Prevalence and impact of molecular variation in the three-prime repair exonuclease 1 TREX1 and its implications for oncology.

ABSTRACT:

Background

The three-prime repair exonuclease 1, TREX1, degrades cytosolic DNA to prevent aberrant immune activation. Its inactivation results in DNA accumulation in the cytosol and induction of the cGAS-STING DNA sensing pathway, interferon signaling, and inflammation. Germline pathogenic TREX1 mutations are known to lead to hereditary autoimmune and autoinflammatory disorders, whereas the consequences of TREX1 mutations in cancer remain poorly understood.

Results

To assess the importance of human TREX1 amino acid variants, we analyzed protein sequences of the functional TREX1b isoform from 168 mammalian species and integrated available data on TREX1 sequence and copy number alterations in hereditary autoimmune and autoinflammatory disorders, cancer, and in human population

SUBMITTER: Shekfeh M 

PROVIDER: S-EPMC12206365 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature