• PMID: 26987518
• Gene Name: Defb41
• Condition: Sperm maturation, male fertility
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Sperm maturation, male fertility

Targeted inactivation of the mouse epididymal beta-defensin 41 alters sperm flagellar beat pattern and zona pellucida binding

Björkgren I, Alvarez L, Blank N, Balbach M, Turunen H, Laajala TD, Toivanen J, Krutskikh A, Wahlberg N, Huhtaniemi I, Poutanen M, Wachten D, Sipilä P.

During epididymal maturation, sperm acquire the ability to swim progressively by interacting with proteins secreted by the epididymal epithelium. Beta-defensin proteins, expressed in the epididymis, continue to regulate sperm motility during capacitation and hyperactivation in the female reproductive tract. We characterized the mouse beta-defensin 41 (DEFB41), by generating a mouse model with iCre recombinase inserted into the first exon of the gene. The homozygous Defb41(iCre/iCre) knock-in mice lacked Defb41 expression and displayed iCre recombinase activity in the principal cells of the proximal epididymis. Heterozygous Defb41(iCre/+) mice can be used to generate epididymis specific conditional knock-out mouse models. Homozygous Defb41(iCre/iCre) sperm displayed a defect in sperm motility with the flagella primarily bending in the pro-hook conformation while capacitated wild-type sperm more often displayed the anti-hook conformation. This led to a reduced straight line motility of Defb41(iCre/iCre) sperm and weaker binding to the oocyte. Thus, DEFB41 is required for proper sperm maturation. CI - Copyright © 2016 Elsevier Ireland Ltd. All rights reserved. FAU - Björkgren, Ida AU - Björkgren I AD - Department of Physiology and Turku Center for Disease Modeling, Institute of Biomedicine, University of Turku, Turku, Finland; Turku Doctoral Programme of Biomedical Sciences, Turku, Finland. FAU - Alvarez, Luis AU - Alvarez L AD - Center of Advanced European Studies and Research (Caesar), Department of Molecular Sensory Systems, Bonn, Germany. FAU - Blank, Nelli AU - Blank N AD - Center of Advanced European Studies and Research (Caesar), Minerva Research Group Molecular Physiology, Bonn, Germany. FAU - Balbach, Melanie AU - Balbach M AD - Center of Advanced European Studies and Research (Caesar), Minerva Research Group Molecular Physiology, Bonn, Germany. FAU - Turunen, Heikki AU - Turunen H AD - Department of Physiology and Turku Center for Disease Modeling, Institute of Biomedicine, University of Turku, Turku, Finland; Turku Doctoral Programme of Biomedical Sciences, Turku, Finland. FAU - Laajala, Teemu Daniel AU - Laajala TD AD - Department of Mathematics and Statistics, University of Turku, Turku, Finland; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland. FAU - Toivanen, Jussi AU - Toivanen J AD - Department of Physiology and Turku Center for Disease Modeling, Institute of Biomedicine, University of Turku, Turku, Finland. FAU - Krutskikh, Anton AU - Krutskikh A AD - Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Campus, London, United Kingdom. FAU - Wahlberg, Niklas AU - Wahlberg N AD - Department of Biology, Lund University, Lund, Sweden. FAU - Huhtaniemi, Ilpo AU - Huhtaniemi I AD - Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Campus, London, United Kingdom. FAU - Poutanen, Matti AU - Poutanen M AD - Department of Physiology and Turku Center for Disease Modeling, Institute of Biomedicine, University of Turku, Turku, Finland; Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. FAU - Wachten, Dagmar AU - Wachten D AD - Center of Advanced European Studies and Research (Caesar), Minerva Research Group Molecular Physiology, Bonn, Germany.