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MBE Advance Access published online on April 15, 2008

Molecular Biology and Evolution, doi:10.1093/molbev/msn091
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© The Author 2008. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Letter

The Timing of Selection at the Human FOXP2 Gene

Graham Coop+,*, Kevin Bullaughey#, Francesca Luca+ and Molly Przeworski+,*

+ Dept. of Human Genetics, University of Chicago, Chicago IL 60637
# Dept. of Ecology and Evolution, University of Chicago, Chicago IL 60637

* To whom correspondence should be addressed: gcoop{at}uchicago.edu or mfp{at}uchicago.edu, tel.: 773 834 8178, fax: 773 834 0505

Received for publication March 13, 2008. Accepted for publication April 7, 2008.

Krause et al. (2007) recently examined patterns of genetic variation at FOXP2 in two Neandertals. This gene is of particular interest because it is involved in speech and language and was previously shown to harbor the signature of recent positive selection. The authors found the same two amino-acid substitutions in Neandertals as in modern humans. Assuming that these sites were the targets of selection and no interbreeding between the two groups, they concluded that selection at FOXP2 occurred before the populations split, over 300Kya. Here, we show that the data are unlikely under this scenario but may instead be consistent with low rates of gene flow between modern humans and Neandertals. We also collect additional data and introduce a modeling framework to estimate levels of modern human contamination of the Neandertal samples. We find that, depending on the assumptions, additional control experiments may be needed to rule out contamination at FOXP2.

Key Words: Selective sweep • ancient DNA • Neandertal • FOXP2


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