Repeat Associated non-AUG translation (RAN Translation) dependent on sequence downstream of the ATXN2 CAG repeat

PLoS ONE

Volumn 10, Issue 6, 2015, Pages

  Scoles, Daniel R ^a   Ho, Mi H T ^a   Dansithong, Warunee ^a   Pflieger, Lance T ^a   Petersen, Lance W ^a   Thai, Khanh K ^a   Pulst, Stefan M ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

POLYGLUTAMINE; ATAXIN 2; ATXN2 PROTEIN, HUMAN; LUCIFERASE;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; ATXN2 GENE; CAG REPEAT; CONTROLLED STUDY; DOWN REGULATION; GENE MUTATION; GENE PRODUCT; GENE SEQUENCE; GENETIC TRANSCRIPTION AND TRANSLATION; MOLECULAR CLONING; MUTATOR GENE; PLASMID; PROMOTER REGION; REPEAT ASSOCIATED NON AUG TRANSLATION; START CODON; UPREGULATION; GENETICS; HEK293 CELL LINE; HUMAN; METABOLISM; PHYSIOLOGY; REAL TIME POLYMERASE CHAIN REACTION; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

ATAXIN-2; HEK293 CELLS; HUMANS; LUCIFERASES; PROMOTER REGIONS, GENETIC; REAL-TIME POLYMERASE CHAIN REACTION; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 84938145847     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0128769     Document Type: Article

References (33)

1. Fernandez M, McClain ME, Martinez RA, Snow K, Lipe H, Ravits J, et al. (2000) Late-onset SCA2: 33 CAG repeats are sufficient to cause disease. Neurology 55: 569-572. PMID: 10953195.
2. Figueroa KP, Pulst SM (2003) Identification and expression of the gene for human ataxin-2-related protein on chromosome 16. Exp Neurol 184: 669-678. PMID: 14769358.
3. Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, et al. (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14: 269-276. PMID: 8896555.
4. Scoles DR, Pflieger LT, Thai KK, Hansen ST, Dansithong W, Pulst SM (2012) ETS1 regulates the expression of ATXN2. Hum Mol Genet 21: 5048-5065. doi:10.1093/hmg/dds349 PMID: 22914732.
5. Ragothaman M, Sarangmath N, Chaudhary S, Khare V, Mittal U, Sharma S, et al. (2004) Complex phenotypes in an Indian family with homozygous SCA2 mutations. Ann Neurol 55: 130-133. PMID: 14705123.
6. Huynh DP, Figueroa K, Hoang N, Pulst SM (2000) Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat Genet 26: 44-50. PMID: 10973246.
7. Yamamoto A, Lucas JJ, Hen R (2000) Reversal of neuropathology and motor dysfunction in a conditional model of Huntington's disease. Cell 101: 57-66. PMID: 10778856.
8. Zu T, Duvick LA, Kaytor MD, Berlinger MS, Zoghbi HY, Clark HB, et al. (2004) Recovery from polyglutamine- induced neurodegeneration in conditional SCA1 transgenic mice. J Neurosci 24: 8853-8861. PMID: 15470152.
9. Boy J, Schmidt T, Wolburg H, Mack A, Nuber S, Bottcher M, et al. (2009) Reversibility of symptoms in a conditional mouse model of spinocerebellar ataxia type 3. Hum Mol Genet 18: 4282-4295. doi:10.1093/hmg/ddp381 PMID: 19666958.
10. Alves S, Nascimento-Ferreira I, Dufour N, Hassig R, Auregan G, Nobrega C, et al. (2010) Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: No role for wild-type ataxin- 3? Hum Mol Genet 19: 2380-2394. doi:10.1093/hmg/ddq111 PMID: 20308049.
11. Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, et al. (2011) Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A 108: 260-265. doi:10.1073/pnas.1013343108PMID: 21173221.
12. Pearson CE (2011) Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! PLoS Genet 7: E1002018. doi:10.1371/journal.pgen.1002018PMID: 21423665.
13. Lashley T, Hardy J, Isaacs AM (2013) RANTing about C9orf72. Neuron 77: 597-598. doi:10.1016/j.neuron.2013.02.009 PMID: 23439112.
14. Taylor JP (2013) Neuroscience. RNA that gets RAN in neurodegeneration. Science 339: 1282-1283. doi:10.1126/science.1236450 PMID: 23493702.
15. Belzil VV, Gendron TF, Petrucelli L (2012) RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci.
16. Renoux AJ, Todd PK (2012) Neurodegeneration the RNA way. Prog Neurobiol 97: 173-189. doi:10.1016/j.pneurobio.2011.10.006 PMID: 22079416.
17. Echeverria GV, Cooper TA (2012) RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity. Brain Res 1462: 100-111. doi:10.1016/j.brainres.2012.02.030 PMID: 22405728.
18. Reddy K, Pearson CE (2013) RAN Translation: Fragile X in the Running. Neuron 78: 405-408. doi:10.1016/j.neuron.2013.04.034 PMID: 23664607.
19. Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, et al. (2013) RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci U S A 110: E4968-E4977. doi:10.1073/pnas.1315438110 PMID: 24248382.
20. Todd PK, Oh SY, Krans A, He F, Sellier C, Frazer M, et al. (2013) CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron 78: 440-455. doi:10.1016/j.neuron.2013.03.026 PMID: 23602499.
21. Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, et al. (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77: 639-646. doi:10.1016/j.neuron.2013.02.004 PMID: 23415312.
22. Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, et al. (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339: 1335-1338. doi:10.1126/science.1232927 PMID: 23393093.
23. Peabody DS (1989) Translation initiation at non-AUG triplets in mammalian cells. J Biol Chem 264: 5031-5035. PMID: 2538469.
24. Ingolia NT, Ghaemmaghami S, Newman JR, Weissman JS (2009) Genome-wide analysis in vivo of translation with nucleotide resolution using ribosome profiling. Science 324: 218-223. doi:10.1126/science.1168978PMID: 19213877.
25. Touriol C, Bornes S, Bonnal S, Audigier S, Prats H, Prats AC, et al. (2003) Generation of protein isoform diversity by alternative initiation of translation at non-AUG codons. Biol Cell 95: 169-178. PMID: 12867081.
26. Chang KJ, Wang CC (2004) Translation initiation from a naturally occurring non-AUG codon in Saccharomyces cerevisiae. J Biol Chem 279: 13778-13785. PMID: 14734560.
27. Tang HL, Yeh LS, Chen NK, Ripmaster T, Schimmel P, Wang CC (2004) Translation of a yeast mitochondrial tRNA synthetase initiated at redundant non-AUG codons. J Biol Chem 279: 49656-49663. PMID: 15358761.
28. Hann SR, King MW, Bentley DL, Anderson CW, Eisenman RN (1988) A non-AUG translational initiation in c-myc exon 1 generates an N-terminally distinct protein whose synthesis is disrupted in Burkitt's lymphomas. Cell 52: 185-195. PMID: 3277717.
29. Lee S, Liu B, Lee S, Huang SX, Shen B, Qian SB (2012) Global mapping of translation initiation sites in mammalian cells at single-nucleotide resolution. Proc Natl Acad Sci U S A 109: E2424-E2432. doi:10.1073/pnas.1207846109 PMID: 22927429.
30. Toulouse A, Au-Yeung F, Gaspar C, Roussel J, Dion P, Rouleau GA (2005) Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts. Hum Mol Genet 14: 2649-2660. PMID: 16087686.
31. Reddy K, Zamiri B, Stanley SY, Macgregor RB Jr., Pearson CE (2013) The Disease-associated r (GGGGCC)n Repeat from the C9orf72 Gene Forms Tract Length-dependent Uni- And Multimolecular RNA G-quadruplex Structures. J Biol Chem 288: 9860-9866. doi:10.1074/jbc.C113.452532 PMID: 23423380.
32. Gacy AM, Goellner G, Juranic N, Macura S, McMurray CT (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81: 533-540. PMID: 7758107.
33. Wan Y, Qu K, Zhang QC, Flynn RA, Manor O, Ouyang Z, et al. (2014) Landscape and variation of RNA secondary structure across the human transcriptome. Nature 505: 706-709. doi:10.1038/nature12946PMID: 24476892.