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

David Kavanagh, Dirk Spitzer, Parul H Kothari, Aisha Shaikh, M Kathryn Liszewski, Anna Richards, John P Atkinson

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.
Original languageEnglish
Pages (from-to)1718-25
Number of pages8
JournalCell Cycle
Volume7
Issue number12
Publication statusPublished - 15 Jun 2008

Keywords / Materials (for Non-textual outputs)

  • Brain Diseases
  • Exodeoxyribonucleases
  • Genetic Diseases, Inborn
  • Humans
  • Lupus Erythematosus, Systemic
  • Mutation
  • Phosphoproteins
  • Retinal Diseases
  • Sjogren's Syndrome

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