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Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Mus musculus Homo sapiens

PROVIDER: GSE183674 | GEO | 2022/06/30

REPOSITORIES: GEO

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Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster.

Project description:Sequence variants in cis-acting enhancers are important for polygenic disease, but their role in Mendelian disease is poorly understood. Redundancy between enhancers that regulate the same gene is thought to mitigate the pathogenic impact of enhancer mutations. Recent findings, however, have shown that loss-of-function mutations in a single enhancer near PTF1A cause pancreas agenesis and neonatal diabetes. Using mouse and human genetic models, we show that this enhancer activates an entire PTF1A enhancer cluster in early pancreatic multipotent progenitors. This leading role, therefore, precludes functional redundancy. We further demonstrate that transient expression of PTF1A in multipotent progenitors sets in motion an epigenetic cascade that is required for duct and endocrine differentiation. These findings shed insights into the genome regulatory mechanisms that drive pancreas differentiation. Furthermore, they reveal an enhancer that acts as a regulatory master key and is thus vulnerable to pathogenic loss-of-function mutations.

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Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster

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Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster

Project description:Genome-wide maps of H3K27ac, Mediator and PTF1A binding in stage-4 human multipotent pancreatic progenitor cells

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