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MBE Advance Access originally published online on July 16, 2009
Molecular Biology and Evolution 2009 26(10):2181-2184; doi:10.1093/molbev/msp143
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© The Author 2009. 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

Letters

Linkage Disequilibrium Extends Across Putative Selected Sites in FOXP2

Susan E. Ptak*,1, Wolfgang Enard*,1, Victor Wiebe*, Ines Hellmann{dagger},2, Johannes Krause*, Michael Lachmann* and Svante Pääbo*

* Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany
{dagger} Department of Integrative Biology, University of California

E-mail: ptak{at}eva.mpg.de.

Accepted for publication July 1, 2009.

Polymorphism data in humans suggest that the gene encoding the transcription factor FOXP2, which influences speech and language development, has been subject to a selective sweep within the last 260,000 years. It has been proposed that one or both of two substitutions that occurred on the human evolutionary lineage and changed amino acids were the targets for selection. In apparent contradiction to this is the observation that these substitutions are present in Neandertals who diverged from humans maybe 300,000–400,000 years ago. We have collected polymorphism data upstream and downstream of the substitutions. Contrary to what is expected, following a selective sweep, we find that the haplotypes extend across the two sites. We discuss possible explanations for these observations. One of them is that the selective sweep reflected in FOXP2 polymorphism data was not associated with the two amino acid substitutions.

Key Words: evolution • selection • linkage disequilibrium • FOXP2 • human

1 These authors contributed equally.

2 Present address: Max F. Perutz Laboratories, Vienna, Austria.

Hideki Innan, Associate Editor


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