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Table 1 Key studies: A-to-I RNA editing and human disease

From: Adenosine-to-inosine RNA editing and human disease

Disease Finding Model Reference(s)
Amyotrophic lateral sclerosis (ALS) Downregulation of ADAR2 expression and GluA2 editing in ALS Human patients [20, 21]
  Conditional ADAR2 knockout produces ALS-like symptoms that are rescued by edited GluA2 In vivo, mice [23]
  Unedited GluA2 causes mislocation of TDP-43 also observed in sporadic ALS In vivo, mice [24]
In vitro, mouse cells
In vitro, human cells
Astrocytoma Correlation between ADAR2 activity and malignancy Pediatric astrocytoma tissue [28]
In vitro, human cells
Constant expression of ADAR2 but upregulation of ADAR1
Overexpression of ADAR2 results in decreased proliferation and mobility
  Influx of Ca2+ results in an activation of the Akt pathway, which is rescued by edited GluA2 In vitro, human cells [29]
  ADAR2 edits CDC14B mRNA, promoting its translation. This leads to degradation of Skp2, which upregulates p21 and p27. This prevents S-phase transition and tumor growth Mouse xenograft [30]
Aicardi-Goutières syndrome (AGS) Novel Adar1 mutations associated with AGS Human patients [53]
Hepatocellular carcinoma (HCC) ADAR1 activity correlated with tumor aggressiveness ADAR1 edits AZIN1, which increases its inhibition of antizyme Human tumor specimens [62]
Mouse xenograft
In vitro, human cells
This upregulates ODC and CCND1, increasing proliferation and mobility
Computational model
Measles virus Biased hypermutation in matrix gene Human patients [71]
  Hypermutation promotes viral infection In vivo, mouse [73]
In vitro, mouse cells
  ADAR1 promotes viral infection In vitro, human cells [74]
Metastatic melanoma Cancer amplifies genes encoding microRNAs that target ADAR1 Mouse xenograft [60]
In vitro, human cells
  This interferes with the regulation of >100 microRNAs and promotes tumorigenicity