The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

Distant-acting tissue-specific enhancers, which regulate gene expression, vastly outnumber
protein-coding genes in mammalian genomes, but the functional importance of this …

During embryogenesis, precise gene transcription in space and time requires that distal
enhancers and promoters communicate by physical proximity within gene regulatory …

Long-range gene regulation involves physical proximity between enhancers and promoters
to generate precise patterns of gene expression in space and time. However, in some cases …

Hedgehog (Hh) signaling is highly conserved among species and plays indispensable roles
in various developmental processes. There are three Hh members in mammals; one of …

Super-enhancers (SEs) are exceptionally large enhancers and are recognized to play
prominent roles in cell identity in mammalian species. We surveyed the genomic regions …

The regulatory specificity of enhancers and their interaction with gene promoters is thought
to be controlled by their sequence and the binding of transcription factors. By studying Pitx1 …