• PMID: 30026308
• Gene Name: SPATC1L
• Condition: Maintaining the stability of the sperm head-tail junction, Male infertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Maintaining the stability of the sperm head-tail junction, Male infertility

SPATC1L maintains the integrity of the sperm head-tail junction

Kim J, Kwon JT, Jeong J, Kim J, Hong SH, Kim J, Park ZY, Chung KH, Eddy EM, Cho C.

Spermatogenesis is a tightly regulated process involving germ cell-specific and germ cell-predominant genes. Here we investigate a novel germ cell-specific gene, Spatc1l (spermatogenesis and centriole associated 1 like). Expression analyses show that SPATC1L is expressed in mouse and human testes. We find that mouse SPATC1L localizes to the neck region in testicular sperm. Moreover, SPATC1L associates with the regulatory subunit of protein kinase A (PKA). Using CRISPR/Cas9-mediated genome engineering, we generate mice lacking SPATC1L. Disruption of Spatc1l in mice leads to male sterility owing to separation of sperm heads from tails. The lack of SPATC1L is associated with a reduction in PKA activity in testicular sperm, and we identify capping protein muscle Z-line beta as a candidate target of phosphorylation by PKA in testis. Taken together, our results implicate the SPATC1L-PKA complex in maintaining the stability of the sperm head-tail junction, thereby revealing a new molecular basis for sperm head-tail integrity. CI - © 2018 Gwangju Institute of Science and Technology. FAU - Kim, Jihye AU - Kim J AD - School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea. FAU - Kwon, Jun Tae AU - Kwon JT AD - School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea. FAU - Jeong, Juri AU - Jeong J AD - School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea. FAU - Kim, Jaehwan AU - Kim J AD - School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea. FAU - Hong, Seong Hyeon AU - Hong SH AD - School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea. FAU - Kim, Jinyoung AU - Kim J AD - School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea. FAU - Park, Zee Yong AU - Park ZY AD - School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea. FAU - Chung, Kyung Hwun AU - Chung KH AD - School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju, Korea. FAU - Eddy, Edward M AU - Eddy EM AD - Reproductive and Developmental Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC, USA.