A recent evolutionary change affects a regulatory element in the human FOXP2 gene.

Bibliographic Collection: 
CARTA-Inspired Publication
Publication Type: Journal Article
Authors: Maricic, T; Günther, V; Georgiev, O; Gehre, S; Curlin, M; Schreiweis, C; Naumann, R; Burbano, HA; Meyer, M; Lalueza-Fox, C; de la Rasilla, M; Rosas, A; Gajovic, S; Kelso, J; Enard, W; Schaffner, W; Pääbo, S
Year of Publication: 2013
Journal: Mol Biol Evol
Volume: 30
Number: 4
Pagination: 844-52
Date Published: Apr
Publication Language: eng
ISBN Number: 0737-4038
Accession Number: 23197593

The FOXP2 gene is required for normal development of speech and language. By isolating and sequencing FOXP2 genomic DNA fragments from a 49,000-year-old Iberian Neandertal and 50 present-day humans, we have identified substitutions in the gene shared by all or nearly all present-day humans but absent or polymorphic in Neandertals. One such substitution is localized in intron 8 and affects a binding site for the transcription factor POU3F2, which is highly conserved among vertebrates. We find that the derived allele of this site is less efficient than the ancestral allele in activating transcription from a reporter construct. The derived allele also binds less POU3F2 dimers than POU3F2 monomers compared with the ancestral allele. Because the substitution in the POU3F2 binding site is likely to alter the regulation of FOXP2 expression, and because it is localized in a region of the gene associated with a previously described signal of positive selection, it is a plausible candidate for having caused a recent selective sweep in the FOXP2 gene.

Author Address:

Department of Evolutionary Genetics, Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany. tomislav_maricic@eva.mpg.de