• PMID: 29728588
• Gene Name: IP6K1
• Condition: Male germ cell development
• Association: Associated
• Sex: Male
• Infertility type: Male infertility

Multiple aspects of male germ cell development and interactions with Sertoli cells require inositol hexakisphosphate kinase-1

Fu C, Rojas T, Chin AC, Cheng W, Bernstein IA, Albacarys LK, Wright WW, Snyder SH.

Inositol hexakisphosphate kinase-1 (IP6K1) is required for male fertility, but the underlying mechanisms have been elusive. Here, we report that IP6K1 is required for multiple aspects of male germ cell development. This development requires selective interactions between germ cells and Sertoli cells, namely apical ectoplasmic specialization. Spermiation (sperm release) requires tubulobulbar complexes. We found that the apical ectoplasmic specialization and tubulobulbar complexes were poorly formed or disrupted in IP6K1 KOs. Deletion of IP6K1 elicited several aberrations, including: 1, sloughing off of round germ cells; 2, disorientation and malformation of elongating/elongated spermatids; 3, degeneration of acrosomes; 4, defects in germ-Sertoli cell interactions and 5, failure of spermiation. Eventually the sperm cells were not released but phagocytosed by Sertoli cells leading to an absence of sperm in the epididymis. FAU - Fu, Chenglai AU - Fu C AUID- ORCID: 0000-0003-4300-9948 AD - Department of Physiology and Pathophysiology, Tianjin Medical University, Tianjin, 300070, China. cfu9@jhmi.edu. AD - The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. cfu9@jhmi.edu. FAU - Rojas, Tomas AU - Rojas T AD - The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. FAU - Chin, Alfred C AU - Chin AC AD - The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. FAU - Cheng, Weiwei AU - Cheng W AD - Division of Neuropathology, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. FAU - Bernstein, Isaac A AU - Bernstein IA AD - The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. FAU - Albacarys, Lauren K AU - Albacarys LK AD - The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. FAU - Wright, William W AU - Wright WW AD - Department of Biochemistry and Molecular Biology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, 21205, USA.