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From enhanceropathies to the epigenetic manifold underlying human cognition.

08:00 EDT 14th August 2019 | BioPortfolio

Summary of "From enhanceropathies to the epigenetic manifold underlying human cognition."

A vast portion of intellectual disability and autism spectrum disorders is genetically caused by mutations in chromatin modulators. These proteins play key roles in development and are also highly expressed in the adult brain. Specifically, the pivotal role of chromatin regulation in transcription has placed enhancers at the core of neurodevelopmental disorders studies, ushering in the coining of the term enhanceropathies. The convergence of these disorders is multilayered, spanning from molecular causes to pathophysiological traits, including extensive overlaps between enhanceropathies and neurocristopathies. The reconstruction of epigenetic circuitries wiring development and underlying cognitive functions has gone hand in hand with the development of tools that increase the sensitivity of identifying regulatory regions and linking enhancers to their target genes. The available models, including loop-extrusion and phase-separation, have been bringing into relief complementarity aspects to interpret gene regulation datasets, reinforcing the idea that enhancers are not all the same and that regulatory regions possess shades of enhancer-ness and promoter-ness. The current limits in enhancer definition, within the emerging broader understanding of chromatin dynamics in time and space, are now on the verge of beingh transformed by the possibility to interrogate developmentally relevant 3D cellular models at single-cell resolution and. Here we discuss the contours of how these technological advances, and the epistemic limitationa thay are set to overcome, may well usher in a change of paradigm for neurodevelopmental disorders, moving the quest for convergence from enhancers to the 4D genome.

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Name: Human molecular genetics
ISSN: 1460-2083
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