Insufficient telomeric DNA damage response promotes chromosomal instability in aged oocytes

  • Sci Bull (Beijing). 2025 Aug 25:S2095-9273(25)00865-5. doi: 10.1016/j.scib.2025.08.034.
Tianqi Cao  1 Simiao Liu  1 Fang Wang  2 Min Gao  1 Wenlian Wu  1 Yanling Qiu  1 Ming Mu  3 Tengteng Xu  1 Jinkun Wen  3 Yuxi Chen  3 Haiying Liu  4 Xiqian Zhang  2 David L Keefe  5 Lin Liu  6 Fenghua Liu  7 Junjiu Huang  8
Affiliations
  • 1. MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China; Key Laboratory of Reproductive Medicine of Guangdong Province, School of Life Sciences and the First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510275, China.
  • 2. Department of Reproductive Medical Center, Guangdong Women and Children Hospital, Guangzhou 510010, China.
  • 3. MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China.
  • 4. MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China; MOE Key Laboratory of Gene Function and Regulation, Guangdong Province Key Laboratory of Pharmaceutical Functional Genes, School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China.
  • 5. Department of Obstetrics and Gynecology, NYU Langone Fertility Center, NYU Langone, New York, NY 10016, USA.
  • 6. Department of Genetics and Cell Biology, College of Life Science, Nankai University, Tianjin 300071, China.
  • 7. Department of Reproductive Medical Center, Guangdong Women and Children Hospital, Guangzhou 510010, China. Electronic address: [email protected].
  • 8. MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-sen University, Guangzhou 510275, China; Key Laboratory of Reproductive Medicine of Guangdong Province, School of Life Sciences and the First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510275, China. Electronic address: [email protected].
Abstract

Increased chromosomal instability impairs oocyte quality, contributing to female reproductive aging. The telomeric DNA damage response (DDR) is essential for genomic stability; however, how oocytes respond to telomeric damage remains elusive. Here, we observed that aged human germinal vesicle (GV) oocytes accumulated telomeric DNA damage. We next established a telomeric DNA damage model with CRISPR/Cas9 in mouse oocytes, which exhibited increased chromosome instability and impaired meiotic maturation. Furthermore, telomeric DNA damage in oocytes did not initiate telomere fusion but rather accelerated telomere movement and triggered break-induced telomere synthesis (BITS). Mechanistically, RPA32 and RAD51 were recruited to damaged telomeres, and contributed to BITS along with ATR and PARP1. However, telomeric DNA damage recruited few RNF8 in fully grown oocytes, possibly impeding the 53BP1 recruitment. Despite minimal changes in the overall activity of RAD51-promoted DNA repair in GV oocytes with maternal age, this DDR machinery was preferentially involved in non-telomeric regions in aged oocytes. Consequently, upon encountering telomeric DNA damage, aged oocytes might undergo insufficient telomeric DDR and BITS. Together, our study illustrates that telomeric DDR recruits key factors, such as RAD51, to activate BITS, and that insufficient telomeric DDR increases chromosomal instability in aged oocytes.

Keywords
Aging; DNA damage; DNA damage response; Oocytes; Telomere.
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