期刊
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 17
卷 17, 期 -, 页码 45-67出版社
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-090314-045935
关键词
gene expression; development; epigenetics; genome editing; human accelerated regions; induced pluripotent stem cell; iPSC
资金
- NIGMS NIH HHS [R01 GM094780] Funding Source: Medline
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM094780] Funding Source: NIH RePORTER
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.
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