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PMID:26921650

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Citation

Seytanoglu, A, Alsomali, NI, Valori, CF, McGown, A, Kim, HR, Ning, K, Ramesh, T, Sharrack, B, Wood, JD and Azzouz, M (2016) Deficiency in the mRNA export mediator Gle1 impairs Schwann cell development in the zebrafish embryo. Neuroscience 322:287-97

Abstract

GLE1 mutations cause lethal congenital contracture syndrome 1 (LCCS1), a severe autosomal recessive fetal motor neuron disease, and more recently have been associated with amyotrophic lateral sclerosis (ALS). The gene encodes a highly conserved protein with an essential role in mRNA export. The mechanism linking Gle1 function to motor neuron degeneration in humans has not been elucidated, but increasing evidence implicates abnormal RNA processing as a key event in the pathogenesis of several motor neuron diseases. Homozygous gle1(-/-) mutant zebrafish display various aspects of LCCS, showing severe developmental abnormalities including motor neuron arborization defects and embryonic lethality. A previous gene expression study on spinal cord from LCCS fetuses indicated that oligodendrocyte dysfunction may be an important factor in LCCS. We therefore set out to investigate the development of myelinating glia in gle1(-/-) mutant zebrafish embryos. While expression of myelin basic protein (mbp) in hindbrain oligodendrocytes appeared relatively normal, our studies revealed a prominent defect in Schwann cell precursor proliferation and differentiation in the posterior lateral line nerve. Other genes mutated in LCCS have important roles in Schwann cell development, thereby suggesting that Schwann cell deficits may be a common factor in LCCS pathogenesis. These findings illustrate the potential importance of glial cells such as myelinating Schwann cells in motor neuron diseases linked to RNA processing defects.

Links

PubMed Online version:10.1016/j.neuroscience.2016.02.039

Keywords

Animals; Animals, Genetically Modified; Arthrogryposis; Cell Differentiation/physiology; Cell Proliferation/physiology; Eye/embryology; Eye/pathology; Immunohistochemistry; In Situ Hybridization; In Situ Nick-End Labeling; Microscopy, Electron, Transmission; Motor Neurons/pathology; Motor Neurons/physiology; Myelin Basic Protein/metabolism; Neural Stem Cells/pathology; Neural Stem Cells/physiology; RNA-Binding Proteins/genetics; Rhombencephalon/embryology; Rhombencephalon/pathology; Schwann Cells/pathology; Schwann Cells/physiology; Survival Analysis; Zebrafish/embryology; Zebrafish Proteins/deficiency; Zebrafish Proteins/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

DANRE:GLE1

involved_in

GO:0014037: Schwann cell differentiation

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-GENO-160602-2

P

Seeded From UniProt

complete

DANRE:GLE1

involved_in

GO:0014010: Schwann cell proliferation

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-GENO-160602-2

P

Seeded From UniProt

complete

DANRE:GLE1

GO:0014044: Schwann cell development

ECO:0000315:

P

Fig. 4 Parts A, C, E and G shows defective Schwann cell development in mutants for Gle1 in comparison to Fig. 4 Parts B, D, F and H which consisted of wild type siblings. Both UniProt and the experiment refers to the gene as Gle1, and the organism is Danio rerio (Zebrafish).

complete
CACAO 12700

DANRE:GLE1

GO:1905046: positive regulation of Schwann cell proliferation involved in axon regeneration

ECO:0000315:

P

Fig. 6 Parts A-D shows the requirement of Gle1 for the formation of myelinating Schwann cells with comparison of mutant and wild type axons. Fig. 5 Parts A-B shows the requirement of Gle1 for proper proliferation of Schwann cell precursors, as the mutants showed reduced proliferation. Both the experiment and UniProt refer to the gene as Gle1. The organism is Danio rerio (Zebrafish).

complete
CACAO 12702

DANRE:GLE1

involved_in

GO:0016973: poly(A)+ mRNA export from nucleus

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-GENO-160602-2

P

Seeded From UniProt

complete

Notes

See also

References

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