ADAR

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Adenosine deaminase, RNA-specific

PDB rendering based on 1qbj.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ADAR ; ADAR1; AGS6; DRADA; DSH; DSRAD; G1P1; IFI-4; IFI4; K88DSRBP; P136
External IDs OMIM146920 MGI1889575 HomoloGene9281 GeneCards: ADAR Gene
EC number 3.5.4.-
RNA expression pattern
PBB GE ADAR 201786 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 103 56417
Ensembl ENSG00000160710 ENSMUSG00000027951
UniProt P55265 Q99MU3
RefSeq (mRNA) NM_001025107 NM_001038587
RefSeq (protein) NP_001020278 NP_001033676
Location (UCSC) Chr 1:
154.55 – 154.6 Mb
Chr 3:
89.72 – 89.75 Mb
PubMed search [1] [2]

Double-stranded RNA-specific adenosine deaminase is an enzyme that in humans is encoded by the ADAR gene (which stands for adenosine deaminase acting on RNA).[1][2]

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double stranded RNA through conversion of adenosine to inosine. ADAR protein is a RNA-binding protein, which functions in RNA-editing through post-transcriptional modification of mRNA transcripts by changing the nucleotide content of the RNA. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria, as well as Aicardi–Goutières syndrome.[3] Alternate transcriptional splice variants, encoding different isoforms, have been characterized.[2]

Model organisms[edit]

Model organisms have been used in the study of ADAR function. A conditional knockout mouse line, called Adartm1a(EUCOMM)Wtsi[8][9] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[6][13] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.[6] Few homozygous mutant embryos were identified during gestation, and none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and no abnormalities were observed in these animals.[6]

See also[edit]

References[edit]

  1. ^ Kim U, Wang Y, Sanford T, Zeng Y, Nishikura K (Dec 1994). "Molecular cloning of cDNA for double-stranded RNA adenosine deaminase, a candidate enzyme for nuclear RNA editing". Proc Natl Acad Sci USA 91 (24): 11457–61. doi:10.1073/pnas.91.24.11457. PMC 45250. PMID 7972084. 
  2. ^ a b "Entrez Gene: ADAR Adenosine Deaminase Acting on RNA". 
  3. ^ Rice, GI, et al (November 2012). "Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.". Nature Genetics 44 (11): 1243–8. PMID 23001123. 
  4. ^ "Salmonella infection data for Adar". Wellcome Trust Sanger Institute. 
  5. ^ "Citrobacter infection data for Adar". Wellcome Trust Sanger Institute. 
  6. ^ a b c d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  7. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  8. ^ "International Knockout Mouse Consortium". 
  9. ^ "Mouse Genome Informatics". 
  10. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  11. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  12. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  13. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]

External links[edit]