Identification and characterization of extrachromosomal circular DNA in maternal plasma
Publication in refereed journal

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摘要We 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.
著者Sin STK, Jiang P, Deng J, Ji L, Cheng SH, Dutta A, Leung TY, Chan KCA, Chiu RWK, Lo YMD
期刊名稱Proceedings of the National Academy of Sciences of the United States of America
出版年份2020
月份1
日期21
卷號117
期次3
出版社National Academy of Sciences
頁次1658 - 1665
國際標準期刊號0027-8424
語言英式英語

上次更新時間 2020-13-09 於 23:07