• PMID: 28601408
• Gene Name: C9orf24
• Condition: Spermatid development, Male infertility
• Association: Associated
• Population size: 43
• Population details: 43 (12 biopsies showing normal spermatogenesis (NSP), 8 with maturation arrest at level of spermatocytes (STA), 8 with maturation arrest at level of spermatids (SDA), 4 with scattered elongating spermatids, and 12 with Sertoli cell-only syndrome, with an
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatid development, Male infertility

Expression of ciliated bronchial epithelium 1 during human spermatogenesis

Pleuger C, Fietz D, Hartmann K, Schuppe HC, Weidner W, Kliesch S, Baker M, O'Bryan MK, Bergmann M.

OBJECTIVE: To define the precise cellular localization of ciliated bronchial epithelium 1 (CBE1) in the human testis and test its relationship to impaired spermatogenesis. DESIGN: Gene expression analysis, and histologic and immunohistochemical evaluation. SETTING: University research laboratories and andrologic outpatient clinic. PATIENT(S): Forty-three human testicular biopsies: 12 biopsies showing normal spermatogenesis (NSP), 8 with maturation arrest at level of spermatocytes (STA), 8 with maturation arrest at level of spermatids (SDA), 4 with scattered elongating spermatids, and 12 with Sertoli cell-only syndrome, with an additional 5 semen samples from healthy donors. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Evaluation of CBE1 expression in normal as well as impaired spermatogenesis on mRNA (quantitative reverse-transcription polymerase chain reaction and in situ hybridization) and protein level (immunohistochemistry, Western blot analysis). RESULT(S): In normal spermatogenesis, CBE1 mRNA was expressed in late pachytene spermatocytes, and the protein was localized within the flagellum of elongating spermatids from stage V up to the spermiation in stage II. Immunoelectron microscopy showed CBE1 clearly associated with microtubules at the manchette, the head-tail coupling apparatus, and the flagellum, but the protein was absent in spermatozoa. Compared with normal spermatogenesis, CBE1 mRNA was statistically significantly reduced in samples with a maturation arrest at the level of round spermatids and primary spermatocytes, and was absent in samples showing Sertoli cell-only syndrome. CBE1 protein was completely missing in SDA samples showing few elongating spermatids. CONCLUSION(S): Our data strongly suggest an influence of CBE1 in ciliogenesis in spermatids due to the localization at the microtubules of the elongating spermatids, indicating a role in the intramanchette and/or intraflagellar transport mechanism. The absence of CBE1 in spermatozoa suggests that CBE1 is important for the spermatid development but not for the maintenance of mature spermatozoa as a component of the flagellum. CI - Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Pleuger, Christiane AU - Pleuger C AD - Institute for Veterinary Anatomy, Histology und Embryology, Justus Liebig University, Giessen, Germany. Electronic address: christiane.pleuger@vetmed.uni-giessen.de. FAU - Fietz, Daniela AU - Fietz D AD - Institute for Veterinary Anatomy, Histology und Embryology, Justus Liebig University, Giessen, Germany. FAU - Hartmann, Katja AU - Hartmann K AD - Institute for Veterinary Anatomy, Histology und Embryology, Justus Liebig University, Giessen, Germany. FAU - Schuppe, Hans-Christian AU - Schuppe HC AD - Clinic for Urology, Pediatric Urology and Andrology, Justus Liebig University, Giessen, Germany. FAU - Weidner, Wolfgang AU - Weidner W AD - Clinic for Urology, Pediatric Urology and Andrology, Justus Liebig University, Giessen, Germany. FAU - Kliesch, Sabine AU - Kliesch S AD - Department of Clinical Andrology, Centre for Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany. FAU - Baker, Mark AU - Baker M AD - School of Environmental and Life Science, University of Newcastle, Callaghan, New South Wales, Australia. FAU - O'Bryan, Moira K AU - O'Bryan MK AD - Development and Stems Cells Program, Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria, Australia.