{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T01:33:07Z","timestamp":1791423187767,"version":"4.3.3"},"reference-count":23,"publisher":"Portland Press Ltd.","issue":"3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2009,6,1]]},"abstract":"<jats:p>The major DNA-specific 3\u2032\u20135\u2032 exonuclease of mammalian cells is TREX1 (3\u2032 repair exonuclease 1; previously called DNase III). The human enzyme is encoded by a single exon and, like many 3\u2032 exonucleases, exists as a homodimer. TREX1 degrades ssDNA (single-stranded DNA) more efficiently than dsDNA (double-stranded DNA), and its catalytic properties are similar to those of Escherichia coli exonuclease X. However, TREX1 is only found in mammals and has an extended C-terminal domain containing a leucine-rich sequence required for its association with the endoplasmic reticulum. In normal S-phase and also in response to genotoxic stress, TREX1 at least partly redistributes to the cell nucleus. In a collaborative project, we have demonstrated TREX1 enzyme deficiency in Aicardi\u2013Gouti\u00e8res syndrome. Subsequently, we have shown that AGS1 cells exhibit chronic ATM (ataxia telangiectasia mutated)-dependent checkpoint activation, and these TREX1-deficient cells accumulate ssDNA fragments of a distinct size generated during DNA replication. Other groups have shown that the syndromes of familial chilblain lupus as well as systemic lupus erythematosus, and the distinct neurovascular disorder retinal vasculopathy with cerebral leukodystrophy, can be caused by dominant mutations at different sites within the TREX1 gene.<\/jats:p>","DOI":"10.1042\/bst0370535","type":"journal-article","created":{"date-parts":[[2009,5,20]],"date-time":"2009-05-20T13:18:20Z","timestamp":1242825500000},"page":"535-538","update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease"],"prefix":"10.1042","volume":"37","author":[{"given":"Tomas","family":"Lindahl","sequence":"first","affiliation":[{"name":"Clare Hall Laboratories, Cancer Research UK London Research Institute, South Mimms, Herts. EN6 3LD, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah\u00a0E.","family":"Barnes","sequence":"additional","affiliation":[{"name":"Clare Hall Laboratories, Cancer Research UK London Research Institute, South Mimms, Herts. EN6 3LD, U.K."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Gui","family":"Yang","sequence":"additional","affiliation":[{"name":"Beijing Institute of Genomics, Chinese Academy of Sciences, 7 Beitucheng West Road, Chaoyang District, Beijing 100029, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Robins","sequence":"additional","affiliation":[{"name":"Clare Hall Laboratories, Cancer Research UK London Research Institute, South Mimms, Herts. 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