Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2

@article{Higuchi2000PointMI,
  title={Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2},
  author={Miyoko Higuchi and Stefan Maas and Frank N. Single and Jochen C. Hartner and Andrei Rozov and Nail Burnashev and Dirk Feldmeyer and Rolf Sprengel and P. H. Seeburg},
  journal={Nature},
  year={2000},
  volume={406},
  pages={78-81}
}
RNA editing by site-selective deamination of adenosine to inosine alters codons and splicing in nuclear transcripts, and therefore protein function. ADAR2 (refs 7, 8) is a candidate mammalian editing enzyme that is widely expressed in brain and other tissues, but its RNA substrates are unknown. Here we have studied ADAR2-mediated RNA editing by generating mice that are homozygous for a targeted functional null allele. Editing in ADAR2-/- mice was substantially reduced at most of 25 positions in… 

Requirement of the RNA-editing Enzyme ADAR2 for Normal Physiology in Mice*

TLDR
Extended phenotypic analysis covering ∼320 parameters identified significant changes related to absence of ADAR2 in behavior, hearing ability, allergy parameters and transcript profiles of brain.

The ADAR RNA editing enzyme controls neuronal excitability in Drosophila melanogaster

TLDR
It is demonstrated that neuronal excitability is linked to dADAR expression levels in individual neurons; Adar-overexpressing larval motor neurons show reduced excitability whereas Adar5G1 null mutant or targeted Adar knockdown motor neurons exhibit increased excitability.

Altered RNA Editing in Mice Lacking ADAR2 Autoregulation

TLDR
It is demonstrated that ADAR2 autoediting and subsequent alternative splicing are abolished in homozygous ΔECS mice and that ADar2 protein expression is increased in numerous tissues compared to wild-type animals, indicating thatADAR2Autoediting is a key regulator of ADAR1 protein expression and activity in vivo.

Glutamate receptor RNA editing in health and disease

TLDR
Overall, these data indicate that a highly regulated process of glutamate receptor editing is of key importance in the proper function of neuronal cells and in their ability to adapt and modulate synaptic function.

ADAR2 affects mRNA coding sequence edits with only modest effects on gene expression or splicing in vivo

TLDR
This work illustrates that ADAR2 is important in site-specific changes of protein coding sequences but has relatively modest effects on gene expression and splicing in the adult mouse frontal cortex.

Tuning of RNA editing by ADAR is required in Drosophila

TLDR
It is shown that editing restricts ADAR function since the edited isoform of ADAR is less active in vitro and in vivo than the genome‐encoded, unedited isoform.

RNA editing in regulating gene expression in the brain.

Stress-induced Apoptosis Associated with Null Mutation of ADAR1 RNA Editing Deaminase Gene*

TLDR
The results demonstrate an essential requirement for ADAR1 in embryogenesis and suggest that it functions to promote survival of numerous tissues by editing one or more double-stranded RNAs required for protection against stress-induced apoptosis.

Regulation of glutamate receptor B pre-mRNA splicing by RNA editing

TLDR
By comparing the events at the Q/R and R/G sites, it is shown that editing can both stimulate and repress splicing efficiency, and that only properly edited mRNAs become spliced and exported to the cytoplasm.
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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