New point mutation in Golga3 causes multiple defects in spermatogenesis.

ABSTRACT: Mice with repro27 exhibit fully penetrant male-specific infertility associated with a nonsense mutation in the golgin subfamily A member 3 gene (Golga3). GOLGA3 is a Golgi complex-associated protein implicated in protein trafficking, apoptosis, positioning of the Golgi and spermatogenesis. In repro27 mutant mice, a point mutation in exon 18 of the Golga3 gene that inserts a pre-mature termination codon leads to an absence of GOLGA3 protein expression. GOLGA3 protein was undetectable in the brain, heart and liver in both mutant and control mice. Although spermatogenesis in Golga3(repro27) mutant mice appears to initiate normally, development is disrupted in late meiosis during the first wave of spermatogenesis, leading to significant germ cell loss between 15 and 18 days post-partum (dpp).

SUBMITTER: Bentson LF 

PROVIDER: S-EPMC4134951 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature