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Curr Opin Genet Dev. 2014 Dec;29:45-51. doi: 10.1016/j.gde.2014.08.001. Epub 2014 Aug 29.

Advantageous diversity maintained by balancing selection in humans.

Author information

1
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany.
2
Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany. Electronic address: aida_andres@eva.mpg.de.

Abstract

Most human polymorphisms are neutral or slightly deleterious, but some genetic variation is advantageous and maintained in populations by balancing selection. Considered a rarity and overlooked for years, balanced polymorphisms have recently received renewed attention with several lines of evidence showing their relevance in human evolution. From theoretical work on its role in adaptation to empirical studies that identify its targets, recent developments have showed that balancing selection is more prevalent than previously thought. Here we review these developments and discuss their implications in our understanding of the influence of balancing selection in human evolution. We also review existing evidence on the biological functions that benefit most from advantageous diversity, and the functional consequences of these variants. Overall, we argue that balancing selection must be considered an important selective force in human evolution.

PMID:
25173959
DOI:
10.1016/j.gde.2014.08.001
[Indexed for MEDLINE]
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