The phenotypic consequence of 3D genome boundary disruption on developmental processes remains insufficiently understood. Here, the authors show that perturbation of a SOX17 boundary in human pluripotent stem cells interferes with proper differentiation and that germline variations affecting such boundaries are subject to selection, resulting in underrepresentation in the human population.
- Hua-Jun Wu
- Alexandro Landshammer
- Franziska Michor