Correction of mutations within the cystic fibrosis transmembrane conductance regulator by site-directed RNA editing

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 45, 2013, Pages 18285-18290

  Montiel Gonzalez, Maria Fernanda ^a,b   Vallecillo Viejo, Isabel ^a,b   Yudowski, Guillermo A ^a   Rosenthal, Joshua J C ^a,b  

^a UNIVERSITY OF PUERTO RICO   (Puerto Rico)

^b Department of Biochemistry ^*  (Puerto Rico)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ADENOSINE DEAMINASE; COMPLEMENTARY RNA; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; ENHANCED GREEN FLUORESCENT PROTEIN; MESSENGER RNA; POTASSIUM CHANNEL KV1.2; RNA BINDING PROTEIN;

ANIMAL CELL; ARTICLE; BACTERIOPHAGE LAMBDA; BINDING AFFINITY; CELL MEMBRANE; CONTROLLED STUDY; DEAMINATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; IN VITRO STUDY; NONHUMAN; OOCYTE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; RNA EDITING; SITE DIRECTED RNA EDITING; STOP CODON; WILD TYPE; XENOPUS;

ADENOSINE DEAMINASE; ANIMALS; BASE SEQUENCE; BLOTTING, WESTERN; CODON, NONSENSE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FLUORESCENCE; GENETIC ENGINEERING; GREEN FLUORESCENT PROTEINS; HEK293 CELLS; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION; OLIGONUCLEOTIDES; RNA EDITING; XENOPUS;

EID: 84887300101     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1306243110     Document Type: Article

References (38)

1. Bass BL, Weintraub H (1987) A developmentally regulated activity that unwinds RNA duplexes. Cell 48(4):607-613.
2. Bass BL, Weintraub H (1988) An unwinding activity that covalently modifies its double- stranded RNA substrate. Cell 55(6):1089-1098.
3. Kim U, Wang Y, Sanford T, Zeng Y, Nishikura K (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):11457-11461.
4. Melcher T, et al. (1996) A mammalian RNA editing enzyme. Nature 379(6564): 460-464.
5. O'Connell MA, Gerber A, Keegan LP (1998) Purification of native and recombinant double-stranded RNA-specific adenosine deaminases. Methods 15(1):51-62.
6. O'Connell MA, Gerber A, Keller W (1997) Purification of human double-stranded RNA-specific editase 1 (hRED1) involved in editing of brain glutamate receptor B premRNA. J Biol Chem 272(1):473-478.
7. Basilio C, Wahba AJ, Lengyel P, Speyer JF, Ochoa S (1962) Synthetic polynucleotides and the amino acid code, V. Proc Natl Acad Sci USA 48(4):613-616.
8. Rosenthal JJ, Seeburg PH (2012) A-to-I RNA editing: Effects on proteins key to neural excitability. Neuron 74(3):432-439.
9. Bhalla T, Rosenthal JJ, Holmgren M, Reenan R (2004) Control of human potassium channel inactivation by editing of a small mRNA hairpin. Nat Struct Mol Biol 11(10): 950-956.
10. Burns CM, et al. (1997) Regulation of serotonin-2C receptor G-protein coupling by RNA editing. Nature 387(6630):303-308.
11. Colina C, Palavicini JP, Srikumar D, Holmgren M, Rosenthal JJ (2010) Regulation of Na+/K+ ATPase transport velocity by RNA editing. PLoS Biol 8(11):e1000540.
12. Sommer B, Köhler M, Sprengel R, Seeburg PH (1991) RNA editing in brain controls a determinant of ion flow in glutamate-gated channels. Cell 67(1):11-19.
13. Nishikura K (2010) Functions and regulation of RNA editing by ADAR deaminases. Annu Rev Biochem 79:321-349.
14. Herb A, Higuchi M, Sprengel R, Seeburg PH (1996) Q/R site editing in kainate receptor GluR5 and GluR6 pre-mRNAs requires distant intronic sequences. Proc Natl Acad Sci USA 93(5):1875-1880.
15. Higuchi M, et al. (1993) RNA editing of AMPA receptor subunit GluR-B: A base-paired intron-exon structure determines position and efficiency. Cell 75(7):1361-1370.
16. Macbeth MR, et al. (2005) Inositol hexakisphosphate is bound in the ADAR2 core and required for RNA editing. Science 309(5740):1534-1539.
17. Chattopadhyay S, Garcia-Mena J, DeVito J, Wolska K, Das A (1995) Bipartite function of a small RNA hairpin in transcription antitermination in bacteriophage lambda. Proc Natl Acad Sci USA 92(9):4061-4065.
18. Austin RJ, Xia T, Ren J, Takahashi TT, Roberts RW (2002) Designed arginine-rich RNAbinding peptides with picomolar affinity. J Am Chem Soc 124(37):10966-10967.
19. Keegan LP, Rosenthal JJ, Roberson LM, O'Connell MA (2007) Purification and assay of ADAR activity. Methods Enzymol 424:301-317.
20. Palavicini JP, O'Connell MA, Rosenthal JJ (2009) An extra double-stranded RNA binding domain confers high activity to a squid RNA editing enzyme. RNA 15(6): 1208-1218.
21. Gehring NH, et al. (2005) Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements. Mol Cell 20(1):65-75.
22. Cilley CD, Williamson JR (1997) Analysis of bacteriophage N protein and peptide binding to boxB RNA using polyacrylamide gel coelectrophoresis (PACE). RNA 3(1): 57-67.
23. Tan R, Frankel AD (1995) Structural variety of arginine-rich RNA-binding peptides. Proc Natl Acad Sci USA 92(12):5282-5286.
24. Balassopoulou A, Papadakis M, Loukopoulos D (1994) A novel nonsense mutation identified in the first nucleotide binding fold of the CFTR gene in a Greek patient. Hum Mol Genet 3(10):1887-1888.
25. Egan M, et al. (1992) Defective regulation of outwardly rectifying Cl- channels by protein kinase A corrected by insertion of CFTR. Nature 358(6387):581-584.
26. Bear CE, et al. (1991) Cl- channel activity in Xenopus oocytes expressing the cystic fibrosis gene. J Biol Chem 266(29):19142-19145.
27. Gregory RJ, et al. (1990) Expression and characterization of the cystic fibrosis transmembrane conductance regulator. Nature 347(6291):382-386.
28. Cheng SH, et al. (1990) Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63(4):827-834.
29. Gribble FM, et al. (2000) A novel method for measurement of submembrane ATP concentration. J Biol Chem 275(39):30046-30049.
30. Venglarik CJ, Schultz BD, Frizzell RA, Bridges RJ (1994) ATP alters current fluctuations of cystic fibrosis transmembrane conductance regulator: Evidence for a three-state activation mechanism. J Gen Physiol 104(1):123-146.
31. Peters SU, et al. (2013) The behavioral phenotype in MECP2 duplication syndrome: A comparison with idiopathic autism. Autism Res 6(1):42-50.
32. Karijolich J, Yu YT (2011) Converting nonsense codons into sense codons by targeted pseudouridylation. Nature 474(7351):395-398.
33. Woolf TM, Chase JM, Stinchcomb DT (1995) Toward the therapeutic editing of mutated RNA sequences. Proc Natl Acad Sci USA 92(18):8298-8302.
34. Stafforst T, Schneider MF (2012) An RNA-deaminase conjugate selectively repairs point mutations. Angew Chem Int Ed Engl 51(44):11166-11169.
35. Lehmann KA, Bass BL (2000) Double-stranded RNA adenosine deaminases ADAR1 and ADAR2 have overlapping specificities. Biochemistry 39(42):12875-12884.
36. Schwarz MJ, et al. (1995) Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories. Hum Mutat 6(4):326-333.
37. Eggington JM, Greene T, Bass BL (2011) Predicting sites of ADAR editing in doublestranded RNA. Nat Commun 2:319.
38. Rinkevich FD, Schweitzer PA, Scott JG (2012) Antisense sequencing improves the accuracy and precision of A-to-I editing measurements using the peak height ratio method. BMC Res Notes 5:63.