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PMID 28619825
Gene Name SPEF2
Condition Male cell differenciation, Male infertility
Association Assocaited
Sex Male
Infertility type Male infertility
Other associated phenotypes Male cell differenciation


SPEF2 functions in microtubule-mediated transport in elongating spermatids to ensure proper male germ cell differentiation

Lehti MS, Zhang FP, Kotaja N, Sironen A.

Sperm differentiation requires specific protein transport for correct sperm tail formation and head shaping. A transient microtubular structure, the manchette, appears around the differentiating spermatid head and serves as a platform for protein transport to the growing tail. Sperm flagellar 2 (SPEF2) is known to be essential for sperm tail development. In this study we investigated the function of SPEF2 during spermatogenesis using a male germ cell-specific Spef2 knockout mouse model. In addition to defects in sperm tail development, we observed a duplication of the basal body and failure in manchette migration resulting in an abnormal head shape. We identified cytoplasmic dynein 1 and GOLGA3 as novel interaction partners for SPEF2. SPEF2 and dynein 1 colocalize in the manchette and the inhibition of dynein 1 disrupts the localization of SPEF2 to the manchette. Furthermore, the transport of a known SPEF2-binding protein, IFT20, from the Golgi complex to the manchette was delayed in the absence of SPEF2. These data indicate a possible novel role of SPEF2 as a linker protein for dynein 1-mediated cargo transport along microtubules. CI - © 2017. Published by The Company of Biologists Ltd. FAU - Lehti, Mari S AU - Lehti MS AD - Natural Resources Institute Finland (Luke), Green Technology, FI-31600 Jokioinen, Finland. AD - Department of Physiology, Institute of Biomedicine, University of Turku, FI-20520 Turku, Finland. FAU - Zhang, Fu-Ping AU - Zhang FP AD - Department of Physiology, Institute of Biomedicine, University of Turku, FI-20520 Turku, Finland. AD - Turku Center for Disease Modeling, University of Turku, FI-20520 Turku, Finland. FAU - Kotaja, Noora AU - Kotaja N AD - Department of Physiology, Institute of Biomedicine, University of Turku, FI-20520 Turku, Finland.