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Review

Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies

Department of Medical Genetics, University of British Columbia, 2350 Health Sciences Mall, Vancouver, BC V6T 1Z3, Canada
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J. Dev. Biol. 2018, 6(3), 22; https://doi.org/10.3390/jdb6030022
Received: 15 July 2018 / Revised: 13 August 2018 / Accepted: 15 August 2018 / Published: 21 August 2018
(This article belongs to the Special Issue Development of the Brain in Health and Disease)
The human neural tube defects (NTD), anencephaly, spina bifida and craniorachischisis, originate from a failure of the embryonic neural tube to close. Human NTD are relatively common and both complex and heterogeneous in genetic origin, but the genetic variants and developmental mechanisms are largely unknown. Here we review the numerous studies, mainly in mice, of normal neural tube closure, the mechanisms of failure caused by specific gene mutations, and the evolution of the vertebrate cranial neural tube and its genetic processes, seeking insights into the etiology of human NTD. We find evidence of many regions along the anterior–posterior axis each differing in some aspect of neural tube closure—morphology, cell behavior, specific genes required—and conclude that the etiology of NTD is likely to be partly specific to the anterior–posterior location of the defect and also genetically heterogeneous. We revisit the hypotheses explaining the excess of females among cranial NTD cases in mice and humans and new developments in understanding the role of the folate pathway in NTD. Finally, we demonstrate that evidence from mouse mutants strongly supports the search for digenic or oligogenic etiology in human NTD of all types. View Full-Text
Keywords: neural tube; neural folds; anencephaly; exencephaly; spina bifida; craniorachischisis; folate; epigenetics; developmental genetics neural tube; neural folds; anencephaly; exencephaly; spina bifida; craniorachischisis; folate; epigenetics; developmental genetics
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MDPI and ACS Style

Juriloff, D.M.; Harris, M.J. Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies. J. Dev. Biol. 2018, 6, 22. https://doi.org/10.3390/jdb6030022

AMA Style

Juriloff DM, Harris MJ. Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies. Journal of Developmental Biology. 2018; 6(3):22. https://doi.org/10.3390/jdb6030022

Chicago/Turabian Style

Juriloff, Diana M., and Muriel J. Harris 2018. "Insights into the Etiology of Mammalian Neural Tube Closure Defects from Developmental, Genetic and Evolutionary Studies" Journal of Developmental Biology 6, no. 3: 22. https://doi.org/10.3390/jdb6030022

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