Nature Communications (May 2021)

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

  • Yulia Kargapolova,
  • Rizwan Rehimi,
  • Hülya Kayserili,
  • Joanna Brühl,
  • Konstantinos Sofiadis,
  • Anne Zirkel,
  • Spiros Palikyras,
  • Athanasia Mizi,
  • Yun Li,
  • Gökhan Yigit,
  • Alexander Hoischen,
  • Stefan Frank,
  • Nicole Russ,
  • Jonathan Trautwein,
  • Bregje van Bon,
  • Christian Gilissen,
  • Magdalena Laugsch,
  • Eduardo Gade Gusmao,
  • Natasa Josipovic,
  • Janine Altmüller,
  • Peter Nürnberg,
  • Gernot Längst,
  • Frank J. Kaiser,
  • Erwan Watrin,
  • Han Brunner,
  • Alvaro Rada-Iglesias,
  • Leo Kurian,
  • Bernd Wollnik,
  • Karim Bouazoune,
  • Argyris Papantonis

DOI
https://doi.org/10.1038/s41467-021-23327-1
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 15

Abstract

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Members of the CHD chromatin remodeler family are implicated in human pathologies, however CHD6 remained poorly studied. Here, the authors show that CHD6 binds to and regulates autophagy and stress response genes across cell types. They identify a clinical mutation that affects its ability to recruit cofactors, leading to impaired autophagy induction and DNA repair.