Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

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

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

PROVIDER: PRJNA761667 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR15809400.fastq.gz	Fastqsanger.gz
	SRR15809401.fastq.gz	Fastqsanger.gz
	SRR15809402.fastq.gz	Fastqsanger.gz
	SRR15809391.fastq.gz	Fastqsanger.gz
	SRR15809392.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 12

Similar Datasets

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

| PRJNA761668 | 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

| PRJNA761660 | ENA

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

Project description: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.

2022-06-30 | GSE183673 | GEO

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

A conserved notochord enhancer controls pancreas development in vertebrates

Project description:A conserved notochord enhancer controls pancreas development in vertebrates

| PRJEB36984 | ENA

Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

Project description:Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism

| PRJNA794841 | ENA

Primate-specific ZNF808 is essential for pancreatic development in humans [RNA-seq]

Project description:Functional investigation of the role primate-specific gene ZNF808 over pancreas differentiation. Loss of function of ZNF808 is a cause of pancreatic agenesis, which is a failure of pancreas development.

2023-09-04 | GSE205163 | GEO

Primate-specific ZNF808 is essential for pancreatic development in humans [ChIP-seq]

2023-09-04 | GSE205152 | GEO