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• W2167536144 abstract "In humans, GLE1 is mutated in lethal congenital contracture syndrome 1 (LCCS1) leading to prenatal death of all affected fetuses. Although the molecular roles of Gle1 in nuclear mRNA export and translation have been documented, no animal models for this disease have been reported. To elucidate the function of Gle1 in vertebrate development, we used the zebrafish (Danio rerio) model system. gle1 mRNA is maternally deposited and widely expressed. Altering Gle1 using an insertional mutant or antisense morpholinos results in multiple defects, including immobility, small eyes, diminished pharyngeal arches, curved body axis, edema, underdeveloped intestine and cell death in the central nervous system. These phenotypes parallel those observed in LCCS1 human fetuses. Gle1 depletion also results in reduction of motoneurons and aberrant arborization of motor axons. Unexpectedly, the motoneuron deficiency results from apoptosis of neural precursors, not of differentiated motoneurons. Mosaic analyses further indicate that Gle1 activity is required extrinsically in the environment for normal motor axon arborization. Importantly, the zebrafish phenotypes caused by Gle1 deficiency are only rescued by expressing wild-type human GLE1 and not by the disease-linked FinMajor mutant form of GLE1. Together, our studies provide the first functional characterization of Gle1 in vertebrate development and reveal its essential role in actively dividing cells. We propose that defective GLE1 function in human LCCS1 results in both neurogenic and non-neurogenic defects linked to the apoptosis of proliferative organ precursors." @default.
• W2167536144 created "2016-06-24" @default.
• W2167536144 creator A5017446481 @default.
• W2167536144 creator A5019217126 @default.
• W2167536144 creator A5030522283 @default.
• W2167536144 date "2012-04-01" @default.
• W2167536144 modified "2023-10-15" @default.
• W2167536144 title "A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization" @default.
• W2167536144 cites W1499260848 @default.
• W2167536144 cites W1543151032 @default.
• W2167536144 cites W1562967551 @default.
• W2167536144 cites W1618912177 @default.
• W2167536144 cites W1821398971 @default.
• W2167536144 cites W1917415069 @default.
• W2167536144 cites W1964580610 @default.
• W2167536144 cites W1964996586 @default.
• W2167536144 cites W1965179486 @default.
• W2167536144 cites W1968246860 @default.
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• W2167536144 cites W1975704366 @default.
• W2167536144 cites W1979895839 @default.
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• W2167536144 cites W2011383767 @default.
• W2167536144 cites W2012538868 @default.
• W2167536144 cites W2014448775 @default.
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• W2167536144 cites W2044010726 @default.
• W2167536144 cites W2045704444 @default.
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• W2167536144 cites W2053188090 @default.
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• W2167536144 doi "https://doi.org/10.1242/dev.074344" @default.
• W2167536144 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3294435" @default.
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• W2167536144 hasPublicationYear "2012" @default.
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