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The Atg16l1 gene: characterization of wild type, knock-in, and knock-out phenotypes in rats.


ABSTRACT: ATG16L1 is a ubiquitous autophagy gene responsible, in part, for formation of the double-membrane bound autophagosome that delivers unwanted cellular debris and intracellular pathogens to the lysosome for degradation. A single, nonsynonymous adenine to guanine polymorphism resulting in a threonine to alanine amino acid substitution (T300A) directly preceded by a caspase cleavage site (DxxD) causes an increased susceptibility to Crohn's disease (CD) in humans. The mechanism behind this increased susceptibility is still being elucidated, however, the amino acid change caused by this point mutation results in increased ATG16L1 protein sensitivity to caspase 3-mediated cleavage. To generate novel rat strains carrying genetic alterations in the rat Atg16l1 gene, we first character

SUBMITTER: Chesney KL 

PROVIDER: S-EPMC8285577 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature

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