Sign up for Table of Contents Alerts.
Cell Cycle is published 24 times a year.
Email this page
Print this page
Extra Views
New roles for the major human 3′-5′ exonuclease TREX1 in human disease
David Kavanagh, Dirk Spitzer, Parul Kothari, Aisha Shaikh, M. Kathryn Liszewski, Anna Richards and John P. Atkinson
volume 7 | issue 12
15 June 2008Pages: 1718 - 1725
Subscribe to this journal for $129/year
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
David Kavanagh
Newcastle University; Newcastle, UK
Dirk Spitzer
Washington University School of Medicine; St Louis, MO
Parul Kothari
Washington University School of Medicine; St Louis, MO
Aisha Shaikh
Washington University School of Medicine; St Louis, MO
M. Kathryn Liszewski
Washington University School of Medicine; St Louis, MO
Anna Richards
University of Edinburgh; Edinburgh, UK
John P. Atkinson
Washington University School of Medicine; St Louis, MO