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Di Giorgio, M.L., Esposito, A., Maccallini, P., Micheli, E., Bavasso, F., Gallotta, I., Vernì, F., Feiguin, F., Cacchione, S., McCabe, B.D., Di Schiavi, E., Raffa, G.D. (2017). WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models.  Neurobiol. Disease 105(): 42--50.
FlyBase ID
FBrf0236151
Publication Type
Research paper
Abstract

SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death. Although SMN is required in every cell for proper RNA metabolism, the reason why its loss is especially critical in the motor system is still unclear. SMA genetic models have been employed to identify several modifiers that can ameliorate the deficits induced by SMN depletion. Here we focus on WDR79/TCAB1, a protein important for the biogenesis of several RNA species that has been shown to physically interact with SMN in human cells. We show that WDR79 depletion results in locomotion defects in both Drosophila and Caenorhabditis elegans similar to those elicited by SMN depletion. Consistent with this observation, we find that SMN overexpression rescues the WDR79 loss-of-function phenotype in flies. Most importantly, we also found that WDR79 overexpression ameliorates the locomotion defects induced by SMN depletion in both flies and worms. Our results collectively suggest that WDR79 and SMN play evolutionarily conserved cooperative functions in the nervous system and suggest that WDR79/TCAB1 may have the potential to modify SMA pathogenesis.

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    Language of Publication
    English
    Additional Languages of Abstract
    Parent Publication
    Publication Type
    Journal
    Abbreviation
    Neurobiol. Disease
    Title
    Neurobiology of Disease
    Publication Year
    1994-
    ISBN/ISSN
    0969-9961
    Data From Reference
    Aberrations (1)
    Alleles (10)
    Genes (3)
    Human Disease Models (2)
    Natural transposons (2)
    Experimental Tools (3)
    Transgenic Constructs (8)