SNPs in the CpG island of <i>NAP1L2</i>: A possible link between DNA methylation and neural tube defects?

Rogner, Ute Christine; Danoy, Patrick; Matsuda, Fumihiko; Moore, Gudrun E.; Stanier, Philip; Avner, Philip

doi:10.1002/ajmg.10453

Cited by 12 publications

(4 citation statements)

References 35 publications

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“…When the parents' DNA was studied also, no variations were found to be passed from parent to child with the positively transmitted allele. 8,15,[18][19][20] The role of environmental factors is confirmed by the effectiveness of dietary folic acid supplementation before and during pregnancy in preventing open defects. 4 Nevertheless, McNeely and Howes 12 report that this supplementation does not reduce the number of closed defects, suggesting that primary and secondary neurulation could be independent processes from a genetic point of view.…”

Section: Discussionmentioning

confidence: 99%

Spina bifida occulta and monozygotic twins

Spacca¹,

Buxton²

2008

PED

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Central nervous system maldevelopment can have different presentations in twins. We report on a case of different presentations of spina bifida occulta in monozygotic twins. The first twin presented at birth with a lipomyelomeningocele; a tethered cord was diagnosed in the second twin at 2 years of age. Neural tube defects (NTDs) are a group of common congenital malformations of the brain and spine generated during neurulation. The genetic basis of this process is still not well known. Whenever an NTD is diagnosed in one of a pair of twins, the other twin should also be evaluated for NTDs.

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Section: Discussionmentioning

confidence: 99%

Spina bifida occulta and monozygotic twins

Spacca¹,

Buxton²

2008

PED

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“…Several studies document that incorrect DNA methylation patterns can result in neural tube defects (Kakutani et al, 1996; Prater et al, 2006; Rogner et al, 2002; van der Put et al, 1995). The importance of the DNA methyltransferases in morphogenesis of the neural tube is illustrated by the fact that Dnmt3b −/− embryos display multiple developmental defects including growth impairment and rostral neural tube defects (Okano et al, 1999).…”

Section: Discussionmentioning

confidence: 99%

MicroRNA gene expression signatures in the developing neural tube

Mukhopadhyay¹,

Brock²,

Appana³

et al. 2011

Birth Defects Research

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BACKGROUND Neurulation requires precise, spatio-temporal expression of numerous genes and coordinated interaction of signal transduction and gene regulatory networks, disruption of which may contribute to the etiology of neural tube (NT) defects. MicroRNAs are key modulators of cell and tissue differentiation. In order to define potential roles of miRNAs in development of the murine NT, miRNA microarray analysis was conducted to establish expression profiles, and identify miRNA target genes and functional gene networks. METHODS miRNA expression profiles in murine embryonic NTs derived from gestational days 8.5, 9.0 and 9.5 were defined and compared utilizing miRXplore™ microarrays from Miltenyi Biotech GmbH. Gene expression changes were verified by TaqMan™ quantitative Real-Time PCR. clValid R package and the UPGMA (hierarchical) clustering method were utilized for cluster analysis of the microarray data. Functional associations among selected miRNAs were examined via Ingenuity Pathway Analysis. RESULTS miRXplore™ chips enabled examination of 609 murine miRNAs. Expression of approximately 12% of these was detected in murine embryonic NTs. Clustering analysis revealed several developmentally regulated expression clusters among these expressed genes. Target analysis of differentially expressed miRNAs enabled identification of numerous target genes associated with cellular processes essential for normal NT development. Utilization of Ingenuity Pathway Analysis revealed interactive biological networks which connected differentially expressed miRNAs with their target genes, and highlighted functional relationships. CONCLUSIONS The present study defined unique gene expression signatures of a range of miRNAs in the developing NT during the critical period of NT morphogenesis. Analysis of miRNA target genes and gene interaction pathways revealed that specific miRNAs may direct expression of numerous genes encoding proteins which have been shown to be indispensable for normal neurulation. This study is the first to identify miRNA expression profiles and their potential regulatory networks in the developing mammalian NT.

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“…A histone chaperone required for proper cell cycle regulation of developing neuronal cells A number of SNPs identified in the 5# CpG island with no evidence for association (130)…”

Section: Candidate Genes From Animal Studiesmentioning

confidence: 99%

Toward understanding the genetic basis of neural tube defects

2007

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Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving environmental and genetic factors and their underlying molecular and cellular pathogenic mechanisms remain poorly understood. Animal studies have recently demonstrated an essential role for the planar cell polarity pathway (PCP) in mediating a morphogenetic process called convergent extension during neural tube formation. Alterations in members of this pathway lead to NTDs in vertebrate models, representing novel and exciting candidates for human NTDs. Genetic studies in NTDs have focused mainly on folate-related genes based on the finding that perinatal folic acid supplementation reduces the risk of NTDs by 60-70%. A few variants in these genes have been found to be significantly associated with an increased risk for NTDs. The candidate gene approach investigating genes involved in neurulation has failed to identify major causative genes in the etiology of NTDs. Despite this history of generally negative findings, we are achieving a rapid and impressive progress in understanding the genetic basis of NTDs, based mainly on the powerful tool of animal models.

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SNPs in the CpG island of NAP1L2: A possible link between DNA methylation and neural tube defects?

Cited by 12 publications

References 35 publications

Spina bifida occulta and monozygotic twins

Spina bifida occulta and monozygotic twins

MicroRNA gene expression signatures in the developing neural tube

Toward understanding the genetic basis of neural tube defects

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