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PMID:19023405

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Citation

Cauchi, RJ, Davies, KE and Liu, JL (2008) A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila. PLoS Genet. 4:e1000265

Abstract

The survival motor neuron (SMN) protein, the determining factor for spinal muscular atrophy (SMA), is complexed with a group of proteins in human cells. Gemin3 is the only RNA helicase in the SMN complex. Here, we report the identification of Drosophila melanogaster Gemin3 and investigate its function in vivo. Like in vertebrates, Gemin3 physically interacts with SMN in Drosophila. Loss of function of gemin3 results in lethality at larval and/or prepupal stages. Before they die, gemin3 mutant larvae exhibit declined mobility and expanded neuromuscular junctions. Expression of a dominant-negative transgene and knockdown of Gemin3 in mesoderm cause lethality. A less severe Gemin3 disruption in developing muscles leads to flightless adults and flight muscle degeneration. Our findings suggest that Drosophila Gemin3 is required for larval development and motor function.

Links

PubMed PMC2577925 Online version:10.1371/journal.pgen.1000265

Keywords

Animals; DEAD Box Protein 20/genetics; DEAD Box Protein 20/physiology; DEAD-box RNA Helicases/genetics; DEAD-box RNA Helicases/physiology; Drosophila Proteins; Drosophila melanogaster/embryology; Drosophila melanogaster/enzymology; Drosophila melanogaster/genetics; Humans; Larva/metabolism; Mice; Motor Neurons/enzymology; Mutation; Survival of Motor Neuron 1 Protein/metabolism; Transgenes

Significance

Annotations

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

DROME:Q9V3C4

involved_in

GO:0007528: neuromuscular junction development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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