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The homologous recombination factors BRCA2 and PALB2 interplay with mismatch repair pathways to maintain centromere stability and cell viability

Abstract:
Centromeres are crucial for chromosome segregation but are vulnerable to breakage and recombination due to their repetitive DNA. The mechanisms protecting centromeres from these instabilities remain incompletely understood. This study investigates the role of the homologous recombination (HR) mediators BRCA2 and PALB2 in centromere stability. We find that BRCA2, but not PALB2, is essential for maintaining a human artificial chromosome. In native chromosomes, BRCA2 ensures CENP-A occupancy and prevents DNA fragility at centromeres. Conversely, PALB2 does not affect CENP-A, whereas its depletion increases centromeric DNA breaks in non-cancerous cells only. Interestingly, depleting the mismatch repair (MMR) factor MLH1 masks centromere fragility caused by BRCA2 or PALB2 loss, suggesting that MLH1 contributes to DNA instability when BRCA2 or PALB2 is absent. However, cells deficient in both BRCA2/PALB2 and MLH1 have reduced survival. These results highlight a critical balance between HR and MMR factors in preserving centromere integrity and cell viability.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.celrep.2025.115259

Authors

More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Pathology Dunn School
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Pathology Dunn School
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Pathology Dunn School
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Pathology Dunn School
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Pathology Dunn School
Role:
Author


More from this funder
Funder identifier:
https://ror.org/03x94j517
Funding agency for:
Graham, E
Grant:
18/19_MSD_2111222
Programme:
Medical Sciences Graduate School studentship
More from this funder
Funder identifier:
https://ror.org/00cwqg982
Funding agency for:
Rampazzo, L
Grant:
BB/M011224/1
Programme:
Project 175778
More from this funder
Funder identifier:
https://ror.org/029chgv08
Funding agency for:
Esashi, F
Grant:
101009/Z/13/Z
Programme:
Wellcome Trust Senior Research Fellowships in Basic Biomedical Science
More from this funder
Funder identifier:
https://ror.org/00097mb19
Funding agency for:
Kanemaki, MT
Grant:
JPMJCR21E6
More from this funder
Funder identifier:
https://ror.org/00hhkn466
Funding agency for:
Kanemaki, MT
Grant:
JP23H04925
JP21H04719


Publisher:
Cell Press
Journal:
Cell Reports More from this journal
Volume:
44
Issue:
2
Article number:
115259
Place of publication:
United States
Publication date:
2025-01-31
Acceptance date:
2025-01-13
DOI:
EISSN:
2211-1247
ISSN:
2639-1856
Pmid:
39893637


Language:
English
Keywords:
Pubs id:
2083850
Local pid:
pubs:2083850
Deposit date:
2025-02-20
ARK identifier:

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