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New roles for the major human 3′-5′ exonuclease TREX1 in human disease

Lookup NU author(s): Professor David KavanaghORCiD

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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. ©2008 Landes Bioscience.

Publication metadata

Author(s): Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP

Publication type: Article

Publication status: Published

Journal: Cell Cycle

Year: 2008

Volume: 7

Issue: 12

Pages: 1718-1725

Date deposited: 24/11/2010

ISSN (print): 1538-4101

ISSN (electronic): 1551-4005

Publisher: Landes Bioscience

URL: http://www.landesbioscience.com/journals/cc/article/6162/

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