Gene regulatory function of endogenous retroviruses in human embryogenesis

Endogenous retroviruses (ERVs) often function as enhancers, promoters, or insulators in the host genome. However, the extent to which ERVs act redundantly with pre-existing regulatory elements or instead play unique, essential roles in gene regulation remains largely unknown.

Our previous work, using human blastoids, demonstrated that species-specific ERVs may be critical for human development. However, these studies were limited to a small number of ERV insertions. Given that the human genome contains thousands of ERVs from diverse families active during preimplantation, a key question arises: can we create a functional catalog of each ERV in the genome? Most of these insertions are unique to the primate lineage, suggesting that their systematic analysis could uncover primate-specific molecular mechanisms underlying preimplantation development.