Nature Communications (May 2021)

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

  • Marija Kojic,
  • Tomasz Gawda,
  • Monika Gaik,
  • Alexander Begg,
  • Anna Salerno-Kochan,
  • Nyoman D. Kurniawan,
  • Alun Jones,
  • Katarzyna Drożdżyk,
  • Anna Kościelniak,
  • Andrzej Chramiec-Głąbik,
  • Soroor Hediyeh-Zadeh,
  • Maria Kasherman,
  • Woo Jun Shim,
  • Enakshi Sinniah,
  • Laura A. Genovesi,
  • Rannvá K. Abrahamsen,
  • Christina D. Fenger,
  • Camilla G. Madsen,
  • Julie S. Cohen,
  • Ali Fatemi,
  • Zornitza Stark,
  • Sebastian Lunke,
  • Joy Lee,
  • Jonas K. Hansen,
  • Martin F. Boxill,
  • Boris Keren,
  • Isabelle Marey,
  • Margarita S. Saenz,
  • Kathleen Brown,
  • Suzanne A. Alexander,
  • Sergey Mureev,
  • Alina Batzilla,
  • Melissa J. Davis,
  • Michael Piper,
  • Mikael Bodén,
  • Thomas H. J. Burne,
  • Nathan J. Palpant,
  • Rikke S. Møller,
  • Sebastian Glatt,
  • Brandon J. Wainwright

DOI
https://doi.org/10.1038/s41467-021-22888-5
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 18

Abstract

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Subunits of the Elongator complex have been implicated in several nervous system pathologies. Here, the authors identify ELP2 variants in six patients with neurodevelopmental anomalies and show in mouse models that these variants impact protein stability and the activity of the complex during brain development.