Send to

Choose Destination
See comment in PubMed Commons below
Annu Rev Genomics Hum Genet. 2016 Aug 31;17:45-67. doi: 10.1146/annurev-genom-090314-045935. Epub 2016 Apr 21.

Evolution of Gene Regulation in Humans.

Author information

Department of Genetics, Yale School of Medicine, New Haven, Connecticut 06510; email:
Department of Ecology and Evolutionary Biology, Yale University, New Haven, Connecticut 06511.
Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, Connecticut 06510.


As a species, we possess unique biological features that distinguish us from other primates. Here, we review recent efforts to identify changes in gene regulation that drove the evolution of novel human phenotypes. We discuss genotype-directed comparisons of human and nonhuman primate genomes to identify human-specific genetic changes that may encode new regulatory functions. We also review phenotype-directed approaches, which use comparisons of gene expression or regulatory function in homologous human and nonhuman primate cells and tissues to identify changes in expression levels or regulatory activity that may be due to genetic changes in humans. Together, these studies are beginning to reveal the landscape of regulatory innovation in human evolution and point to specific regulatory changes for further study. Finally, we highlight two novel strategies to model human-specific regulatory functions in vivo: primate induced pluripotent stem cells and the generation of humanized mice by genome editing.


development; epigenetics; gene expression; genome editing; human accelerated regions; iPSC; induced pluripotent stem cell

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Atypon
    Loading ...
    Support Center