SIRT1 mediates KU70 to maintain genomic stability in spermatogonial stem cells via the NHEJ repair pathway

Male infertility is closely related to DNA double-strand breaks in spermatogonial stem cells (SSCs); however, the precise mechanism still remains to be fully elucidated. While SIRT1 is a key regulator of DNA damage response and cellular senescence in other contexts, its role in SSCs is still poorly understood. In this study, human testicular single-cell RNA sequencing datasets were reanalyzed to characterize SSC transcriptional programs in non-obstructive azoospermia (NOA) patients. Clinical validation was performed on testicular sections from obstructive azoospermia controls and NOA patients. X-ray irradiation and hydroxyurea-based DNA damage models were applied to interrogate SSC DNA damage responses in vivo and in vitro. Immunofluorescence, western blotting, co-immunoprecipitation, growth and survival assays, flow cytometry, a GFP-based NHEJ reporter, and acetylation analyses were used to define SIRT1-associated pathways. Single-cell analysis revealed an overall attenuation of NHEJ-related signatures and reduced SIRT1 expression in SSCs from NOA compared with controls. In clinical specimens, confocal immunofluorescence confirmed a reduced SSC pool and decreased SIRT1 and 53BP1 signals within PLZF-positive SSCs, while KU70 levels were not significantly changed. In experimental models, acute DNA damage induced a rapid SIRT1 response in SSCs. Functional assays showed that SIRT1 supports SSC homeostasis by promoting proliferative capacity and influencing apoptosis and survival under hydroxyurea-induced DNA damage. Mechanistically, SIRT1 co-localized and physically interacted with KU70, with enhanced association under genotoxic stress. NHEJ reporter assays showed reduced repair efficiency following Sirt1 knockdown. Moreover, Sirt1 overexpression may down-regulate KU70 acetylation, indicating a deacetylation-dependent mechanism in NHEJ regulation. Collectively, these findings identify SIRT1 as a stress-responsive regulator of SSC genome maintenance that functionally cooperates with KU70 to support NHEJ-associated repair and limit DNA damage-driven SSC loss. The SIRT1-KU70 axis represents a potential target to mitigate genotoxic injury-associated germline stem cell attrition and preserve male fertility.

Authors

Institutions

Publication Details

Journal
Cell Death and Disease
Published
2026-04-07
DOI
https://doi.org/10.1038/s41419-026-08710-4
Primary Topic
Sperm and Testicular Function
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

SIRT1 mediates KU70 to maintain genomic stability in spermatogonial stem cells via the NHEJ repair pathway

Qiong Wang, Wenhan Ju, Wei Le, Qiaorui Yang et al.
Cell Death and Disease
Sperm and Testicular Function
article

SIRT1 mediates KU70 to maintain genomic stability in spermatogonial stem cells via the NHEJ repair pathway

Qiong Wang, Wenhan Ju, Wei Le, Qiaorui Yang, Yan Hong, Xin Xin
article en

Abstract

Male infertility is closely related to DNA double-strand breaks in spermatogonial stem cells (SSCs); however, the precise mechanism still remains to be fully elucidated. While SIRT1 is a key regulator of DNA damage response and cellular senescence in other contexts, its role in SSCs is still poorly understood. In this study, human testicular single-cell RNA sequencing datasets were reanalyzed to characterize SSC transcriptional programs in non-obstructive azoospermia (NOA) patients. Clinical validation was performed on testicular sections from obstructive azoospermia controls and NOA patients. X-ray irradiation and hydroxyurea-based DNA damage models were applied to interrogate SSC DNA damage responses in vivo and in vitro. Immunofluorescence, western blotting, co-immunoprecipitation, growth and survival assays, flow cytometry, a GFP-based NHEJ reporter, and acetylation analyses were used to define SIRT1-associated pathways. Single-cell analysis revealed an overall attenuation of NHEJ-related signatures and reduced SIRT1 expression in SSCs from NOA compared with controls. In clinical specimens, confocal immunofluorescence confirmed a reduced SSC pool and decreased SIRT1 and 53BP1 signals within PLZF-positive SSCs, while KU70 levels were not significantly changed. In experimental models, acute DNA damage induced a rapid SIRT1 response in SSCs. Functional assays showed that SIRT1 supports SSC homeostasis by promoting proliferative capacity and influencing apoptosis and survival under hydroxyurea-induced DNA damage. Mechanistically, SIRT1 co-localized and physically interacted with KU70, with enhanced association under genotoxic stress. NHEJ reporter assays showed reduced repair efficiency following Sirt1 knockdown. Moreover, Sirt1 overexpression may down-regulate KU70 acetylation, indicating a deacetylation-dependent mechanism in NHEJ regulation. Collectively, these findings identify SIRT1 as a stress-responsive regulator of SSC genome maintenance that functionally cooperates with KU70 to support NHEJ-associated repair and limit DNA damage-driven SSC loss. The SIRT1-KU70 axis represents a potential target to mitigate genotoxic injury-associated germline stem cell attrition and preserve male fertility.

Cell Death and Disease
Tongji University (CN), Shanghai University of Traditional Chinese Medicine (CN), Longhua Hospital Shanghai University of Traditional Chinese Medicine (CN), Shanghai Guanghua Hospital of Integrated Traditional Chinese and Western Medicine (CN), Shenzhen Luohu People's Hospital (CN), Tongji Hospital (CN)
Openalex Percentile: Top 24%
Sperm and Testicular Function
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.