• PMID: 29236364
• Gene Name: IFT140
• Condition: Important for male fertility and spermiogenesis
• Association: Associated
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Important for male fertility and spermiogenesis

Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice

Zhang Y, Liu H, Li W, Zhang Z, Zhang S, Teves ME, Stevens C, Foster JA, Campbell GE, Windle JJ, Hess RA, Pazour GJ, Zhang Z.

Intraflagellar transport (IFT) is a conserved mechanism essential for the assembly and maintenance of most eukaryotic cilia and flagella. However, little is known about its role in sperm flagella formation and male fertility. IFT140 is a component of IFT-A complex. In mouse, it is highly expressed in the testis. Ift140 gene was inactivated specifically in mouse spermatocytes/spermatids. The mutant mice did not show any gross abnormalities, but all were infertile and associated with significantly reduced sperm number and motility. Multiple sperm morphological abnormalities were discovered, including amorphous heads, short/bent flagella and swollen tail tips, as well as vesicles along the flagella due to spermiogenesis defects. The epididymides contained round bodies of cytoplasm derived from the sloughing of the cytoplasmic lobes and residual bodies. Knockout of Ift140 did not significantly affect testicular expression levels of selective IFT components but localization of IFT27 and IFT88, two components of IFT-B complex, was changed. Our findings demonstrate that IFT140 is a key regulator for male fertility and normal spermiogenesis in mice. It not only plays a role in sperm flagella assembling, but is also involved in critical assembly of proteins that interface between the germ cell plasma and the Sertoli cell. CI - © 2017 Wiley Periodicals, Inc. FAU - Zhang, Yong AU - Zhang Y AD - Department of Dermatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. AD - Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, Virginia 23298. FAU - Liu, Hong AU - Liu H AUID- ORCID: 0000-0002-2428-4402 AD - Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, Virginia 23298. AD - School of Public Health, Wuhan University of Science and Technology, Wuhan 430060, Hubei. FAU - Li, Wei AU - Li W AD - Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, Virginia 23298. FAU - Zhang, Zhengang AU - Zhang Z AD - Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, Virginia 23298. AD - Department of Gastroenterology, Tongji Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei. FAU - Zhang, Shiyang AU - Zhang S AD - Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, Virginia 23298. AD - School of Public Health, Wuhan University of Science and Technology, Wuhan 430060, Hubei. FAU - Teves, Maria E AU - Teves ME AD - Department of Obstetrics & Gynecology, Virginia Commonwealth University, Richmond, Virginia 23298. FAU - Stevens, Courtney AU - Stevens C AD - Department of Biology, Randolph-Macon College, Ashland, Virginia 23005. FAU - Foster, James A AU - Foster JA AD - Department of Biology, Randolph-Macon College, Ashland, Virginia 23005. FAU - Campbell, Gregory E AU - Campbell GE AD - Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia 23298. FAU - Windle, Jolene J AU - Windle JJ AD - Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia 23298. FAU - Hess, Rex A AU - Hess RA AD - Department of Comparative Biosciences, College of Veterinary Medicine, University of Illinois, 2001 S. Lincoln, Urbana, Illinois 61802-6199. FAU - Pazour, Gregory J AU - Pazour GJ AD - Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts 01605.