Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56–65. doi:10.1038/nature11632
Article
PubMed
CAS
Google Scholar
Adihe Lokanga R, Zhao XN, Entezam A, Usdin K (2014) X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion. Hum Mol Genet 23:4985–4994. doi:10.1093/hmg/ddu213
Article
CAS
PubMed
PubMed Central
Google Scholar
Akiyama BM, Eiler D, Kieft JS (2016) Structured RNAs that evade or confound exonucleases: function follows form. Curr Opin Struct Biol 36:40–47. doi:10.1016/j.sbi.2015.12.006
Article
CAS
PubMed
PubMed Central
Google Scholar
Amrani N, Ganesan R, Kervestin S, Mangus DA, Ghosh S, Jacobson A (2004) A faux 3'-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay. Nature 432:112–118. doi:10.1038/nature03060
Article
CAS
PubMed
Google Scholar
Anderson JS, Parker RP (1998) The 3' to 5' degradation of yeast mRNAs is a general mechanism for mRNA turnover that requires the SKI2 DEVH box protein and 3' to 5' exonucleases of the exosome complex. EMBO J 17:1497–1506. doi:10.1093/emboj/17.5.1497
Article
CAS
PubMed
PubMed Central
Google Scholar
Arcot SS, Wang Z, Weber JL, Deininger PL, Batzer MA (1995) Alu repeats: a source for the genesis of primate microsatellites. Genomics 29:136–144. doi:10.1006/geno.1995.1224
Article
CAS
PubMed
Google Scholar
Arimbasseri AG, Rijal K, Maraia RJ (2014) Comparative overview of RNA polymerase II and III transcription cycles, with focus on RNA polymerase III termination and reinitiation. Transcription 5:e27639. doi:10.4161/trns.27369
Article
PubMed
Google Scholar
Arts GJ, Kuersten S, Romby P, Ehresmann B, Mattaj IW (1998) The role of exportin-t in selective nuclear export of mature tRNAs. EMBO J 17:7430–7441. doi:10.1093/emboj/17.24.7430
Article
CAS
PubMed
PubMed Central
Google Scholar
Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW, 3rd, Rademakers Ret 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
Bai B, Moore HM, Laiho M (2013) CRM1 and its ribosome export adaptor NMD3 localize to the nucleolus and affect rRNA synthesis. Nucleus 4:315–325. doi:10.4161/nucl.25342
Article
PubMed
PubMed Central
CAS
Google Scholar
Bak ST, Sakellariou D, Pena-Diaz J (2014) The dual nature of mismatch repair as antimutator and mutator: for better or for worse. Front Genet 5:287. doi:10.3389/fgene.2014.00287
Article
PubMed
PubMed Central
CAS
Google Scholar
Banez-Coronel M, Ayhan F, Tarabochia AD, Zu T, Perez BA, Tusi SK, Pletnikova O, Borchelt DR, Ross CA, Margolis RL et al (2015) RAN Translation in Huntington Disease. Neuron 88:667–677. doi:10.1016/j.neuron.2015.10.038
Article
CAS
PubMed
PubMed Central
Google Scholar
Banez-Coronel M, Porta S, Kagerbauer B, Mateu-Huertas E, Pantano L, Ferrer I, Guzman M, Estivill X, Marti E (2012) A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity. PLoS Genet 8:e1002481. doi:10.1371/journal.pgen.1002481
Article
CAS
PubMed
PubMed Central
Google Scholar
Baralle D, Buratti E (2017) RNA splicing in human disease and in the clinic. Clin Sci (Lond) 131:355–368. doi:10.1042/CS20160211
Article
CAS
Google Scholar
Baralle M, Pastor T, Bussani E, Pagani F (2008) Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing. Am J Hum Genet 83:77–88. doi:10.1016/j.ajhg.2008.06.018
Article
CAS
PubMed
PubMed Central
Google Scholar
Beaudet AL, Meng L (2016) Gene-targeting pharmaceuticals for single-gene disorders. Hum Mol Genet 25:R18–R26. doi:10.1093/hmg/ddv476
Article
CAS
PubMed
Google Scholar
Bernecky C, Herzog F, Baumeister W, Plitzko JM, Cramer P (2016) Structure of transcribing mammalian RNA polymerase II. Nature 529:551–554. doi:10.1038/nature16482
Article
CAS
PubMed
Google Scholar
Biancalana V, Taine L, Bouix JC, Finck S, Chauvin A, De Verneuil H, Knight SJ, Stoll C, Lacombe D, Mandel JL (1996) Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. Am J Hum Genet 59:847–854
CAS
PubMed
PubMed Central
Google Scholar
Bidichandani SI, Ashizawa T, Patel PI (1998) The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 62:111–121. doi:10.1086/301680
Article
CAS
PubMed
PubMed Central
Google Scholar
Biffi G, Di Antonio M, Tannahill D, Balasubramanian S (2014) Visualization and selective chemical targeting of RNA G-quadruplex structures in the cytoplasm of human cells. Nat Chem 6:75–80. doi:10.1038/nchem.1805
Article
CAS
PubMed
Google Scholar
Biyani M, Nishigaki K (2005) Structural characterization of ultra-stable higher-ordered aggregates generated by novel guanine-rich DNA sequences. Gene 364:130–138. doi:10.1016/j.gene.2005.05.041
Article
CAS
PubMed
Google Scholar
Bjork P, Wieslander L (2014) Mechanisms of mRNA export. Semin Cell Dev Biol 32:47–54. doi:10.1016/j.semcdb.2014.04.027
Article
PubMed
CAS
Google Scholar
Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira Oet al (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 18:164–167. doi:10.1038/ng0298-164
Brinkmann B, Klintschar M, Neuhuber F, Huhne J, Rolf B (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408–1415. doi:10.1086/301869
Article
CAS
PubMed
PubMed Central
Google Scholar
Brouwer JR, Huguet A, Nicole A, Munnich A, Gourdon G (2013) Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus. J Nucleic Acids 2013:567435. doi:10.1155/2013/567435
Article
PubMed
PubMed Central
CAS
Google Scholar
Budworth H, McMurray CT (2013) Bidirectional transcription of trinucleotide repeats: roles for excision repair. DNA repair 12:672–684. doi:10.1016/j.dnarep.2013.04.019
Article
CAS
PubMed
PubMed Central
Google Scholar
Buijsen RA, Visser JA, Kramer P, Severijnen EA, Gearing M, Charlet-Berguerand N, Sherman SL, Berman RF, Willemsen R, Hukema RK (2016) Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. Hum Reprod 31:158–168. doi:10.1093/humrep/dev280
Article
CAS
PubMed
Google Scholar
Buschiazzo E, Gemmell NJ (2006) The rise, fall and renaissance of microsatellites in eukaryotic genomes. BioEssays : news and reviews in molecular, cellular and developmental biology 28:1040–1050. doi:10.1002/bies.20470
Article
CAS
Google Scholar
Calado A, Treichel N, Muller EC, Otto A, Kutay U (2002) Exportin-5-mediated nuclear export of eukaryotic elongation factor 1A and tRNA. EMBO J 21:6216–6224
Article
CAS
PubMed
PubMed Central
Google Scholar
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A et al (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423–1427
Chaisson MJ, Huddleston J, Dennis MY, Sudmant PH, Malig M, Hormozdiari F, Antonacci F, Surti U, Sandstrom R, Boitano M et al (2015) Resolving the complexity of the human genome using single-molecule sequencing. Nature 517:608–611. doi:10.1038/nature13907
Chakraborty R, Kimmel M, Stivers DN, Davison LJ, Deka R (1997) Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci. Proc Natl Acad Sci U S A 94:1041–1046
Article
CAS
PubMed
PubMed Central
Google Scholar
Chan NL, Guo J, Zhang T, Mao G, Hou C, Yuan F, Huang J, Zhang Y, Wu J, Gu L et al (2013) Coordinated processing of 3' slipped (CAG)n/(CTG)n hairpins by DNA polymerases beta and delta preferentially induces repeat expansions. J Biol Chem 288:15015–15022. doi:10.1074/jbc.M113.464370
Article
CAS
PubMed
PubMed Central
Google Scholar
Charlet BN, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA (2002) Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10:45–53
Article
Google Scholar
Chen IC, Lin HY, Lee GC, Kao SH, Chen CM, Wu YR, Hsieh-Li HM, Su MT, Lee-Chen GJ (2009) Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci. BMC Mol Biol 10:9. doi:10.1186/1471-2199-10-9
Article
PubMed
PubMed Central
CAS
Google Scholar
Cheng H, Dufu K, Lee CS, Hsu JL, Dias A, Reed R (2006) Human mRNA export machinery recruited to the 5' end of mRNA. Cell 127:1389–1400. doi:10.1016/j.cell.2006.10.044
Article
CAS
PubMed
Google Scholar
Chi B, Wang Q, Wu G, Tan M, Wang L, Shi M, Chang X, Cheng H (2013) Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA. Nucleic Acids Res 41:1294–1306. doi:10.1093/nar/gks1188
Article
CAS
PubMed
Google Scholar
Childs-Disney JL, Hoskins J, Rzuczek SG, Thornton CA, Disney MD (2012) Rationally designed small molecules targeting the RNA that causes myotonic dystrophy type 1 are potently bioactive. Acs Chem Biol 7:856–862. doi:10.1021/cb200408a
Article
CAS
PubMed
PubMed Central
Google Scholar
Childs-Disney JL, Yildirim I, Park H, Lohman JR, Guan L, Tran T, Sarkar P, Schatz GC, Disney MD (2014) Structure of the myotonic dystrophy type 2 RNA and designed small molecules that reduce toxicity. Acs Chem Biol 9:538–550. doi:10.1021/cb4007387
Article
CAS
PubMed
Google Scholar
Chung DW, Rudnicki DD, Yu L, Margolis RL (2011) A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum Mol Genet 20:3467–3477. doi:10.1093/hmg/ddr263
Article
CAS
PubMed
PubMed Central
Google Scholar
Clark RM, Dalgliesh GL, Endres D, Gomez M, Taylor J, Bidichandani SI (2004) Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu. Genomics 83:373–383. doi:10.1016/j.ygeno.2003.09.001
Article
CAS
PubMed
Google Scholar
Cleary JD, Ranum LP (2014) Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders. Curr Opin Genet Dev 26C:6–15. doi:10.1016/j.gde.2014.03.002
Article
CAS
Google Scholar
Cohen-Hadad Y, Altarescu G, Eldar-Geva T, Levi-Lahad E, Zhang M, Rogaeva E, Gotkine M, Bartok O, Ashwal-Fluss R, Kadener S et al (2016) Marked Differences in C9orf72 Methylation Status and Isoform Expression between C9/ALS Human Embryonic and Induced Pluripotent Stem Cells. Stem Cell Rep 7:927–940. doi:10.1016/j.stemcr.2016.09.011
Colak D, Zaninovic N, Cohen MS, Rosenwaks Z, Yang WY, Gerhardt J, Disney MD, Jaffrey SR (2014) Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science 343:1002–1005. doi:10.1126/science.1245831
Article
CAS
PubMed
PubMed Central
Google Scholar
Conlon EG, Lu L, Sharma A, Yamazaki T, Tang T, Shneider NA, Manley JL (2016) The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains. eLife 5. doi:10.7554/eLife.17820
Cooper-Knock J, Higginbottom A, Stopford MJ, Highley JR, Ince PG, Wharton SB, Pickering-Brown S, Kirby J, Hautbergue GM, Shaw PJ (2015) Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy. Acta Neuropathol 130:63–75. doi:10.1007/s00401-015-1429-9
Article
CAS
PubMed
PubMed Central
Google Scholar
Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, Ince PG, Wharton SB, Wilson SA, Kirby J et al (2014) Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions. Brain 137:2040-2051. doi:10.1093/brain/awu120
Cortes CJ, La Spada AR (2015) Autophagy in polyglutamine disease: Imposing order on disorder or contributing to the chaos? Mol Cell Neurosci 66:53–61. doi:10.1016/j.mcn.2015.03.010
Article
CAS
PubMed
PubMed Central
Google Scholar
Coyle JH, Bor YC, Rekosh D, Hammarskjold ML (2011) The Tpr protein regulates export of mRNAs with retained introns that traffic through the Nxf1 pathway. RNA 17:1344–1356. doi:10.1261/rna.2616111
Article
CAS
PubMed
PubMed Central
Google Scholar
Crickard JB, Fu J, Reese JC (2016) Biochemical Analysis of Yeast Suppressor of Ty 4/5 (Spt4/5) Reveals the Importance of Nucleic Acid Interactions in the Prevention of RNA Polymerase II Arrest. J Biol Chem 291:9853–9870. doi:10.1074/jbc.M116.716001
Article
CAS
PubMed
PubMed Central
Google Scholar
Crouau-Roy B, Clisson I (2000) Evolution of an Alu DNA element of type Sx in the lineage of primates and the origin of an associated tetranucleotide microsatellite. Genome 43:642–648
Article
CAS
PubMed
Google Scholar
Custodio N, Carmo-Fonseca M, Geraghty F, Pereira HS, Grosveld F, Antoniou M (1999) Inefficient processing impairs release of RNA from the site of transcription. EMBO J 18:2855–2866. doi:10.1093/emboj/18.10.2855
Article
CAS
PubMed
PubMed Central
Google Scholar
Custodio N, Carvalho C, Condado I, Antoniou M, Blencowe BJ, Carmo-Fonseca M (2004) In vivo recruitment of exon junction complex proteins to transcription sites in mammalian cell nuclei. RNA 10:622–633
Article
CAS
PubMed
PubMed Central
Google Scholar
Dai WJ, Zhu LY, Yan ZY, Xu Y, Wang QL, Lu XJ (2016) CRISPR-Cas9 for in vivo Gene Therapy: Promise and Hurdles. Mol Ther Nucleic Acids 5:e349. doi:10.1038/mtna.2016.58
Article
CAS
PubMed
PubMed Central
Google Scholar
Darlington RW, Moss LH 3rd (1968) Herpesvirus envelopment. J Virol 2:48–55
CAS
PubMed
PubMed Central
Google Scholar
Daugaard I, Hansen TB (2017) Biogenesis and Function of Ago-Associated RNAs. Trends Genet. doi:10.1016/j.tig.2017.01.003
David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, Weber C, Imbert G, Saudou F, Antoniou Eet al (1997) Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet 17:65–70. doi:10.1038/ng0997-65
de la Mata M, Alonso CR, Kadener S, Fededa JP, Blaustein M, Pelisch F, Cramer P, Bentley D, Kornblihtt AR (2003) A slow RNA polymerase II affects alternative splicing in vivo. Mol Cell 12:525–532
Article
PubMed
Google Scholar
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J et al (2011) Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS. Neuron 72:245–256. doi:10.1016/j.neuron.2011.09.011
Article
CAS
PubMed
PubMed Central
Google Scholar
Delaleau M, Borden KL (2015) Multiple Export Mechanisms for mRNAs. Cells 4:452–473. doi:10.3390/cells4030452
Article
PubMed
PubMed Central
Google Scholar
Diegoli TM (2015) Forensic typing of short tandem repeat markers on the X and Y chromosomes. Forensic Sci Int Genet 18:140–151. doi:10.1016/j.fsigen.2015.03.013
Article
CAS
PubMed
Google Scholar
Dodd DW, Tomchick DR, Corey DR, Gagnon KT (2016) Pathogenic C9ORF72 Antisense Repeat RNA Forms a Double Helix with Tandem C:C Mismatches. Biochemistry 55:1283–1286. doi:10.1021/acs.biochem.6b00136
Article
CAS
PubMed
Google Scholar
Doma MK, Parker R (2006) Endonucleolytic cleavage of eukaryotic mRNAs with stalls in translation elongation. Nature 440:561–564. doi:10.1038/nature04530
Article
CAS
PubMed
PubMed Central
Google Scholar
Donnelly CJ, Zhang PW, Pham JT, Haeusler AR, Mistry NA, Vidensky S, Daley EL, Poth EM, Hoover B, Fines DM et al (2013) RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention. Neuron 80:415–428. doi:10.1016/j.neuron.2013.10.015
Dumache R, Ciocan V, Muresan C, Enache A (2016) Molecular DNA Analysis in Forensic Identification. Clin Lab 62:245–248
CAS
PubMed
Google Scholar
Eberle AB, Hessle V, Helbig R, Dantoft W, Gimber N, Visa N (2010) Splice-site mutations cause Rrp6-mediated nuclear retention of the unspliced RNAs and transcriptional down-regulation of the splicing-defective genes. PLoS One 5:e11540. doi:10.1371/journal.pone.0011540
Article
PubMed
PubMed Central
CAS
Google Scholar
Eberle AB, Visa N (2014) Quality control of mRNP biogenesis: networking at the transcription site. Semin Cell Dev Biol 32:37–46. doi:10.1016/j.semcdb.2014.03.033
Article
CAS
PubMed
Google Scholar
Ellegren H (2000) Heterogeneous mutation processes in human microsatellite DNA sequences. Nat Genet 24:400–402. doi:10.1038/74249
Article
CAS
PubMed
Google Scholar
Ellegren H (2004) Microsatellites: simple sequences with complex evolution. Nat Rev Genet 5:435–445. doi:10.1038/nrg1348
Article
CAS
PubMed
Google Scholar
Evans-Galea MV, Hannan AJ, Carrodus N, Delatycki MB, Saffery R (2013) Epigenetic modifications in trinucleotide repeat diseases. Trends Mol Med 19:655–663. doi:10.1016/j.molmed.2013.07.007
Article
CAS
PubMed
Google Scholar
Fellmann C, Gowen BG, Lin PC, Doudna JA, Corn JE (2017) Cornerstones of CRISPR-Cas in drug discovery and therapy. Nat Rev Drug Discov 16:89–100. doi:10.1038/nrd.2016.238
Article
CAS
PubMed
Google Scholar
Feng Y, Zhang F, Lokey LK, Chastain JL, Lakkis L, Eberhart D, Warren ST (1995) Translational suppression by trinucleotide repeat expansion at FMR1. Science 268:731–734
Article
CAS
PubMed
Google Scholar
Finkel RS (2010) Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J Child Neurol 25:1158–1164. doi:10.1177/0883073810371129
Article
PubMed
PubMed Central
Google Scholar
Floer M, Blobel G (1999) Putative reaction intermediates in Crm1-mediated nuclear protein export. J Biol Chem 274:16279–16286
Article
CAS
PubMed
Google Scholar
Foiry L, Dong L, Savouret C, Hubert L, te Riele H, Junien C, Gourdon G (2006) Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet 119:520–526. doi:10.1007/s00439-006-0164-7
Article
CAS
PubMed
Google Scholar
Follonier C, Oehler J, Herrador R, Lopes M (2013) Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions. Nat Struct Mol Biol 20:486–494. doi:10.1038/nsmb.2520
Article
CAS
PubMed
Google Scholar
Fornerod M, Ohno M, Yoshida M, Mattaj IW (1997) CRM1 is an export receptor for leucine-rich nuclear export signals. Cell 90:1051–1060
Article
CAS
PubMed
Google Scholar
Fradkin LG, Budnik V (2016) This bud's for you: mechanisms of cellular nucleocytoplasmic trafficking via nuclear envelope budding. Curr Opin Cell Biol 41:125–131. doi:10.1016/j.ceb.2016.05.001
Article
CAS
PubMed
PubMed Central
Google Scholar
Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EMC, Parkinson G, Isaacs AM (2012) C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep-Uk 2:1016. doi:10.1038/Srep01016
Article
CAS
Google Scholar
Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee KH, Badders N, Valentine M, Miller BL, Wong PC et al (2015) GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport. Nature 525:129–133. doi:10.1038/nature14974
Freudenreich CH, Kantrow SM, Zakian VA (1998) Expansion and length-dependent fragility of CTG repeats in yeast. Science 279:853–856
Article
CAS
PubMed
Google Scholar
Frischmeyer PA, van Hoof A, O'Donnell K, Guerrerio AL, Parker R, Dietz HC (2002) An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 295:2258–2261. doi:10.1126/science.1067338
Article
CAS
PubMed
Google Scholar
Froehlich AC, Liu Y, Loros JJ, Dunlap JC (2002) White Collar-1, a circadian blue light photoreceptor, binding to the frequency promoter. Science 297:815–819. doi:10.1126/science.1073681
Article
CAS
PubMed
Google Scholar
Gadgil R, Barthelemy J, Lewis T, Leffak M (2017) Replication stalling and DNA microsatellite instability. Biophys Chem 225:38–48. doi:10.1016/j.bpc.2016.11.007
Article
CAS
PubMed
Google Scholar
Gagnon KT, Corey DR (2015) Stepping toward therapeutic CRISPR. Proc Natl Acad Sci U S A 112:15536–15537. doi:10.1073/pnas.1521670112
CAS
PubMed
PubMed Central
Google Scholar
Gan W, Guan Z, Liu J, Gui T, Shen K, Manley JL, Li X (2011) R-loop-mediated genomic instability is caused by impairment of replication fork progression. Genes Dev 25:2041–2056. doi:10.1101/gad.17010011
Article
CAS
PubMed
PubMed Central
Google Scholar
Garavis M, Gonzalez C, Villasante A (2013) On the origin of the eukaryotic chromosome: the role of noncanonical DNA structures in telomere evolution. Genome Biol Evol 5:1142–1150. doi:10.1093/gbe/evt079
Article
PubMed
PubMed Central
CAS
Google Scholar
Garcia SM, Tabach Y, Lourenco GF, Armakola M, Ruvkun G (2014) Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans. Nat Struct Mol Biol 21:712–720. doi:10.1038/nsmb.2858
Article
CAS
PubMed
PubMed Central
Google Scholar
Gellert M, Lipsett MN, Davies DR (1962) Helix formation by guanylic acid. Proc Natl Acad Sci U S A 48:2013–2018
Article
CAS
PubMed
PubMed Central
Google Scholar
Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J et al (2013) Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol 126:829–844. doi:10.1007/s00401-013-1192-8
Ginno PA, Lott PL, Christensen HC, Korf I, Chedin F (2012) R-loop formation is a distinctive characteristic of unmethylated human CpG island promoters. Mol Cell 45:814–825. doi:10.1016/j.molcel.2012.01.017
Article
CAS
PubMed
PubMed Central
Google Scholar
Goers ES, Purcell J, Voelker RB, Gates DP, Berglund JA (2010) MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing. Nucleic Acids Res 38:2467–2484. doi:10.1093/nar/gkp1209
Article
CAS
PubMed
PubMed Central
Google Scholar
Gordenin DA, Kunkel TA, Resnick MA (1997) Repeat expansion--all in a flap? Nat Genet 16:116–118. doi:10.1038/ng0697-116
Article
CAS
PubMed
Google Scholar
Grabczyk E, Usdin K (2000) The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res 28:2815–2822
Article
CAS
PubMed
PubMed Central
Google Scholar
Grandi FC, An W (2013) Non-LTR retrotransposons and microsatellites: Partners in genomic variation. Mobile Genet Elem 3:e25674. doi:10.4161/mge.25674
Article
Google Scholar
Green KM, Linsalata AE, Todd PK (2016) RAN translation-What makes it run? Brain Res. doi:10.1016/j.brainres.2016.04.003
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K (2007) Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res 35:3383–3390. doi:10.1093/nar/gkm271
Article
CAS
PubMed
PubMed Central
Google Scholar
Griesche N, Schilling J, Weber S, Rohm M, Pesch V, Matthes F, Auburger G, Krauss S (2016) Regulation of mRNA Translation by MID1: A Common Mechanism of Expanded CAG Repeat RNAs. Front Cell Neurosci 10:226. doi:10.3389/fncel.2016.00226
Article
PubMed
PubMed Central
Google Scholar
Groh M, Lufino MM, Wade-Martins R, Gromak N (2014) R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome. PLoS Genet 10:e1004318. doi:10.1371/journal.pgen.1004318
Article
PubMed
PubMed Central
CAS
Google Scholar
Groh M, Silva LM, Gromak N (2014) Mechanisms of transcriptional dysregulation in repeat expansion disorders. Biochem Soc Trans 42:1123–1128. doi:10.1042/BST20140049
Article
CAS
PubMed
Google Scholar
Gruter P, Tabernero C, von Kobbe C, Schmitt C, Saavedra C, Bachi A, Wilm M, Felber BK, Izaurralde E (1998) TAP, the human homolog of Mex67p, mediates CTE-dependent RNA export from the nucleus. Mol Cell 1:649–659
Article
CAS
PubMed
Google Scholar
Guan L, Disney MD (2012) Recent advances in developing small molecules targeting RNA. Acs Chem Biol 7:73–86. doi:10.1021/cb200447r
Article
CAS
PubMed
Google Scholar
Gudanis D, Popenda L, Szpotkowski K, Kierzek R, Gdaniec Z (2016) Structural characterization of a dimer of RNA duplexes composed of 8-bromoguanosine modified CGG trinucleotide repeats: a novel architecture of RNA quadruplexes. Nucleic Acids Res 44:2409–2416. doi:10.1093/nar/gkv1534
Article
CAS
PubMed
PubMed Central
Google Scholar
Gudde AE, Gonzalez-Barriga A, van den Broek WJ, Wieringa B, Wansink DG (2016) A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle. Hum Mol Genet 25:1648–1662. doi:10.1093/hmg/ddw042
Article
CAS
PubMed
PubMed Central
Google Scholar
Gudde AE, van Heeringen SJ, de Oude AI, van Kessel ID, Estabrook J, Wang ET, Wieringa B, Wansink DG (2017) Antisense transcription of the myotonic dystrophy locus yields low-abundant RNAs with and without (CAG)n repeat. RNA Biol 0. doi:10.1080/15476286.2017.1279787
Guo J, Gu L, Leffak M, Li GM (2016) MutSbeta promotes trinucleotide repeat expansion by recruiting DNA polymerase beta to nascent (CAG)n or (CTG)n hairpins for error-prone DNA synthesis. Cell Res 26:775–786. doi:10.1038/cr.2016.66
Article
CAS
PubMed
PubMed Central
Google Scholar
Guo JU, Bartel DP (2016) RNA G-quadruplexes are globally unfolded in eukaryotic cells and depleted in bacteria. Science 353. doi:10.1126/science.aaf5371
Haeusler AR, Donnelly CJ, Periz G, Simko EA, Shaw PG, Kim MS, Maragakis NJ, Troncoso JC, Pandey A, Sattler Ret al (2014) C9orf72 nucleotide repeat structures initiate molecular cascades of disease. Nature 507:195–200. doi:10.1038/nature13124
Hamperl S, Cimprich KA (2016) Conflict Resolution in the Genome: How Transcription and Replication Make It Work. Cell 167:1455–1467. doi:10.1016/j.cell.2016.09.053
Article
CAS
PubMed
Google Scholar
Hautbergue GM, Castelli LM, Ferraiuolo L, Sanchez-Martinez A, Cooper-Knock J, Higginbottom A, Lin YH, Bauer CS, Dodd JE, Myszczynska MA et al (2017) SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits. Nat Commun 8:16063. doi:10.1038/ncomms16063
Article
CAS
PubMed
PubMed Central
Google Scholar
Hautbergue GM, Hung ML, Golovanov AP, Lian LY, Wilson SA (2008) Mutually exclusive interactions drive handover of mRNA from export adaptors to TAP. Proc Natl Acad Sci U S A 105:5154–5159. doi:10.1073/pnas.0709167105
Article
CAS
PubMed
PubMed Central
Google Scholar
He F, Todd PK (2011) Epigenetics in nucleotide repeat expansion disorders. Semin Neurol 31:470–483. doi:10.1055/s-0031-1299786
Article
PubMed
Google Scholar
He Y, Vogelstein B, Velculescu VE, Papadopoulos N, Kinzler KW (2008) The antisense transcriptomes of human cells. Science 322:1855–1857. doi:10.1126/science.1163853
Article
CAS
PubMed
PubMed Central
Google Scholar
Heitz D, Rousseau F, Devys D, Saccone S, Abderrahim H, Le Paslier D, Cohen D, Vincent A, Toniolo D, Della Valle G et al (1991) Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island. Science 251:1236–1239
Hesselberth JR (2013) Lives that introns lead after splicing. Wiley Interdiscip Rev RNA 4:677–691. doi:10.1002/wrna.1187
CAS
PubMed
Google Scholar
Hinnebusch AG (2014) The scanning mechanism of eukaryotic translation initiation. Annu Rev Biochem 83:779–812. doi:10.1146/annurev-biochem-060713-035802
Article
CAS
PubMed
Google Scholar
Hinnebusch AG, Ivanov IP, Sonenberg N (2016) Translational control by 5'-untranslated regions of eukaryotic mRNAs. Science 352:1413–1416. doi:10.1126/science.aad9868
Article
CAS
PubMed
Google Scholar
Hino S, Kondo S, Sekiya H, Saito A, Kanemoto S, Murakami T, Chihara K, Aoki Y, Nakamori M, Takahashi MP et al (2007) Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. Hum Mol Genet 16:2834–2843 doi:10.1093/hmg/ddm239
Hirtreiter A, Damsma GE, Cheung AC, Klose D, Grohmann D, Vojnic E, Martin AC, Cramer P, Werner F (2010) Spt4/5 stimulates transcription elongation through the RNA polymerase clamp coiled-coil motif. Nucleic Acids Res 38:4040–4051. doi:10.1093/nar/gkq135
Article
CAS
PubMed
PubMed Central
Google Scholar
Holmes SE, O'Hearn E, Rosenblatt A, Callahan C, Hwang HS, Ingersoll-Ashworth RG, Fleisher A, Stevanin G, Brice A, Potter NT et al (2001) A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet 29:377–378. doi:10.1038/ng760
Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ et al (1999) Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet 23:391–392. doi:10.1038/70493
Houseley J, Tollervey D (2011) Repeat expansion in the budding yeast ribosomal DNA can occur independently of the canonical homologous recombination machinery. Nucleic Acids Res 39:8778–8791. doi:10.1093/nar/gkr589
Article
CAS
PubMed
PubMed Central
Google Scholar
Huertas P, Aguilera A (2003) Cotranscriptionally formed DNA:RNA hybrids mediate transcription elongation impairment and transcription-associated recombination. Mol Cell 12:711–721
Article
CAS
PubMed
Google Scholar
Hung ML, Hautbergue GM, Snijders AP, Dickman MJ, Wilson SA (2010) Arginine methylation of REF/ALY promotes efficient handover of mRNA to TAP/NXF1. Nucleic Acids Res 38:3351–3361. doi:10.1093/nar/gkq033
Article
CAS
PubMed
PubMed Central
Google Scholar
Iglesias N, Stutz F (2008) Regulation of mRNP dynamics along the export pathway. FEBS letters 582:1987–1996. doi:10.1016/j.febslet.2008.03.038
Article
CAS
PubMed
Google Scholar
Ikeda Y, Daughters RS, Ranum LP (2008) Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. Cerebellum 7:150–158. doi:10.1007/s12311-008-0010-7
Article
CAS
PubMed
Google Scholar
Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N et al (1996) Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 14:285–291. doi:10.1038/ng1196-285
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.1168978
Article
CAS
PubMed
PubMed Central
Google Scholar
Ishiguro T, Sato N, Ueyama M, Fujikake N, Sellier C, Kanegami A, Tokuda E, Zamiri B, Gall-Duncan T, Mirceta M et al (2017) Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31. Neuron. doi:10.1016/j.neuron.2017.02.046
Iyer RR, Pluciennik A, Napierala M, Wells RD (2015) DNA Triplet Repeat Expansion and Mismatch Repair. Annu Rev Biochem. doi:10.1146/annurev-biochem-060614-034010
Izumi H, McCloskey A, Shinmyozu K, Ohno M (2014) p54nrb/NonO and PSF promote U snRNA nuclear export by accelerating its export complex assembly. Nucleic Acids Res 42:3998–4007. doi:10.1093/nar/gkt1365
Article
CAS
PubMed
PubMed Central
Google Scholar
Jain A, Vale RD (2017) RNA phase transitions in repeat expansion disorders. Nature 546:243–247. doi:10.1038/nature22386
Article
CAS
PubMed
Google Scholar
Jansen A, Gemayel R, Verstrepen KJ (2012) Unstable microsatellite repeats facilitate rapid evolution of coding and regulatory sequences. Genome Dyn 7:108–125. doi:10.1159/000337121
Article
CAS
PubMed
Google Scholar
Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D et al (2016) Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs. Neuron 90:535–550. doi:10.1016/j.neuron.2016.04.006
Jokhi V, Ashley J, Nunnari J, Noma A, Ito N, Wakabayashi-Ito N, Moore MJ, Budnik V (2013) Torsin mediates primary envelopment of large ribonucleoprotein granules at the nuclear envelope. Cell Rep 3:988–995. doi:10.1016/j.celrep.2013.03.015
Article
CAS
PubMed
PubMed Central
Google Scholar
Jovicic A, Mertens J, Boeynaems S, Bogaert E, Chai N, Yamada SB, Paul JW, 3rd, Sun S, Herdy JR, Bieri Get al (2015) Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS. Nat Neurosci 18: 1226-1229 Doi doi:10.1038/nn.4085
Kang S, Jaworski A, Ohshima K, Wells RD (1995) Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nat Genet 10:213–218. doi:10.1038/ng0695-213
Article
CAS
PubMed
Google Scholar
Katahira J (2012) mRNA export and the TREX complex. Biochimica Et Biophysica Acta 1819:507–513. doi:10.1016/j.bbagrm.2011.12.001
Article
CAS
PubMed
Google Scholar
Katahira J (2015) Nuclear export of messenger RNA. Genes 6:163–184. doi:10.3390/genes6020163
Article
CAS
PubMed
PubMed Central
Google Scholar
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I et al (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 Nat Genet 8:221–228. doi:10.1038/ng1194-221
Kearse MG, Green KM, Krans A, Rodriguez CM, Linsalata AE, Goldstrohm AC, Todd PK (2016) CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins. Mol Cell 62:314–322. doi:10.1016/j.molcel.2016.02.034
Article
CAS
PubMed
PubMed Central
Google Scholar
Kearse MG, Todd PK (2014) Repeat-associated non-AUG translation and its impact in neurodegenerative disease. Neurotherapeutics 11:721–731. doi:10.1007/s13311-014-0292-z
Article
CAS
PubMed
PubMed Central
Google Scholar
Kenneson A, Zhang F, Hagedorn CH, Warren ST (2001) Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 10:1449–1454
Article
CAS
PubMed
Google Scholar
Kerrest A, Anand RP, Sundararajan R, Bermejo R, Liberi G, Dujon B, Freudenreich CH, Richard GF (2009) SRS2 and SGS1 prevent chromosomal breaks and stabilize triplet repeats by restraining recombination. Nat Struct Mol Biol 16:159–167. doi:10.1038/nsmb.1544
Article
CAS
PubMed
PubMed Central
Google Scholar
Khorkova O, Myers AJ, Hsiao J, Wahlestedt C (2014) Natural antisense transcripts. Hum Mol Genet 23:R54–R63. doi:10.1093/hmg/ddu207
Article
CAS
PubMed
PubMed Central
Google Scholar
Kilchert C, Wittmann S, Vasiljeva L (2016) The regulation and functions of the nuclear RNA exosome complex. Nat Rev Mol Cell Biol 17:227–239. doi:10.1038/nrm.2015.15
Article
CAS
PubMed
Google Scholar
Kiliszek A, Rypniewski W (2014) Structural studies of CNG repeats. Nucleic Acids Res 42:8189–8199
Article
CAS
PubMed
PubMed Central
Google Scholar
Kim JC, Harris ST, Dinter T, Shah KA, Mirkin SM (2017) The role of break-induced replication in large-scale expansions of (CAG)n/(CTG)n repeats. Nat Struct Mol Biol 24:55–60. doi:10.1038/nsmb.3334
Article
PubMed
CAS
Google Scholar
Kim JC, Mirkin SM (2013) The balancing act of DNA repeat expansions. Curr Opin Genet Dev 23:280–288. doi:10.1016/j.gde.2013.04.009
Article
CAS
PubMed
PubMed Central
Google Scholar
Kino Y, Washizu C, Kurosawa M, Oma Y, Hattori N, Ishiura S, Nukina N (2015) Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins. Hum Mol Genet 24:740–756. doi:10.1093/hmg/ddu492
Article
CAS
PubMed
Google Scholar
Klein BJ, Bose D, Baker KJ, Yusoff ZM, Zhang X, Murakami KS (2011) RNA polymerase and transcription elongation factor Spt4/5 complex structure. Proc Natl Acad Sci U S A 108:546–550. doi:10.1073/pnas.1013828108
Article
CAS
PubMed
Google Scholar
Knight SJ, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME et al (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127–134
Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Liu W, Okuda H, Koizumi A (2011) Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J Hum Genet 89:121–130. doi:10.1016/j.ajhg.2011.05.015
Article
CAS
PubMed
PubMed Central
Google Scholar
Kochetov AV, Palyanov A, Titov II, Grigorovich D, Sarai A, Kolchanov NA (2007) AUG_hairpin: prediction of a downstream secondary structure influencing the recognition of a translation start site. BMC Bioinformatics 8:318. doi:10.1186/1471-2105-8-318
Article
PubMed
PubMed Central
CAS
Google Scholar
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T et al (1994) Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet 6:9–13. doi:10.1038/ng0194-9
Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP (1999) An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). Nat Genet 21:379–384. doi:10.1038/7710
Article
CAS
PubMed
Google Scholar
Kota KP, Wagner SR, Huerta E, Underwood JM, Nickerson JA (2008) Binding of ATP to UAP56 is necessary for mRNA export. J Cell Sci 121:1526–1537. doi:10.1242/jcs.021055
Article
CAS
PubMed
Google Scholar
Kozak M (1990) Downstream secondary structure facilitates recognition of initiator codons by eukaryotic ribosomes. Proc Natl Acad Sci U S A 87:8301–8305
Article
CAS
PubMed
PubMed Central
Google Scholar
Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J et al (2016) Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. Science 353:708–712. doi:10.1126/science.aaf7791
Krauss S, Griesche N, Jastrzebska E, Chen C, Rutschow D, Achmuller C, Dorn S, Boesch SM, Lalowski M, Wanker E et al (2013) Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex. Nat Commun 4:1511. doi:10.1038/ncomms2514
Kremer EJ, Yu S, Pritchard M, Nagaraja R, Heitz D, Lynch M, Baker E, Hyland VJ, Little RD, Wada Met al (1991) Isolation of a human DNA sequence which spans the fragile X. Am J Hum Genet 49:656–661
Kumari D, Biacsi RE, Usdin K (2011) Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells. J Biol Chem 286:4209–4215. doi:10.1074/jbc.M110.194035
Article
CAS
PubMed
Google Scholar
Kurosaki T, Ueda S, Ishida T, Abe K, Ohno K, Matsuura T (2012) The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. PLoS One 7:e38379. doi:10.1371/journal.pone.0038379
Article
CAS
PubMed
PubMed Central
Google Scholar
Kwok CK, Marsico G, Sahakyan AB, Chambers VS, Balasubramanian S (2016) rG4-seq reveals widespread formation of G-quadruplex structures in the human transcriptome. Nat Methods 13:841–844. doi:10.1038/nmeth.3965
Article
CAS
PubMed
Google Scholar
Kwon I, Xiang S, Kato M, Wu L, Theodoropoulous P, Wang T, Kim J, Yun J, Xie Y, McKnight SL (2014) Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells. Science 345:1139–1145
Article
CAS
PubMed
PubMed Central
Google Scholar
La Spada AR, Taylor JP (2010) Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet 11:247–258. doi:10.1038/nrg2748
Article
PubMed
PubMed Central
CAS
Google Scholar
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77–79. doi:10.1038/352077a0
Article
PubMed
Google Scholar
Labbadia J, Morimoto RI (2013) Huntington's disease: underlying molecular mechanisms and emerging concepts. Trends Biochem Sci 38:378–385. doi:10.1016/j.tibs.2013.05.003
Article
CAS
PubMed
PubMed Central
Google Scholar
Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M et al (2013) Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration. Proc Natl Acad Sci U S A 110:E4530–E4539. doi:10.1073/pnas.1318835110
Article
CAS
PubMed
PubMed Central
Google Scholar
Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE (1997) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386:847–851. doi:10.1038/386847a0
Article
CAS
PubMed
Google Scholar
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W et al (2001) Initial sequencing and analysis of the human genome. Nature 409:860–921. doi:10.1038/35057062
Article
CAS
PubMed
Google Scholar
Le Hir H, Izaurralde E, Maquat LE, Moore MJ (2000) The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions. EMBO J 19:6860–6869. doi:10.1093/emboj/19.24.6860
Article
PubMed
PubMed Central
Google Scholar
Lee JE, Cooper TA (2009) Pathogenic mechanisms of myotonic dystrophy. Biochem Soc Trans 37:1281–1286. doi:10.1042/BST0371281
Article
CAS
PubMed
Google Scholar
Lee KH, Zhang P, Kim HJ, Mitrea DM, Sarkar M, Freibaum BD, Cika J, Coughlin M, Messing J, Molliex A et al (2016) C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles. Cell 167(774-788):e717. doi:10.1016/j.cell.2016.10.002
Google Scholar
Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter EL, Vance C et al (2013) Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic. Cell Rep 5:1178–1186. doi:10.1016/j.celrep.2013.10.049
Article
CAS
PubMed
PubMed Central
Google Scholar
Leffak M (2017) Break-induced replication links microsatellite expansion to complex genome rearrangements. Bioessays 39. doi:10.1002/bies.201700025
Li L, Matsui M, Corey DR (2016) Activating frataxin expression by repeat-targeted nucleic acids. Nat Commun 7:10606. doi:10.1038/ncomms10606
Article
CAS
PubMed
PubMed Central
Google Scholar
Li Y, Bor YC, Misawa Y, Xue Y, Rekosh D, Hammarskjold ML (2006) An intron with a constitutive transport element is retained in a Tap messenger RNA. Nature 443:234–237. doi:10.1038/nature05107
Article
CAS
PubMed
Google Scholar
Li YY, Abu-Ghazalah R, Zamiri B, Macgregor RB Jr (2016) Concentration-dependent conformational changes in GQ-forming ODNs. Biophys Chem 211:70–75. doi:10.1016/j.bpc.2016.02.002
Article
CAS
PubMed
Google Scholar
Lin Y, Hubert L Jr, Wilson JH (2009) Transcription destabilizes triplet repeats. Mol Carcinog 48:350–361. doi:10.1002/mc.20488
Article
CAS
PubMed
PubMed Central
Google Scholar
Lin Y, Leng M, Wan M, Wilson JH (2010) Convergent transcription through a long CAG tract destabilizes repeats and induces apoptosis. Mol Cell Biol 30:4435–4451. doi:10.1128/MCB.00332-10
Article
CAS
PubMed
PubMed Central
Google Scholar
Lin Y, Mori E, Kato M, Xiang S, Wu L, Kwon I, McKnight SL (2016) Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers. Cell 167:789–802 e712. doi:10.1016/j.cell.2016.10.003
Article
CAS
PubMed
PubMed Central
Google Scholar
Lin Y, Wilson JH (2012) Nucleotide excision repair, mismatch repair, and R-loops modulate convergent transcription-induced cell death and repeat instability. PLoS One 7:e46807. doi:10.1371/journal.pone.0046807
Article
CAS
PubMed
PubMed Central
Google Scholar
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293:864–867. doi:10.1126/science.1062125
Article
CAS
PubMed
Google Scholar
Liu B, Steitz TA (2017) Structural insights into NusG regulating transcription elongation. Nucleic Acids Res 45:968–974. doi:10.1093/nar/gkw1159
Article
PubMed
Google Scholar
Liu CR, Chang CR, Chern Y, Wang TH, Hsieh WC, Shen WC, Chang CY, Chu IC, Deng N, Cohen SN et al (2012) Spt4 is selectively required for transcription of extended trinucleotide repeats. Cell 148:690–701. doi:10.1016/j.cell.2011.12.032
Article
CAS
PubMed
Google Scholar
Liu G, Chen X, Bissler JJ, Sinden RR, Leffak M (2010) Replication-dependent instability at (CTG) x (CAG) repeat hairpins in human cells. Nat Chem Biol 6:652–659. doi:10.1038/nchembio.416
Article
CAS
PubMed
PubMed Central
Google Scholar
Liu J, Hu J, Ludlow AT, Pham JT, Shay JW, Rothstein JD, Corey DR (2017) c9orf72 Disease-Related Foci Are Each Composed of One Mutant Expanded Repeat RNA. Cell Chem Biol 24:141–148. doi:10.1016/j.chembiol.2016.12.018
Article
PubMed
CAS
Google Scholar
Llorente B, Smith CE, Symington LS (2008) Break-induced replication: what is it and what is it for? Cell Cycle 7:859–864. doi:10.4161/cc.7.7.5613
Article
CAS
PubMed
Google Scholar
Lokanga RA, Senejani AG, Sweasy JB, Usdin K (2015) Heterozygosity for a hypomorphic Polbeta mutation reduces the expansion frequency in a mouse model of the Fragile X-related disorders. PLoS Genet 11:e1005181. doi:10.1371/journal.pgen.1005181
Article
PubMed
PubMed Central
CAS
Google Scholar
Lujan SA, Clausen AR, Clark AB, MacAlpine HK, MacAlpine DM, Malc EP, Mieczkowski PA, Burkholder AB, Fargo DC, Gordenin DA et al (2014) Heterogeneous polymerase fidelity and mismatch repair bias genome variation and composition. Genome Res 24:1751–1764. doi:10.1101/gr.178335.114
Article
CAS
PubMed
PubMed Central
Google Scholar
MacDonald ME, Barnes G, Srinidhi J, Duyao MP, Ambrose CM, Myers RH, Gray J, Conneally PM, Young A, Penney J et al (1993) Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genet 30:982–986
Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science 255:1253–1255
Malgowska M, Gudanis D, Kierzek R, Wyszko E, Gabelica V, Gdaniec Z (2014) Distinctive structural motifs of RNA G-quadruplexes composed of AGG, CGG and UGG trinucleotide repeats. Nucleic Acids Res 42:10196–10207. doi:10.1093/nar/gku710
Article
CAS
PubMed
PubMed Central
Google Scholar
Malkova A, Haber JE (2012) Mutations arising during repair of chromosome breaks. Annu Rev Genet 46:455–473. doi:10.1146/annurev-genet-110711-155547
Article
CAS
PubMed
Google Scholar
Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA (2000) Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289:1769–1773
Article
CAS
PubMed
Google Scholar
Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, Henderson D, Schalling M, Swanson MS, Thornton CA (2001) Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 10:2165–2170
Article
CAS
PubMed
Google Scholar
Mao YS, Zhang B, Spector DL (2011) Biogenesis and function of nuclear bodies. Trends Genet 27:295–306. doi:10.1016/j.tig.2011.05.006
Article
CAS
PubMed
PubMed Central
Google Scholar
Maquat LE, Li X (2001) Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay. RNA 7:445–456
Article
CAS
PubMed
PubMed Central
Google Scholar
Maric M, Shao J, Ryan RJ, Wong CS, Gonzalez-Alegre P, Roller RJ (2011) A functional role for TorsinA in herpes simplex virus 1 nuclear egress. J Virol 85:9667–9679. doi:10.1128/JVI.05314-11
Article
CAS
PubMed
PubMed Central
Google Scholar
Martinez-Rucobo FW, Sainsbury S, Cheung AC, Cramer P (2011) Architecture of the RNA polymerase-Spt4/5 complex and basis of universal transcription processivity. EMBO J 30:1302–1310. doi:10.1038/emboj.2011.64
Article
CAS
PubMed
PubMed Central
Google Scholar
Mason SW, Greenblatt J (1991) Assembly of transcription elongation complexes containing the N protein of phage lambda and the Escherichia coli elongation factors NusA, NusB, NusG, and S10. Genes Dev 5:1504–1512
Article
CAS
PubMed
Google Scholar
Massenet S, Bertrand E, Verheggen C (2016) Assembly and trafficking of box C/D and H/ACA snoRNPs. RNA Biol 1–13. doi:10.1080/15476286.2016.1243646
Masuda S, Das R, Cheng H, Hurt E, Dorman N, Reed R (2005) Recruitment of the human TREX complex to mRNA during splicing. Genes Dev 19:1512–1517. doi:10.1101/gad.1302205
Article
CAS
PubMed
PubMed Central
Google Scholar
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L et al (2000) Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191–194. doi:10.1038/79911
Article
CAS
PubMed
Google Scholar
McMurray CT (2010) Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet 11:786–799. doi:10.1038/nrg2828
Article
CAS
PubMed
PubMed Central
Google Scholar
Meng F, Na I, Kurgan L, Uversky VN (2015) Compartmentalization and Functionality of Nuclear Disorder: Intrinsic Disorder and Protein-Protein Interactions in Intra-Nuclear Compartments. Int J Mol Sci 17. doi:10.3390/ijms17010024
Meservy JL, Sargent RG, Iyer RR, Chan F, McKenzie GJ, Wells RD, Wilson JH (2003) Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Mol Cell Biol 23:3152–3162
Article
CAS
PubMed
PubMed Central
Google Scholar
Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW et al (2014) A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families. Hum Mutat 35:1295–1300. doi:10.1002/humu.22683
CAS
PubMed
Google Scholar
Metsu S, Rooms L, Rainger J, Taylor MS, Bengani H, Wilson DI, Chilamakuri CS, Morrison H, Vandeweyer G, Reyniers E et al (2014) FRA2A is a CGG repeat expansion associated with silencing of AFF3. PLoS Genet 10:e1004242. doi:10.1371/journal.pgen.1004242
Article
PubMed
PubMed Central
CAS
Google Scholar
Michael TP, Park S, Kim TS, Booth J, Byer A, Sun Q, Chory J, Lee K (2007) Simple sequence repeats provide a substrate for phenotypic variation in the Neurospora crassa circadian clock. PLoS One 2:e795. doi:10.1371/journal.pone.0000795
Article
PubMed
PubMed Central
CAS
Google Scholar
Mirkin SM (2007) Expandable DNA repeats and human disease. Nature 447:932–940. doi:10.1038/nature05977
Article
CAS
PubMed
Google Scholar
Mizielinska S, Gronke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IO, Pietrzyk J et al (2014) C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science 345:1192–1194. doi:10.1126/science.1256800
Article
CAS
PubMed
PubMed Central
Google Scholar
Mohan A, Goodwin M, Swanson MS (2014) RNA-protein interactions in unstable microsatellite diseases. Brain Res 1584:3–14. doi:10.1016/j.brainres.2014.03.039
Article
CAS
PubMed
Google Scholar
Monteys AM, Ebanks SA, Keiser MS, Davidson BL (2017) CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In Vitro and In Vivo. Mol Ther 25:12–23. doi:10.1016/j.ymthe.2016.11.010
Article
CAS
PubMed
Google Scholar
Mori K, Arzberger T, Grasser FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M et al (2013) Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol 126:881–893. doi:10.1007/s00401-013-1189-3
Article
CAS
PubMed
Google Scholar
Mori K, Lammich S, Mackenzie IR, Forne I, Zilow S, Kretzschmar H, Edbauer D, Janssens J, Kleinberger G, Cruts M et al (2013) hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations. Acta Neuropathol 125:413–423. doi:10.1007/s00401-013-1088-7
Article
CAS
PubMed
Google Scholar
Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C 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
Article
CAS
PubMed
Google Scholar
Moussavi-Baygi R, Mofrad MR (2016) Rapid Brownian Motion Primes Ultrafast Reconstruction of Intrinsically Disordered Phe-Gly Repeats Inside the Nuclear Pore Complex. Sci Rep 6:29991. doi:10.1038/srep29991
Article
CAS
PubMed
PubMed Central
Google Scholar
Muhlemann O, Mock-Casagrande CS, Wang J, Li S, Custodio N, Carmo-Fonseca M, Wilkinson MF, Moore MJ (2001) Precursor RNAs harboring nonsense codons accumulate near the site of transcription. Mol Cell 8:33–43
Article
CAS
PubMed
Google Scholar
Muranyi W, Haas J, Wagner M, Krohne G, Koszinowski UH (2002) Cytomegalovirus recruitment of cellular kinases to dissolve the nuclear lamina. Science 297:854–857. doi:10.1126/science.1071506
Article
CAS
PubMed
Google Scholar
Myers SJ, Huang Y, Genetta T, Dingledine R (2004) Inhibition of glutamate receptor 2 translation by a polymorphic repeat sequence in the 5'-untranslated leaders. J Neurosci 24:3489–3499. doi:10.1523/JNEUROSCI.4127-03.2004
Article
CAS
PubMed
Google Scholar
Nakamori M, Pearson CE, Thornton CA (2011) Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats. Hum Mol Genet 20:580–588. doi:10.1093/hmg/ddq501
Article
CAS
PubMed
Google Scholar
Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I (2001) SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10:1441–1448
Article
CAS
PubMed
Google Scholar
Neil AJ, Kim JC, Mirkin SM (2017) Precarious maintenance of simple DNA repeats in eukaryotes. BioEssays. doi:10.1002/bies.201700077
Nguyen L, Luu LM, Peng S, Serrano JF, Chan HY, Zimmerman SC (2015) Rationally Designed Small Molecules That Target Both the DNA and RNA Causing Myotonic Dystrophy Type 1. J Am Chem Soc 137:14180–14189. doi:10.1021/jacs.5b09266
Article
CAS
PubMed
Google Scholar
Niblock M, Smith BN, Lee YB, Sardone V, Topp S, Troakes C, Al-Sarraj S, Leblond CS, Dion PA, Rouleau GA et al (2016) Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD. Acta neuropathol Commun 4:18. doi:10.1186/s40478-016-0289-4
Article
PubMed
PubMed Central
CAS
Google Scholar
Nunes VS, Moretti NS (2017) Nuclear subcompartments: an overview. Cell Biol Int 41:2–7. doi:10.1002/cbin.10703
Article
PubMed
Google Scholar
O'Geen H, Yu AS, Segal DJ (2015) How specific is CRISPR/Cas9 really? Curr Opin Chem Biol 29:72–78. doi:10.1016/j.cbpa.2015.10.001
Article
PubMed
PubMed Central
CAS
Google Scholar
Oberle I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097–1102
Article
CAS
PubMed
Google Scholar
Ohshima K, Montermini L, Wells RD, Pandolfo M (1998) Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J Biol Chem 273:14588–14595
Article
CAS
PubMed
Google Scholar
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY (1993) Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4:221–226. doi:10.1038/ng0793-221
Article
CAS
PubMed
Google Scholar
Ozdilek BA, Thompson VF, Ahmed NS, White CI, Batey RT, Schwartz JC (2017) Intrinsically disordered RGG/RG domains mediate degenerate specificity in RNA binding. Nucleic Acids Res. doi:10.1093/nar/gkx460
Park H, Gonzalez AL, Yildirim I, Tran T, Lohman JR, Fang P, Guo M, Disney MD (2015) Crystallographic and Computational Analyses of AUUCU Repeating RNA That Causes Spinocerebellar Ataxia Type 10 (SCA10). Biochemistry 54:3851–3859. doi:10.1021/acs.biochem.5b00551
Article
CAS
PubMed
PubMed Central
Google Scholar
Paul S, Dansithong W, Jog SP, Holt I, Mittal S, Brook JD, Morris GE, Comai L, Reddy S (2011) Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex. J Biol Chem 286:38427–38438. doi:10.1074/jbc.M111.255224
Article
CAS
PubMed
PubMed Central
Google Scholar
Payseur BA, Jing P, Haasl RJ (2011) A genomic portrait of human microsatellite variation. Mol Biol Evol 28:303–312. doi:10.1093/molbev/msq198
Article
CAS
PubMed
Google Scholar
Pearson CE, Sinden RR (1996) Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 35:5041–5053. doi:10.1021/bi9601013
Article
CAS
PubMed
Google Scholar
Peng R, Lin G, Li J (2015) Potential Pitfalls of CRISPR/Cas9-mediated Genome Editing. The FEBS J. doi:10.1111/febs.13586
Pfister EL, Kennington L, Straubhaar J, Wagh S, Liu W, DiFiglia M, Landwehrmeyer B, Vonsattel JP, Zamore PD, Aronin N (2009) Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. Curr Biol 19:774–778. doi:10.1016/j.cub.2009.03.030
Article
CAS
PubMed
PubMed Central
Google Scholar
Pineda M, Moghadam F, Ebrahimkhani MR, Kiani S (2017) Engineered CRISPR Systems for Next Generation Gene Therapies. ACS Synthetic Biol. doi:10.1021/acssynbio.7b00011
Pluciennik A, Burdett V, Baitinger C, Iyer RR, Shi K, Modrich P (2013) Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLalpha endonuclease activation. Proc Natl Acad Sci U S A 110:12277–12282. doi:10.1073/pnas.1311325110
Article
CAS
PubMed
PubMed Central
Google Scholar
Polleys EJ, NCM H, Freudenreich CH (2017) Role of recombination and replication fork restart in repeat instability. DNA Repair 56:156–165. doi:10.1016/j.dnarep.2017.06.018
Article
CAS
PubMed
Google Scholar
Querido E, Gallardo F, Beaudoin M, Menard C, Chartrand P (2011) Stochastic and reversible aggregation of mRNA with expanded CUG-triplet repeats. J Cell Sci 124:1703–1714 Doi 2461242/jcs.073270
Article
CAS
PubMed
Google Scholar
Raca G, Siyanova EY, McMurray CT, Mirkin SM (2000) Expansion of the (CTG)(n) repeat in the 5'-UTR of a reporter gene impedes translation. Nucleic Acids Res 28:3943–3949
Article
CAS
PubMed
PubMed Central
Google Scholar
Ranum LP, Cooper TA (2006) RNA-mediated neuromuscular disorders. Annu Rev Neurosci 29:259–277. doi:10.1146/annurev.neuro.29.051605.113014
Article
CAS
PubMed
Google Scholar
Reddy K, Schmidt MH, Geist JM, Thakkar NP, Panigrahi GB, Wang YH, Pearson CE (2014) Processing of double-R-loops in (CAG).(CTG) and C9orf72 (GGGGCC).(GGCCCC) repeats causes instability. Nucleic Acids Res 42:10473–10487. doi:10.1093/nar/gku658
Article
PubMed
PubMed Central
CAS
Google Scholar
Reddy K, Zamiri B, Stanley SYR, Macgregor RB, 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
Article
CAS
PubMed
PubMed Central
Google Scholar
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L et al (2011) A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron 72:257–268. doi:10.1016/j.neuron.2011.09.010
Richard GF, Cyncynatus C, Dujon B (2003) Contractions and expansions of CAG/CTG trinucleotide repeats occur during ectopic gene conversion in yeast, by a MUS81-independent mechanism. J Mol Biol 326:769–782
Article
CAS
PubMed
Google Scholar
Richard GF, Goellner GM, McMurray CT, Haber JE (2000) Recombination-induced CAG trinucleotide repeat expansions in yeast involve the MRE11-RAD50-XRS2 complex. EMBO J 19:2381–2390. doi:10.1093/emboj/19.10.2381
Article
CAS
PubMed
PubMed Central
Google Scholar
Richard P, Manley JL (2016) R Loops and Links to Human Disease. J Mol Biol. doi:10.1016/j.jmb.2016.08.031
Rzuczek SG, Colgan LA, Nakai Y, Cameron MD, Furling D, Yasuda R, Disney MD (2017) Precise small-molecule recognition of a toxic CUG RNA repeat expansion. Nat Chem Biol 13:188–193. doi:10.1038/nchembio.2251
Article
CAS
PubMed
Google Scholar
Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T et al (1996) Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 14:277–284. doi:10.1038/ng1196-277
Article
CAS
PubMed
Google Scholar
Sanz LA, Hartono SR, Lim YW, Steyaert S, Rajpurkar A, Ginno PA, Xu X, Chedin F (2016) Prevalent, Dynamic, and Conserved R-Loop Structures Associate with Specific Epigenomic Signatures in Mammals. Mol Cell 63:167–178. doi:10.1016/j.molcel.2016.05.032
Article
CAS
PubMed
PubMed Central
Google Scholar
Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D et al (2013) Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease. Proc Natl Acad Sci U S A 110:2366–2370. doi:10.1073/pnas.1221891110
Article
CAS
PubMed
PubMed Central
Google Scholar
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S et al (2009) Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 85:544–557. doi:10.1016/j.ajhg.2009.09.019
Article
CAS
PubMed
PubMed Central
Google Scholar
Sawaya S, Bagshaw A, Buschiazzo E, Kumar P, Chowdhury S, Black MA, Gemmell N (2013) Microsatellite tandem repeats are abundant in human promoters and are associated with regulatory elements. PLoS One 8:e54710. doi:10.1371/journal.pone.0054710
Article
CAS
PubMed
PubMed Central
Google Scholar
Sawyer LA, Hennessy JM, Peixoto AA, Rosato E, Parkinson H, Costa R, Kyriacou CP (1997) Natural variation in a Drosophila clock gene and temperature compensation. Science 278:2117–2120
Article
CAS
PubMed
Google Scholar
Schmidt K, Butler JS (2013) Nuclear RNA surveillance: role of TRAMP in controlling exosome specificity. Wiley Interdiscip Rev RNA 4:217–231. doi:10.1002/wrna.1155
Article
CAS
PubMed
PubMed Central
Google Scholar
Schmidt MH, Pearson CE (2016) Disease-associated repeat instability and mismatch repair. DNA Repair 38:117–126. doi:10.1016/j.dnarep.2015.11.008
Article
CAS
PubMed
Google Scholar
Scoles DR, Ho MH, Dansithong W, Pflieger LT, Petersen LW, Thai KK, Pulst SM (2015) Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat. PLoS One 10:e0128769. doi:10.1371/journal.pone.0128769
Article
PubMed
PubMed Central
CAS
Google Scholar
Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, Schneider A, Richard S, Willemsen R, Elliott DJ et al (2010) Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J 29:1248–1261. doi:10.1038/emboj.2010.21
Article
CAS
PubMed
PubMed Central
Google Scholar
Shepard S, McCreary M, Fedorov A (2009) The peculiarities of large intron splicing in animals. PLoS One 4:e7853. doi:10.1371/journal.pone.0007853
Article
PubMed
PubMed Central
CAS
Google Scholar
Shi KY, Mori E, Nizami ZF, Lin Y, Kato M, Xiang S, Wu LC, Ding M, Yu Y, Gall JG et al (2017) Toxic PRn poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export. Proc Natl Acad Sci U S A 114:E1111–E1117. doi:10.1073/pnas.1620293114
Article
CAS
PubMed
PubMed Central
Google Scholar
Shin JW, Kim KH, Chao MJ, Atwal RS, Gillis T, MacDonald ME, Gusella JF, Lee JM (2016) Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9. Hum Mol Genet 25:4566–4576. doi:10.1093/hmg/ddw286
CAS
PubMed
Google Scholar
Shishkin AA, Voineagu I, Matera R, Cherng N, Chernet BT, Krasilnikova MM, Narayanan V, Lobachev KS, Mirkin SM (2009) Large-scale expansions of Friedreich's ataxia GAA repeats in yeast. Mol Cell 35:82–92. doi:10.1016/j.molcel.2009.06.017
Article
CAS
PubMed
PubMed Central
Google Scholar
Shoemaker CJ, Green R (2012) Translation drives mRNA quality control. Nat Struct Mol Biol 19:594–601. doi:10.1038/nsmb.2301
Article
CAS
PubMed
PubMed Central
Google Scholar
Shoubridge C, Gecz J (2012) Polyalanine tract disorders and neurocognitive phenotypes. Adv Exp Med Biol 769:185–203
Article
CAS
PubMed
Google Scholar
Shukla S, Parker R (2016) Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes. Trends Mol Med 22:615–628. doi:10.1016/j.molmed.2016.05.005
Article
CAS
PubMed
PubMed Central
Google Scholar
Skourti-Stathaki K, Proudfoot NJ, Gromak N (2011) Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination. Mol Cell 42:794–805. doi:10.1016/j.molcel.2011.04.026
Article
CAS
PubMed
PubMed Central