Germ cell arrest associated with a SETX mutation in ataxia oculomotor apraxia type 2
SR Catford, MK OBryan, R McLachlan, MB Delatycki, L Rombauts
REPRODUCTIVE BIOMEDICINE ONLINE | ELSEVIER SCI LTD | Published : 2019
Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar atrophy, peripheral neuropathy and oculomotor apraxia. It is caused by mutations in the SETX gene that encodes senataxin, a ubiquitously expressed protein that mediates processes, including transcription, transcription termination, DNA repair, RNA processing, DNA-RNA hybrid (R-loop) elimination and telomere stability. In mice, senataxin is essential for male germ cell development and fertility through its role in meiotic recombination and sex chromosome inactivation. AOA2 is associated with hypogonadism in women, but there are no reports of hypogonadism or inferti..View full abstract
Awarded by National Health and Medical Research fellowships
Dr Anthony Kelman from the Department of Anatomical Pathology, Monash Health. The study was funded in part by National Health and Medical Research fellowships to RIM and MKO (APP1022327 and APP1058356) and project funding from the Monash IVF Research Foundation. SRC was supported by an Australian Government Research Training Program Scholarship.