Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

3-prime repair exonuclease 1

The TREX1 gene ecodes an exonuclease involved in DNA repair. Mutations cause various autosomal dominant disorders including Familial chilblain lupus 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, and Aicardi-Goutieres syndrome 1, the latter also recssive.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Aicardi-Goutieres syndrome 1
TREX1
Familial chilblain lupus 1
TREX1
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
TREX1
Susceptibility to systemic lupus erythematosus
CTLA4
DNASE1
FCGR2A
FCGR2B
PTPN22
Susceptibility to lupus nephritis
FCGR2A
Susceptibility to systemic lupus erythematosus 03
Susceptibility to systemic lupus erythematosus 04
Susceptibility to systemic lupus erythematosus 05
Susceptibility to systemic lupus erythematosus 06
Susceptibility to systemic lupus erythematosus 07
Susceptibility to systemic lupus erythematosus 08
Susceptibility to systemic lupus erythematosus 09
CR2
Susceptibility to systemic lupus erythematosus 10
IRF5
Susceptibility to systemic lupus erythematosus 11
STAT4
Susceptibility to systemic lupus erythematosus 12
Susceptibility to systemic lupus erythematosus 13
Susceptibility to systemic lupus erythematosus 14
Susceptibility to systemic lupus erythematosus 15
IRAK1
Susceptibility to systemic lupus erythematosus 16
DNASE1L3
TREX1
systemic_lupus_erythematosus_susceptibility_to_1
TLR5
systemic_lupus_erythematosus_susceptibility_to_2
PDCD1

References:

1.

Lee-Kirsch MA et al. (2007) A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.

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2.

Adang LA et al. (2018) Aicardi goutières syndrome is associated with pulmonary hypertension.

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3.

Peschke K et al. (2016) Loss of Trex1 in Dendritic Cells Is Sufficient To Trigger Systemic Autoimmunity.

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4.

Cuadrado E et al. (2015) Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.

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5.

Ablasser A et al. (2014) TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner.

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6.

Fye JM et al. (2011) Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.

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7.

Yan N et al. (2010) The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1.

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8.

Haaxma CA et al. (2010) A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

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9.

Lehtinen DA et al. (2008) The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease.

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10.

Stetson DB et al. (2008) Trex1 prevents cell-intrinsic initiation of autoimmunity.

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11.

Richards A et al. (2007) C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

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12.

Lee-Kirsch MA et al. (2007) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

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13.

Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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14.

Rice G et al. (2007) Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome.

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15.

Lee-Kirsch MA et al. (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

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16.

Crow YJ et al. (2006) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

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17.

Chowdhury D et al. (2006) The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death.

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18.

Morita M et al. (2004) Gene-targeted mice lacking the Trex1 (DNase III) 3'-->5' DNA exonuclease develop inflammatory myocarditis.

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19.

Mazur DJ et al. (2001) Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes.

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20.

Höss M et al. (1999) A human DNA editing enzyme homologous to the Escherichia coli DnaQ/MutD protein.

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21.

Mazur DJ et al. (1999) Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3'-->5' exonucleases.

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22.

Jen J et al. (1997) Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).

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23.

Grand MG et al. (1988) Cerebroretinal vasculopathy. A new hereditary syndrome.

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24.

Storimans CW et al. () A new autosomal dominant vascular retinopathy syndrome.

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Update: Aug. 14, 2020
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