title: New roles for the major human 3'-5' exonuclease TREX1 in human disease.
abstract: Aicardi-Goutières syndrome (AGS), Systemic Lupus Erythematosus (SLE), Familial Chilblain Lupus (FCL) and Retinal Vasculopathy and Cerebral Leukodystrophy (RVCL) {a new term encompassing three independently described conditions with a common etiology--Cerebroretinal Vasculopathy (CRV), Hereditary Vascular Retinopathy (HVR) and Hereditary Endotheliopathy, Retinopathy and Nephropathy (HERNS)}--have previously been regarded as distinct entities. However, recent genetic analysis has demonstrated that each of these diseases maps to chromosome 3p21 and can be caused by mutations in TREX1, the major human 3'-5' exonuclease. In this review, we discuss the putative functions of TREX1 in relationship to the clinical, genetic and functional characteristics of each of these conditions.
authors.affiliation: Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom.
authors.forename: David
authors.initials: D
authors.lastname: Kavanagh
authors.forename: Dirk
authors.initials: D
authors.lastname: Spitzer
authors.forename: Parul H
authors.initials: PH
authors.lastname: Kothari
authors.forename: Aisha
authors.initials: A
authors.lastname: Shaikh
authors.forename: M Kathryn
authors.initials: MK
authors.lastname: Liszewski
authors.forename: Anna
authors.initials: A
authors.lastname: Richards
authors.forename: John P
authors.initials: JP
authors.lastname: Atkinson
mesh_terms: D001927:Brain Diseases / Q000175:diagnosis / Q000235:genetics; D005090:Exodeoxyribonucleases / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D010750:Phosphoproteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics; D012859:Sjogren's Syndrome / Q000175:diagnosis / Q000235:genetics
chemical_list: D010750:Phosphoproteins; D005090:Exodeoxyribonucleases; C486104:TREX2 protein, human; C429526:three prime repair exonuclease 1