Publications by authors named "Virginia Busetto"
Article Synopsis
- - The MUT-7 family of exoribonucleases is important for small RNA production in animals and has a conserved domain called MUT7-C, which has unknown functions.
- - Research indicates that MUT7-C is ancient and even exists in prokaryotes, but has evolved in animals to acquire new functions, particularly in binding with other proteins.
- - In the model organism C. elegans, the MUT7-C domain is essential for binding RNA and recruiting MUT-7 to germ granules, highlighting its role in ribonuclease activity and indicating that these functions likely originated early in evolution.
Human CWC27 is an uncharacterized splicing factor and mutations in its gene are linked to retinal degeneration and other developmental defects. We identify the splicing factor CWC22 as the major CWC27 partner. Both CWC27 and CWC22 are present in published Bact spliceosome structures, but no interacting domains are visible.
View Article and Find Full Text PDFPre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms.
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