Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Doppelstrang-RNA-spezifische Adenosin-Deaminase

Das vom ADAR-Gen kodierte Enzym, welchen in doppelsträngiger RNA (dsRNA) Adenosin zu Inosin deaminiert und damit nicht nur die Struktur der der Helix destabilisiert sondern auch den Weg für weitere Modifikationen bahnt. Somit besitzt diese Funktion eine wichtige Rolle beim Editieren der RNA und bei RNA-Virus-Infektionen. Mutationen sind für die autosomal dominante Hauterkrankung Dyschromatosis symmetrica hereditaria und das autosomal rezessive Aicardi-Goutieres-Syndrom 6 verantwortlich.

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

Verknüpfte Erkrankungen:

Aicardi-Goutières-Syndrom 6
ADAR
Dyschromatosis symmetrica hereditaria
ADAR

Referenzen:

1.

Haralambieva IH et al. (2011) Genetic polymorphisms in host antiviral genes: associations with humoral and cellular immunity to measles vaccine.

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2.

Wathelet MG et al. (1988) Cloning and chromosomal location of human genes inducible by type I interferon.

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3.

Bass BL et al. (1988) An unwinding activity that covalently modifies its double-stranded RNA substrate.

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4.

Wang Y et al. (1995) Genomic organization and chromosomal location of the human dsRNA adenosine deaminase gene: the enzyme for glutamate-activated ion channel RNA editing.

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5.

Patterson JB et al. (1995) Expression and regulation by interferon of a double-stranded-RNA-specific adenosine deaminase from human cells: evidence for two forms of the deaminase.

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6.

O'Connell MA et al. (1995) Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase.

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7.

Kim U et al. (1994) Molecular cloning of cDNA for double-stranded RNA adenosine deaminase, a candidate enzyme for nuclear RNA editing.

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8.

Weier HU et al. (1995) The interferon-inducible, double-stranded RNA-specific adenosine deaminase gene (DSRAD) maps to human chromosome 1q21.1-21.2.

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9.

Weier HU et al. (2000) Assignment of the RNA-specific adenosine deaminase gene (Adar) to mouse chromosome 3F2 by in situ hybridization.

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10.

Wang Q et al. (2000) Requirement of the RNA editing deaminase ADAR1 gene for embryonic erythropoiesis.

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11.

Herbert A et al. (2002) Induction of protein translation by ADAR1 within living cell nuclei is not dependent on RNA editing.

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12.

Miyamura Y et al. (2003) Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.

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13.

Tojo K et al. (2006) Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation.

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14.

Chao SC et al. () A novel nonsense mutation of the DSRAD gene in a Taiwanese family with dyschromatosis symmetrica hereditaria.

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15.

Xing Q et al. () Novel deletion mutation of DSRAD in a Chinese family with Dyschromatosis Symmetrica Hereditaria (DSH).

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16.

Agranat L et al. (2008) The editing enzyme ADAR1 and the mRNA surveillance protein hUpf1 interact in the cell nucleus.

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17.

Kondo T et al. (2008) Dyschromatosis symmetrica hereditaria associated with neurological disorders.

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18.

Rice GI et al. (2012) Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

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19.

Livingston JH et al. (2014) A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

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20.

Crow YJ et al. (2014) Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

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21.

Liddicoat BJ et al. (2015) RNA editing by ADAR1 prevents MDA5 sensing of endogenous dsRNA as nonself.

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22.

Tan MH et al. (2017) Dynamic landscape and regulation of RNA editing in mammals.

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23.

Ishizuka JJ et al. (2019) Loss of ADAR1 in tumours overcomes resistance to immune checkpoint blockade.

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24.

Bratt E et al. (2003) Coordination of editing and splicing of glutamate receptor pre-mRNA.

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Update: 17. Oktober 2019