Identification and characterization of extrachromosomal circular DNA in maternal plasma
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AbstractWe explored the presence of extrachromosomal circular DNA (eccDNA) in the plasma of pregnant women. Through sequencing following either restriction enzyme or Tn5 transposase treatment, we identified eccDNA molecules in the plasma of pregnant women. These eccDNA molecules showed bimodal size distributions peaking at ∼202 and ∼338 bp with distinct 10-bp periodicity observed throughout the size ranges within both peaks, suggestive of their nucleosomal origin. Also, the predominance of the 338-bp peak of eccDNA indicated that eccDNA had a larger size distribution than linear DNA in human plasma. Moreover, eccDNA of fetal origin were shorter than the maternal eccDNA. Genomic annotation of the overall population of eccDNA molecules revealed a preference of these molecules to be generated from 5'-untranslated regions (5'-UTRs), exonic regions, and CpG island regions. Two sets of trinucleotide repeat motifs flanking the junctional sites of eccDNA supported multiple possible models for eccDNA generation. This work highlights the topologic analysis of plasma DNA, which is an emerging direction for circulating nucleic acid research and applications.
All Author(s) ListSin STK, Jiang P, Deng J, Ji L, Cheng SH, Dutta A, Leung TY, Chan KCA, Chiu RWK, Lo YMD
Journal nameProceedings of the National Academy of Sciences of the United States of America
Year2020
Month1
Day21
Volume Number117
Issue Number3
PublisherNational Academy of Sciences
Pages1658 - 1665
ISSN0027-8424
LanguagesEnglish-United Kingdom

Last updated on 2021-07-06 at 23:56