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

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

Deanery of Clinical Sciences

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	1718-25
Number of pages	8
Journal	Cell Cycle
Volume	7
Issue number	12
Publication status	Published - 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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New roles for the major human 3'-5' exonuclease TREX1 in human diseaseAccepted author manuscript, 1.15 MB

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@article{1133d26b90e743b992f665e72f2f1d31,

title = "New roles for the major human 3'-5' exonuclease TREX1 in human disease",

abstract = "Aicardi-Gouti{\`e}res 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.",

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

author = "David Kavanagh and Dirk Spitzer and Kothari, {Parul H} and Aisha Shaikh and Liszewski, {M Kathryn} and Anna Richards and Atkinson, {John P}",

year = "2008",

month = jun,

day = "15",

language = "English",

volume = "7",

pages = "1718--25",

journal = "Cell Cycle",

issn = "1538-4101",

publisher = "Landes Bioscience",

number = "12",

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TY - JOUR

T1 - New roles for the major human 3'-5' exonuclease TREX1 in human disease

AU - Kavanagh, David

AU - Spitzer, Dirk

AU - Kothari, Parul H

AU - Shaikh, Aisha

AU - Liszewski, M Kathryn

AU - Richards, Anna

AU - Atkinson, John P

PY - 2008/6/15

Y1 - 2008/6/15

N2 - 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.

AB - 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.

KW - Brain Diseases

KW - Exodeoxyribonucleases

KW - Genetic Diseases, Inborn

KW - Humans

KW - Lupus Erythematosus, Systemic

KW - Mutation

KW - Phosphoproteins

KW - Retinal Diseases

KW - Sjogren's Syndrome

M3 - Article

C2 - 18583934

SN - 1538-4101

VL - 7

SP - 1718

EP - 1725

JO - Cell Cycle

JF - Cell Cycle

IS - 12

ER -

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

Abstract

Keywords / Materials (for Non-textual outputs)

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