SOX30 is critical for male fertility in mice — ASN Events
  1. Schedule
  2. Session 17: Stem Cells & Development in Disease
  3. SOX30 is critical for male fertility in mice

SOX30 is critical for male fertility in mice (#55)

Josephine Bowles 1 2 , Chun-Wei A Feng 1 2 , Cassy Spiller 3 , Moira K O'Bryan 4 , Peter Koopman 1
  1. Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia
  2. School of Biomedical Sciences, University of Queensland, Brisbane, QLD, Australia
  3. School of Biomedical Sciences, The University of Queensland, Brisbane, QLD, Australia
  4. Department of Anatomy and Developmental Biology and Development and Stem Cell Program, Monash University, Melbourne, VIC, Australia

Sox30 is expressed in a highly specific manner, being detectable in germ cells of both sexes just after expression of Stra8, the pre-meiotic gatekeeper gene. Sox30-null mice are healthy and females are fertile, but males are sterile. In null males meiosis is normal but germ cell development arrests during the post-meiotic round spermatid period and is characterized by aberrant acrosome development, the presence of multinucleated germ cells and an absence of mature sperm in the epididymis. Thus, Sox30 represents a rare example of a gene for which loss of function results in global arrest of spermatogenesis. Our results suggest that SOX30 mutations may underlie some instances of unexplained non-obstructive azoospermia in humans.