CRG: When the smallest word changes everything

CRG: When the smallest word changes everything

News from CRG

The genome is the cell's book of instructions. All the cells in our body contain the same genomic information but each of them “reads” the gene fragments that interest them in order to carry out their function. So, neurones, hepatocytes and cardiac cells are different although their genome is the same. In order to achieve this huge variety of functions from the same genome, the cells employ a mechanism known as alternative splicing. This enables them to combine several fragments – known as exons – from the same genes in order to give rise to different proteins, in the same way that combinations of key words can create different phrases.

The work published in the journal Cell presents the group of microexons that the scientists have discovered and reveals interesting aspects of these small gene fragments. On the one hand, the researchers have seen that, although microexons are small, they play a very important role in neuron maturation. “The nervous system is the only place where we have found that the majority of microexons are activated, and we have discovered that they provide important functions in developing neurons”, adds Dr Irimia. They have also observed a relationship between these microexons and autism: a great number of the microexons studied are not expressed correctly in individuals with autism, including several microexons in genes that had previously been associated with this disorder.

Manuel Irimia has just obtained one of the prestigious “Starting Grants” from the European Research Council (ERC). These grants support outstanding young investigators in their fields so that they can set up their own laboratories and carry out cutting-edge research over a four-year period. Manuel Irimia's project “Functions and evolutionary impact of transcriptomic novelties in the vertebrate brain” looks to understand the functions and evolutionary impact of alternative splicing on the nervous system of vertebrates and has been funded with 1.5 million euros.

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Irimia M et al. “A highly conserved program of neuronal microexons is misregulated in autistic brainsCell 18 Dec 2014