Genetically determined absence of an initiation site of cranial neural tube closure is causally related to exencephaly in SELH/Bc mouse embryos

Teratology ◽  
1995 ◽  
Vol 52 (2) ◽  
pp. 101-108 ◽  
Author(s):  
T. M. Gunn ◽  
D. M. Juriloff ◽  
M. J. Harris
Author(s):  
Gabriel L. Galea ◽  
Young-June Cho ◽  
Gauden Galea ◽  
Matteo A. Molè ◽  
Ana Rolo ◽  
...  

2018 ◽  
Vol 149 ◽  
pp. 20-26 ◽  
Author(s):  
Amy Hughes ◽  
Nicholas D.E. Greene ◽  
Andrew J. Copp ◽  
Gabriel L. Galea

2020 ◽  
Author(s):  
Alexandra Walton ◽  
Diego Revinski ◽  
Arnauld Sergé ◽  
Stéphane Audebert ◽  
Luc Camoin ◽  
...  

AbstractFirst described in Drosophila melanogaster, planar cell polarity (PCP) is a developmental process essential for embryogenesis and development of polarized structures in Metazoans. This signaling pathway involves a set of evolutionarily conserved genes encoding transmembrane (Vangl, Frizzled, Celsr) and cytoplasmic (Prickle, Dishevelled) molecules. Vangl2 is of major importance in embryonic development as illustrated by its pivotal role during neural tube closure in human, mouse, Xenopus and zebrafish embryos. The regulated and poorly understood traffic of Vangl2 to the plasma membrane is a key event for its function in development. Here we report on the molecular and functional characterization of a novel 569-amino acid N-terminally extended Vangl2 isoform, Vangl2-Long, that arises from an alternative non-AUG translation initiation site, lying 144 base pair upstream of the conventional start codon. While missing in Vangl1 paralogs and in all invertebrates, including Drosophila melanogaster, this N-terminal extension is conserved in all vertebrate Vangl2 sequences and confers a subcellular localization in the Golgi apparatus, probably as a result of an extended retention time in this organelle. Vangl2-Long belongs to a multimeric complex with Vangl1 and Vangl2 and we show that its down-regulation leads to severe PCP-related phenotypes in Xenopus embryos, including shorter body axis and neural tube closure defects. Altogether, our study unveils a novel level of complexity in Vangl2 expression, trafficking and function.


Development ◽  
1991 ◽  
Vol 113 (2) ◽  
pp. 671-678 ◽  
Author(s):  
F.A. Brook ◽  
A.S. Shum ◽  
H.W. Van Straaten ◽  
A.J. Copp

Delayed closure of the posterior neuropore (PNP) occurs to a variable extent in homozygous mutant curly tail (ct) mouse embryos, and results in the development of spinal neural tube defects (NTD) in 60% of embryos. Previous studies have suggested that curvature of the body axis may delay neural tube closure in the cranial region of the mouse embryo. In order to investigate the relationship between curvature and delayed PNP closure, we measured the extent of ventral curvature of the neuropore region in ct/ct embryos with normal or delayed PNP closure. The results show significantly greater curvature in ct/ct embryos with delayed PNP closure in vivo than in their normal littermates. Reopening of the posterior neuropore in non-mutant mouse embryos, to delay neuropore closure experimentally, did not increase ventral curvature, suggesting that increased curvature in ct/ct embryos is not likely to be a secondary effect of delayed PNP closure. Experimental prevention of ventral curvature in ct/ct embryos, brought about by implantation of an eyelash tip longitudinally into the hindgut lumen, ameliorated the delay in PNP closure. We propose, therefore, that increased ventral curvature of the neuropore region of ct/ct embryos imposes a mechanical stress, which opposes neurulation and thus delays closure of the PNP. Increased ventral curvature may arise as a result of a cell proliferation imbalance, which we demonstrated previously in affected ct/ct embryos.


1997 ◽  
Vol 195 (3) ◽  
pp. 259-266 ◽  
Author(s):  
M. C. E. Peeters ◽  
Johan W. M. Hekking ◽  
Tryfon Vainas ◽  
J. Drukker ◽  
Henny W. M. van Straaten

2008 ◽  
Vol 237 (4) ◽  
pp. 928-940 ◽  
Author(s):  
Wenchu Lin ◽  
Zhijing Zhang ◽  
Geraldine Srajer ◽  
Yi Chun Chen ◽  
Maosheng Huang ◽  
...  

FEBS Letters ◽  
2006 ◽  
Vol 580 (11) ◽  
pp. 2803-2807 ◽  
Author(s):  
Louisa P.E. Dunlevy ◽  
Katie A. Burren ◽  
Lyn S. Chitty ◽  
Andrew J. Copp ◽  
Nicholas D.E. Greene

2010 ◽  
Vol 30 (2) ◽  
pp. 284-291 ◽  
Author(s):  
Joshua F. Robinson ◽  
William C. Griffith ◽  
Xiaozhong Yu ◽  
Sungwoo Hong ◽  
Euvin Kim ◽  
...  

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