Transcriptionally repressive chromatin remodelling and CpG methylation in the presence of expanded CTG-repeats at the DM1 locus

Journal of Nucleic Acids

Volumn 2013, Issue , 2013, Pages

  Brouwer, Judith Rixt ^a,b   Huguet, Aline ^a,b   Nicole, Annie ^a,b   Munnich, Arnold ^a,b   Gourdon, Geneviève ^a,b  

^a HÔPITAL BROUSSAIS   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BISULFITE; CYCLINE; HISTONE H3; TRANSCRIPTION FACTOR CTCF;

ARTICLE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CPG ISLAND; DM1 GENE; DMPK GENE; DNA FLANKING REGION; DNA METHYLATION; DNA SEQUENCE; DNA STRUCTURE; GENE; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; HEART; MYOTONIC DYSTROPHY; PRIORITY JOURNAL; PROTEIN BINDING; SIX5 GENE; TRANSCRIPTION TERMINATION; TRANSGENIC MOUSE; TRINUCLEOTIDE REPEAT;

EID: 84893156204     PISSN: 20900201     EISSN: 2090021X     Source Type: Journal    
DOI: 10.1155/2013/567435     Document Type: Article

References (52)

1. Brouwer J. R., Willemsen R., Oostra B. A., Microsatellite repeat instability and neurological disease. BioEssays 2009 31 1 71 83 2-s2.0-59849089676 10.1002/bies.080122
2. Richards R. I., Sutherland G. R., Heritable unstable DNA sequences. Nature Genetics 1992 1 1 7 9 2-s2.0-0026849711
3. Aslanidis C., Jansen G., Amemiya C., Shutler G., Mahadevan M., Tsilfidis C., Chen C., Alleman J., Wormskamp N. G. M., Vooijs M., Buxton J., Johnson K., Smeets H. J. M., Lennon G. G., Carrano A. V., Korneluk R. G., Wieringa B., De Jong P. J., Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992 355 6360 548 551 2-s2.0-0026567370 10.1038/355548a0
4. Brook J. D., McCurrach M. E., Harley H. G., Buckler A. J., Church D., Aburatani H., Hunter K., Stanton V. P., Thirion J.-P., Hudson T., Sohn R., Zemelman B., Snell R. G., Rundle S. A., Crow S., Davies J., Shelbourne P., Buxton J., Jones C., Juvonen V., Johnson K., Harper P. S., Shaw D. J., Housman D. E., Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992 68 4 799 808 2-s2.0-0026566108
5. Fu Y.-H., Pizzuti A., Fenwick R. G. Jr., King J., Rajnarayan S., Dunne P. W., Dubel J., Nasser G. A., Ashizawa T., De Jong P., Wieringa B., Korneluk R., Perryman M. B., Epstein H. F., Caskey C. T., An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992 255 5049 1256 1258 2-s2.0-0026598119
6. Ashizawa T., Sarkar P. S., Myotonic dystrophy types 1 and 2. Handbook of Clinical Neurology 2011 101 193 237 2-s2.0-79954591424 10.1016/B978-0-08-045031- 5.00015-3
7. Castel A. L., Cleary J. D., Pearson C. E., Repeat instability as the basis for human diseases and as a potential target for therapy. Nature Reviews Molecular Cell Biology 2010 11 3 165 170 2-s2.0-77649144557 10.1038/nrm2854
8. Nakamori M., Pearson C. E., Thornton C. A., Bidirectional transcription stimulates expansion and contraction of expanded (CTG)(CAG) repeats. Human Molecular Genetics 2011 20 3 580 588 2-s2.0-78651099242 10.1093/hmg/ddq501
9. Dion V., Wilson J. H., Instability and chromatin structure of expanded trinucleotide repeats. Trends in Genetics 2009 25 7 288 297 2-s2.0-67649983121 10.1016/j.tig.2009.04.007
10. Taneja K. L., McCurrach M., Schalling M., Housman D., Singer R. H., Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. Journal of Cell Biology 1995 128 6 995 1002 2-s2.0-0028947317 10.1083/jcb.128.6.995
11. Sicot G., Gourdon G., Gomes-Pereira M., Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges. Human Molecular Genetics 2011 20 2 R116 R123 2-s2.0-84856034458
12. Perbellini R., Greco S., Sarra-Ferraris G., Cardani R., Capogrossi M. C., Meola G., Martelli F., Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1. Neuromuscular Disorders 2011 21 2 81 88 2-s2.0-78751567960 10.1016/j.nmd.2010.11.012
13. Rau F., Freyermuth F., Fugier C., Villemin J.-P., Fischer M.-C., Jost B., Dembele D., Gourdon G., Nicole A., Duboc D., Wahbi K., Day J. W., Fujimura H., Takahashi M. P., Auboeuf D., Dreumont N., Furling D., Charlet-Berguerand N., Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy. Nature Structural and Molecular Biology 2011 18 7 840 845 2-s2.0-79960066418 10.1038/nsmb.2067
14. Cho D. H., Thienes C. P., Mahoney S. E., Analau E., Filippova G. N., Tapscott S. J., Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Molecular Cell 2005 20 3 483 489 2-s2.0-27644525713 10.1016/j.molcel.2005.09.002 (Pubitemid 41572304)
15. Zu T., Gibbens B., Doty N. S., Gomes-Pereira M., Huguet A., Stone M. D., Margolis J., Peterson M., Markowski T. W., Ingram M. A. C., Nan Z., Forster C., Low W. C., Schoser B., Somia N. V., Clark H. B., Schmechel S., Bitterman P. B., Gourdon G., Swanson M. S., Moseley M., Ranum L. P. W., Non-ATG-initiated translation directed by microsatellite expansions. Proceedings of the National Academy of Sciences of the United States of America 2011 108 1 260 265 2-s2.0-78651105614 10.1073/pnas.1013343108
16. Wang Y.-H., Amirhaeri S., Kang S., Wells R. D., Griffith J. D., Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 1994 265 5172 669 671 2-s2.0-0027941198 (Pubitemid 24268278)
17. Volle C. B., Delaney S., CAG/CTG repeats alter the affinity for the histone core and the positioning of DNA in the nucleosome. Biochemistry 2012 51 9814 9825
18. Wang Y.-H., Griffith J., Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements. Genomics 1995 25 2 570 573 2-s2.0-0028932050 10.1016/0888-7543(95) 80061-P
19. Filippova G. N., Thienes C. P., Penn B. H., Cho D. H., Hu Y. J., Moore J. M., Klesert T. R., Lobanenkov V. V., Tapscott S. J., CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nature Genetics 2001 28 4 335 343 2-s2.0-0034935016 10.1038/ng570 (Pubitemid 32702422)
20. Otten A. D., Tapscott S. J., Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proceedings of the National Academy of Sciences of the United States of America 1995 92 12 5465 5469 2-s2.0-0029059218 10.1073/pnas.92.12.5465
21. Klesert T. R., Otten A. D., Bird T. D., Tapscott S. J., Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature Genetics 1997 16 4 402 406 2-s2.0-0030845879 10.1038/ng0897-402 (Pubitemid 27323310)
22. Savellev A., Everett C., Sharpe T., Webster Z., Festenstein R., DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 2003 422 6934 909 913 2-s2.0-0037464584 10.1038/nature01596 (Pubitemid 36520045)
23. Coffee B., Zhang F., Ceman S., Warren S. T., Reines D., Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile X syndrome. American Journal of Human Genetics 2002 71 4 923 932 2-s2.0-0036782129 (Pubitemid 135750522)
24. Libby R. T., Hagerman K. A., Pineda V. V., Lau R., Cho D. H., Baccam S. L., Axford M. M., Cleary J. D., Moore J. M., Sopher B. L., Tapscott S. J., Filippova G. N., Pearson C. E., La Spada A. R., CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination. PLoS Genetics 2008 4 11 2-s2.0-57149089871 10.1371/journal.pgen.1000257 e1000257
25. Sopher B. L., Ladd P. D., Pineda V. V., Libby R. T., Sunkin S. M., Hurley J. B., Thienes C. P., Gaasterland T., Filippova G. N., La Spada A. R., CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA. Neuron 2011 70 6 1071 1084 2-s2.0-79959306523 10.1016/j.neuron.2011.05.027
26. Goula A. V., Stys A., Chan J. P., Trottier Y., Festenstein R., Merienne K., Transcription elongation and tissue-specific somatic CAG instability. PLOS Genetics 2012 8 e1003051
27. Seznec H., Lia-Baldini A.-S., Duros C., Fouquet C., Lacroix C., Hofmann-Radvanyi H., Junien C., Gourdon G., Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Human Molecular Genetics 2000 9 8 1185 1194 2-s2.0-0034194141 (Pubitemid 30248604)
28. Gomes-Pereira M., Foiry L., Nicole A., Huguet A., Junien C., Munnich A., Gourdon G., CTG trinucleotide repeat "big jumps": large expansions, small mice. PLoS Genetics 2007 3 4, article e52 2-s2.0-34249977677 10.1371/journal.pgen.0030052 (Pubitemid 46683465)
29. Gourdon G., Radvanyi F., Lia A.-S., Duros C., Blanche M., Abitbol M., Junien C., Hofmann-Radvanyi H., Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nature Genetics 1997 15 2 190 192 2-s2.0-0031038809 10.1038/ng0297-190 (Pubitemid 27061641)
30. Lia A.-S., Seznec H., Hofmann-Radvanyi H., Radvanyi F., Duros C., Saquet C., Blanche M., Junien C., Gourdon G., Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. Human Molecular Genetics 1998 7 8 1285 1291 2-s2.0-0031827446 (Pubitemid 28383062)
31. Huguet A., Medja F., Nicole A., Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus. PLOS Genetics 2012 8 e1003043
32. Seznec H., Agbulut O., Sergeant N., Savouret C., Ghestem A., Tabti N., Willer J.-C., Ourth L., Duros C., Brisson E., Fouquet C., Butler-Browne G., Delacourte A., Junien C., Gourdon G., Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Human Molecular Genetics 2001 10 23 2717 2726 2-s2.0-0035510133 (Pubitemid 33133413)
33. Guiraud-Dogan C., Huguet A., Gomes-Pereira M., Brisson E., Bassez G., Junien C., Gourdon G., DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice. Biochimica et Biophysica Acta 2007 1772 11-12 1183 1191 2-s2.0-37049035297 10.1016/j.bbadis.2007.08.004 (Pubitemid 350245438)
34. Gomes-Pereira M., Foiry L., Gourdon G., Wells R., Ashizawa T., Transgenic mouse models of unstable trinucleotide repeats: toward an understanding of disease-associated repeat size mutation. Genetic Instabilities and Neurological Diseases 2006 2nd Academic Press 563 583
35. Gomes-Pereira M., Cooper T. A., Gourdon G., Myotonic dystrophy mouse models: towards rational therapy development. Trends in Molecular Medicine 2011 17 9 506 517 2-s2.0-80052033608 10.1016/j.molmed.2011.05.004
36. Brouwer J. R., Foiry L., Gourdon G., Cell recovery from DM1 transgenic mouse tissue to study (CTG) n instability and DM1 pathogenesis. Methods in Molecular Biology 2013 1010 253 264
37. Tomé S., Holt I., Edelmann W., Morris G. E., Munnich A., Pearson C. E., Gourdon G., MSH2 ATPase domain mutation affects CTG•CAG repeat instability in transgenic mice. PLoS Genetics 2009 5 5 2-s2.0-67149083322 10.1371/journal.pgen.1000482 e1000482
38. Bock C., Reither S., Mikeska T., Paulsen M., Walter J., Lengauer T., BiQ Analyzer: visualization and quality control for DNA methylation data from bisulfite sequencing. Bioinformatics 2005 21 21 4067 4068 2-s2.0-27744577751 10.1093/bioinformatics/bti652 (Pubitemid 41631851)
39. López Castel A., Nakamori M., Tomé S., Chitayat D., Gourdon G., Thornton C. A., Pearson C. E., Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Human Molecular Genetics 2011 20 1 1 15 2-s2.0-79956297128
40. Moldovan G.-L., Pfander B., Jentsch S., PCNA, the maestro of the replication fork. Cell 2007 129 4 665 679 2-s2.0-34249066085 10.1016/j.cell.2007.05.003 (Pubitemid 46802385)
41. Jin B., Li Y., Robertson K. D., DNA methylation: superior or subordinate in the epigenetic hierarchy? Genes and Cancer 2011 2 6 607 617 2-s2.0-80054790080 10.1177/1947601910393957
42. Pluciennik A.,Dzantiev L.,Iyer R. R.,Constantin N.,Kadyrov F.A.,Modrich P.,PCNA function in the activation and strand direction of MutL endonuclease in mismatch repair. Proceedings of the National Academy of Sciences of the United States of America 2010 107 37 16066 16071 2-s2.0-77957979862 10.1073/pnas.1010662107
43. Cleary J. D., Tomé S., Castel A. L., Panigrahi G. B., Foiry L., Hagerman K. A., Sroka H., Chitayat D., Gourdon G., Pearson C. E., Tissue-and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus. Nature Structural and Molecular Biology 2010 17 9 1079 1087 2-s2.0-77956345129 10.1038/nsmb.1876
44. McConkie-Rosell A., Lachiewicz A. M., Spiridigliozzi G. A., Tarleton J., Schoenwald S., Phelan M. C., Goonewardena P., Ding X., Brown W. T., Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. American Journal of Human Genetics 1993 53 4 800 809 2-s2.0-0027486670 (Pubitemid 23319995)
45. Pieretti M., Zhang F., Fu Y.-H., Warren S. T., Oostra B. A., Caskey C. T., Nelson D. L., Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991 66 4 817 822 2-s2.0-0025833298 10.1016/0092-8674(91)90125-I (Pubitemid 121001715)
46. Laffita-Mesa J. M., Bauer P. O., Kourí V., Peña Serrano L., Roskams J., Almaguer Gotay D., Montes Brown J. C., Martínez Rodríguez P. A., González-Zaldívar Y., Almaguer Mederos L., Cuello-Almarales D., Aguiar Santiago J., Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications. Human Genetics 2011 131 625 638 2-s2.0-80054940571 10.1007/s00439-011-1101-y
47. Pant V., Kurukuti S., Pugacheva E., Shamsuddin S., Mariano P., Renkawitz R., Klenova E., Lobanenkov V., Ohlsson R., Mutation of a Single CTCF Target Site within the H19 Imprinting Control Region Leads to Loss of Igf2 Imprinting and Complex Patterns of de Novo Methylation upon Maternal Inheritance. Molecular and Cellular Biology 2004 24 8 3497 3504 2-s2.0-1842505303 10.1128/MCB.24.8.3497- 3504.2004 (Pubitemid 38452088)
48. Schoenherr C. J., Levorse J. M., Tilghman S. M., CTCF maintains differential methylation at the Igf2/H19 locus. Nature Genetics 2003 33 1 66 69 2-s2.0-0037228669 10.1038/ng1057 (Pubitemid 36068684)
49. Coffee B., Zhang F., Warren S. T., Reines D., Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells. Nature Genetics 1999 22 1 98 101 2-s2.0-0032905253 10.1038/8807 (Pubitemid 29214814)
50. Nan X., Ng H.-H., Johnson C. A., Laherty C. D., Turner B. M., Eisenman R. N., Bird A., Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 1998 393 6683 386 389 2-s2.0-0032574977 10.1038/30764 (Pubitemid 28269714)
51. van Leeuwen F., van Steensel B., Histone modifications: from genome-wide maps to functional insights. Genome Biology 2005 6 6, article 113 2-s2.0-21044433480 10.1186/gb-2005-6-6-113 (Pubitemid 40872770)
52. Singh N. P., Madabhushi S. R., Srivastava S., Senthilkumar R., Neeraja C., Khosla S., Mishra R. K., Epigenetic profile of the euchromatic region of human y chromosome. Nucleic Acids Research 2011 39 9 3594 3606 2-s2.0-79956033102 10.1093/nar/gkq1342