Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

3-prime Reperatur-Exonuclease 1

Das TREX1-Gen kodiert eine Exonuklease, welche bei DNA-Reperaturvorgängen zum Einsatz kommt. Mutationen führen zu autosomal dominanten Erkrankungen wie familiärem Chilblain-Lupus 1, Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen und Aicardi-Goutières-Syndrom 1. Letzteres kann auch rezessiv auftreten.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Aicardi-Goutières-Syndrom 1
TREX1
familiärer Chilblain-Lupus 1
TREX1
Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen
TREX1
Suszeptibilität für systemischen Lupus erythematodes
Anfälligkeit für systemischen Lupus erythematodes 9
CR2
CTLA4
DNASE1
FCGR2A
FCGR2B
PTPN22
Suszeptibilität für Lupus-Nephritis
FCGR2A
TREX1

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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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10.

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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11.

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

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12.

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

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13.

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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14.

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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15.

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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16.

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

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17.

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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18.

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

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19.

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

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20.

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

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21.

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

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22.

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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23.

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

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24.

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

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Update: 17. Oktober 2019