Recombination of repeat elements generates somatic complexity in human genomes

摘要

Non-allelic recombination between homologous repetitive elements contributes to evolution and human genetic disorders.Here,we combine short-and long-DNA read sequencing of repeat elements with a new bioinformatics pipeline to show that somatic recombination of Alu and L1 elements is widespread in the human genome.Our analysis uncovers tissue-specific non-allelic homologous recombination hallmarks;moreover,we find that centromeres and cancer-associated genes are enriched for retroelements that may act as recombination hotspots.We compare recombination profiles in human-induced pluripotent stem cells and differentiated neurons and find that the neuron-specific recombination of repeat elements accompanies chromatin changes during cell-fate determination.