This gene encodes the major 3'->5' DNA [[exonuclease]] in human cells. The protein is a non-processive exonuclease that may serve a proofreading function for a human DNA polymerase. It is also a component of the SET complex, and acts to rapidly degrade 3' ends of nicked DNA during granzyme A-mediated cell death. Mutations in this gene result in [[Aicardi-Goutieres syndrome]], chilblain lupus, [[Autosomal dominant retinal vasculopathy with cerebral leukodystrophy|RVCL (Retinal Vasculopathy with Cerebral Leukodystrophy)]], and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene.<ref name="entrez" />
This gene encodes the major 3'->5' DNA [[exonuclease]] in human cells. The protein is a non-processive exonuclease that may serve a proofreading function for a human DNA polymerase. It is also a component of the SET complex, and acts to rapidly degrade 3' ends of nicked DNA during granzyme A-mediated cell death. Mutations in this gene result in [[Aicardi-Goutieres syndrome]], chilblain lupus, [[Autosomal dominant retinal vasculopathy with cerebral leukodystrophy|RVCL (Retinal Vasculopathy with Cerebral Leukodystrophy)]], and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene.<ref name="entrez" />
== clinical relevance ==
== Clinical relevance ==
TREX1 helps HIV‑1 to evade cytosolic sensing by degrading viral cDNA in the cytoplasm<ref>{{cite journal|last1=Doyle|first1=Thomas|title=HIV-1 and interferons: who's interfering with whom?|journal=Nature Reviews Microbiology|date=27 April 2015|volume=13|issue=Nature Reviews Microbiology 13|pages=403–413|doi=10.1038/nrmicro3449|url=http://www.nature.com/nrmicro/journal/v13/n7/abs/nrmicro3449.html|accessdate=6 April 2016|pmid=25915633}}</ref>
TREX1 helps HIV‑1 to evade cytosolic sensing by degrading viral cDNA in the cytoplasm<ref>{{cite journal|last1=Doyle|first1=Thomas|title=HIV-1 and interferons: who's interfering with whom?|journal=Nature Reviews Microbiology|date=27 April 2015|volume=13|issue=Nature Reviews Microbiology 13|pages=403–413|doi=10.1038/nrmicro3449|url=http://www.nature.com/nrmicro/journal/v13/n7/abs/nrmicro3449.html|accessdate=6 April 2016|pmid=25915633}}</ref>
This gene encodes the major 3'->5' DNA exonuclease in human cells. The protein is a non-processive exonuclease that may serve a proofreading function for a human DNA polymerase. It is also a component of the SET complex, and acts to rapidly degrade 3' ends of nicked DNA during granzyme A-mediated cell death. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, RVCL (Retinal Vasculopathy with Cerebral Leukodystrophy), and Cree encephalitis. Multiple transcript variants encoding different isoforms have been found for this gene.[4]
Clinical relevance
TREX1 helps HIV‑1 to evade cytosolic sensing by degrading viral cDNA in the cytoplasm[5]
References
↑Mazur DJ, Perrino FW (Aug 1999). "Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases". J Biol Chem. 274 (28): 19655–60. doi:10.1074/jbc.274.28.19655. PMID10391904.
↑Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Hamel BC, Corry PC, Cowan FM, Frints SG, Klepper J, Livingston JH, Lynch SA, Massey RF, Meritet JF, Michaud JL, Ponsot G, Voit T, Lebon P, Bonthron DT, Jackson AP, Barnes DE, Lindahl T (Jul 2006). "Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus". Nat Genet. 38 (8): 917–20. doi:10.1038/ng1845. PMID16845398.
Black DN, Watters GV, Andermann E, et al. (1989). "Encephalitis among Cree children in northern Quebec". Ann. Neurol. 24 (4): 483–9. doi:10.1002/ana.410240402. PMID3239950.
Perrino FW, Miller H, Ealey KA (1994). "Identification of a 3'-->5'-exonuclease that removes cytosine arabinoside monophosphate from 3' termini of DNA". J. Biol. Chem. 269 (23): 16357–63. PMID8206943.
Goutières F, Aicardi J, Barth PG, Lebon P (1999). "Aicardi-Goutières syndrome: an update and results of interferon-alpha studies". Ann. Neurol. 44 (6): 900–7. doi:10.1002/ana.410440608. PMID9851434.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID16189514.
Chowdhury D, Beresford PJ, Zhu P, et al. (2006). "The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death". Mol. Cell. 23 (1): 133–42. doi:10.1016/j.molcel.2006.06.005. PMID16818237.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID17081983.
