• PMID: 23864717
• Gene Name: SMAP2
• Condition: Acrosome formation in spermiogenesis
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Acrosome formation in spermiogenesis

The Arf GAP SMAP2 is necessary for organized vesicle budding from the trans-Golgi network and subsequent acrosome formation in spermiogenesis

Funaki T, Kon S, Tanabe K, Natsume W, Sato S, Shimizu T, Yoshida N, Wong WF, Ogura A, Ogawa T, Inoue K, Ogonuki N, Miki H, Mochida K, Endoh K, Yomogida K, Fukumoto M, Horai R, Iwakura Y, Ito C, Toshimori K, Watanabe T, Satake M.

The trans-Golgi network (TGN) functions as a hub organelle in the exocytosis of clathrin-coated membrane vesicles, and SMAP2 is an Arf GTPase-activating protein that binds to both clathrin and the clathrin assembly protein (CALM). In the present study, SMAP2 is detected on the TGN in the pachytene spermatocyte to the round spermatid stages of spermatogenesis. Gene targeting reveals that SMAP2-deficient male mice are healthy and survive to adulthood but are infertile and exhibit globozoospermia. In SMAP2-deficient spermatids, the diameter of proacrosomal vesicles budding from TGN increases, TGN structures are distorted, acrosome formation is severely impaired, and reorganization of the nucleus does not proceed properly. CALM functions to regulate vesicle sizes, and this study shows that CALM is not recruited to the TGN in the absence of SMAP2. Furthermore, syntaxin2, a component of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) complex, is not properly concentrated at the site of acrosome formation. Thus this study reveals a link between SMAP2 and CALM/syntaxin2 in clathrin-coated vesicle formation from the TGN and subsequent acrosome formation. SMAP2-deficient mice provide a model for globozoospermia in humans. FAU - Funaki, Tomo AU - Funaki T AD - Department of Molecular Immunology, Department of Pathology, Institute of Development, Aging and Cancer, Tohoku University, Sendai 980-8575, Japan. FAU - Kon, Shunsuke AU - Kon S FAU - Tanabe, Kenji AU - Tanabe K FAU - Natsume, Waka AU - Natsume W FAU - Sato, Sayaka AU - Sato S FAU - Shimizu, Tadafumi AU - Shimizu T FAU - Yoshida, Naomi AU - Yoshida N FAU - Wong, Won Fen AU - Wong WF FAU - Ogura, Atsuo AU - Ogura A FAU - Ogawa, Takehiko AU - Ogawa T FAU - Inoue, Kimiko AU - Inoue K FAU - Ogonuki, Narumi AU - Ogonuki N FAU - Miki, Hiromi AU - Miki H FAU - Mochida, Keiji AU - Mochida K FAU - Endoh, Keisuke AU - Endoh K FAU - Yomogida, Kentarou AU - Yomogida K FAU - Fukumoto, Manabu AU - Fukumoto M FAU - Horai, Reiko AU - Horai R FAU - Iwakura, Yoichiro AU - Iwakura Y FAU - Ito, Chizuru AU - Ito C FAU - Toshimori, Kiyotaka AU - Toshimori K FAU - Watanabe, Toshio AU - Watanabe T