Quantitative assessment reveals the dominance of duplicated sequences in germline-derived extrachromosomal circular DNA.

ABSTRACT: Extrachromosomal circular DNA (eccDNA) originates from linear chromosomal DNA in various human tissues under physiological and disease conditions. The genomic origins of eccDNA have largely been investigated using in vitro-amplified DNA. However, in vitro amplification obscures quantitative information by skewing the total population stoichiometry. In addition, the analyses have focused on eccDNA stemming from single-copy genomic regions, leaving eccDNA from multicopy regions unexamined. To address these issues, we isolated eccDNA without in vitro amplification (naïve small circular DNA, nscDNA) and assessed the populations quantitatively by integrated genomic, molecular, and cytogenetic approaches. nscDNA of up to tens of kilobases were successfully enriched by our approach and were predo

SUBMITTER: Mouakkad-Montoya L 

PROVIDER: S-EPMC8617514 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature