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Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects

Authors: Dimitriadi, Maria; Sleigh, James N.; Chang, Howard C.; Kalloo, Geetika; Harris, Jevede; Barsby, Tom; Walsh, Melissa B.; +7 Authors

Conserved Genes Act as Modifiers of Invertebrate SMN Loss of Function Defects

Abstract

Spinal Muscular Atrophy (SMA) is caused by diminished function of the Survival of Motor Neuron (SMN) protein, but the molecular pathways critical for SMA pathology remain elusive. We have used genetic approaches in invertebrate models to identify conserved SMN loss of function modifier genes. Drosophila melanogaster and Caenorhabditis elegans each have a single gene encoding a protein orthologous to human SMN; diminished function of these invertebrate genes causes lethality and neuromuscular defects. To find genes that modulate SMN function defects across species, two approaches were used. First, a genome-wide RNAi screen for C. elegans SMN modifier genes was undertaken, yielding four genes. Second, we tested the conservation of modifier gene function across species; genes identified in one invertebrate model were tested for function in the other invertebrate model. Drosophila orthologs of two genes, which were identified originally in C. elegans, modified Drosophila SMN loss of function defects. C. elegans orthologs of twelve genes, which were originally identified in a previous Drosophila screen, modified C. elegans SMN loss of function defects. Bioinformatic analysis of the conserved, cross-species, modifier genes suggests that conserved cellular pathways, specifically endocytosis and mRNA regulation, act as critical genetic modifiers of SMN loss of function defects across species.

Keywords

Male, 570, neurological disorders, Genome, Insect, 590, neuromuscular diseases, QH426-470, Evolution, Molecular, Muscular Atrophy, Spinal, neurobiology of disease and regeneration, Genetics, Animals, Drosophila Proteins, Humans, neurogenetics, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Analysis of Variance, Genome, Helminth, Pupa, SMN Complex Proteins, genetics of disease, genetics and genomics, Invertebrates, spinal disorders, Drosophila melanogaster, Mutation, Female, RNA Interference, Research Article, Genome-Wide Association Study

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    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 10%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
88
Top 10%
Top 10%
Top 10%
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