The embryonic development of mammalian neural tube defects

Copp, Andrew J.; Brook, Frances A.; Estibeiro, J. P.; Shum, Alisa S.W.; Cockroft, D. L.

doi:10.1016/0301-0082(90)90037-h

Cited by 307 publications

(173 citation statements)

References 212 publications

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“…In humans (Copp et al, 1990(Copp et al, , 2003 and some mouse mutants (Sah et al, 1995), neural tube defects (NTDs) are more prevalent in females than in males. To determine whether the incomplete penetrance of the neural tube phenotype in Gcn5 flox(neo)/⌬ embryos was related to sex, we determined the sex of 25 E9.5-E18.5 Gcn5 flox(neo)/⌬ embryos with NTDs.…”

Section: Neural Tube Closure Is Defective In Gcn5 Flox(neo)/⌬ Embryosmentioning

confidence: 99%

Proper expression of the Gcn5 histone acetyltransferase is required for neural tube closure in mouse embryos

Lin

Zhang

Srajer

et al. 2008

Developmental Dynamics

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Histone acetyltransferases (HATs) are important to gene activation, altering chromatin structures to facilitate association of transcription proteins with gene promoters. The functions of individual HATs in mammalian developmental are not well defined. Our previous studies demonstrated that Gcn5, a prototypical HAT, is required for mesodermal maintenance in early embryos. Homozygous Gcn5 null embryos die soon after gastrulation, preventing determination of Gcn5 functions later during development. We report here the creation of a Gcn5 flox(neo) allele, which is only partially functional and gives rise to a hypomorphic phenotype. Mice homozygous for this allele had an increased risk of cranial neural tube closure defects (NTDs) and exencephaly. These defects were found at an even greater penetrance in

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Section: Neural Tube Closure Is Defective In Gcn5 Flox(neo)/⌬ Embryosmentioning

confidence: 99%

Proper expression of the Gcn5 histone acetyltransferase is required for neural tube closure in mouse embryos

Lin

Zhang

Srajer

et al. 2008

Developmental Dynamics

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“…Neural tube defects (NTDs) are considered to be multifactorial in origin, ie a combination of genetic and nutritional factors. 1 Periconceptional folate administration reduces both the occurrence and recurrence risk of NTDs by 70-100%. 2,3 In our previous studies elevated plasma homocysteine concentrations in combination with slightly lowered plasma folate levels were observed in mothers with a NTD child.…”

Section: Introductionmentioning

confidence: 99%

Molecular genetic analysis of human folate receptors in neural tube defects

et al. 1999

Eur J Hum Genet

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Neural tube defects (NTDs) are the most common congenital malformations and are considered to have a multifactorial origin, having both genetic and environmental components. Periconceptional folate administration reduces the recurrence and occurrence risk by 70-100%. Recently we discovered the first genetic risk factors for NTDs: the 677 C→T and the 1298 A→C mutations in the methylenetetrahydrofolate reductase gene explaining at the most 35-50% of the protective effect of folate. In this study we further explored the genetic component of NTDs by analysing the coding region, including the intron-exon boundaries and signal sequences of the folate receptor genes by SSCP analysis. Among 39 patients with spina bifida (SB), 47 mothers with a child with SB, and 10 controls, no polymorphism was present in the folate receptor alpha (FR-α) gene or in the folate receptor beta (FR-) gene.

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“…50 Although these all suggest a number of potential mechanisms whereby NTDs might arise, the cause of human malformations remains unknown. Neural tube defects are most likely heterogeneous in origin 8,10,11,17 and represent the end result of a various embryonic disorders.What is clear, however, is that NTDs represent the intricate interactions between complex genetic and environmental factors. Many lines of evidence point to a genetic component for NTDs.…”

mentioning

confidence: 99%

“…17 Because early neural embryogenesis in general, and neurulation in particular involve a complex interplay of multiple cellular processes, tissue morphogenesis, and the timely expression of multiple transcription and cell signaling factors, it is not surprising that NTDs may result from a number of embryonic insults. Neural tube defects have been produced experimentally using a number of teratogens, 8 genetic mutations, 10,11,31 and experimental manipulations. 50 Although these all suggest a number of potential mechanisms whereby NTDs might arise, the cause of human malformations remains unknown.…”

mentioning

confidence: 99%

“…10,11,31 To date, more than 60 genetic mouse mutants with NTDs have been identified. 31 These mutations code for a bewildering variety of molecular species including various transcription factors and coactivators, signal transducers, folate binding proteins, tumor suppressor gene products, cytoskeletal components, DNA methyltransferases, nuclear and cell membrane receptors, chromosomal proteins, gap junction proteins, cell surface receptors, and actin regulators and binding proteins.…”

mentioning

confidence: 99%

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Embryology of myelomeningocele and anencephaly

Dias

Partington

2004

FOC

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The authors review current views on of the embryogenesis of the neural tube defects (NTDs) myelomeningocele and anencephaly. In this context, the following four approaches to the study of NTDs are discussed: normal morphogenesis and timing of early human neural development from conception to the ascent of the conus medullaris; mechanical and molecular biology of neural tube closure derived from experimental and animal models; morphological and biomechanical features of the NTDs myelomeningocele and anencephaly; and the experimental evidence for the importance of both genetic and environmental influences on human NTDs. Although considerable insight into both normal neural tube closure and the factor(s) by which this process may be disrupted has been reported in recent years, the exact mechanism(s) by which human myelomeningoceles and anencephaly arise remain elusive.

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The embryonic development of mammalian neural tube defects

Cited by 307 publications

References 212 publications

Proper expression of the Gcn5 histone acetyltransferase is required for neural tube closure in mouse embryos

Proper expression of the Gcn5 histone acetyltransferase is required for neural tube closure in mouse embryos

Molecular genetic analysis of human folate receptors in neural tube defects

Embryology of myelomeningocele and anencephaly

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