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Characterisation of novel gonadal targets of Sox9

Description 
For the majority of DSD cases the underlying genetic aetiology is unknown. In males Sox9 is a critical ‘hub’ gene involved in sexual development. We hypothesise that Sox9’s downstream targets are also essential for gonadal development and mutated in DSD patients. By extensive data mining of gonadal microarrays, RNAseq, and SOX9 ChIPseq we have identified genes directly regulated by SOX9. These candidate genes are up regulated in XY mouse testis compared to XX ovaries during development and down regulated in sex reversed XY ovaries ablated for Sox9. We performed detailed expression profiling in XX and XY embryonic gonad of wild type mice during the critical sex determination period E11.5-E13.5, postnatally and at adult stages. We also performed SOX9 ChIPseq on gonads and promoter/enhancer analyses and screen DSD patients towards validation. Candidate target genes will be validated in cell culture and ex-vivo gonadal culture. 1. Rahmoun M, Lavery R, Laurent-Chabalier S, Bellora N, Philip G, Rossitto M, Symon A, Pailhoux E, Cammas F, Chung J, Murphy M, Bardwell V, Zarkower D, Boizet-Bonhoure B, Clair P, Harley V, Poulat F (2017). In mammalian foetal testes, SOX9 regulates transcription and splicing of its target genes by binding to genomic regions with conserved signatures. Nucleic Acids Research, 45(12):7191-7211
Essential criteria: 
Minimum entry requirements can be found here: https://www.monash.edu/admissions/entry-requirements/minimum
Keywords 
sex determination, Sox9, disorders of sex determination, molecular genetics, sex differences
School 
School of Clinical Sciences at Monash Health / Hudson Institute of Medical Research » Molecular and Translational Sciences
Available options 
PhD/Doctorate
Masters by research
Honours
Time commitment 
Full-time
Top-up scholarship funding available 
No
Physical location 
Monash Health Translation Precinct (Monash Medical Centre)

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