ADAR RNA editing in human disease; more to it than meets the I

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F17%3A00097698" target="_blank" >RIV/00216224:14740/17:00097698 - isvavai.cz</a>

Result on the web

<a href="https://link.springer.com/article/10.1007%2Fs00439-017-1837-0" target="_blank" >https://link.springer.com/article/10.1007%2Fs00439-017-1837-0</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00439-017-1837-0" target="_blank" >10.1007/s00439-017-1837-0</a>

Result language

angličtina

Original language name

ADAR RNA editing in human disease; more to it than meets the I

Original language description

We review the structures and functions of ADARs and their involvements in human diseases. ADAR1 is widely expressed, particularly in the myeloid component of the blood system, and plays a prominent role in promiscuous editing of long dsRNA. Missense mutations that change ADAR1 residues and reduce RNA editing activity cause Aicardi-GoutiSres Syndrome, a childhood encephalitis and interferonopathy that mimics viral infection and resembles an extreme form of Systemic Lupus Erythmatosus (SLE). In Adar1 mouse mutant models aberrant interferon expression is prevented by eliminating interferon activation signaling from cytoplasmic dsRNA sensors, indicating that unedited cytoplasmic dsRNA drives the immune induction. On the other hand, upregulation of ADAR1 with widespread promiscuous RNA editing is a prominent feature of many cancers and particular site-specific RNA editing events are also affected. ADAR2 is most highly expressed in brain and is primarily required for site-specific editing of CNS transcripts; recent findings indicate that ADAR2 editing is regulated by neuronal excitation for synaptic scaling of glutamate receptors. ADAR2 is also linked to the circadian clock and to sleep. Mutations in ADAR2 could contribute to excitability syndromes such as epilepsy, to seizures, to diseases involving neuronal plasticity defects, such as autism and Fragile-X Syndrome, to neurodegenerations such as ALS, or to astrocytomas or glioblastomas in which reduced ADAR2 activity is required for oncogenic cell behavior. The range of human disease associated with ADAR1 mutations may extend further to include other inflammatory conditions while ADAR2 mutations may affect psychiatric conditions.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10603 - Genetics and heredity (medical genetics to be 3)

Project

—

Continuities

R - Projekt Ramcoveho programu EK

Publication year

2017

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Human Genetics

ISSN

0340-6717

e-ISSN

—

Volume of the periodical

136

Issue of the periodical within the volume

9

Country of publishing house

US - UNITED STATES

Number of pages

14

Pages from-to

1265-1278

UT code for WoS article

000410757000016

EID of the result in the Scopus database

2-s2.0-85029509992