How does the 3D genome evolve? To what extent is the spatial organization of the genome evolutionary conserved? We have been using a comparative genomics approach in combination with functional genomics, to answer these and other questions. We find that the human genome includes similar portions of evolutionary conserved and recently evolved (i.e. human-specific) topologically associated domains (TADs), which display different epigenetic characteristics and encompass genes enriched for distinct functions. Specifically, we find that while ultraconserved TADs are enriched in developmental genes, human-specific TADs are enriched in genes involved in synapse assembly and might have contributed to the development of the human brain. Our study demonstrates the importance of studying the evolution of genome conformation and highlights possible implications to human evolution and disease.
