title: Functional Analyses of Transcription Factor Binding Sites that Differ between Present-Day and Archaic Humans.
abstract: 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.
authors.affiliation: Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany sven_weyer@eva.mpg.de.
authors.forename: Sven
authors.initials: S
authors.lastname: Weyer
authors.affiliation: Department of Evolutionary Genetics, Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany.
authors.forename: Svante
authors.initials: S
authors.lastname: Pääbo
mesh_terms: D000483:Alleles; D001665:Binding Sites; D002460:Cell Line; D019143:Evolution, Molecular; D014644:Genetic Variation; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000378:metabolism*; D015533:Transcriptional Activation
chemical_list: D014157:Transcription Factors
keywords: Neandertal; human evolution; modern humans; single nucleotide changes; transcription factor binding site