ArticleEuropean journal of human genetics : EJHG2012
Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 32 citations in OpenAlex.
- Multi-tissue DNA methylation analysis to identify an appropriate surrogate tissue for a unique neurological tissue specific to spina bifida.Clinical epigenetics · 2026Article
- Protective Effect of myo-Inositol Against Decitabine-Induced Neural Tube Defects in Embryonic Zebrafish.Neurotoxicity research · 2025Article
- Advances in DNA methylation of imprinted genes and folic acid regulation of growth and development.Epigenomics · 2024Review
- Embryonic exposure to decitabine induces multiple neural tube defects in developing zebrafish.Fish physiology and biochemistry · 2023Article
- Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective?International journal of molecular sciences · 2023Review
- Abnormal methylation caused by folic acid deficiency in neural tube defects.Open life sciences · 2022Review
- Genetic Polymorphisms in DNA Repair Gene APE1/Ref-1 and the Risk of Neural Tube Defects in a High-Risk Area of China.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Acquisition of chromosome 1q duplication in parental and genome-edited human-induced pluripotent stem cell-derived neural stem cells results in their higher proliferation rate in vitro and in vivo.Cell proliferation · 2020Article
- Association between hereditary predisposition to common cancers and congenital multimalformations.Congenital anomalies · 2020Article
- TRIM4 is associated with neural tube defects based on genome-wide DNA methylation analysis.Clinical epigenetics · 2019Article
- MGMT is down-regulated independently of promoter DNA methylation in rats with all-trans retinoic acid-induced spina bifida aperta.Neural regeneration research · 2019Article
- Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons.Clinical epigenetics · 2019Article
- Hypomethylation of GRHL3 gene is associated with the occurrence of neural tube defects.Epigenomics · 2018Article
- Urine mercury levels correlate with DNA methylation of imprinting gene H19 in the sperm of reproductive-aged men.PloS one · 2018Article
- Long noncoding RNA and its contribution to autism spectrum disorders.CNS neuroscience & therapeutics · 2017Review
- Fetal DNA hypermethylation in tight junction pathway is associated with neural tube defects: A genome-wide DNA methylation analysis.Epigenetics · 2017Article
- The association and significance of H3K27me3 and a folate metabolic gene ACat2 in neural tube defects.Nutrition journal · 2016Article
- Methylome analysis for spina bifida showsClinical epigenetics · 2016Article
- Levels of PAH-DNA adducts in cord blood and cord tissue and the risk of fetal neural tube defects in a Chinese population.Neurotoxicology · 2015Article
- Different epigenetic alterations are associated with abnormal IGF2/Igf2 upregulation in neural tube defects.PloS one · 2014Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We studied the genomic instability and methylation status of the mismatch-repair (MMR) genes hMLH1 and hMSH2, and the imprinted genes H19/IGF2, in fetuses with neural tube defects (NTDs) to explore the pathogenesis of the disease. Microsatellite instability (MSI) was observed in 23 of 50 NTD patients. Five NTD patients showed high-degree MSI (MSI-H) and 18 showed low-degree MSI (MSI-L). The frequencies of mutated microsatellite loci were 3/50 (6%) for BatT-25, 10/50 (20%) for Bat-26, 3/50 (6%) for Bat34C4, 6/50 (12%) for D2S123, 4/50 (8%) for D2S119, and 3/50 (6%) for D3S1611. The promoter regions of the hMLH1 and hMSH2 genes were unmethylated in NTD patients, as determined by methylation-specific PCR. The hMLH1 and hMSH2 promoter methylation patterns, the methylation levels of H19 DMR1, and IGF2 DMR0 were detected by bisulfite sequencing PCR, sub-cloning, and sequencing. The hMSH2 promoter sequence was unmethylated, and the hMLH1 promoter showed a specific methylation pattern at two CpG sites. The methylation levels of H19 DMR1 in the NTD and control groups are 73.3% ± 15.9 and 58.3% ± 11.2, respectively. The methylation level of the NTD group was higher than that of the control group (Student's t-test, P<0.05). There is no significant difference in IGF2 DMR0 methylation level between the two groups. All of the results presented here suggest that genomic instability, the MMR system, and hyper-methylation of the H19 DMR1 may be correlated with the occurrence of NTDs.
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