SRY and NR5A1 (SF1) bind SOX9 gene

Stable Identifier
R-HSA-9690414
Type
Reaction [binding]
Species
Homo sapiens
Compartment
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SRY and NR5A1 (SF1) bind several sites in the TES enhancer upstream of the SOX9 coding region (Knower et al. 2011) and the eALDI enhancer upstream of TES (Croft et al. 2018, and inferred from mouse homologs). SRY weakly enhances SOX9 expression only when NR5A1 is also bound to the TES enhancer (inferred from mouse homologs). SRY bound to eALDI more strongly activates SOX9 (Croft et al. 2018).

Literature References
PubMed ID Title Journal Year
21412441 Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations

Knower, KC, Kelly, S, Ludbrook, LM, Bagheri-Fam, S, Sim, H, Bernard, P, Sekido, R, Lovell-Badge, R, Harley, VR

PLoS ONE 2011
30552336 Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Croft, B, Ohnesorg, T, Hewitt, J, Bowles, J, Quinn, A, Tan, J, Corbin, V, Pelosi, E, van den Bergen, J, Sreenivasan, R, Knarston, I, Robevska, G, Vu, DC, Hutson, J, Harley, V, Ayers, K, Koopman, P, Sinclair, A

Nat Commun 2018
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