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Science 9 September 2005:
Vol. 309. no. 5741, pp. 1717 - 1720
DOI: 10.1126/science.1113722
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Reports

Microcephalin, a Gene Regulating Brain Size, Continues to Evolve Adaptively in Humans

Patrick D. Evans,1,2 Sandra L. Gilbert,1 Nitzan Mekel-Bobrov,1,2 Eric J. Vallender,1,2 Jeffrey R. Anderson,1 Leila M. Vaez-Azizi,1 Sarah A. Tishkoff,4 Richard R. Hudson,3 Bruce T. Lahn1*

The gene Microcephalin (MCPH1) regulates brain size and has evolved under strong positive selection in the human evolutionary lineage. We show that one genetic variant of Microcephalin in modern humans, which arose ~37,000 years ago, increased in frequency too rapidly to be compatible with neutral drift. This indicates that it has spread under strong positive selection, although the exact nature of the selection is unknown. The finding that an important brain gene has continued to evolve adaptively in anatomically modern humans suggests the ongoing evolutionary plasticity of the human brain. It also makes Microcephalin an attractive candidate locus for studying the genetics of human variation in brain-related phenotypes.

1 Howard Hughes Medical Institute, Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
2 Committee on Genetics, University of Chicago, Chicago, IL 60637, USA.
3 Department of Ecology and Evolution, University of Chicago, Chicago, IL 60637, USA.
4 Department of Biology, University of Maryland, College Park, MD 20742, USA.

* To whom correspondence should be addressed. E-mail: blahn{at}bsd.uchicago.edu

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