Reference Report

Reference
Citation	Shpargel, K.B., Praveen, K., Rajendra, T.K., Matera, A.G. (2009). Gemin3 is an essential gene required for larval motor function and pupation in Drosophila. Mol. Biol. Cell 20(1): 90--101. (Export to RIS)
FlyBase ID	FBrf0206864
Publication Type	Research paper
PubMed ID	18923150
PubMed Abstract	The assembly of metazoan Sm-class small nuclear ribonucleoproteins (snRNPs) is an elaborate, step-wise process that takes place in multiple subcellular compartments. The initial steps, including formation of the core RNP, are mediated by the survival motor neuron (SMN) protein complex. Loss-of-function mutations in human SMN1 result in a neuromuscular disease called spinal muscular atrophy. The SMN complex is comprised of SMN and a number of tightly associated proteins, collectively called Gemins. In this report, we identify and characterize the fruitfly ortholog of the DEAD box protein, Gemin3. Drosophila Gemin3 (dGem3) colocalizes and interacts with dSMN in vitro and in vivo. RNA interference for dGem3 codepletes dSMN and inhibits efficient Sm core assembly in vitro. Transposon insertion mutations in Gemin3 are larval lethals and also codeplete dSMN. Transgenic overexpression of dGem3 rescues lethality, but overexpression of dSMN does not, indicating that loss of dSMN is not the primary cause of death. Gemin3 mutant larvae exhibit motor defects similar to previously characterized Smn alleles. Remarkably, appreciable numbers of Gemin3 mutants (along with one previously undescribed Smn allele) survive as larvae for several weeks without pupating. Our results demonstrate the conservation of Gemin3 protein function in metazoan snRNP assembly and reveal that loss of either Smn or Gemin3 can contribute to neuromuscular dysfunction.
DOI	10.1091/mbc.E08-01-0024
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Language of Publication	English
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Publication Type	Journal
Abbreviation	Mol. Biol. Cell
Title	Molecular Biology of the Cell
Publication Year	1992-
ISBN/ISSN	1059-1524
Data from Reference
Aberrations (1)
	Df(3L)ED4457
Alleles (12)
	Gem3^B-rev Gem3^e03688 Gem3^rL562 Gem3^{Scer\UAS.T:Zzzz\FLAG} Scer\GAL4^da.G32 Smn^73Ao Smn^B Smn^f01109 Smn^f05960 Smn^PL00733 Smn^{Scer\UAS.T:Avic\GFP-YFP.Venus} w^+mC
Constructs (4)
	P{GAL4-da.G32} P{UAS-Gem3.FLAG} P{UASp-Smn.YFP} PBac{GAL4D,EYFP}
Genes (7)
	Gem3 me31B Rm62 Scer\GAL4 Smn T:Zzzz\FLAG w
Insertions (5)
	P{PZ}Gem3^rL562 PBac{?RB}Gem3^e03688 PBac{GAL4D,EYFP}Smn^PL00733 PBac{WH}Smn^f01109 PBac{WH}Smn^f05960
Natural transposons (1)
	P-element