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Science 9 September 2005:
Vol. 309. no. 5741, pp. 1720 - 1722
DOI: 10.1126/science.1116815
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Reports

Ongoing Adaptive Evolution of ASPM, a Brain Size Determinant in Homo sapiens

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

The gene ASPM (abnormal spindle-like microcephaly associated) is a specific regulator of brain size, and its evolution in the lineage leading to Homo sapiens was driven by strong positive selection. Here, we show that one genetic variant of ASPM in humans arose merely about 5800 years ago and has since swept to high frequency under strong positive selection. These findings, especially the remarkably young age of the positively selected variant, suggest that the human brain is still undergoing rapid adaptive evolution.

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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