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Hypomethylation of GRHL3 gene is associated with the occurrence of neural tube defects.

Epigenomics. 2018 Jul;10(7):891-901. doi:10.2217/epi-2018-0016. Epub 2018 Mar 28
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摘要


AIM:To investigate the relationship between GRHL3 methylation and the etiology of neural tube defects (NTDs). MATERIALS & METHODS:Analyze data from a genome-wide DNA methylation array. Targeted DNA methylation analysis was performed for 46 cases and 23 controls. At last, grhl3 overexpression and gene depletion experiments were conducted in zebrafish. RESULTS:Five hypomethylated CpGs were discovered in the methylation arrays performed on NTD cases. In a validation study, 15 hypomethylated CpGs were found and the overall methylation levels decreased in brain/spinal cord tissue from NTD cases. The knockdown and overexpression of grhl3 in zebrafish damaged embryonic convergent extension processes. CONCLUSION:Hypomethylation of GRHL3 in central nervous tissue is associated with NTDs, further supporting the importance of GRHL3 and methylation in proper neural tube closure.

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