Alternative splicing of RNA transcripts is a process leading to differential gene expression and the production of different proteins, which is the key to cell differentiation and a foundation of many diseases. A group directed by Jordi García-Fernàndez and Gemma Marfany, from the Department of Genetics and the Institute of Biomedicine of the University of Barcelona (IBUB), has described the generation of a gene network regulated by the splicing factor NOVA1 during the development of the central nervous system in vertebrates.

The study, published in the journal Proceedings of the National Academy of Sciences (PNAS), is signed by the first author Manuel Irimia, and was contributed to by Amanda Denuc, Demian Burguera, Ildiko Somorjai, Jose. M. Martín-Duran and Senda Jiménez-Delgado, from the Department of Genetics of the University of Barcelona, and by other experts from the University of Vienna (Austria) and Stanford University (United States).

Over 90% of human genes, formed by introns and exons, generate multiple transcripts by a process known as alternative splicing, which facilitates the removal of introns (unexpressed fragments) and the combination of exons (expressed fragments) to form different proteins. Many hereditary genetic diseases are related to errors in the alternative splicing mechanism.

The article in PNAS focuses on the NOVA1 (neuro-oncological ventral antigen 1) protein, a splicing factor involved in the differential splicing of RNA. NOVA1 is present in all animal groups, in particular vertebrates, and regulates the production of messenger RNA with specific tissue-related functions. In the case of the central nervous system, messenger RNA encode basic proteins related to ion channels, neurotransmitter receptors, molecules involved in synapse formation, etc.

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