Structural features of somatic and germline retrotransposition events in humans
Our study reveals a stark contrast in somatic transposon activity between colorectal cancers and uterine leiomyomas, and highlights differences between somatic and germline transposition. This suggests potentially different conditions in malignant and non-malignant tissues, as well as in germline and somatic tissues, which could be involved in the transposition process. Long-read sequencing provided important insights into transposon behavior, allowing detailed examination of structural features such as twin priming and nested elements.
Authors
- Ralf Bützow (ORCID: https://orcid.org/0000-0003-4366-5099)
- Kimmo Palin (ORCID: https://orcid.org/0000-0002-4621-6128)
- Auli Karhu (ORCID: https://orcid.org/0000-0002-7927-0796)
- Oskari Heikinheimo (ORCID: https://orcid.org/0000-0002-8671-130X)
- Tatiana Cajuso (ORCID: https://orcid.org/0000-0002-6354-5572)
- Jan Böhm (ORCID: https://orcid.org/0000-0001-9664-588X)
- Anne Mattila (ORCID: https://orcid.org/0000-0001-6517-1765)
- Toni T. Seppälä (ORCID: https://orcid.org/0000-0002-4940-3498)
- Tuukka Norri (ORCID: https://orcid.org/0000-0002-8276-0585)
- Aurora Taira (ORCID: https://orcid.org/0000-0002-1179-8500)
- Lauri A. Aaltonen (ORCID: https://orcid.org/0000-0001-6839-4286)
- Laura Renkonen‐Sinisalo (ORCID: https://orcid.org/0000-0002-3122-5312)
- Anna Lepistö (ORCID: https://orcid.org/0000-0002-5866-4059)
- Heli Kuisma (ORCID: https://orcid.org/0000-0002-9816-3777)
- Ari Ristimäki (ORCID: https://orcid.org/0000-0002-5373-9234)
- Kyösti Tahkola (ORCID: https://orcid.org/0000-0002-1626-5690)
- Jukka‐Pekka Mecklin (ORCID: https://orcid.org/0000-0003-4895-2249)
- Annukka Pasanen (ORCID: https://orcid.org/0000-0002-0079-9807)
- Niko Välimäki (ORCID: https://orcid.org/0000-0001-9200-9560)
- Selja Koskensalo (ORCID: https://orcid.org/0000-0001-6959-8715)
- Kathleen H. Burns (ORCID: https://orcid.org/0000-0003-1620-3761)
- Emma Siili
- Päivi Nummi
Institutions
- University of Helsinki (FI)
- Harvard University (US)
- Tampere University of Applied Sciences (FI)
- Helsinki University Hospital (FI)
- Massachusetts General Hospital (US)
- Dana-Farber Cancer Institute (US)
- Tampere University Hospital (FI)
- Tampere University (FI)
- Institute for Molecular Medicine Finland (FI)
- Central Finland Health Care District (FI)
- Hospital District of Helsinki and Uusimaa (FI)
- University of Jyväskylä (FI)
Publication Details
- Journal
- Mobile DNA
- Published
- 2025-04-22
- DOI
- https://doi.org/10.1186/s13100-025-00357-w
- Citations
- 3
- Primary Topic
- Chromosomal and Genetic Variations
- Type
- article
- Field-Weighted Citation Impact
- 5.25
Funders
- Helsingin Yliopisto
- Helsingin ja Uudenmaan Sairaanhoitopiiri
- Jane ja Aatos Erkon Säätiö
- China Scholarship Council
- Syöpäjärjestöt