Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations

@inproceedings{Knower2011FailureOS,
  title={Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations},
  author={Kevin C. Knower and Sabine Kelly and Louisa M. Ludbrook and Stefan Bagheri-Fam and Helena Sim and Pascal Bernard and Ryohei Sekido and Robin Lovell-Badge and Vincent R Harley},
  booktitle={PloS one},
  year={2011}
}
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… CONTINUE READING
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