Journal
MOLECULAR BIOLOGY AND EVOLUTION
Volume 33, Issue 2, Pages 316-322Publisher
OXFORD UNIV PRESS
DOI: 10.1093/molbev/msv215
Keywords
transcription factor binding site; human evolution; Neandertal; modern humans; single nucleotide changes
Funding
- Paul G. Allen Family Foundation
- Max Planck Society
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We analyze 25 previously identified transcription factor binding sites that carry DNA sequence changes that are present in all or nearly all present-day humans, yet occur in the ancestral state in Neandertals and Denisovans, the closest evolutionary relatives of humans. When the ancestral and derived forms of the transcription factor binding sites are tested using reporter constructs in 3 neuronal cell lines, the activity of 12 of the derived versions of transcription factor binding sites differ from the respective ancestral variants. This suggests that the majority of this class of evolutionary differences between modern humans and Neandertals may affect gene expression in at least some tissue or cell type.
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