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Reproduction, Fertility and Development Reproduction, Fertility and Development Society
Vertebrate reproductive science and technology
RESEARCH ARTICLE (Open Access)

Increased DNA strand breaks in spermatozoa of Pxt1 knockout mice

Bernadetta Pawlicka A , Michał Duliban https://orcid.org/0000-0002-0677-060X B , Mateusz Zięba A , Michał Bochenek C , Kamila Zięba A , Ibrahim Adham D , Maja Studencka-Turski D , Andreas Meinhardt E and Paweł Grzmil https://orcid.org/0000-0001-9780-2007 A *
+ Author Affiliations
- Author Affiliations

A Laboratory of Genetics and Evolutionism, Institute of Zoology and Biomedical Research, Jagiellonian University in Kraków, Kraków, Poland.

B Department of Endocrinology, Institute of Zoology and Biomedical Research, Jagiellonian University in Kraków, Kraków, Poland.

C Malopolska Centre of Biotechnology, Jagiellonian University in Kraków, Kraków, Poland.

D Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.

E Institute of Anatomy and Cell Biology, Justus-Liebig-University, Giessen, Germany.

* Correspondence to: pawel.grzmil@uj.edu.pl

Handling Editor: Jessica Dunleavy

Reproduction, Fertility and Development 35(11) 589-600 https://doi.org/10.1071/RD23061
Published online: 3 July 2023

© 2023 The Author(s) (or their employer(s)). Published by CSIRO Publishing. This is an open access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND)

Abstract

Context: The Pxt1 gene encodes a male germ cell–specific protein and its overexpression results in male germ cell degeneration and male infertility in transgenic mice.

Aims: The analysis of the function of Pxt1 during mouse spermatogenesis.

Methods: The phenotype of Pxt1 knockout mice was characterised by testicular histology, assessment of semen parameters including sperm motility, and DNA fragmentation by flow cytometry. Gene expression was analysed using RT-PCR. Fertility of mutants was checked by standard breeding and competition breeding tests.

Key results: In Pxt1−/− mice, a strong increase in the sperm DNA fragmentation index (DFI) was observed, while other sperm parameters were comparable to those of control animals. Despite enhanced DFI, mutants were fertile and able to mate in competition with wild type males.

Conclusions: Pxt1 induces cell death; thus, the higher sperm DFI of mice with targeted deletion of Pxt1 suggests some function for this gene in the elimination of male germ cells with chromatin damage.

Implications: Ablation of mouse Pxt1 results in enhanced DFI. In humans, the homologous PXT1 gene shares 74% similarity with the mouse gene; thus, it can be considered a candidate for mutation screening in patients with increased DFI.

Keywords: competition breeding test, gene expression, gene knockout, male fertility, Pxt1, spermatogenesis, sperm chromatin damage, sperm DFI.


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