Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice

@article{Zhu2015NeuralTO,
  title={Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice},
  author={Min Zhu and Jiayi Tao and Matthew P. Vasievich and Wei-Jie Wei and Guojing Zhu and Rami N. Khoriaty and Bin Zhang},
  journal={Scientific Reports},
  year={2015},
  volume={5}
}
COPII (coat protein complex-II) vesicles transport proteins from the endoplasmic reticulum (ER) to the Golgi. Higher eukaryotes have two or more paralogs of most COPII components. Here we characterize mice deficient for SEC23A and studied interactions of Sec23a null allele with the previously reported Sec23b null allele. SEC23A deficiency leads to mid-embryonic lethality associated with defective development of extraembryonic membranes and neural tube opening in midbrain. Secretion defects of… 
Functions of the COPII gene paralogs SEC23A and SEC23B are interchangeable in vivo
TLDR
It is shown thatSEC23A and SEC23B overlap in function, and that the disparate phenotypes of SEC23A/SEC23B deficiency within and across species are likely due to evolutionary shifts in gene-expression programs, rather than distinct functions of the SEC23 paralogs.
The COPII cargo adapter SEC24C is essential for neuronal homeostasis
TLDR
The data suggest that SEC24C is a major cargo adapter for COPII-dependent transport in postmitotic neurons in developing and adult brains and that its functions overlap at least partially with those of SEC24D in mammals.
Mutations in the COPII Vesicle Genes and the Diseases they Lead to
TLDR
By understanding how COPII proteins function and which proteins they interact with, the authors can learn more about diseases caused by mutations in the genes and possibly find ways to cure or better manage these diseases.
Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum
TLDR
It is proposed that procollagen interacts with multiple SEC24 paralogs for efficient export from the ER, and that this is the basis for tissue-specific phenotypes resulting from SEC 24 paralog deficiency.
Consequences of mutations in the genes of the ER export machinery COPII in vertebrates
TLDR
This review underscores the other consequence of the ER export block, namely ER stress triggered by the accumulation of cargo proteins in the ER, which reflects the essentiality of the COPII machinery in the early stages of vertebrate development.
Murine SEC24D can substitute functionally for SEC24C during embryonic development
TLDR
Results suggest that tissue-specific and/or stage-specific expression of the Sec24c/d genes rather than differences in cargo export function explain the early embryonic requirements for SEC24C and SEC24D.
The Function of the COPII Gene Paralogs SEC23A and SEC23B Are Interchangeable In Vivo
TLDR
The data indicate that the disparate phenotypes of SEC23A and SEC23B deficiency likely result from evolutionary shifts in gene expression program rather than differences in protein function, a paradigm likely applicable to other sets of paralogous genes.
Dynamic Glycosylation Governs the Vertebrate COPII Protein Trafficking Pathway.
TLDR
It is demonstrated that site-specific O-GlcNAcylation of COPII proteins mediates their protein-protein interactions and modulates cargo secretion and is a conserved and critical regulatory modification in the vertebrate COPII-dependent trafficking pathway.
COPII-dependent ER export in animal cells: adaptation and control for diverse cargo
TLDR
The current understanding of COPII is reviewed and the current consensus on its role in packaging diverse cargo proteins is assessed, reported to be over 300 nm.
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References

SHOWING 1-10 OF 70 REFERENCES
SEC23B is required for the maintenance of murine professional secretory tissues
TLDR
It is reported that mice completely deficient for SEC23B are born with no apparent anemia phenotype, but die shortly after birth, with degeneration of professional secretory tissues inSEC23B-deficient embryos.
Mammalian COPII Coat Component SEC24C Is Required for Embryonic Development in Mice*
TLDR
SEC24C is required in early mammalian development but is dispensable in a number of tissues, likely as a result of compensation by other Sec24 paralogs, as demonstrated by the characterization of mice with deficiency in the fourth Sec 24 paralog, SEC24C.
Sec24D-Dependent Transport of Extracellular Matrix Proteins Is Required for Zebrafish Skeletal Morphogenesis
TLDR
It is shown that Sec24D is essential for secretion of cartilage matrix proteins, whereas the preceding development of craniofacial primordia and pre-chondrogenic condensations does not depend on this isoform.
Disruption of the Sec24d Gene Results in Early Embryonic Lethality in the Mouse
TLDR
The results demonstrate an absolute requirement for SEC24D expression in early mammalian development that is not compensated by the other three Sec24 paralogs, and suggest that the multiple Sec24Paralogs have developed distinct functions over the course of vertebrate evolution.
Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation
TLDR
Crusher provides the first vertebrate model system that links the biology of endoplasmic reticulum to Golgi trafficking with a clinically relevant dysmorphology and demonstrates that the paralogous gene sec23b is also an essential component of the ECM secretory pathway in chondrocytes.
SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion
The secretory pathway of eukaryotic cells packages cargo proteins into COPII-coated vesicles for transport from the endoplasmic reticulum (ER) to the Golgi. We now report that complete genetic
Planar cell polarity defects and defective Vangl2 trafficking in mutants for the COPII gene Sec24b
TLDR
A typical PCP phenotype in a mouse mutant for the Sec24b gene is reported, including the severe NTD craniorachischisis, abnormal arrangement of outflow tract vessels and disturbed development of the cochlea.
Efficient coupling of Sec23-Sec24 to Sec13-Sec31 drives COPII-dependent collagen secretion and is essential for normal craniofacial development
TLDR
Efficient coupling of the inner (Sec23/24) and outer (Sec13/31) layers of the COPII coat is required to drive the export of collagen from the endoplasmic reticulum, and that highly efficient COPII assembly is essential for normal craniofacial development during embryogenesis.
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
TLDR
The observations suggest that disrupted endoplasmic reticulum export of the secretory proteins required for normal morphogenesis accounts for CLSD.
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