Reference Report

Reference
Citation	Lotti, F., Imlach, W.L., Saieva, L., Beck, E.S., Hao, L.T., Li, D.K., Jiao, W., Mentis, G.Z., Beattie, C.E., McCabe, B.D., Pellizzoni, L. (2012). An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function. Cell 151(2): 440--454. (Export to RIS)
FlyBase ID	FBrf0219670
Publication Type	Research paper
PubMed ID	23063131
PubMed Abstract	Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the ubiquitous survival motor neuron (SMN) protein. To define the mechanisms of selective neuronal dysfunction in SMA, we investigated the role of SMN-dependent U12 splicing events in the regulation of motor circuit activity. We show that SMN deficiency perturbs splicing and decreases the expression of a subset of U12 intron-containing genes in mammalian cells and Drosophila larvae. Analysis of these SMN target genes identifies Stasimon as a protein required for motor circuit function. Restoration of Stasimon expression in the motor circuit corrects defects in neuromuscular junction transmission and muscle growth in Drosophila SMN mutants and aberrant motor neuron development in SMN-deficient zebrafish. These findings directly link defective splicing of critical neuronal genes induced by SMN deficiency to motor circuit dysfunction, establishing a molecular framework for the selective pathology of SMA.
DOI	10.1016/j.cell.2012.09.012
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Secondary IDs
Language of Publication	English
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Publication Type	Journal
Abbreviation	Cell
Title	Cell
Publication Year	1974-
ISBN/ISSN	0092-8674
Data from Reference
Alleles (17)
	CG11839^GD7401 CG16941^GD9241 CG33108^GD8651 Dcr-2^Scer\UAS.cDa Mgat1^GD2108 nmo^GD1495 Scer\GAL4^Cha.7.4 Scer\GAL4^elav-C155 Scer\GAL4^n-syb.PS Scer\GAL4^VGlut-OK371 Smn^73Ao Smn^X7 snRNA:U6atac:29B^k01105 stas^EY04008 stas^GD3415 stas^Scer\UAS.cLa Tsp97E^GD310
Constructs (11)
	P{Cha-GAL4.7.4} P{GD310} P{GD1495} P{GD2108} P{GD3415} P{GD7401} P{GD8651} P{GD9241} P{n-syb-GAL4.S} P{UAS-Dcr-2.D} P{UAS-stas.L}
Genes (17)
	Aats-his CG8545 CG11839 CG16941 CG33108 ClC-b Dcr-2 Mgat1 nmo Parp RpL32 Scer\GAL4 Smn snRNA:U6atac:29B stas Tsp97E Vps16A
Insertions (3)
	P{EPgy2}stas^EY04008 P{GawB}elav^C155 P{GawB}VGlut^OK371
Natural transposons (1)
	P-element