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Enhancers as regulatory hubs in mammalian embryogenesis and human congenital disease

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The establishment of cell type-specific gene expression programs largely depends on a group of distal cis-regulatory elements broadly referred to as enhancers. By serving as binding platforms for transcription factors, enhancers can integrate signalling and epigenetic cues in order to exquisitely control the expression of their target genes. Furthermore, accumulating evidences suggest that changes in the regulatory activity or topology of enhancer landscapes due to genetic or structural variation, respectively, can represent a major cause of human disease. During my talk I will show how, by functionally and mechanistically characterizing developmental enhancers, my laboratory aims at (i) uncovering transcriptional regulatory principles orchestrating mammalian embryogenesis and (ii) elucidating the genetic and epigenetic basis of human congenital diseases.

This talk is part of the Seminars on Quantitative Biology @ CRUK Cambridge Institute series.

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