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A Recent Evolutionary Change Affects a Regulatory Element in the Human FOXP2 Gene
2012
Molecular biology and evolution
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
doi:10.1093/molbev/mss271
pmid:23197593
fatcat:3b3w3efn3rgx3gjocvxaqpchby