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哺乳类聚合酶θ促进替代性非同源末端连接和抑制重组。

Mammalian polymerase θ promotes alternative NHEJ and suppresses recombination.

机构信息

Skirball Institute of Biomolecular Medicine, Department of Cell Biology, NYU School of Medicine, New York, New York 10016, USA.

Department of Molecular Biosciences, Institute for Cellular and Molecular Biology, University of Texas at Austin. 2506 Speedway Stop A5000, Austin, Texas 78712, USA.

出版信息

Nature. 2015 Feb 12;518(7538):254-7. doi: 10.1038/nature14157. Epub 2015 Feb 2.


DOI:10.1038/nature14157
PMID:25642960
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4718306/
Abstract

The alternative non-homologous end-joining (NHEJ) machinery facilitates several genomic rearrangements, some of which can lead to cellular transformation. This error-prone repair pathway is triggered upon telomere de-protection to promote the formation of deleterious chromosome end-to-end fusions. Using next-generation sequencing technology, here we show that repair by alternative NHEJ yields non-TTAGGG nucleotide insertions at fusion breakpoints of dysfunctional telomeres. Investigating the enzymatic activity responsible for the random insertions enabled us to identify polymerase theta (Polθ; encoded by Polq in mice) as a crucial alternative NHEJ factor in mammalian cells. Polq inhibition suppresses alternative NHEJ at dysfunctional telomeres, and hinders chromosomal translocations at non-telomeric loci. In addition, we found that loss of Polq in mice results in increased rates of homology-directed repair, evident by recombination of dysfunctional telomeres and accumulation of RAD51 at double-stranded breaks. Lastly, we show that depletion of Polθ has a synergistic effect on cell survival in the absence of BRCA genes, suggesting that the inhibition of this mutagenic polymerase represents a valid therapeutic avenue for tumours carrying mutations in homology-directed repair genes.

摘要

替代性非同源末端连接(NHEJ)机制促进了几种基因组重排,其中一些可导致细胞转化。这种易错的修复途径是在端粒去保护后触发的,以促进有害染色体端到端融合的形成。使用下一代测序技术,我们在这里表明,替代性 NHEJ 通过修复在功能失调的端粒融合断点处产生非 TTAGGG 核苷酸插入。研究负责随机插入的酶活性使我们能够鉴定出聚合酶θ(Polθ;在小鼠中由 Polq 编码)为哺乳动物细胞中至关重要的替代性 NHEJ 因子。Polq 抑制可抑制功能失调的端粒处的替代性 NHEJ,并阻碍非端粒部位的染色体易位。此外,我们发现小鼠中 Polq 的缺失会导致同源定向修复的速率增加,这可通过功能失调的端粒的重组和双链断裂处 RAD51 的积累来证明。最后,我们表明,在缺乏 BRCA 基因的情况下,Polθ 的耗竭对细胞存活具有协同作用,这表明抑制这种诱变聚合酶代表了携带同源定向修复基因突变的肿瘤的有效治疗途径。

相似文献

[1]
Mammalian polymerase θ promotes alternative NHEJ and suppresses recombination.

Nature. 2015-2-2

[2]
Homologous-recombination-deficient tumours are dependent on Polθ-mediated repair.

Nature. 2015-2-2

[3]
Marked contribution of alternative end-joining to chromosome-translocation-formation by stochastically induced DNA double-strand-breaks in G2-phase human cells.

Mutat Res Genet Toxicol Environ Mutagen. 2015-11

[4]
BRCA1 and CtIP promote alternative non-homologous end-joining at uncapped telomeres.

EMBO J. 2015-1-12

[5]
The helicase domain of Polθ counteracts RPA to promote alt-NHEJ.

Nat Struct Mol Biol. 2017-12

[6]
Telomere-Internal Double-Strand Breaks Are Repaired by Homologous Recombination and PARP1/Lig3-Dependent End-Joining.

Cell Rep. 2016-11-1

[7]
A role for human homologous recombination factors in suppressing microhomology-mediated end joining.

Nucleic Acids Res. 2016-7-8

[8]
Requirement for Parp-1 and DNA ligases 1 or 3 but not of Xrcc1 in chromosomal translocation formation by backup end joining.

Nucleic Acids Res. 2014-6

[9]
IgH class switching and translocations use a robust non-classical end-joining pathway.

Nature. 2007-9-27

[10]
Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.

Carcinogenesis. 2014-10-7

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[2]
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[3]
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[4]
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[5]
Restriction of Ku translocation protects telomere ends.

Nat Commun. 2025-7-24

[6]
PARP1 and PARP2 are dispensable for DNA repair by microhomology-mediated end-joining during mitosis.

bioRxiv. 2025-6-9

[7]
ADH5/ALDH2 dehydrogenases and DNA polymerase theta protect normal and malignant hematopoietic cells from formaldehyde challenge: therapeutic implications.

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[8]
Pol θ-mediated end-joining uses microhomologies containing mismatches.

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[9]
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[10]
Polymerase theta expression is correlated with proliferative capacity but not with DNA repair deficiency status in solid tumors.

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本文引用的文献

[1]
A role for DNA polymerase θ in the timing of DNA replication.

Nat Commun. 2014-7-3

[2]
Polymerase theta-mediated end joining of replication-associated DNA breaks in C. elegans.

Genome Res. 2014-3-10

[3]
RPA antagonizes microhomology-mediated repair of DNA double-strand breaks.

Nat Struct Mol Biol. 2014-3-9

[4]
Nucleosome acidic patch promotes RNF168- and RING1B/BMI1-dependent H2AX and H2A ubiquitination and DNA damage signaling.

PLoS Genet. 2014-3-6

[5]
A Polymerase Theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites.

Nat Commun. 2014

[6]
Engineered proteins detect spontaneous DNA breakage in human and bacterial cells.

Elife. 2013-10-29

[7]
RPA coordinates DNA end resection and prevents formation of DNA hairpins.

Mol Cell. 2013-5-23

[8]
Microhomology-mediated End Joining and Homologous Recombination share the initial end resection step to repair DNA double-strand breaks in mammalian cells.

Proc Natl Acad Sci U S A. 2013-4-22

[9]
Development of an assay to measure mutagenic non-homologous end-joining repair activity in mammalian cells.

Nucleic Acids Res. 2013-4-12

[10]
A two-step mechanism for TRF2-mediated chromosome-end protection.

Nature. 2013-2-6

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