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PMID 28630322
Gene Name TCTE1
Condition Axoneme function, sperm motility, and male fertility.
Association Assocaited
Sex Male
Infertility type Male infertility
Other associated phenotypes Axoneme function, sperm motility, and male fertility.


TCTE1 is a conserved component of the dynein regulatory complex and is required for motility and metabolism in mouse spermatozoa

Castaneda JM, Hua R, Miyata H, Oji A, Guo Y, Cheng Y, Zhou T, Guo X, Cui Y, Shen B, Wang Z, Hu Z, Zhou Z, Sha J, Prunskaite-Hyyrylainen R, Yu Z, Ramirez-Solis R, Ikawa M, Matzuk MM, Liu M.

Flagella and cilia are critical cellular organelles that provide a means for cells to sense and progress through their environment. The central component of flagella and cilia is the axoneme, which comprises the "9+2" microtubule arrangement, dynein arms, radial spokes, and the nexin-dynein regulatory complex (N-DRC). Failure to properly assemble components of the axoneme leads to defective flagella and in humans leads to a collection of diseases referred to as ciliopathies. Ciliopathies can manifest as severe syndromic diseases that affect lung and kidney function, central nervous system development, bone formation, visceral organ organization, and reproduction. T-Complex-Associated-Testis-Expressed 1 (TCTE1) is an evolutionarily conserved axonemal protein present from Chlamydomonas (DRC5) to mammals that localizes to the N-DRC. Here, we show that mouse TCTE1 is testis-enriched in its expression, with its mRNA appearing in early round spermatids and protein localized to the flagellum. TCTE1 is 498 aa in length with a leucine rich repeat domain at the C terminus and is present in eukaryotes containing a flagellum. Knockout of Tcte1 results in male sterility because Tcte1-null spermatozoa show aberrant motility. Although the axoneme is structurally normal in Tcte1 mutant spermatozoa, Tcte1-null sperm demonstrate a significant decrease of ATP, which is used by dynein motors to generate the bending force of the flagellum. These data provide a link to defining the molecular intricacies required for axoneme function, sperm motility, and male fertility. FAU - Castaneda, Julio M AU - Castaneda JM AD - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030. AD - Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 5650871, Japan. FAU - Hua, Rong AU - Hua R AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. AD - Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Miyata, Haruhiko AU - Miyata H AD - Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 5650871, Japan. FAU - Oji, Asami AU - Oji A AD - Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 5650871, Japan. AD - Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka 5650871, Japan. FAU - Guo, Yueshuai AU - Guo Y AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. AD - Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Cheng, Yiwei AU - Cheng Y AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. AD - Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Zhou, Tao AU - Zhou T AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. AD - Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Guo, Xuejiang AU - Guo X AUID- ORCID: 0000-0002-0475-5705 AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. AD - Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Cui, Yiqiang AU - Cui Y AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. AD - Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Shen, Bin AU - Shen B AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Wang, Zibin AU - Wang Z AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Hu, Zhibin AU - Hu Z AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. AD - Animal Core Facility of Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Zhou, Zuomin AU - Zhou Z AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. AD - Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Sha, Jiahao AU - Sha J AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China. AD - Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, People's Republic of China. FAU - Prunskaite-Hyyrylainen, Renata AU - Prunskaite-Hyyrylainen R AD - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030. AD - Center for Reproductive Medicine, Baylor College of Medicine, Houston, TX 77030. AD - Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu FI-90014, Finland. FAU - Yu, Zhifeng AU - Yu Z AD - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030. AD - Center for Drug Discovery, Baylor College of Medicine, Houston, TX 77030. FAU - Ramirez-Solis, Ramiro AU - Ramirez-Solis R AD - Wellcome Trust Sanger Institute, Hinxton CB10 1SA, United Kingdom. FAU - Ikawa, Masahito AU - Ikawa M AD - Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 5650871, Japan; mingxi.liu@njmu.edu.cn ikawa@biken.osaka-u.ac.jp mmatzuk@bcm.edu. AD - Graduate School of Pharmaceutical Sciences, Osaka University, Suita, Osaka 5650871, Japan. AD - The Institute of Medical Science, The University of Tokyo, Minato-ku, Tokyo 1088639, Japan. FAU - Matzuk, Martin M AU - Matzuk MM AD - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030; mingxi.liu@njmu.edu.cn ikawa@biken.osaka-u.ac.jp mmatzuk@bcm.edu. AD - Center for Reproductive Medicine, Baylor College of Medicine, Houston, TX 77030. AD - Center for Drug Discovery, Baylor College of Medicine, Houston, TX 77030. AD - Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030. AD - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030. AD - Department of Pharmacology, Baylor College of Medicine, Houston, TX 77030.