Nature Communications (Jun 2016)

The T300A Crohn’s disease risk polymorphism impairs function of the WD40 domain of ATG16L1

  • Emilio Boada-Romero,
  • Inmaculada Serramito-Gómez,
  • María P. Sacristán,
  • David L. Boone,
  • Ramnik J. Xavier,
  • Felipe X. Pimentel-Muiños

DOI
https://doi.org/10.1038/ncomms11821
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 13

Abstract

Read online

The T300A substitution in ATG16L is associated with Crohn’s disease risk and disrupts clearance of intracellular pathogens by autophagy. Here the authors show that the mutation impairs interaction of ATG16L with TMEM59 and disrupts unconventional TMEM-induced autophagy, an aspect of innate immunity.