medRxivGenetic & Genomic MedicinePreprint
High prevalence of loss of Y chromosome in the spermatozoa of young cancer survivors
Jonatan AxelssoniD, Bożena Bruhn‐OlszewskaiD, Daniil Sarkysian, Ellen MarkljungiD, Monika HorbacziD, Indira PláiD, A Sanchez, Hannah A. NenoneniD, Angel ElenkoviD, Jan Piotr DumanskiiD, Aleksander GiwercmaniD
Abstract
Cancer-related genomic instability (GI) may cause genetic alterations in spermatozoa, implying health issues not only in cancer survivors, but also in their children [1, 2]. We therefore studied Loss of Y chromosome (LOY), considered as hallmark of GI [3-15], in spermatozoa and blood from survivors of childhood and testicular cancer (CC, TC), and controls (CTRL). We found that LOY was statistically significantly more frequent in spermatozoa from cancer survivors than in controls (Odds Ratio [OR]=2.2 for CC vs. CTRL and OR=2.4 for TC vs. CTRL). Furthermore, LOY was about an order of magnitude more prevalent in spermatozoa than in blood among 18-53-year-old males within all cohorts. Our findings suggest that LOY in spermatozoa might be a clinically useful marker of GI, reduced fertility and disease predisposition in males. Introducing LOY in spermatozoa as a biomarker opens a new research avenue into disease prevention and the causes and consequences of LOY.
- Citations
- 0
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Loss of chromosome Y in primary tumors
M. Qi, J. Pang, … E. Rheinbay·bioRxiv·Aug 22, 2022
- Age-related loss of the Y chromosome is associated with sex hormone binding globulin and selected drivers of clonal hematopoiesis
Ahmed A. Z. Dawoud, William Tapper, Nicholas C.P. Cross·medRxiv·Sep 5, 2022
- Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers
Deborah J. Thompson, Giulio Genovese, … John R. B. Perry·bioRxiv·Jan 8, 2019
- Selective loss of Y chromosomes in lung adenocarcinoma modulates the tumor immune environment through cancer/testis antigens
Jonas Fischer, Katherine Hoff Shutta, … John F Quackenbush·bioRxiv·Sep 19, 2024
- Loss of the Y chromosome is transcriptionally silent in clear cell renal cell carcinoma and across cancer entities
Alex Waterhölter, Rebecca Scholz, … Ian J. Frew·bioRxiv·Oct 9, 2026
- Loss of chromosome Y shapes the immune cell fate with aging in men
Ahmed A. Z. Dawoud, Luke Green, Owen J. L. Rackham·medRxiv·Jun 1, 2025