title: Linkage disequilibrium extends across putative selected sites in FOXP2.
abstract: 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.
authors.forename: Susan E
authors.initials: SE
authors.lastname: Ptak
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Enard
authors.forename: Victor
authors.initials: V
authors.lastname: Wiebe
authors.forename: Ines
authors.initials: I
authors.lastname: Hellmann
authors.forename: Johannes
authors.initials: J
authors.lastname: Krause
authors.forename: Michael
authors.initials: M
authors.lastname: Lachmann
authors.forename: Svante
authors.initials: S
authors.lastname: Pääbo
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*
chemical_list: C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors