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- W2000225518 endingPage "e17751" @default.
- W2000225518 startingPage "e17751" @default.
- W2000225518 abstract "Background In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. In mice, Sox9 regulation is under the transcriptional control of SRY, SF1 and SOX9 via a conserved testis-specific enhancer of Sox9 (TES). Regulation of SOX9 in human sex determination is however poorly understood. Methodology/Principal Findings We show that a human embryonal carcinoma cell line (NT2/D1) can model events in presumptive Sertoli cells that initiate human sex determination. SRY associates with transcriptionally active chromatin in NT2/D1 cells and over-expression increases endogenous SOX9 expression. SRY and SF1 co-operate to activate the human SOX9 homologous TES (hTES), a process dependent on phosphorylated SF1. SOX9 also activates hTES, augmented by SF1, suggesting a mechanism for maintenance of SOX9 expression by auto-regulation. Analysis of mutant SRY, SF1 and SOX9 proteins encoded by thirteen separate 46,XY DSD gonadal dysgenesis individuals reveals a reduced ability to activate hTES. Conclusions/Significance We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription." @default.
- W2000225518 created "2016-06-24" @default.
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- W2000225518 date "2011-03-11" @default.
- W2000225518 modified "2023-10-16" @default.
- W2000225518 title "Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations" @default.
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- W2000225518 doi "https://doi.org/10.1371/journal.pone.0017751" @default.
- W2000225518 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3055899" @default.
- W2000225518 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21412441" @default.
- W2000225518 hasPublicationYear "2011" @default.
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