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Content archived on 2024-05-30

LINE-1 ACTIVITY IN SOMATIC STEM CELLS: IMPACT AND GENOMIC MOSAICISM

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Pinning down a jumping gene

EU-funded research is uncovering the workings of a jumping gene that appears to be highly active in the human genome. The findings of the Somatic Line-1 project are set to shed new light on the involvement of the jumping gene in human disease.

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The focus of the project is a mobile stretch of deoxyribonucleic acid (DNA) called 'Long interspersed element 1', or Line-1, or even simply L1. This jumping gene is able to copy and paste itself across the genome, and it is so prolific that it is responsible for a third of the human genome. When L1 lands in the middle of a gene, it can have consequences on our health; diseases such as cancer and haemophilia have been attributed to mutations caused by L1. At the same time, many genes have incorporated L1 elements into their regulatory systems. Among other things, Somatic Line-1's investigations have revealed that L1 is active in neuronal stem cells (NSCs) which have the potential to become different kinds of nerve cell. The researchers have also found that there are more copies of L1 jumping around in our brain cells than in other tissues taken from the same donor. This suggests that the genome of our brain is not fixed, although further research is needed to determine the biological significance of this finding. The project partners are now studying whether L1 activity is a characteristic of somatic stem cells in general, or if it is restricted to NSCs. Looking to the future, the project is expected to contribute to our understanding of the workings of L1 and its impacts on human health. Bearing in mind L1's possible involvement in certain diseases, the findings could even lead to the development of drugs to control its activity.

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