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.
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http://dx.doi.org/10.1071/RD23061 | DOI Listing |
Nat Rev Urol
January 2025
Discipline of Biological Sciences, College of Engineering, Science and Environment, The University of Newcastle, Callaghan, New South Wales, Australia.
Multiple conditions can cause hypoxia in the testis, including exposure to high altitude, sleep apnoea, testicular torsion and varicocele. Varicocele accounts for up to 44% of instances of primary infertility, but the cumulative contribution of hypoxic conditions to male infertility is undefined. Results of controlled hypobaric hypoxia studies have demonstrated a substantial detrimental effect of short-term and long-term exposures on sperm; however, downstream effects on embryo development and offspring health are less well understood.
View Article and Find Full Text PDFCancer
January 2025
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Background: Testicular germ cell tumors (TGCTs) are the most common cancers among young men in the United States. Incidence rates among non-Hispanic White (NHW) men historically have been much higher than the rates among other men. To study whether this pattern had changed, the authors examined trends in TGCT incidence for the years 1992-2021.
View Article and Find Full Text PDFHum Cell
January 2025
Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, 310052, China.
This research delves into Primary Hyperoxaluria Type 2 (PH2), an autosomal recessive disorder precipitated by a unique case of compound heterozygous deleterious mutations in the GRHPR gene, specifically the intron2/3 c.214-2 T > G and the exon8 c.864-865delTG, leading to a premature stop codon at p.
View Article and Find Full Text PDFZool Res
January 2025
Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623, China. E-mail:
The proteasome, an evolutionarily conserved proteolytic complex comprising the 20S core particle and 19S regulatory particles, performs both shared and distinct functions across various tissues and organs. Spermatogenesis, a highly complex developmental process, relies on proteasome activity at multiple stages to regulate protein turnover. In this study, we selected the 20S subunit PSMA1 and 19S regulatory subunit PSMD2 to investigate the potential functions of the proteasome in spermatogenesis.
View Article and Find Full Text PDFPreserving a large number of essential yet highly unstable ribosomal DNA (rDNA) repeats is critical for the germline to perpetuate the genome through generations. Spontaneous rDNA loss must be countered by rDNA copy number (CN) expansion. Germline rDNA CN expansion is best understood in Drosophila melanogaster, which relies on unequal sister chromatid exchange (USCE) initiated by DNA breaks at rDNA.
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