Evidence map›Paper›PMID 40966399›Full record

ArticleAdvanced science (Weinheim, Baden-Wurttemberg, Germany)2025

Excessive DNA Double-Strand Breaks-Associated 3D Genome Reorganization Contributes to Neural Tube Defects with Folate Deficiency.

Ting Zhang, Lin Lin, Jianting Li, Caihua Li, Shengjun Liang, Xuemei Bai, Fang Wang, Yihua Bao, Dan Guo, Xiaochen Bo and 3 more

Abstract read
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In one paragraph

Article in Advanced science (Weinheim, Baden-Wurttemberg, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Ting ZhangCapital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing, 100020, China.ORCID https://orcid.org/0000-0002-6100-8327
Lin LinInstitute of Health Service and Transfusion Medicine, Beijing, 100850, China.
Jianting LiDepartment of Biochemistry and Molecular Biology, College of Basic Medicine, Shanxi Key Laboratory of Birth Defect and Cell Regeneration, MOE Key Laboratory of Coal Environmental Pathogenicity and Prevention, Taiyuan, 030001, China.
Caihua LiShanghai GeneCowin Biotechnology Co., Ltd., Shanghai, 200120, China.
Shengjun LiangDepartment of Children's and Adolescent Health, Public Health College, Harbin Medical University, Harbin, 150081, China.
Xuemei BaiInstitute of Health Service and Transfusion Medicine, Beijing, 100850, China.
Fang WangCapital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing, 100020, China.
Yihua BaoCapital Center for Children's Health, Capital Medical University, Capital Institute of Pediatrics, Beijing, 100020, China.
Dan GuoCenter for Biomedical Technology, Institute of Clinical Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China.
Xiaochen BoInstitute of Health Service and Transfusion Medicine, Beijing, 100850, China.
Hao LiInstitute of Health Service and Transfusion Medicine, Beijing, 100850, China.
Hebing ChenInstitute of Health Service and Transfusion Medicine, Beijing, 100850, China.
Qiu XieState Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking, Union Medical College, Beijing, 100850, China.ORCID https://orcid.org/0000-0003-2980-7273

Funding

Beijing Finance Bureau CIP2024-0040National Key Research and Development Program 2022YFC2703802National Science Foundation of China, Beijing, China 81801453National Science Foundation of China, Beijing, China 81971390National Science Foundation of China, Beijing, China 82201841National Science Foundation of China, Beijing, China 8227173National Science Foundation of China, Beijing, China 82271731Open Research Fund of National Health Commission Key Laboratory of Birth Defects Prevention NHCKLBDP202501
6 · The paper itself

Abstract

Neural tube defects (NTDs) are one of the most common congenital malformations. Folic acid deficiency in pregnant women increases the risk of developing NTDs; however, the underlying etiology and mechanisms remain elusive. In this study, the role of DNA double-strand breaks (DSBs) in 3D genome organization in NTDs with folate deficiency is reported. The NTD mouse model is burdened with abundant DSBs associated with the disruption of 3D genome organization. DSBs occurring in active genes lead to the stalling of RNA polymerase II (Pol II) and formation of R-loops in the 3D genome. The DSB ratios of the genomic regions negatively correlated with the distance from the transcription start sites of the gene. The DSB ratios of the proximal and distal enhancers are significantly higher and induce the displacement of loops with busy anchors. Furthermore, DSB-associated dysregulation of chromatin loops occurs in neural tube closure-associated genes that are abnormally expressed in human NTDs. Taken together, excessive DSB-associated 3D genome organization disruption within NTDs with folate deficiency contributes to the dysregulation of neural tube closure-associated genes.

Indexed as

DNA Breaks, Double-StrandedFolic Acid DeficiencyNeural Tube DefectsAnimalsDisease Models, AnimalFemaleHumansMicePregnancy3D genomeDNA double‐strand breaksfolic acidhigh‐throughput chromosome conformationneural tube defects

Identifiers

PMID40966399
PMCPMC12713105

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.