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解旋酶 Q 促进同源性驱动的 DNA 双链断裂修复并防止串联重复。

Helicase Q promotes homology-driven DNA double-strand break repair and prevents tandem duplications.

机构信息

Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.

Institute of Biology Leiden, Leiden University, Sylviusweg 72, 2333 BE, Leiden, The Netherlands.

出版信息

Nat Commun. 2021 Dec 8;12(1):7126. doi: 10.1038/s41467-021-27408-z.


DOI:10.1038/s41467-021-27408-z
PMID:34880204
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8654963/
Abstract

DNA double-strand breaks are a major threat to cellular survival and genetic integrity. In addition to high fidelity repair, three intrinsically mutagenic DNA break repair routes have been described, i.e. single-strand annealing (SSA), polymerase theta-mediated end-joining (TMEJ) and residual ill-defined microhomology-mediated end-joining (MMEJ) activity. Here, we identify C. elegans Helicase Q (HELQ-1) as being essential for MMEJ as well as for SSA. We also find HELQ-1 to be crucial for the synthesis-dependent strand annealing (SDSA) mode of homologous recombination (HR). Loss of HELQ-1 leads to increased genome instability: patchwork insertions arise at deletion junctions due to abortive rounds of polymerase theta activity, and tandem duplications spontaneously accumulate in genomes of helq-1 mutant animals as a result of TMEJ of abrogated HR intermediates. Our work thus implicates HELQ activity for all DSB repair modes guided by complementary base pairs and provides mechanistic insight into mutational signatures common in HR-defective cancers.

摘要

DNA 双链断裂是细胞生存和遗传完整性的主要威胁。除了高保真修复外,还描述了三种内在的具有突变性的 DNA 断裂修复途径,即单链退火(SSA)、聚合酶θ介导的末端连接(TMEJ)和残余定义不明确的微同源介导的末端连接(MMEJ)活性。在这里,我们确定线虫的解旋酶 Q(HELQ-1)对于 MMEJ 以及 SSA 是必需的。我们还发现 HELQ-1 对于合成依赖性链退火(SDSA)同源重组(HR)模式至关重要。HELQ-1 的缺失会导致基因组不稳定性增加:由于聚合酶θ活性的失败回合,在缺失连接处会出现补丁状插入,并且由于 HR 中间产物的 TMEJ 而导致 tandem 重复在 helq-1 突变体动物的基因组中自发积累。因此,我们的工作表明 HELQ 活性对于所有由互补碱基对指导的 DSB 修复模式都是必需的,并为 HR 缺陷型癌症中常见的突变特征提供了机制上的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046f/8654963/305dfa9d3d99/41467_2021_27408_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046f/8654963/8a81285011d5/41467_2021_27408_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046f/8654963/d55bf6f3fe7b/41467_2021_27408_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046f/8654963/aec0f642ad03/41467_2021_27408_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046f/8654963/305dfa9d3d99/41467_2021_27408_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046f/8654963/8a81285011d5/41467_2021_27408_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046f/8654963/d55bf6f3fe7b/41467_2021_27408_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046f/8654963/aec0f642ad03/41467_2021_27408_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/046f/8654963/305dfa9d3d99/41467_2021_27408_Fig4_HTML.jpg

相似文献

[1]
Helicase Q promotes homology-driven DNA double-strand break repair and prevents tandem duplications.

Nat Commun. 2021-12-8

[2]
Helicase HELQ: Molecular Characters Fit for DSB Repair Function.

Int J Mol Sci. 2024-8-8

[3]
Meiotic Double-Strand Break Proteins Influence Repair Pathway Utilization.

Genetics. 2018-9-21

[4]
Single-strand annealing mediates the conservative repair of double-strand DNA breaks in homologous recombination-defective germ cells of Caenorhabditis elegans.

DNA Repair (Amst). 2019-1-24

[5]
Division of Labor by the HELQ, BLM, and FANCM Helicases during Homologous Recombination Repair in .

Genes (Basel). 2022-3-8

[6]
Single-Strand Annealing Plays a Major Role in Double-Strand DNA Break Repair following CRISPR-Cas9 Cleavage in .

mSphere. 2019-8-21

[7]
Contribution of Microhomology to Genome Instability: Connection between DNA Repair and Replication Stress.

Int J Mol Sci. 2022-10-26

[8]
The APE2 nuclease is essential for DNA double-strand break repair by microhomology-mediated end joining.

Mol Cell. 2023-5-4

[9]
Annealing of Complementary DNA Sequences During Double-Strand Break Repair in Is Mediated by the Ortholog of SMARCAL1.

Genetics. 2017-5

[10]
Overlapping mechanisms promote postsynaptic RAD-51 filament disassembly during meiotic double-strand break repair.

Mol Cell. 2010-1-29

引用本文的文献

[1]
HELQ Maintains Genome Stability of Primordial Germ Cells by Inhibiting LINE-1 Expression.

FASEB J. 2025-6-30

[2]
Division of labor within polymerase theta in repair of CRISPR-induced DNA breaks in .

PNAS Nexus. 2025-6-3

[3]
HELQ upregulates PARP1 to drive platinum resistance and predict therapeutic response in ovarian cancer.

Transl Oncol. 2025-7

[4]
FAN1-mediated translesion synthesis and POLQ/HELQ-mediated end joining generate interstrand crosslink-induced mutations.

Nat Commun. 2025-3-13

[5]
POLD3 as Controller of Replicative DNA Repair.

Int J Mol Sci. 2024-11-19

[6]
Helicase HELQ: Molecular Characters Fit for DSB Repair Function.

Int J Mol Sci. 2024-8-8

[7]
Regulation of Precise DNA Repair by Nuclear Actin Polymerization: A Chance for Improving Gene Therapy?

Cells. 2024-6-24

[8]
HELQ as a DNA helicase: Its novel role in normal cell function and tumorigenesis (Review).

Oncol Rep. 2023-12

[9]
Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common Fragile Site Stability via a FANCD2-Driven Mechanism That Requires HELQ.

J Mol Biol. 2023-11-15

[10]
Experimental systems for the analysis of mutational signatures: no 'one-size-fits-all' solution.

Biochem Soc Trans. 2023-6-28

本文引用的文献

[1]
The HelQ human DNA repair helicase utilizes a PWI-like domain for DNA loading through interaction with RPA, triggering DNA unwinding by the HelQ helicase core.

NAR Cancer. 2021-1-12

[2]
Protection of the C. elegans germ cell genome depends on diverse DNA repair pathways during normal proliferation.

PLoS One. 2021-4-27

[3]
The molecular basis and disease relevance of non-homologous DNA end joining.

Nat Rev Mol Cell Biol. 2020-12

[4]
BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining.

Nat Commun. 2020-7-17

[5]
Mutational signatures are jointly shaped by DNA damage and repair.

Nat Commun. 2020-5-1

[6]
Mechanistic basis for microhomology identification and genome scarring by polymerase theta.

Proc Natl Acad Sci U S A. 2020-3-31

[7]
Control of homologous recombination by the HROB-MCM8-MCM9 pathway.

Genes Dev. 2019-8-29

[8]
Distinct roles of RAD52 and POLQ in chromosomal break repair and replication stress response.

PLoS Genet. 2019-8-5

[9]
Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining.

Trends Genet. 2019-7-8

[10]
DNA double-strand break repair-pathway choice in somatic mammalian cells.

Nat Rev Mol Cell Biol. 2019-7-1

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