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Breaking enhancers to gain insights into developmental defects

Armendariz, Daniel A ; Sundarrajan, Anjana ; Hon, Gary C

eLife, 2023-07, Vol.12 [Periódico revisado por pares]

England: eLife Science Publications, Ltd

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Título:
Breaking enhancers to gain insights into developmental defects
Autor: Armendariz, Daniel A ; Sundarrajan, Anjana ; Hon, Gary C
Assuntos: CRISPR ; development ; Developmental Biology ; Developmental disabilities ; Disease ; Enhancer Elements, Genetic - genetics ; Enhancers ; Gene expression ; Genes ; Genetic aspects ; genetic diseases ; Genetics and Genomics ; Genomes ; Genomics ; Hemoglobin ; Medical research ; Medicine, Experimental ; Molecular modelling ; Morphology ; Mutation ; Phenotypes ; Review
É parte de: eLife, 2023-07, Vol.12
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-3
content type line 23
ObjectType-Review-2
These authors contributed equally to this work.
Descrição: Despite ground-breaking genetic studies that have identified thousands of risk variants for developmental diseases, how these variants lead to molecular and cellular phenotypes remains a gap in knowledge. Many of these variants are non-coding and occur at enhancers, which orchestrate key regulatory programs during development. The prevailing paradigm is that non-coding variants alter the activity of enhancers, impacting gene expression programs, and ultimately contributing to disease risk. A key obstacle to progress is the systematic functional characterization of non-coding variants at scale, especially since enhancer activity is highly specific to cell type and developmental stage. Here, we review the foundational studies of enhancers in developmental disease and current genomic approaches to functionally characterize developmental enhancers and their variants at scale. In the coming decade, we anticipate systematic enhancer perturbation studies to link non-coding variants to molecular mechanisms, changes in cell state, and disease phenotypes.
Editor: England: eLife Science Publications, Ltd
Idioma: Inglês

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Breaking enhancers to gain insights into developmental defects

Armendariz, Daniel A ; Sundarrajan, Anjana ; Hon, Gary C

England: eLife Science Publications, Ltd

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