub 2014 Aug 15.

Adaptations to local environments in modern human populations.

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Department of Human Genetics, University of Chicago, Chicago, IL, 60637, United States.
Department of Human Genetics, University of Chicago, Chicago, IL, 60637, United States. Electronic address:


After leaving sub-Saharan Africa around 50000-100000 years ago, anatomically modern humans have quickly occupied extremely diverse environments. Human populations were exposed to further environmental changes resulting from cultural innovations, such as the spread of farming, which gave rise to new selective pressures related to pathogen exposures and dietary shifts. In addition to changing the frequency of individual adaptive alleles, natural selection may also shape the overall genetic architecture of adaptive traits. Here, we review recent advances in understanding the genetic architecture of adaptive human phenotypes based on insights from the studies of lactase persistence, skin pigmentation and high-altitude adaptation. These adaptations evolved in parallel in multiple human populations, providing a chance to investigate independent realizations of the evolutionary process. We suggest that the outcome of adaptive evolution is often highly variable even under similar selective pressures. Finally, we highlight a growing need for detecting adaptations that did not follow the classical sweep model and for incorporating new sources of genetic evidence such as information from ancient DNA.

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