Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila

• DOI: 10.1371/journal.pone.0130974
• Publication Date: 2015-06-22T14:13:04Z
• Authors: Rebecca M. Borg; Rémy Bordonne; Neville Vassallo; Ruben J. Cauchi
• Keywords: snRNP

The SMN-Gemins complex is composed of Gemins 2–8, Unrip and the survival motor neuron (SMN) protein. Limiting levels SMN result in neuromuscular disorder, spinal muscular atrophy (SMA), which presently untreatable. most-documented function concerns assembly spliceosomal small nuclear ribonucleoproteins (snRNPs). Despite multiple genetic studies, Gemin proteins have not been identified as prominent modifiers SMN-associated mutant phenotypes. In present report, we make use Drosophila model organism to investigate whether viability phenotypes associated with a hypomorphic Gemin3 are enhanced by changes SMN, Gemin2 Gemin5 brought about various manipulations. We show modifier effect all three members minimalistic fly within muscle compartment unit. Interestingly, muscle-specific overexpression was itself sufficient depress normal its upregulation tissues leads decline viability. toxicity increased conserved yeast S. pombe find that cytoplasmic retention Sm proteins, likely reflecting block snRNP pathway, contributing factor. propose disruption stoichiometry depresses consequences detrimental system.