Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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16.

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

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17.

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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18.

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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19.

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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20.

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

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21.

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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22.

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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23.

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

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24.

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

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Update: 14. August 2020
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