About Enhancer
| Enhancer ID: | E_05375 |
| Species: | Mus musculus |
| Position : | chr11:111456657-111460228   |
| Year: | 2025 |
| Title: | Neanderthal-derived variants increase SOX9 enhancer activity in craniofacial progenitors that shape jaw development. |
| Genome Build: | mm39 |
| Enhancer Type: | Enhancer |
| Condition: | Normal |
| PMID: | 41208708 |
| Tissue: | developing craniofacial mesenchyme / jaw |
| Cell Source: | Human/Neanderthal EC1.45 sequences functionally tested in transgenic zebrafish |
| Cell Type: | cranial neural crest-derived mesenchymal progenitor |
| Experiment Type: | EC1.45 evolutionary enhancer-variant functional assay; orthologous canonical enhancer interval; dual reporter; lineage tracing; SOX9 phenocopy |
| High Throughput Method: | scRNA-seq |
| Low Throughput Method: | Tol2 dual enhancer-reporter; live/confocal imaging; lineage tracing; SOX9 overexpression; craniofacial morphometry |
About Target Gene
| Target gene : | Sox9 |
About TF
| TF name : | NA |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|
Enhancer Associated Network
Overlapping Enhancers (mm39)
2 found
| Enhancer ID | Position | Tissue | Cell | Disease |
|---|---|---|---|---|
| E_01179 | chr11:111456657-111460228 | developing mandible / craniofacial mesenchyme | cranial neural crest cell | isolated Pierre Robin sequence |
| E_05376 | chr11:111456657-111460228 | developing craniofacial mesenchyme / jaw | cranial neural crest-derived mesenchymal progenitor | NA |
Expression of Target Genes for the Enhancer