Nature Communications (Nov 2020)

Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma

  • Konstantin Helmsauer,
  • Maria E. Valieva,
  • Salaheddine Ali,
  • Rocío Chamorro González,
  • Robert Schöpflin,
  • Claudia Röefzaad,
  • Yi Bei,
  • Heathcliff Dorado Garcia,
  • Elias Rodriguez-Fos,
  • Montserrat Puiggròs,
  • Katharina Kasack,
  • Kerstin Haase,
  • Csilla Keskeny,
  • Celine Y. Chen,
  • Luis P. Kuschel,
  • Philipp Euskirchen,
  • Verena Heinrich,
  • Michael I. Robson,
  • Carolina Rosswog,
  • Joern Toedling,
  • Annabell Szymansky,
  • Falk Hertwig,
  • Matthias Fischer,
  • David Torrents,
  • Angelika Eggert,
  • Johannes H. Schulte,
  • Stefan Mundlos,
  • Anton G. Henssen,
  • Richard P. Koche

DOI
https://doi.org/10.1038/s41467-020-19452-y
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 12

Abstract

Read online

MYCN amplification is common in neuroblastomas. Here the authors analyse the MYCN amplicon structure and its epigenetic regulation by integrating short- and longread genomic and epigenomic data and find two classes of MYCN amplicons in neuroblastomas, one driven by local enhancers and the other by hijacking of distal regulatory elements.