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
Affiliations
- Yulia Kargapolova
- Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Rizwan Rehimi
- Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Hülya Kayserili
- Medical Genetics Department, Koç University School of Medicine
- Joanna Brühl
- Institute of Molecular Biology and Tumor Research, Philipps-University Marburg
- Konstantinos Sofiadis
- Institute of Pathology, University Medical Center Göttingen
- Anne Zirkel
- Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Spiros Palikyras
- Institute of Pathology, University Medical Center Göttingen
- Athanasia Mizi
- Institute of Pathology, University Medical Center Göttingen
- Yun Li
- Institute of Human Genetics, University Medical Center Göttingen
- Gökhan Yigit
- Institute of Human Genetics, University Medical Center Göttingen
- Alexander Hoischen
- Department of Human Genetics, Radboud University Medical Center
- Stefan Frank
- Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Nicole Russ
- Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Jonathan Trautwein
- Institute of Molecular Biology and Tumor Research, Philipps-University Marburg
- Bregje van Bon
- Department of Human Genetics, Radboud University Medical Center
- Christian Gilissen
- Department of Human Genetics, Radboud University Medical Center
- Magdalena Laugsch
- Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Eduardo Gade Gusmao
- Institute of Pathology, University Medical Center Göttingen
- Natasa Josipovic
- Institute of Pathology, University Medical Center Göttingen
- Janine Altmüller
- Cologne Center for Genomics, University of Cologne
- Peter Nürnberg
- Cologne Center for Genomics, University of Cologne
- Gernot Längst
- Biochemistry Centre Regensburg (BRC), University of Regensburg
- Frank J. Kaiser
- Institute of Human Genetics, University Hospital Essen
- Erwan Watrin
- Research Institute of Genetics and Development, Faculté de Médecine
- Han Brunner
- Department of Human Genetics, Radboud University Medical Center
- Alvaro Rada-Iglesias
- Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Leo Kurian
- Center for Molecular Medicine Cologne (CMMC), University of Cologne
- Bernd Wollnik
- Institute of Human Genetics, University Medical Center Göttingen
- Karim Bouazoune
- Institute of Molecular Biology and Tumor Research, Philipps-University Marburg
- Argyris Papantonis
- Center for Molecular Medicine Cologne (CMMC), University of Cologne
- DOI
- https://doi.org/10.1038/s41467-021-23327-1
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 15
Abstract
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.
