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Gene
Article . 2012 . Peer-reviewed
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Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns: Implications for spinal muscular atrophy

Authors: Mier, Pablo; Pérez-Pulido, Antonio J.;

Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns: Implications for spinal muscular atrophy

Abstract

Spinal muscular atrophy is an important rare genetic disease characterized by the loss of motor neurons, where the main gene responsible is smn1. Orthologous genes have only been characterized in a single fungal genome: Schizosaccharomyces pombe. We have searched for putative SMN orthologues in publically available fungal genomes, finding that they are predominately present in filamentous fungi. SMN binding partners and the SPF30 SMN paralogue, which are all involved in mRNA splicing, were found to be present in a similar but non-identical subset of fungal genomes. The Saccharomycces cerevisiae yeast genome contains neither smn1 orthologues nor paralogues and it has been suggested that this might be related to the low number of introns in this yeast. Here we have tested this hypothesis by looking at other fungal genomes. Significantly, we find that fungal genomes with high numbers of introns also possess an SMN orthologue or at least its paralogue, SPF30.

Keywords

Fungi, Spf30, SMN Complex Proteins, Spinal muscular atrophy, Introns, Smn, Phylogenetics, Muscular Atrophy, Spinal, Humans, RNA Splicing Factors, Genome, Fungal, Sequence Alignment, Phylogeny

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selected citations
These citations are derived from selected sources.
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!
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