Débora R. Sobreira

TL;DR: It is shown that the obesity-associated noncoding sequences within FTO are functionally connected, at megabase distances, with the homeobox gene IRX3, and long-range enhancers within this region recapitulate aspects of IRx3 expression, suggesting that the Obesity-associated interval belongs to the regulatory landscape ofIRX3.

TL;DR: It is proposed that Mediator's structural pliability enables it to integrate and transmit regulatory signals and act as a functional, rather than an architectural bridge, between promoters and enhancers.

TL;DR: Overall, these data support a central role for DNA methylation in lung cells, which promotes distinct molecular pathways of asthma pathogenesis and modulates the effects of genetic variation on disease risk and clinical heterogeneity.

TL;DR: High-resolution promoter capture Hi-C maps in human induced pluripotent stem cells and iPSC-derived cardiomyocytes provide a resource for identifying and prioritizing the functional targets of CVD associations and validate these maps by demonstrating that promoters preferentially contact distal sequences enriched for tissue-specific transcription factor motifs and are enriched for chromatin marks that correlate with dynamic changes in gene expression.

TL;DR: It is shown that multiple variants on a common haplotype modify the regulatory properties of several enhancers targeting IRX3 and IRX5 from megabase distances, and it is demonstrated that these enhancers affect gene expression in multiple tissues, including adipose and brain, and impart regulatory effects during a restricted temporal window.