Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Distal Enhancer-Insulator Module of GDF6 is Essential for Cochlear Formation

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

ORGANISM(S): Homo sapiens

PROVIDER: GSE329999 | GEO | 2026/06/05

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
		Other

Items per page:

1 - 1 of 1

Similar Datasets

Distal Enhancer-Insulator Module of GDF6 is Essential for Cochlear Formation [ATAC-seq]

Project description:Inner-ear malformations cause congenital hearing loss, and several genes are known to guide inner-ear development. However, the contribution of noncoding regulatory elements remains largely unclear. This study investigates the function of distal enhancer elements in the transcriptional regulation of GDF6, a gene crucial for cochlear development. Using mouse models with targeted deletions, human iPSC-derived ear organoids (IEO), and CRISPR interference (CRISPRi) techniques, we identified a downstream regulatory interval harboring a developmental enhancer required to maintain GDF6 expression during otic epithelial maturation, vital for cochlear morphogenesis. Deletion of this regulatory region or targeting of CRISPRi-based repressors to these regions resulted in decreased GDF6 expression, failure of otic-epithelium development, and prevention of hair cell-like differentiation, reflecting cochlear aplasia observed in patients with corresponding genomic deletions. These findings highlight the essential role of long-range regulatory elements in auditory development and illustrate how their disruption contributes to human deafness.

2026-06-05 | GSE329998 | GEO

Distal Enhancer-Insulator Module of GDF6 is Essential for Cochlear Formation [ChIP-Seq]

2026-06-05 | GSE328473 | GEO

Distal Enhancer-Insulator Module of GDF6 is Essential for Cochlear Formation [single-cell multiome]

Project description:Mutations in approximately 30 genes have been linked to cochlear malformations, but the contribution of noncoding regulatory elements remains largely unclear. This study investigates the function of distal enhancer elements in the transcriptional regulation of GDF6, a gene implicated in cochlear development. Using mouse models with targeted deletions, human inner ear organoids, and CRISPR interference (CRISPRi), we identified a downstream regulatory interval harboring a developmental enhancer required to maintain GDF6 expression during otic epithelial maturation and cochlear morphogenesis. To characterize cellular composition and chromatin accessibility changes in patient (166-101) versus control (CA-26) iPSC-derived otic progenitor cells, we performed joint single-nucleus RNA-seq and ATAC-seq (10X Genomics Multiome) on CD271+ enriched populations.

2026-06-05 | GSE331301 | GEO

p63+/Krt5+ Distal Airway Stem Cells are Essential for Lung Regeneration

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2014-11-20 | E-GEOD-60849 | biostudies-arrayexpress

LRP8-Reelin-regulated Neuronal (LRN) Enhancer signature underlying learning and memory formation

Project description:This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

2015-04-29 | E-GEOD-66710 | biostudies-arrayexpress

p63+/Krt5+ Distal Airway Stem Cells are Essential for Lung Regeneration