Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/88354
Title: | Splicing defects of the profilin gene alter actin dynamics in an S. pombe SMN mutant |
Authors: | Antoine, Marie Patrick, Kristin L. Soret, Johann Duc, Pauline Rage, Florence Cacciottolo, Rebecca Nissen, Kelly E. Cauchi, Ruben J. Krogan, Nevan J. Guthrie, Christine Gachet, Yannick Bordonné, Rémy |
Keywords: | Life sciences Cytology Molecular biology Molecular genetics |
Issue Date: | 2019 |
Publisher: | Elsevier Inc. |
Citation: | Antoine, M., Patrick, K. L., Soret, J., Duc, P., Rage, F., Cacciottolo, R., ... & Bordonné, R. (2020). Splicing defects of the profilin gene alter actin dynamics in an S. pombe SMN mutant. Iscience, 23(1), 100809. |
Abstract: | Spinal muscular atrophy (SMA) is a devastating motor neuron disorder caused by mutations in the survival motor neuron (SMN) gene. It remains unclear how SMN deficiency leads to the loss of motor neurons. By screening Schizosaccharomyces pombe, we found that the growth defect of an SMN mutant can be alleviated by deletion of the actin-capping protein subunit gene acp1+. We show that SMN mutated cells have splicing defects in the profilin gene, which thus directly hinder actin cytoskeleton homeostasis including endocytosis and cytokinesis. We conclude that deletion of acp1+ in an SMN mutant background compensates for actin cytoskeleton alterations by restoring redistribution of actin monomers between different types of cellular actin networks. Our data reveal a direct correlation between an impaired function of SMN in snRNP assembly and defects in actin dynamics. They also point to important common features in the pathogenic mechanism of SMA and ALS. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/88354 |
Appears in Collections: | Scholarly Works - FacM&SPB |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
Splicing_defects_of_the_profilin_gene_alter_actin_dynamics_in_an_S_pombe_SMN_mutant.pdf | 1.89 MB | Adobe PDF | View/Open |
Items in OAR@UM are protected by copyright, with all rights reserved, unless otherwise indicated.