Andrés Moya
Professor of Genetics at the University of Valencia and researcher of the Genomics and Health Area at the Foundation for the Promotion of Health and Biomedical Research of the Valencian Community (Fisabio)
This is an extraordinary work in which the human spliceosome is studied by the procedure of inactivating its genetic components and, subsequently, its functionality is evaluated in the corresponding transcriptomes and the regulatory networks and associated decision-making processes that this machinery carries out.
This is a fundamental study that helps to understand, in a way that had not been done before, the intricate process of alternative processing that is so characteristic and fundamental to eukaryotic cells. Here they study, with such a basic approach to genetics as the systematic inactivation of components, how it affects function, understood as the product that finally results. But this product is examined by determining the complex interaction networks of the spliceosome, something that is a novelty with respect to previous studies.
In terms of its implications, this study actually dissects how this fundamental machinery works, evaluating in a very fine-grained way how the whole works and how it is affected when any component does not carry out its function, as well as the global effects that this has. As the authors themselves indicate at the end of their work, they evaluate the physiology of a eukaryotic machinery, but also its pathological effects when it does not work properly.
The work opens up important avenues of research. The authors focus on the human spliceosome, but this is a general machinery in eukaryotes, by no means as complex in other species. It remains to be seen what has happened to its evolution.