Publications by authors named "Susana Rodriguez-Santiago"
Mutations in the U2 snRNP component SF3B1 are prominent in myelodysplastic syndromes (MDSs) and other cancers and have been shown recently to alter branch site (BS) or 3' splice site selection in splicing. However, the molecular mechanism of altered splicing is not known. We show here that hsh155 mutant alleles in Saccharomyces cerevisiae, counterparts of SF3B1 mutations frequently found in cancers, specifically change splicing of suboptimal BS pre-mRNA substrates.
View Article and Find Full Text PDFThe Muller F element (4.2 Mb, ~80 protein-coding genes) is an unusual autosome of Drosophila melanogaster; it is mostly heterochromatic with a low recombination rate. To investigate how these properties impact the evolution of repeats and genes, we manually improved the sequence and annotated the genes on the D.
View Article and Find Full Text PDFArticle Synopsis
- Mammals have two key enzymes, BCO1 and BCO2, that convert provitamin A (like β-carotene) into retinoids, which are essential for vitamin A production.
- Disrupting the BCO1 enzyme leads to β-carotene buildup and vitamin A deficiency, whereas BCO2 contributes to generating a small amount of an alternative product, β-apo-10'-carotenol (APO10ol).
- The research suggests a collaborative mechanism between BCO1 and BCO2 in the metabolism of carotenoids, highlighting their roles in maintaining retinoid levels from dietary sources.