Investigators: A/Prof Moira O’Bryan (1), Dr Liza O’Donnell (2,3), Prof Robert McLachlan (3,4), Dr Duangporn Jamsai (1), Prof Andrew Sinclair (5); Dr Alicia Oshlack (5)
1 Dept. Anatomy and Developmental Biology, Monash University; 2 Monash Institute of Medical Research; 3 Hudson Institute of Medical Research, Clayton; 4 Monash IVF, Clayton; 5 The Murdoch Childrens Research Institute
Infertility affects 1 in 20 Australian men and leads to approximately half of all ART treatments. Male infertility is often due to the failure to produce adequate numbers of motile sperm capable of fertilisation. Genetic factors are suspected to be causal in many cases. Understanding such genetic factors may result in new diagnostic tests and ultimately specific treatments. Such research may also address uncertainties around the possible transmission of infertility to ART conceived offspring. Based on our extensive mouse gene discovery program, we have identified many genes with essential roles in male mouse fertility. As an extension of this work, and using a bioinformatics approach, we are systematically screening human male samples for mutations likely to cause infertility. Recent findings include an evolutionarily conserved association between Sertoli cell only syndrome in mice and humans, and mutations in the ETV5 gene.
Reference: O’Bryan MK, Grealy A, Stahl PJ, Schlegel PN, McLachlan RI, Jamsai D. Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome. Fertil Steril. 2012 Oct;98(4):827-35 e1-3.