Novel genes required for gonadal development

Novel genes required for gonadal development is a Research Project for the Sex Development Research Group, under the Centre for Endocrinology and Metabolism.

Project Leader



Our aim is to identify the underlying molecular and cellular events that cause human disorders of sexual development. Identify novel genes involved in gonad development. We have identified several mutant strains affecting testis development which are currently under investigation.


Our aim is to identify novel genes that underlie human disorders of sexual development.


  • Identified novel genes involved in human disorders of sexual development

Selected publications

  • Bernard P, Ryan J, Sim H, Czech DP, Sinclair AH, Koopman P, Harley VR (2012) Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer. Endocrinology 153(2): 901-12.

  • Ryan J, Ludbrook L, Wilhelm D, Sinclair A, Koopman P, Bernard P, Harley VR (2011) Analysis of gene function in cultured embryonic mouse gonads using nucleofection. Sexual Development 5: 7-15.

  • Ludbrook L, Bernard P, Bagheri-Fam S, Sekido R, Wilhelm D, Lovell-Badge R, Harley VR. Excess DAX1 leads to XY ovotesticular DSD in mice by inhibiting Sf1 activation of the testis enhancer of SOX9. Endocrinology, 2012 153: 1948-1958; doi 10.1210/en2011 -1428.

  • Bagheri-Fam S, Sim H, Bernard P, Jayakody I, Taketo MM, Scherer G, Harley VR (2008) Loss of Fgfr2 leads to XY gonadal sex reversal. Developmental Biology 314, 71-83.