Article
Heterozygosity for Crohn's disease risk allele of ATG16L1 promotes unique protein interactions and protects against bacterial infection.
Immunity - 10 Jun 2025
Yao Xiaomin, Rudensky Eugene, Martin Patricia K, Miller Brittany M, Vargas Isabel, Zwack Erin E, Lacey Keenan A, He Zhengxiang, Furtado Glaucia C, Lira Sérgio A, Torres Victor J, Shopsin Bo, Cadwell Ken
Abstract excerpt
The T300A substitution in ATG16L1 associated with Crohn's disease impairs autophagy, yet up to 50% of humans are heterozygous for this allele. Here, we demonstrate that heterozygosity for the analogous substitution in mice (Atg16L1T316A), but not homozygosity, protects against lethal Salmonella enterica Typhimurium infection. One copy of Atg16L1T316A was sufficient to enhance cytokine production through...
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