Nature Communications (Nov 2022)

PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation

  • Maria Stahl Madsen,
  • Marjoleine F. Broekema,
  • Martin Rønn Madsen,
  • Arjen Koppen,
  • Anouska Borgman,
  • Cathrin Gräwe,
  • Elisabeth G. K. Thomsen,
  • Denise Westland,
  • Mariette E. G. Kranendonk,
  • Marian Groot Koerkamp,
  • Nicole Hamers,
  • Alexandre M. J. J. Bonvin,
  • José M. Ramos Pittol,
  • Kedar Nath Natarajan,
  • Sander Kersten,
  • Frank C. P. Holstege,
  • Houshang Monajemi,
  • Saskia W. C. van Mil,
  • Michiel Vermeulen,
  • Birthe B. Kragelund,
  • David Cassiman,
  • Susanne Mandrup,
  • Eric Kalkhoven

DOI
https://doi.org/10.1038/s41467-022-34766-9
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 19

Abstract

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Mutations in PPARγ lead to lipodystrophy, but the mechanisms by which the mutations affect the activity in chromatin is unknown. Here, Madsen, Broekema et al. showed that mutations affecting two intermolecular interactions compromise chromatin remodeling.