doi:10.1016/j.tig.2009.12.010
Review
Gene regulation and the origins of human biological uniqueness
Samuel J. Sholtis1 and James P. Noonan1, 2,
1 Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA
2 Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA
Abstract
What makes us human? It is likely that changes in gene expression and regulation, in addition to those in protein-coding genes, drove the evolution of uniquely human biological traits. In this review, we discuss how efforts to annotate regulatory functions in the human genome are being combined with maps of human-specific sequence acceleration to identify cis-regulatory elements with human-specific activity. Although the evolutionary interpretation of these events is a subject of considerable debate, the technical and analytical means are now at hand to identify the set of evolutionary genetic events that shaped our species.
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