Quantitative assessment reveals the dominance of duplicated sequences in germline-derived extrachromosomal circular DNA
Abstract
Extrachromosomal circular DNA (eccDNA) plays a role in human diseases such as cancer, but little is known about the impact of eccDNA in healthy human biology. Since eccDNA is a tiny fraction of nuclear DNA, artificial amplification has been employed to increase eccDNA amounts, resulting in the loss of native compositions. We developed an approach to enrich eccDNA populations at the native state (naïve small circular DNA, nscDNA) and investigated their origins in the human genome. We found that, in human sperm, the vast majority of nscDNA came from high-copy genomic regions, including the most variable regions between individuals. Because eccDNA can be incorporated back into chromosomes, eccDNA may promote human genetic variation.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Nov 17, 2021
- Source ID
- 10.1073/pnas.2102842118
Entities
People
- Anna Malkova
- Armando E. Giuliano
- Arvis Sulovari
- Beth Osia
- Evan E. Eichler
- Hisashi Tanaka
- Lila Mouakkad
- Makoto Katsumata
- Michael Murata
- Ryusuke Suzuki
Organizations
- Cedars-Sinai Medical Center
- National Cancer Institute
- United States Department of Defense
- University of Iowa
- University of Washington