{"entity": "publication", "iuid": "4ceb3924b6d24e108bebd9315453e1a0", "timestamp": "2026-08-22T06:57:20.983Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4ceb3924b6d24e108bebd9315453e1a0.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4ceb3924b6d24e108bebd9315453e1a0"}}, "title": "Recombination of repeat elements generates somatic complexity in human genomes.", "authors": [{"family": "Pascarella", "given": "Giovanni", "initials": "G"}, {"family": "Hon", "given": "Chung Chau", "initials": "CC"}, {"family": "Hashimoto", "given": "Kosuke", "initials": "K"}, {"family": "Busch", "given": "Annika", "initials": "A"}, {"family": "Luginb\u00fchl", "given": "Joachim", "initials": "J"}, {"family": "Parr", "given": "Callum", "initials": "C"}, {"family": "Hin Yip", "given": "Wing", "initials": "W"}, {"family": "Abe", "given": "Kazumi", "initials": "K"}, {"family": "Kratz", "given": "Anton", "initials": "A"}, {"family": "Bonetti", "given": "Alessandro", "initials": "A"}, {"family": "Agostini", "given": "Federico", "initials": "F"}, {"family": "Severin", "given": "Jessica", "initials": "J"}, {"family": "Murayama", "given": "Shigeo", "initials": "S"}, {"family": "Suzuki", "given": "Yutaka", "initials": "Y"}, {"family": "Gustincich", "given": "Stefano", "initials": "S"}, {"family": "Frith", "given": "Martin", "initials": "M"}, {"family": "Carninci", "given": "Piero", "initials": "P"}], "type": "journal article", "published": "2022-08-04", "journal": {"title": "Cell", "issn": "1097-4172", "volume": "185", "issue": "16", "pages": "3025-3040.e6", "issn-l": "0092-8674"}, "abstract": "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. Finally, we report that somatic recombination profiles are altered in Parkinson's and Alzheimer's disease, suggesting a link between retroelement recombination and genomic instability in neurodegeneration. This work highlights a significant contribution of the somatic recombination of repeat elements to genomic diversity in health and disease.", "doi": "10.1016/j.cell.2022.06.032", "pmid": "35882231", "labels": [], "xrefs": [{"db": "pii", "key": "S0092-8674(22)00784-X"}], "notes": [], "created": "2026-08-21T11:15:19.767Z", "modified": "2026-08-21T11:15:19.780Z"}