Antonella Rauseo

Temporal constraints on enhancer usage shape the regulation of limb gene transcription

The paper investigates how temporally restricted enhancer repertoires regulate gene expression during limb development in mice and shows that enhancer-promoter interactions dynamically change over time.

Liebenberg syndrome severity arises from variations in Pitx1 locus topology and ectopically transcribing cells

This study shows that variations in enhancer-promoter interactions at the Pitx1 locus lead to pathogenic activation in variable cell proportions, defining phenotypic severity in Liebenberg syndrome.

Chondrogenic Enhancer Landscape of Limb and Axial Skeleton Development

The paper maps chondrogenic enhancers in limb and axial skeleton development and shows their role in explaining human height heritability.

CONTEXT-DEPENDENT ENHANCER FUNCTION REVEALED BYTARGETED INTER-TAD RELOCATION

The paper shows that enhancer function depends on their chromatin context by relocating a distal limb enhancer into a proximal limb TAD, where it loses its distal specificity.

Cell-specific alterations in Pitx1 regulatory landscape activation caused by the loss of a single enhancer

The paper shows that deleting one enhancer of the Pitx1 gene leads to altered cell-specific expression patterns and a clubfoot phenotype due to disrupted enhancer coordination and chromatin changes.