Adenosine-to-inosine RNA editing and human disease.

Genome Med 2013 29;5(11):105. Epub 2013 Nov 29.

Department of Gene Expression and Regulation, The Wistar Institute, Spruce Street, Philadelphia, PA 19104-4268, USA.

A-to-I RNA editing is a post-transcriptional modification that converts adenosines to inosines in both coding and noncoding RNA transcripts. It is catalyzed by ADAR (adenosine deaminase acting on RNA) enzymes, which exist throughout the body but are most prevalent in the central nervous system. Inosines exhibit properties that are most similar to those of guanosines. As a result, ADAR-mediated editing can post-transcriptionally alter codons, introduce or remove splice sites, or affect the base pairing of the RNA molecule with itself or with other RNAs. A-to-I editing is a mechanism that regulates and diversifies the transcriptome, but the full biological significance of ADARs is not understood. ADARs are highly conserved across vertebrates and are essential for normal development in mammals. Aberrant ADAR activity has been associated with a wide range of human diseases, including cancer, neurological disorders, metabolic diseases, viral infections and autoimmune disorders. ADARs have been shown to contribute to disease pathologies by editing of glutamate receptors, editing of serotonin receptors, mutations in ADAR genes, and by other mechanisms, including recently identified regulatory roles in microRNA processing. Advances in research into many of these diseases may depend on an improved understanding of the biological functions of ADARs. Here, we review recent studies investigating connections between ADAR-mediated RNA editing and human diseases.

Download full-text PDF

Source
http://genomemedicine.biomedcentral.com/articles/10.1186/gm5
Publisher Site
http://dx.doi.org/10.1186/gm508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3979043PMC
June 2014
23 Reads

Publication Analysis

Top Keywords

rna editing
12
editing human
8
human diseases
8
editing
7
rna
5
aberrant adar
4
adar activity
4
activity associated
4
normal development
4
vertebrates essential
4
essential normal
4
associated wide
4
development mammals
4
mammals aberrant
4
diseases
4
cancer neurological
4
neurological disorders
4
disorders metabolic
4
including cancer
4
diseases including
4

References

(Supplied by CrossRef)

Similar Publications