Expression of SOX9 in testis differentiation

Stable Identifier
Reaction [uncertain]
Homo sapiens
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Subsequent to SRY expression in the gonadal ridge, the SOX9 gene is transcribed to yield mRNA and the mRNA is translated to yield SOX9 protein (Knower et al. 2011, Croft et al. 2018). SRY and NR5A1 (SF1) bound at the TES enhancer (Knower et al. 2011) and the eALDI enhancer (upstream of the TES enhancer, Croft et al. 2018) of the SOX9 gene initially activate transcription of SOX9 (Knower et al. 2011, Croft et al. 2018, and inferred from mouse homologs). Later, SOX9 and NR5A1 activate the TES enhancer, providing a mechanism for autoregulation (Knower et al. 2011). DMRT1, itself directly activated by SOX9, also directly activates SOX9 (inferred from mouse homologs). FGF9 acting through FGFR2 (inferred from mouse homologs) and Prostaglandin D2 (Malki et al. 2005), the product of PTGDS, activate SOX9 through less well characterized mechanisms.
Literature References
PubMed ID Title Journal Year
30552336 Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

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

Nat Commun 2018
15889150 Prostaglandin D2 induces nuclear import of the sex-determining factor SOX9 via its cAMP-PKA phosphorylation

Malki, S, Gasca, S, Poulat, F, Thevenet, L, Nef, S, Méjean, C, Notarnicola, C, Boizet-Bonhoure, B, Berta, P

EMBO J. 2005
21412441 Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations

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

PLoS ONE 2011
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