About Enhancer

Enhancer ID: E_02_0282
Species: mouse
Position : chr11:112217210-112217767
Biosample name:
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: --
Pubmed ID:  29903884
Enhancer experiment: DNaseI-seq,ChIP-seq
Enhancer experiment description: In vivo high-throughput chromatin accessibility techniques, transgenic assays, and genome editing revealed several novel gonadal regulatory elements in the 2 Mb gene desert upstream of Sox9.Although others are redundant, Enh13, a 557 bp element located 565 kb 5, is essential to initiate mouse testis development.

About Target gene

Target gene : Sox9(CMD1,CMPD1,SRA1,SRXX2,SRXY10),Sox9(CMD1,CMPD1,SRA1,SRXX2,SRXY10),Sox9(CMD1,CMPD1,SRA1,SRXX2,SRXY10),Sox9(CMD1,CMPD1,SRA1,SRXX2,SRXY10)
Strong evidence: CRISPR/Cas9
Less strong evidence: ChIP-seq,RT-PCR
Target gene experiment description: There was a 30 to 50% decrease in Sox9 mRNA levels in E11.5 XX Enh13-/- gonads compared to the wild type, as reflected by reduced immunofluorescence for SOX9 protein (fig. S11). These data indicate that Enh13 also plays a role in the very early expression of Sox9 in the XX gonad.;There was a 30 to 50% decrease in Sox9 mRNA levels in E11.5 XX Enh13-/- gonads compared to the wild type, as reflected by reduced immunofluorescence for SOX9 protein (fig. S11). These data indicate that Enh13 also plays a role in the very early expression of Sox9 in the XX gonad.;There was a 30 to 50% decrease in Sox9 mRNA levels in E11.5 XX Enh13-/- gonads compared to the wild type, as reflected by reduced immunofluorescence for SOX9 protein (fig. S11). These data indicate that Enh13 also plays a role in the very early expression of Sox9 in the XX gonad.;There was a 30 to 50% decrease in Sox9 mRNA levels in E11.5 XX Enh13-/- gonads compared to the wild type, as reflected by reduced immunofluorescence for SOX9 protein (fig. S11). These data indicate that Enh13 also plays a role in the very early expression of Sox9 in the XX gonad.

About TF

TF name : Sry(Tdf,Tdy)Sry(Tdf,Tdy)Sry(Tdf,Tdy)Sry(Tdf,Tdy)
TF experiment: ChIP-qPCR
TF experiment description: We performed ChIP-qPCR on E11.5 gonads dissected from Sry-Myc transgenic embryos by using a specific antibody against the MYC tag.SRY-MYCpositive gonads had an 11-fold enrichment versus SRY-MYCnegative gonads with primers spanning the SOX9 consensus site and a sixfold enrichment with primers spanning the SRY site, whereas primers against the strongest SRY binding site in TESCO showed fivefold enrichment.This reveals the strong binding of SRY to Enh13 at E11.5, with a preference for the SOX9 consensus site, possibly due to the adjacent SF1 binding site.;We performed ChIP-qPCR on E11.5 gonads dissected from Sry-Myc transgenic embryos by using a specific antibody against the MYC tag.SRY-MYCpositive gonads had an 11-fold enrichment versus SRY-MYCnegative gonads with primers spanning the SOX9 consensus site and a sixfold enrichment with primers spanning the SRY site, whereas primers against the strongest SRY binding site in TESCO showed fivefold enrichment.This reveals the strong binding of SRY to Enh13 at E11.5, with a preference for the SOX9 consensus site, possibly due to the adjacent SF1 binding site.;We performed ChIP-qPCR on E11.5 gonads dissected from Sry-Myc transgenic embryos by using a specific antibody against the MYC tag.SRY-MYCpositive gonads had an 11-fold enrichment versus SRY-MYCnegative gonads with primers spanning the SOX9 consensus site and a sixfold enrichment with primers spanning the SRY site, whereas primers against the strongest SRY binding site in TESCO showed fivefold enrichment.This reveals the strong binding of SRY to Enh13 at E11.5, with a preference for the SOX9 consensus site, possibly due to the adjacent SF1 binding site.;We performed ChIP-qPCR on E11.5 gonads dissected from Sry-Myc transgenic embryos by using a specific antibody against the MYC tag.SRY-MYCpositive gonads had an 11-fold enrichment versus SRY-MYCnegative gonads with primers spanning the SOX9 consensus site and a sixfold enrichment with primers spanning the SRY site, whereas primers against the strongest SRY binding site in TESCO showed fivefold enrichment.This reveals the strong binding of SRY to Enh13 at E11.5, with a preference for the SOX9 consensus site, possibly due to the adjacent SF1 binding site.

About Function

Enhancer function : Enh13 is conserved and embedded within a 32.5-kilobase region whose deletion in humans is associated with XY sex reversal, suggesting that it is also critical in humans.
Enhancer function experiment: CRISPR/Cas9,RT-qPCR
Enhancer function
experiment description:
This again supports the conclusion that Enh13 plays a more substantial role than TES during early gonadal development.

About SNP

SNP ID: --

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs