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

GSE331301 Homo sapiens Genome binding/occupancy profiling by high throughput sequencing; Expression profiling by high throughput sequencing 4 samples Submitted 2026/06/05 Platform GPL24676
Summary
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.
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Direct links to NCBI, no account and no request form: the whole study as GSE331301_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 4 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1467653 and SRA study SRP701710. Searching any of these in the dataset finder brings you back here.

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