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

ABSTRACT: Single cell RNA-Seq and ATAC-Seq in mouse E10.5 multipotent pancreatic progenitors (MPCs) and single cell ATAC-Seq of mouse E13.5 pancreas.

ORGANISM(S): Mus musculus

PROVIDER: GSE183673 | 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.

| S-EPMC9426562 | biostudies-literature

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

Project description:This SuperSeries is composed of the SubSeries listed below.

2022-06-30 | GSE183674 | GEO

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

2022-06-30 | GSE183672 | GEO

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

Project description:Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster

| PRJNA761660 | ENA

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

Project description: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:Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster

| PRJNA761667 | ENA

Expression anlysis of E10.5 yolk sac and E13.5 liver lineages from the wildtype mouse embryo

Project description:Single cell suspensions of E10.5 yolk sac cells and E13.5 fetal liver cells were purified by flow cytometry into the following immunophenotypically defined populations: (A) E10.5 diploid platelet-forming cells (megakaryocytic lineage, CD45-CD144-CD41high), E10.5 haematopoietic progenitor cells (CD45+CD41low), E10.5 myeloid cells (CD45+CD41low), and E10.5 endothelium (CD45-CD144+CD41-); and, (B) E13.5 megakaryocytes (CD61-enriched CD41+CD150+CD42D+), myeloid cells (CD45+CD11B+), and blast cells (CD45+CD11B-).

2014-07-27 | E-MTAB-2625 | biostudies-arrayexpress

ATAC-seq of embryonic motor neurons

Project description:ATAC-seq of Hb9:GFP e10.5 spinal motor neurons from C57/Bl6 mice

2021-06-18 | GSE178466 | GEO

Single-cell RNA-seq of mouse developing spinal cord

Project description:12 cervicothoracic sections of mouse embryos were dissected at E9.5 (2 replicates), E10.5 (2 replicates), E11.5 (2 replicates), E12.5 (3 replicates), E13.5 (3 replicates). Single-cell RNA-seq libraries were encapsulated, sequenced, aligned, and counted with the 10X Genomics’ Chromium platform and Illumina’s HiSeq 4000 platform.

2018-11-29 | E-MTAB-7320 | biostudies-arrayexpress

Ptf1a-dependent gene expression during pancreas development (TLDA part)

Project description:We first used RNA-Seq technology to explore gene expression in mouse Ptf1a^YFP/+ [het] FACS sorted cells at E11.5 (early pancreatic Multipotent Progenitor Cells) and E15.5 (nascent acinar cells) as well as in Ptf1a^YFP/YFP [null] at E11.5 (delayed early MPC): this is deposited with accession number E-MTAB-449. We then examined 376 selected genes identified as differentially expressed between early pancreatic MPC and nascent acinar cells or between early pancreatic and delayed early MPCs by Taqman Low Density Arrays (TLDAs) with Real Time RT-PCR for each 1-day time point from E10.5 to E15. 5 in Ptf1a^YFP/+ [het] and for E10.5 and E11.5 in Ptf1aYFP/YFP [null] . Finally, 94 genes identified in the first phase of TLDAs (including 2 endogenous control, Gapdh and 18S) were analyzed in a second TLDA phase for each 1-day time point from E10.5 to -E18.5 in Ptf1a^YFP/+ [het] and for E11.5 in Ptf1aYFP/YFP [null] with biological replicates (n>=3) for each time point.

2014-11-15 | E-MTAB-2780 | biostudies-arrayexpress

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