Recombination of Alu and L1 elements generates somatic complexity in human genomes

Giovanni Pascarella

Giovanni Pascarella, RIKEN Center for Integrative Medical Sciences, Japan


In this presentation, I will describe our strategy combining short- and long-read DNA sequencing technologies to show that somatic recombination of Alu and LINE-1 elements is common in human genomes. We identified tissue-specific hallmarks of repeat recombination and show that retroelements acting as recombination hotspots are enriched in cancer genes. By differentiating human induced pluripotent stem cells into mature neurons, we revealed that the emergence of neuron-specific recombination profiles accompanies cell-fate determination. Finally, we found that recombination profiles are altered in Parkinson’s and Alzheimer’s disease, indicating a link between retroelements recombination and genomic instability in neurodegeneration. Our work shows that somatic recombination of repeat elements contributes massively to genomic diversity in health and disease.


Giovanni Pascarella graduated in Pharmaceutical Biotechnology at University of Naples Federico II in 2004. He obtained a Ph.D. in structural and functional genomics from the International School for Advanced Studies in Trieste and soon after joined the Laboratory for Transcriptome Technology led by Dr. Piero Carninci at Riken Institute located in Yokohama, Japan.