• PMID: 29690537
• Gene Name: Spag17
• Condition: Sperm motility, Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Sperm motility, Male infertility

SPAG17 Is Required for Male Germ Cell Differentiation and Fertility

Kazarian E, Son H, Sapao P, Li W, Zhang Z, Strauss JF, Teves ME.

Spag17 encodes a protein present in the axoneme central pair complex of motile cilia and flagella. A mutation in this gene has been reported to be associated with infertility caused by defects in sperm motility. Here, we report that Spag17 knockout mice are infertile because of a severe defect in spermatogenesis. The histological evaluation of testis sections from mutant mice revealed seminiferous tubules with spermatogenesis arrested at the spermatid stage and cell debris in the cauda epididymis. The few sperm collected from the cauda epididymis were immotile and displayed abnormal tail and head morphology. Immunofluorescence analysis of Spag17 knockout germ cells showed spermatids with abnormally long manchette structures and morphological defects in the head. Electron microscopy showed altered manchette microtubules, reduced chromatin condensation, irregular nuclear shape, and detached acrosomes. Additionally, the transport of proteins (Pcdp1 and IFT20) along the manchette microtubules was disrupted in the knockout elongating spermatids. Our results show for the first time that Spag17 is essential for normal manchette structure, protein transport, and formation of the sperm head and flagellum, in addition to its role in sperm motility. FAU - Kazarian, Elizabeth AU - Kazarian E AD - Department of Obstetrics and Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA. ekazarian@mymail.vcu.edu. FAU - Son, HyunYoung AU - Son H AD - Department of Obstetrics and Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA. sonh2@vcu.edu. FAU - Sapao, Paulene AU - Sapao P AD - Department of Obstetrics and Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA. sapaopa@mymail.vcu.edu. FAU - Li, Wei AU - Li W AD - Department of Obstetrics and Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA. wei.li@vcuhealth.org. FAU - Zhang, Zhibing AU - Zhang Z AD - Department of Obstetrics and Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA. gn6075@wayne.edu. AD - Department of Biochemistry & Molecular Biology, Virginia Commonwealth University, Richmond, VA 23298, USA. gn6075@wayne.edu. FAU - Strauss, Jerome F AU - Strauss JF AD - Department of Obstetrics and Gynecology, Virginia Commonwealth University, Richmond, VA 23298, USA. jerome.strauss@vcuhealth.org. AD - Department of Biochemistry & Molecular Biology, Virginia Commonwealth University, Richmond, VA 23298, USA. jerome.strauss@vcuhealth.org.