• PMID: 27717557
• Gene Name: KATNB1
• Condition: Role in flagella formation in sperm, Male infertility
• Association: Associated
• Population size: 80
• Population details: 80 (43 showing normal spermatogenesis, 9 with maturation arrest at level of spermatocytes, 8 with maturation arrest at level of spermatogonia, and 20 with a Sertoli cell only syndrome)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Role in flagella formation in sperm, Male infertility

Expression of katanin p80 in human spermatogenesis

Pleuger C, Fietz D, Hartmann K, Weidner W, Kliesch S, O'Bryan MK, Dorresteijn A, Bergmann M.

OBJECTIVE: To define the stage-by-stage expression of KATNB1 during human spermatogenesis. DESIGN: Gene expression analysis, histologic and immunohistochemical evaluation. SETTING: University research laboratories and andrological clinic. PATIENT(S): Eighty human testicular biopsy samples: 43 showing normal spermatogenesis, 9 with maturation arrest at level of spermatocytes, 8 with maturation arrest at level of spermatogonia, and 20 with a Sertoli cell only syndrome. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Evaluation of katanin p80 expression in normal as well as impaired spermatogenesis on mRNA (RT-PCR, RT-qPCR, and in situ hybridization) and protein level (immunohistochemistry/immunofluorescence). RESULT(S): KATNB1 messenger RNA is exclusively expressed in germ cells, and quantitatively reduced in maturation arrests at the level of spermatogonia. The KATNB1 protein was detected in type B spermatogonia entering meiosis and in the Golgi complex of pachytene spermatocytes. Immediately before the first meiotic division, it is colocalized with the cleaving centriole. It was also detected in early round spermatids in the dictyosome. CONCLUSION(S): The expression and localization of KATNB1 support a role in spindle formation. The localization of KATNB1 in early round spermatids suggests an involvement in the formation of microtubule-based structures during spermiogenesis (manchette and flagellum). These data are consistent with the demonstrated role of KATNB1 in mouse meiosis, nuclear shaping, and flagellum formation of sperm and suggest the strong conservation of function even between distantly related species. CI - Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Pleuger, Christiane AU - Pleuger C AD - Institute for Veterinary, Anatomy, Histology and 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 and Embryology, Justus Liebig University, Giessen, Germany. FAU - Hartmann, Katja AU - Hartmann K AD - Institute for Veterinary, Anatomy, Histology and Embryology, 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 - O'Bryan, Moira K AU - O'Bryan MK AD - The Development and Stems Cells program of Monash Biomedicine Discovery Institute and The Department of Anatomy and Developmental Biology, Monash University, Clayton, Victoria, Australia. FAU - Dorresteijn, Adriaan AU - Dorresteijn A AD - Institute for General Zoology and Developmental Biology, Justus Liebig University, Giessen, Germany.