• PMID: 15700542
• Gene Name: GOPC
• Condition: Causes infertile round-headed spermatozoa, which have acrosome-less round heads and deformed tails
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Causes infertile round-headed spermatozoa, which have acrosome-less round heads and deformed tails

Failure to assemble the peri-nuclear structures in GOPC deficient spermatids as found in round-headed spermatozoa

Ito C, Suzuki-Toyota F, Maekawa M, Toyama Y, Yao R, Noda T, Toshimori K.

Deletion of the GOPC gene encoding mouse GOPC (Golgi-associated PDZ- and coiled-coil motif-containing protein) causes infertile round-headed spermatozoa, which have acrosome-less round heads and deformed tails (Yao et al, 2002). This study investigated how GOPC deficient spermatids fail to assemble the peri-nuclear structures in round-headed spermatozoa during spermiogenesis in GOPC knockout mouse testes. In step 1-8 spermatids, Golgi-derived proacrosomal vesicles that are transported to the perinuclear region formed acrosome-like vesicles of various sizes, called pseudoacrosomes. The marginal ring of the acroplaxome, which is generally formed between the descending edge of a developing acrosome and nuclear envelope in a wild spermatid, was poorly formed between the pseudoacrosome and nuclear envelope. In step 9-11 elongating spermatids, a majority of pseudoacrosomes were detached from the nucleus and disappeared from the perinuclear region by spermiation. Concomitantly, several failures occurred on the nucleus, manchette, postacrosomal sheath (perinuclear theca), and posterior ring. Ectoplasmic specializations were poorly formed, and did not always associate with developing spermatids. Consequently, spermatid nuclear elongation to form round-headed spermatozoa developed was impaired. In addition to these sequential failures, the posterior ring deficiency was attributed to the tail deformation destined to occur during epididymal maturation as reported in an accompanying paper (Suzuki-Toyota et al, 2004 in this issue), its eventual phenotype being reminiscent of the round-headed spermatozoa of human infertile globozoospermia. FAU - Ito, Chizuru AU - Ito C AD - Department of Anatomy and Developmental Biology, Graduate School of Medicine, Chiba University, Chiba, Japan. FAU - Suzuki-Toyota, Fumie AU - Suzuki-Toyota F FAU - Maekawa, Mamiko AU - Maekawa M FAU - Toyama, Yoshiro AU - Toyama Y FAU - Yao, Ryoji AU - Yao R FAU - Noda, Tetsuo AU - Noda T