Regulatory DNAs and the evolution of human development

Abstract

Changes in gene regulation have long been thought to underlie biological differences between humans and other primates. Recent advances have facilitated the study of human-specific sequence changes in regulatory DNAs in the context of human development. Comparative genomic analyses coupled with genome-wide in vivo developmental enhancer screens have identified thousands of known and likely regulatory elements in the genome. These have provided the substrate for statistical and experimental identification of regulatory sequences with human-specific developmental activities. On the basis of these early results, the outlines of an integrated strategy have emerged that combines gene expression atlases of human development, in vivo reverse genetic studies of regulatory DNAs, and maps of human-specific sequence change to reveal the genetic basis of unique human biology.