2006
DOI: 10.4161/rna.3.1.2495
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A-to-I RNA Editing and Human Disease

Abstract: The post-transcriptional modification of mammalian transcripts by A-to-I RNA editing has been recognized as an important mechanism for the generation of molecular diversity and also regulates protein function through recoding of genomic information. As the molecular players of editing are characterized and an increasing number of genes become identified that are subject to A-to-I modification, the potential impact of editing on the etiology or progression of human diseases is realized. Here we review the recen… Show more

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Cited by 246 publications
(214 citation statements)
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References 106 publications
(160 reference statements)
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“…Human diseases or pathophysiologies can also be caused by dysfunction of the A→I RNA editing mechanism 63,64 . Heterozygosity for the ADAR1-gene functional-null mutation results in dyschromatosis symmetrica hereditaria, a human pigmentary genodermatosis of autosomaldominant inheritance 65 .…”
Section: Rna-editing Deficienciesmentioning
confidence: 99%
See 1 more Smart Citation
“…Human diseases or pathophysiologies can also be caused by dysfunction of the A→I RNA editing mechanism 63,64 . Heterozygosity for the ADAR1-gene functional-null mutation results in dyschromatosis symmetrica hereditaria, a human pigmentary genodermatosis of autosomaldominant inheritance 65 .…”
Section: Rna-editing Deficienciesmentioning
confidence: 99%
“…3a). Last, the inactivation of ADAR1 leads to an embryonic lethal phenotype that is caused by defective erythropoiesis and widespread apoptosis [60][61][62] .Human diseases or pathophysiologies can also be caused by dysfunction of the A→I RNA editing mechanism 63,64 . Heterozygosity for the ADAR1-gene functional-null mutation results in dyschromatosis symmetrica hereditaria, a human pigmentary genodermatosis of autosomaldominant inheritance 65 .…”
mentioning
confidence: 99%
“…the R/G and Q/R editing sites [9,18,19]. These two sites are edited with a high specificity and reduction of editing efficiency at these sites leads to dramatic effects on central nervous system [20,21]. They are therefore often used as model system for studies of editing by ADARs.…”
Section: Introductionmentioning
confidence: 99%
“…A number of pathogenic mutations in ADAR (also known as ADAR1) gene are associated with dyschromatosis symmetrica hereditaria (DSH) (Tojo et al 2006;Keller et al 2008) and Aicardi-Goutieres syndrome (AGS) (Rice et al 2012). In addition, a lack of A-to-I editing has been associated with several neurological disorders (Maas et al 2006), including malignant gliomas (Maas et al 2001) and amyotrophic lateral sclerosis (ALS) (Kawahara et al 2008). The functional importance of A-to-I editing is also indicated by the fact that both ADAR and ADARB1 (also known as ADAR2) are essential enzymes in mouse (Higuchi et al 2000;Wang et al 2000).…”
mentioning
confidence: 99%