Hypomethylation of GRHL3 Gene is Associated with the Occurrence of Neural Tube Defects

References

• Copp AJ , StanierP , GreeneND . Neural tube defects: recent advances, unsolved questions and controversies . Lancet Neurol.12 ( 8 ), 799 – 810 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Harris MJ , JuriloffDM . Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects . Birth Defects Res. Part A Clin. Mol. Teratol.79 ( 3 ), 187 – 210 ( 2007 ).
   PubMedGoogle Scholar
• Wilde JJ , PetersenJR , NiswanderL . Genetic, epigenetic and environmental contributions to neural tube closure . Annu. Rev. Genet.48 , 583 – 611 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Yan L , ZhaoL , LongYet al. Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case–control studies . PLoS ONE7 ( 10 ), e41689 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Fox JT , StoverPJ . Folate-mediated one-carbon metabolism . Vitam. Horm.79 , 1 – 44 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Rochtus A , JansenK , Van GeetC , FresonK . Nutri-epigenomic studies related to neural tube defects: does folate affect neural tube closure via changes in DNA methylation?Mini Rev. Med. Chem.15 ( 13 ), 1095 – 1102 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Blom HJ . Folic acid, methylation and neural tube closure in humans . Birth Defects Res. Part A Clin. Mol. Teratol.85 ( 4 ), 295 – 302 ( 2009 ).
   PubMedGoogle Scholar
• Friso S , ChoiSW , GirelliDet al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status . Proc. Natl Acad. Sci. USA99 ( 8 ), 5606 – 5611 ( 2002 ).
   PubMed Web of Science ®Google Scholar
• Lalouschek W , AullS , SerlesWet al. The relation between erythrocyte volume and folate levels is influenced by a common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) . J. Investig. Med.48 ( 1 ), 14 – 20 ( 2000 ).
   PubMed Web of Science ®Google Scholar
• Wang L , LinS , ZhangJ , TianT , JinL , RenA . Fetal DNA hypermethylation in tight junction pathway is associated with neural tube defects: a genome-wide DNA methylation analysis . Epigenetics12 ( 2 ), 157 – 165 ( 2017 ).
   PubMed Web of Science ®Google Scholar
• Wu L , WangL , ShangguanSet al. Altered methylation of IGF2 DMR0 is associated with neural tube defects . Mol. Cell Biochem.380 ( 1–2 ), 33 – 42 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Bai B , ZhangQ , LiuXet al. Different epigenetic alterations are associated with abnormal IGF2/Igf2 upregulation in neural tube defects . PLoS ONE9 ( 11 ), e113308 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Wang L , WangF , GuanJet al. Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects . Am. J. Clin. Nutr.91 ( 5 ), 1359 – 1367 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Liu Z , WangZ , LiYet al. Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects . Eur. J. Hum. Genet.20 ( 5 ), 516 – 520 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Farkas SA , BottigerAK , IsakssonHS , FinnellRH , RenA , NilssonTK . Epigenetic alterations in folate transport genes in placental tissue from fetuses with neural tube defects and in leukocytes from subjects with hyperhomocysteinemia . Epigenetics8 ( 3 ), 303 – 316 ( 2013 ).
   PubMed Web of Science ®Google Scholar
• Rochtus A , IzziB , VangeelEet al. DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects . Epigenetics10 ( 1 ), 92 – 101 ( 2015 ).
   PubMed Web of Science ®Google Scholar
• Juriloff DM , HarrisMJ . A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects . Birth Defects Res. Part A Clin. Mol. Teratol.94 ( 10 ), 824 – 840 ( 2012 ).
   PubMedGoogle Scholar
• Harris MJ , JuriloffDM . An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure . Birth Defects Res. Part A Clin. Mol. Teratol.88 ( 8 ), 653 – 669 ( 2010 ).
   PubMed Web of Science ®Google Scholar
• Shangguan S , WangL , ChangSet al. DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects . Birth Defects Res. Part A Clin. Mol. Teratol.103 ( 1 ), 37 – 44 ( 2015 ).
   PubMedGoogle Scholar
• Ting SB , WilanowskiT , CerrutiL , ZhaoLL , CunninghamJM , JaneSM . The identification and characterization of human sister-of-mammalian grainyhead (SOM) expands the grainyhead-like family of developmental transcription factors . Biochem. J.370 , 953 – 962 ( 2003 ).
   PubMed Web of Science ®Google Scholar
• Ting SB , WilanowskiT , AudenAet al. Inositol- and folate-resistant neural tube defects in mice lacking the epithelial-specific factor Grhl-3 . Nat. Med.9 ( 12 ), 1513 – 1519 ( 2003 ).
   PubMed Web of Science ®Google Scholar
• Gustavsson P , CoppAJ , GreeneND . Grainyhead genes and mammalian neural tube closure . Birth Defects Res. Part A Clin. Mol. Teratol.82 , 728 – 735 ( 2008 ).
   PubMedGoogle Scholar
• De Castro SC , HirstCS , SaveryDet al. Neural tube closure depends on expression of Grainyhead-like 3 in multiple tissues . Dev. Biol.435 ( 2 ), 130 – 137 ( 2018 ).
   PubMed Web of Science ®Google Scholar
• Lemay P , MarcoPD , EmondAet al. Rare deleterious variants in GRHL3 are associated with human spina bifida . Hum. Mutat.38 ( 6 ), 716 – 724 ( 2018 ).
   Web of Science ®Google Scholar
• Liu J , ZhangL , LiZet al. Prevalence and trend of neural tube defects in five counties in Shanxi province of Northern China, 2000 to 2014 . Birth Defects Res. Part A Clin. Mol. Teratol.106 ( 4 ), 267 – 274 ( 2016 ).
   PubMedGoogle Scholar
• Dworkin S , SimkinJ , DaridoCet al. Grainyhead-like 3 regulation of endothelin-1 in the pharyngeal endoderm is critical for growth and development of the craniofacial skeleton . Mech. Dev.133 , 77 – 90 ( 2014 ).
   PubMed Web of Science ®Google Scholar
• Jaenisch R , BirdA . Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals . Nat. Genet.33 , 245 – 254 ( 2003 ).
   PubMed Web of Science ®Google Scholar
• Panning B , JaenischR . DNA hypomethylation can activate Xist expression and silence X-linked genes . Genes Dev.10 ( 16 ), 1991 – 2002 ( 1996 ).
   PubMed Web of Science ®Google Scholar
• Jones PA . Functions of DNA methylation: islands, start sites, gene bodies and beyond . Nat. Rev. Genet.13 ( 7 ), 484 – 492 ( 2012 ).
   PubMed Web of Science ®Google Scholar
• Farthing CR , FiczG , NgRKet al. Global mapping of DNA methylation in mouse promoters reveals epigenetic reprogramming of pluripotency genes . PLoS Genet.4 ( 6 ), e1000116 ( 2008 ).
   PubMed Web of Science ®Google Scholar
• Takai D , JonesPA . Comprehensive analysis of CpG islands in human chromosomes 21 and 22 . Proc. Natl Acad. Sci. USA99 ( 6 ), 3740 – 3745 ( 2002 ).
   PubMed Web of Science ®Google Scholar
• Rochtus A , WinandR , LaenenGet al. Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development . Clin. Epigenetics108 ( 8 ), 4 – 12 ( 2016 ).
   Google Scholar