The ATR-X syndrome, an X-linked recessive developmental disorder affecting males, belongs to a growing list of disorders of sex development (DSD) which affect 1% of all newborns. Clinical features include mental retardation, alpha-thalassemia and skeletal and genital abnormalities. The focus of our work is to investigate the role of ATRX in gonadal development in a knockout mouse model. 1. Bagheri-Fam S, Argentaro A, Svingen T, Combes A, Sinclair A, Koopman P, Harley VR (2011) Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome. Human Molecular Genetics 20:2213-2224.
Sex determination, ATRX syndrome, human genetics, disorders of sex development
School of Clinical Sciences at Monash Health / Hudson Institute of Medical Research » Molecular and Translational Sciences
Masters by research
Top-up scholarship funding available
Monash Health Translation Precinct (Monash Medical Centre)