About Enhancer
| Enhancer ID: | E_02_0879 |
| Species: | human |
| Position : | chr17:69487560-69491400   |
| Biosample name: | |
| Experiment class : | Low throughput |
| Enhancer type: | Enhancer |
| Disease: | Disorders of sexual development |
| Pubmed ID: | 25604083 |
| Enhancer experiment: | Luciferase Reporter Assay,Transgenic mice |
| Enhancer experiment description: | Finally, we performed transfections of reporter gene constructs under control of the minimal Sox9 promoter and additional XYSR fragments into various cell lines.For this, the 32.5 kb region was subdivided into 17 overlapping fragments,F1 to F17 (?gure 3). Whereas none of the conserved elements CNE17 showed Sertoli cell-speci?c activity (not shown),of all 24 constructs tested, F8 showed the highest luciferase activities in both Sertoli-like cell lines (see online supplementary ?gure S5A, B).In contrast, the same fragment had little in?uence on luciferase activity in both HEK293 and neuro-2a control cell lines (see online supplementary ?gure S5C, D). Even though F7 and F9 overlap with F8 (?gure 3 and online supplementary ?gure S6), their luciferase activities are weak in TM-4 and unremarkable in NT2/D1. Thus F8 appeared to be the best candidate for a testis-speci?c enhancer of the SOX9 gene. |
About Target gene
| Target gene : | SOX9(CMD1,CMPD1,SRA1,SRXX2,SRXY10) |
| Strong evidence: | -- |
| Less strong evidence: | Luciferase Reporter Assay,Transgenic mice |
| Target gene experiment description: | Finally, we performed transfections of reporter gene constructs under control of the minimal Sox9 promoter and additional XYSR fragments into various cell lines.For this, the 32.5 kb region was subdivided into 17 overlapping fragments,F1 to F17 (?gure 3). Whereas none of the conserved elements CNE17 showed Sertoli cell-speci?c activity (not shown),of all 24 constructs tested, F8 showed the highest luciferase activities in both Sertoli-like cell lines (see online supplementary ?gure S5A, B).In contrast, the same fragment had little in?uence on luciferase activity in both HEK293 and neuro-2a control cell lines (see online supplementary ?gure S5C, D). Even though F7 and F9 overlap with F8 (?gure 3 and online supplementary ?gure S6), their luciferase activities are weak in TM-4 and unremarkable in NT2/D1. Thus F8 appeared to be the best candidate for a testis-speci?c enhancer of the SOX9 gene. |
About TF
| TF name : | SF1(BBP,D11S636,MBBP,ZCCHC25,ZFM1,ZNF162)WT1(AWT1,GUD,NPHS4,WAGR,WIT-2,WT33) |
| TF experiment: | Luciferase Reporter Assay |
| TF experiment description: | Such an enhancer should be under control of SRY, but could possibly also be in?uenced in its activity by other transcription factors present in the early gonad and essential for gonadal differentiation, including SF1 (also known as NR5A1), WT1, and GATA4. To test this assumption, a luciferase reporter containing F8 in front of the ?-globin TATA box was co-transfected in neuro-2a cells with expression plasmids for these factors. Of all factors tested, only SRY elicited a substantial 10-fold increase in luciferase activity. WT1 stimulated reporter activity two fold, whereas SF1 and GATA4 were completely ineffective (?gure 4A). |
About Function
| Enhancer function : | -- |
| Enhancer function experiment: | -- |
| Enhancer function experiment description: |
-- |
About SNP
| SNP ID: | -- |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| SF1 | AndrogenReceptor | netpath | 167 |
| WT1 | BMP signaling in Drosophila ( BMP signaling in Drosophila ) | inoh | 7 |
| WT1 | BMP signaling in Drosophila (dorsal midline) ( BMP signaling in Drosophila ) | inoh | 7 |
| WT1 | BMP signaling in Drosophila (dorsolateral) ( BMP signaling in Drosophila ) | inoh | 7 |
| WT1 | BMP signaling pathway ( TGF-beta_BMP Diagram(MolecularVariation) ) | inoh | 34 |
| WT1 | p73 transcription factor network | pid | 80 |
| WT1 | Regulation of Telomerase | pid | 70 |
| WT1 | TGF-beta_super_family_signaling_pathway(canonical) ( TGF-beta_BMP Diagram(MolecularVariation) ) | inoh | 51 |
Enhancer associated network
The number on yellow line represents the distance between enhancer and
target gene