Positive selection on brain cis-regulatory elements in the human lineage drives changes in gene expression and susceptibility to neuropsychiatric disorders.

Abstract excerpt

Human brain evolution is hypothesized to be driven primarily by regulatory rather than protein-coding changes. Identifying evolutionary changes in regulatory elements, however, has been constrained by numbers and relationships of taxa and by methodology targeting conserved sequences. These approaches are independent of any experimental assessment of function and overlook potential neofunctionalization in less...

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