Newly identified ADAR-mediated A-to-I editing positions as a tool for ALS research

RNA Biology

Volumn 5, Issue 4, 2008, Pages 193-197

  Kwak, Shin ^a   Nishimoto, Yoshinori ^a,b   Yamashita, Takenari ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b KEIO UNIVERSITY   (Japan)

Author keywords

ADAR; ALS; Cell death; Glur2; RNA editing

Indexed keywords

ADENOSINE; ADENOSINE DEAMINASE; ADENOSINE DEAMINASE ACTING ON RNA; ADENOSINE DEAMINASE ACTING ON RNA 2; AMPA RECEPTOR; INOSINE; MESSENGER RNA; RNA; UNCLASSIFIED DRUG;

AMYOTROPHIC LATERAL SCLEROSIS; BRAIN CORTEX; CELL TYPE; CENTRAL NERVOUS SYSTEM; CEREBELLUM; ENZYME ACTIVITY; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; GLIA CELL; HIPPOCAMPUS; HUMAN; IMMUNOPRECIPITATION; MEDICAL RESEARCH; MISSENSE MUTATION; MOTONEURON; NERVE CELL; NONHUMAN; PATHOGENESIS; PROTEIN EXPRESSION; PURKINJE CELL; PYRAMIDAL NERVE CELL; REVIEW; RNA EDITING; RNA INTERFERENCE; SURVIVAL; UPREGULATION;

MAMMALIA;

EID: 57349192059     PISSN: 15476286     EISSN: 15558584     Source Type: Journal    
DOI: 10.4161/rna.6925     Document Type: Review

References (78)

1. Bass BL. RNA editing by adenosine deaminases that act on RNA. Annu Rev Biochem 2002; 71:817-46.
2. Nishikura K. Editor meets silencer: crosstalk between RNA editing and RNA interference. Nat Rev Mol Cell Biol 2006; 7:919-31.
3. Reenan RA. The RNA world meets behavior: A→I pre-mRNA editing in animals. Trends Genet 2001; 17:53-6.
4. Kawahara Y, et al. Redirection of silencing targets by adenosine-to-inosine editing of miRNAs. Science 2007; 315:1137-40.
5. Seeburg PH. A-to-I editing: new and old sites, functions and speculations. Neuron 2002; 35:17-20.
6. Wang Q, Khillan J, Gadue P and Nishikura K. Requirement of the RNA editing deaminase ADAR1 gene for embryonic erythropoiesis. Science 2000; 290:1765-8.
7. Mittaz L, et al. Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. Genomics 1997; 41:210-7.
8. Gerber A, O'Connell M and W K. Two forms of human double-stranded RNA-specific editase 1 (hRED1) generated by the insertion of an Alu cassette. Rna 1997; 3:453-63.
9. Lai F, Chen C, Carter K and Nishikura K. Editing of glutamate receptor B subunit ion channel RNAs by four alternatively spliced DRADA2 double-stranded RNA adenosine deaminases. Mol Cell Biol 1997; 17:2413-24.
10. Nishimoto Y, et al. Determination of editors at the novel A-to-I editing positions. Neurosci Res 2008; 61:201-6.
11. Feng Y, Sansam CL, Singh M and Emeson RB. Altered RNA editing in mice lacking ADAR2 autoregulation. Mol Cell Biol 2006; 26:480-8.
12. Kawahara Y, Ito K, Ito M, Tsuji S and Kwak S. Novel splice variants of human ADAR2 mRNA: Skipping of the exon encoding the dsRNA-binding domains, and multiple C-terminal splice sites. Gene 2005; 363:193-201.
13. Hartner JC, et al. Liver disintegration in the mouse embryo caused by deficiency in the RNA-editing enzyme ADAR1. J Biol Chem 2004; 279:4894-902.
14. Wang Q, et al. Stress-induced apoptosis associated with null mutation of ADAR1 RNA editing deaminase gene. J Biol Chem 2004; 279:4952-61.
15. Higuchi M, et al. Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2. Nature 2000; 406:78-81.
16. Gurevich I, et al. Altered editing of serotonin 2C receptor pre-mRNA in the prefrontal cortex of depressed suicide victims. Neuron 2002; 34:349-56.
17. Iwamoto K, Nakatani N, Bundo M, Yoshikawa T and Kato T. Altered RNA editing of serotonin 2C receptor in a rat model of depression. Neurosci Res 2005; 53:69-76.
18. Kawahara Y, Ito K, Sun H, Kanazawa I and Kwak S. Low editing efficiency of GluR2 mRNA is associated with a low relative abundance of ADAR2 mRNA in white matter of normal human brain. Eur J Neurosci 2003; 18:23-33.
19. Niswender CM, et al. RNA editing of the human serotonin 5-HT2C receptor. alterations in suicide and implications for serotonergic pharmacotherapy. Neuropsychopharmacology 2001; 24:478-91.
20. Kwak S and Kawahara Y. Deficient RNA editing of GluR2 and neuronal death in amyotropic lateral sclerosis. J Mol Med 2005; 83:110-20.
21. Akbarian S, Smith M and Jones E. Editing for an AMPA receptor subunit RNA in prefrontal cortex and striatum in Alzheimer's disease, Huntington's disease and schizophrenia. Brain Res 1995; 699:297-304.
22. Nutt S and Kamboj R. Differential RNA editing efficiency of AMPA receptor subunit GluR-2 in human brain. NeuroReport 1994; 5:1679-83.
23. Nutt S and Kamboj R. RNA editing of human kainate receptor subunits. NeuroReport 1994; 5:2625-9.
24. Paschen W, Hedreen J and Ross C. RNA editing of the glutamate receptor subunits GluR2 and GluR6 in human brain tissue. J Neurochem 1994; 63:1596-602.
25. Takuma H, Kwak S, Yoshizawa T and Kanazawa I. Reduction of GluR2 RNA editing, a molecular change that increases calcium influx through AMPA receptors, selective in the spinal ventral gray of patients with amyotrophic lateral sclerosis. Ann Neurol 1999; 46:806-15.
26. Riedmann EM, Schopoff S, Hartner JC and Jantsch MF. Specificity of ADAR-mediated RNA editing in newly identified targets. Rna 2008; 14:1110-8.
27. Melcher T, et al. RED2, a brain-specific member of the RNA-specific adenosine deaminase family. J Biol Chem 1996; 271:31795-8.
28. Chen CX, et al. A third member of the RNA-specific adenosine deaminase gene family, ADAR3, contains both single- and double-stranded RNA binding domains. Rna 2000; 6:755-67.
29. Schmauss C. Serotonin 2C receptors: suicide, serotonin and runaway RNA editing. Neuroscientist 2003; 9:237-42.
30. Iwamoto K and Kato T. RNA editing of serotonin 2C receptor in human postmortem brains of major mental disorders. Neurosci Lett 2003; 346:169-72.
31. Dracheva S, et al. Increased serotonin 2C receptor mRNA editing: a possible risk factor for suicide. Mol Psychiatry 2007.
32. Bhansali P, Dunning J, Singer SE, David L and Schmauss C. Early life stress alters adult serotonin 2C receptor pre-mRNA editing and expression of the alpha subunit of the heterotrimeric G-protein G q. J Neurosci 2007; 27:1467-73.
33. Englander MT, Dulawa SC, Bhansali P and Schmauss C. How stress and fluoxetine modulate serotonin 2C receptor pre-mRNA editing. J Neurosci 2005; 25:648-51.
34. Brusa R, et al. Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice. Science 1995; 270:1677-80.
35. Vissel B, et al. The role of RNA editing of kainate receptors in synaptic plasticity and seizures. Neuron 2001; 29:217-27.
36. Grigorenko EV, Bell WL, Glazier S, Pons T and Deadwyler S. Editing status at the Q/R site of the GluR2 and GluR6 glutamate receptor subunits in the surgically excised hippocampus of patients with refractory epilepsy. NeuroReport 1998; 9:2219-24.
37. Kortenbruck G, Berger E, Speckmann EJ and Musshoff U. RNA editing at the Q/R site for the glutamate receptor subunits GLUR2, GLUR5 and GLUR6 in hippocampus and temporal cortex from epileptic patients. Neurobiol Dis 2001; 8:459-68.
38. Miyamura Y, et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003; 73:693-9.
39. Kawahara Y, et al. Glutamate receptors: RNA editing and death of motor neurons. Nature 2004; 427:801.
40. Kuner R, et al. Late-onset motoneuron disease caused by a functionally modified AMPA receptor subunit. Proc Natl Acad Sci USA 2005; 102:5826-31.
41. Feldmeyer D, et al. Neurological dysfunctions in mice expressing different levels of the Q/R site-unedited AMPAR subunit GluR-B. Nat Neurosci 1999; 2:57-64.
42. Van Damme P, Braeken D, Callewaert G, Robberecht W and Van Den Bosch L. GluR2 deficiency accelerates motor neuron degeneration in a mouse model of amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 2005; 64:605-12.
43. Tateno M, et al. Calcium-permeable AMPA receptors promote misfolding of mutant SOD1 protein and development of amyotrophic lateral sclerosis in a transgenic mouse model. Hum Mol Genet 2004; 13:2183-96.
44. Kawahara Y, et al. Underediting of GluR2 mRNA, a neuronal death inducing molecular change in sporadic ALS, does not occur in motor neurons in ALS1 or SBMA. Neurosci Res 2006; 54:11-4.
45. Jia Z, et al. Enhanced LTP in mice deficient in the AMPA receptor GluR2. Neuron 1996; 17:945-56.
46. Kwak S and Weiss JH. Calcium-permeable AMPA channels in neurodegenerative disease and ischemia. Curr Opin Neurobiol 2006; 16:281-7.
47. 2+-permeability. Mol Cell Neurosci 2007; 35:470-81.
48. Greger IH, Khatri L and Ziff EB. RNA editing at arg607 controls AMPA receptor exit from the endoplasmic reticulum. Neuron 2002; 34:759-72.
49. Burns CM, et al. Regulation of serotonin-2C receptor G-protein coupling by RNA editing. Nature 1997; 387:303-8.
50. Hoopengardner B, Bhalla T, Staber C and Reenan R. Nervous system targets of RNA editing identified by comparative genomics. Science 2003; 301:832-6.
51. Rueter SM, Dawson TR and Emeson RB. Regulation of alternative splicing by RNA editing. Nature 1999; 399:75-80.
52. Peng PL, et al. ADAR2-dependent RNA editing of AMPA receptor subunit GluR2 determines vulnerability of neurons in forebrain ischemia. Neuron 2006; 49:719-33.
53. Kwak S, et al. Development of a mouse model of sporadic ALS by deficient RNA editing. Neurosci Res 2007; 58 (Supple):S119.
54. Kawahara Y and Kwak S. Excitotoxicity and ALS: what is unique about the AMPA receptors expressed on spinal motor neurons? Amyotroph Lateral Scler Other Motor Neuron Disord 2005; 6:131-44.
55. Levanon EY, et al. Evolutionarily conserved human targets of adenosine to inosine RNA editing. Nucleic Acids Res 2005; 33:1162-8.
56. Desterro JM, et al. Dynamic association of RNA-editing enzymes with the nucleolus. J Cell Sci 2003; 116:1805-18.
57. Poulsen H, Nilsson J, Damgaard CK, Egebjerg J and Kjems J. CRM1 mediates the export of ADAR1 through a nuclear export signal within the Z-DNA binding domain. Mol Cell Biol 2001; 21:7862-71.
58. Sansam CL, Wells KS and Emeson RB. Modulation of RNA editing by functional nucleolar sequestration of ADAR2. Proc Natl Acad Sci USA 2003; 100:14018-23.
59. Macbeth MR, et al. Inositol hexakisphosphate is bound in the ADAR2 core and required for RNA editing. Science 2005; 309:1534-9.
60. Gan Z, et al. RNA editing by ADAR2 is metabolically regulated in pancreatic islets and beta-cells. J Biol Chem 2006; 281:33386-94.
61. Maas S, Patt S, Schrey M and Rich A. Underediting of glutamate receptor GluR-B mRNA in malignant gliomas. Proc Natl Acad Sci USA 2001; 98:14687-92.
62. Cenci C, et al. Downregulation of RNA Editing in Pediatric Astrocytomas: ADAR2 editing activity inhibits cell migration and proliferation. J Biol Chem 2008; 283:7251-60.
63. Cho DS, et al. Requirement of dimerization for RNA editing activity of adenosine deaminases acting on RNA. J Biol Chem 2003; 278:17093-102.
64. Gallo A, Keegan LP, Ring GM and O'Connell MA. An ADAR that edits transcripts encoding ion channel subunits functions as a dimer. Embo J 2003; 22:3421-30.
65. Ayala YM, et al. Human, Drosophila and C. elegans TDP43: nucleic acid binding properties and splicing regulatory function. J Mol Biol 2005; 348:575-88.
66. Buratti E, Brindisi A, Pagani F and Baralle FE. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am J Hum Genet 2004; 74:1322-5.
67. Buratti E, et al. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. Embo J 2001; 20:1774-84.
68. Ayala YM, Pagani F and Baralle FE. TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett 2006; 580:1339-44.
69. Mercado PA, Ayala YM, Romano M, Buratti E and Baralle FE. Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene. Nucleic Acids Res 2005; 33:6000-10.
70. Arai T, et al. TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun 2006; 351:602-11.
71. Neumann M, et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006; 314:130-3.
72. Mackenzie IR, et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann Neurol 2007; 61:427-34.
73. Tan CF, et al. TDP-43 immunoreactivity in neuronal inclusions in familial amyotrophic lateral sclerosis with or without SOD1 gene mutation. Acta Neuropathol (Berl) 2007; 113:535-42.
74. Yokoseki A, et al. TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol 2008; 63:538-42.
75. Van Deerlin VM, et al. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 2008; 7:409-16.
76. Kabashi E, et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008; 40:572-4.
77. Sreedharan J, et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008; 319:1668-72.
78. Gitcho MA, et al. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 2008; 63:535-8.