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Circular DNA elements of chromosomal origin are common in healthy human somatic tissue

Author

Listed:
  • Henrik Devitt Møller

    (University of Copenhagen)

  • Marghoob Mohiyuddin

    (Roche Sequencing Solutions)

  • Iñigo Prada-Luengo

    (University of Copenhagen)

  • M. Reza Sailani

    (School of Medicine)

  • Jens Frey Halling

    (University of Copenhagen)

  • Peter Plomgaard

    (Rigshospitalet
    University of Copenhagen)

  • Lasse Maretty

    (University of Copenhagen)

  • Anders Johannes Hansen

    (The Natural History Museum of Denmark, University of Copenhagen)

  • Michael P. Snyder

    (School of Medicine)

  • Henriette Pilegaard

    (University of Copenhagen)

  • Hugo Y. K. Lam

    (Roche Sequencing Solutions)

  • Birgitte Regenberg

    (University of Copenhagen)

Abstract

The human genome is generally organized into stable chromosomes, and only tumor cells are known to accumulate kilobase (kb)-sized extrachromosomal circular DNA elements (eccDNAs). However, it must be expected that kb eccDNAs exist in normal cells as a result of mutations. Here, we purify and sequence eccDNAs from muscle and blood samples from 16 healthy men, detecting ~100,000 unique eccDNA types from 16 million nuclei. Half of these structures carry genes or gene fragments and the majority are smaller than 25 kb. Transcription from eccDNAs suggests that eccDNAs reside in nuclei and recurrence of certain eccDNAs in several individuals implies DNA circularization hotspots. Gene-rich chromosomes contribute to more eccDNAs per megabase and the most transcribed protein-coding gene in muscle, TTN (titin), provides the most eccDNAs per gene. Thus, somatic genomes are rich in chromosome-derived eccDNAs that may influence phenotypes through altered gene copy numbers and transcription of full-length or truncated genes.

Suggested Citation

  • Henrik Devitt Møller & Marghoob Mohiyuddin & Iñigo Prada-Luengo & M. Reza Sailani & Jens Frey Halling & Peter Plomgaard & Lasse Maretty & Anders Johannes Hansen & Michael P. Snyder & Henriette Pilegaa, 2018. "Circular DNA elements of chromosomal origin are common in healthy human somatic tissue," Nature Communications, Nature, vol. 9(1), pages 1-12, December.
    • Handle: RePEc:nat:natcom:v:9:y:2018:i:1:d:10.1038_s41467-018-03369-8
    DOI: 10.1038/s41467-018-03369-8
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    Cited by:

    1. Xue-Ke Zhao & Pengwei Xing & Xin Song & Miao Zhao & Linxuan Zhao & Yonglong Dang & Ling-Ling Lei & Rui-Hua Xu & Wen-Li Han & Pan-Pan Wang & Miao-Miao Yang & Jing-Feng Hu & Kan Zhong & Fu-You Zhou & Xu, 2021. "Focal amplifications are associated with chromothripsis events and diverse prognoses in gastric cardia adenocarcinoma," Nature Communications, Nature, vol. 12(1), pages 1-14, December.

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