This work was supported by the National Health and Medical Research Council of Australia (NHMRC) (APP1107643); The Cancer Council Queensland (1107631) (M.Fran.); the Australian Research Council Discovery Project (DP140100485) and a Career Development Fellowship (APP1111169) (M.Fran.); the Ludwig Institute for Cancer Research (M.Frit., A.N., I.R., S...
Understanding male fertility requires an in-depth characterisation of spermatogenesis, the developmental process by which male gametes are generated. Spermatogenesis occurs continuously throughout a male's reproductive window and involves a complex sequence of developmental steps, both of which make this process difficult to decipher at the molecul...
Following the largest Ebola virus disease outbreak from 2013 to 2016, viral RNA has been detected in survivors from semen and breast milk long after disease recovery. However, as there have been few cases of sexual transmission, it is unclear whether every RNA positive fluid sample contains infectious virus. Virus isolation, typically using cell cu...
Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation causing parental origin-specific mono-allelic gene expression. ZFP57 is critical for maintenance of this epigenetic memory during post-fertilisation reprogramming, yet incomplete penetrance of ZFP57 mutations in human and mouse suggests additional effectors. W...
Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation causing parental origin-specific mono-allelic gene expression. ZFP57 is critical for maintenance of this epigenetic memory during post-fertilisation reprogramming, yet incomplete penetrance of ZFP57 mutations in human and mouse suggests additional effectors. W...
The whipworm Trichuris trichiura is a soil-transmitted helminth that dwells in the epithelium of the caecum and proximal colon of their hosts causing the human disease, trichuriasis. Trichuriasis is characterized by colitis attributed to the inflammatory response elicited by the parasite while tunnelling through intestinal epithelial cells (IECs). ...
Mutations in the ATM tumor suppressor confer hypersensitivity to DNA-damaging agents. To explore genetic resistance mechanisms, we performed genome-wide CRISPR-Cas9 screens in cells treated with the DNA topoisomerase poison topotecan. Thus, we here establish that inactivating terminal components of the non-homologous end-joining (NHEJ) machinery or...
Mitochondrial NADP+-dependent isocitrate dehydrogenase 2 (IDH2) is a major NADPH-producing enzyme which is essential for maintaining the mitochondrial redox balance in cells. We sought to determine whether IDH2 deficiency induces mitochondrial dysfunction and modulates auditory function, and investigated the protective potential of an antioxidant a...
