Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci

BMC Molecular Biology

Volumn 10, Issue , 2009, Pages

  Chen, I Cheng ^a   Lin, Hsuan Yuan ^a   Lee, Ghin Chueh ^a   Kao, Shih Huan ^a   Chen, Chiung Mei ^b   Wu, Yih Ru ^b   Hsieh Li, Hsiu Mei ^a   Su, Ming Tsan ^a   Lee Chen, Guey Jen ^a  

^a NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^b CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ANNEXIN; COMPLEMENTARY DNA; CYTOSINE; DACTINOMYCIN; DOXYCYCLINE; GUANINE; HISTONE; HISTONE ANTIBODY; POLYGLUTAMINE; PROTEIN ATXN8; RNA; SPINOCEREBELLAR ATAXIA TYPE 8 PROTEIN; STAUROSPORINE; UNCLASSIFIED DRUG; URIDINE; ATAXIN 8 PROTEIN, HUMAN; NERVE PROTEIN;

ACETYLATION; ARTICLE; CELL LINE; CONTROLLED STUDY; EPIGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE REPRESSION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; NEUROPATHOLOGY; NUCLEOTIDE REPEAT; PROTEIN FOLDING; PROTEIN INDUCTION; REAL TIME POLYMERASE CHAIN REACTION; RNA PROCESSING; RNA STABILITY; SPINOCEREBELLAR DEGENERATION; GENETIC EPIGENESIS; GENETICS; METABOLISM; METHYLATION; TRINUCLEOTIDE REPEAT;

ACETYLATION; CELL LINE; EPIGENESIS, GENETIC; HISTONES; HUMANS; METHYLATION; NERVE TISSUE PROTEINS; RNA; RNA STABILITY; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 61449095749     PISSN: None     EISSN: 14712199     Source Type: Journal    
DOI: 10.1186/1471-2199-10-9     Document Type: Article

References (36)

1. Koob MD Moseley ML Schut LJ Benzow KA Bird TD Day JW Ranum LP An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nature genetics 1999, 21(4):379-384. 10.1038/7710 10192387
2. Stevanin G Herman A Durr A Jodice C Frontali M Agid Y Brice A Are (CTG)n expansions at the SCA8 locus rare polymorphisms? Nature genetics 2000, 24(3):213. author reply 215. 10.1038/73408 10700167
3. Ikeda Y Dalton JC Moseley ML Gardner KL Bird TD Ashizawa T Seltzer WK Pandolfo M Milunsky A Potter NT et al Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia American journal of human genetics 2004, 75(1):3-16. 1182005 15152344 10.1086/422014
4. Worth PF Houlden H Giunti P Davis MB Wood NW Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia Nature genetics 2000, 24(3):214-215. 10.1038/73411 10700168
5. Sobrido MJ Cholfin JA Perlman S Pulst SM Geschwind DH SCA8 repeat expansions in ataxia: A controversial association Neurology 2001, 57(7):1310-1312. 11591855
6. Mosemiller AK Dalton JC Day JW Ranum LP Molecular genetics of spinocerebellar ataxia type 8 (SCA8) Cytogenetic and genome research 2003, 100(1-4):175-183. 10.1159/000072852
7. Schols L Bauer I Zuhlke C Schulte T Kolmel C Burk K Topka H Bauer P Przuntek H Riess O Do CTG expansions at the SCA8 locus cause ataxia? Annals of neurology 2003, 54(1):110-115. 10.1002/ana.10608 12838526
8. Ikeda Y Daughters RS Ranum LP Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes Cerebellum (London, England); 2008.
9. Ranum LP Day JW Pathogenic RNA repeats: An expanding role in genetic disease Trends Genet 2004, 20(10):506-512. 10.1016/j.tig.2004.08.004 15363905
10. He Y Zu T Benzow KA Orr HT Clark HB Koob MD Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits J Neurosci 2006, 26(39):9975-9982. 10.1523/ JNEUROSCI.2595-06.2006 17005861
11. Moseley ML Zu T Ikeda Y Gao W Mosemiller AK Daughters RS Chen G Weatherspoon MR Clark HB Ebner TJ et al Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8 Nature genetics 2006, 38(7):758-769. 10.1038/ng1827 16804541
12. Fu YH Pizzuti A Fenwick RG Jr King J Rajnarayan S Dunne PW Dubel J Nasser GA Ashizawa T de Jong P et al An unstable triplet repeat in a gene related to myotonic muscular dystrophy Science 1992, 255(5049):1256-1258. 10.1126/science.1546326 1546326
13. Taneja KL McCurrach M Schalling M Housman D Singer RH Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues The Journal of cell biology 1995, 128(6):995-1002. 2120416 7896884 10.1083/jcb.128.6.995
14. Davis BM McCurrach ME Taneja KL Singer RH Housman DE Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts Proceedings of the National Academy of Sciences of the United States of America 1997, 94(14):7388-7393. 23831 9207101 10.1073/ pnas.94.14.7388
15. Otten AD Tapscott SJ 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. 41715 7777532 10.1073/pnas.92.12.5465
16. Timchenko LT Miller JW Timchenko NA DeVore DR Datar KV Lin L Roberts R Caskey CT Swanson MS Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy Nucleic acids research 1996, 24(22):4407-4414. 146274 8948631 10.1093/nar/ 24.22.4407
17. Kino Y Mori D Oma Y Takeshita Y Sasagawa N Ishiura S Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats Human molecular genetics 2004, 13(5):495-507. 10.1093/hmg/ddh056 14722159
18. Furuya H Shinnoh N Ohyagi Y Ikezoe K Kikuchi H Osoegawa M Fukumaki Y Nakabeppu Y Hayashi T Kira J Some flavonoids and DHEA-S prevent the cis-effect of expanded CTG repeats in a stable PC12 cell transformant Biochemical pharmacology 2005, 69(3):503-516. 10.1016/j.bcp.2004.10.005 15652241
19. Rudnicki DD Holmes SE Lin MW Thornton CA Ross CA Margolis RL Huntington's disease - like 2 is associated with CUG repeat-containing RNA foci Annals of neurology 2007, 61(3):272-282. 10.1002/ana.21081 17387722
20. Shaw G Morse S Ararat M Graham FL Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells Faseb J 2002, 16(8):869-871. 11967234
21. Anborgh PH Godin C Pampillo M Dhami GK Dale LB Cregan SP Truant R Ferguson SS Inhibition of metabotropic glutamate receptor signaling by the huntingtin-binding protein optineurin The Journal of biological chemistry 2005, 280(41):34840-34848. 10.1074/jbc.M504508200 16091361
22. Handa V Goldwater D Stiles D Cam M Poy G Kumari D Usdin K Long CGG-repeat tracts are toxic to human cells: Implications for carriers of Fragile × premutation alleles FEBS letters 2005 579 12 2702 2708 10.1016/j.febslet.2005.04.004 15862312 2005, 579(12):2702-2708. 10.1016/ j.febslet.2005.04.004 15862312
23. Strahl BD Allis CD The language of covalent histone modifications Nature 2000, 403(6765):41-45. 10.1038/47412 10638745
24. Chen KY Pan H Lin MJ Li YY Wang LC Wu YC Hsiao KM Length-dependent toxicity of untranslated CUG repeats on Caenorhabditis elegans Biochemical and biophysical research communications 2007, 352(3):774-779. 10.1016/j.bbrc.2006.11.102
25. Saveliev 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. 10.1038/nature01596 12712207
26. Bannister AJ Zegerman P Partridge JF Miska EA Thomas JO Allshire RC Kouzarides T Selective recognition of methylated lysine 9 on histone H3 by the HP1 chromo domain Nature 2001, 410(6824):120-124. 10.1038/ 35065138 11242054
27. Greene E Mahishi L Entezam A Kumari D Usdin K Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia Nucleic acids research 2007, 35(10):3383-3390. 1904289 17478498 10.1093/nar/gkm271
28. Kim JK Samaranayake M Pradhan S Epigenetic mechanisms in mammals Cell Mol Life Sci; 2008. 18344022
29. Tian B White RJ Xia T Welle S Turner DH Mathews MB Thornton CA Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR RNA 2000, 6(1):79-87. 1369895 10668800 10.1017/S1355838200991544
30. Houseley JM Wang Z Brock GJ Soloway J Artero R Perez-Alonso M O'Dell KM Monckton DG Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila Human molecular genetics 2005, 14(6):873-883. 10.1093/hmg/ddi080 15703191
31. Ranum LP Day JW Myotonic dystrophy: Clinical and molecular parallels between myotonic dystrophy type 1 and type 2 Current neurology and neuroscience reports 2002, 2(5):465-470. 10.1007/s11910-002-0074-6
32. Koch KS Leffert HL Giant hairpins formed by CUG repeats in myotonic dystrophy messenger RNAs might sterically block RNA export through nuclear pores Journal of theoretical biology 1998, 192(4):505-514. 10.1006/jtbi.1998.0679 9680723
33. Ebralidze A Wang Y Petkova V Ebralidse K Junghans RP RNA leaching of transcription factors disrupts transcription in myotonic dystrophy Science 2004, 303(5656):383-387. 10.1126/science.1088679 14657503
34. Nemes JP Benzow KA Moseley ML Ranum LP Koob MD The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1) Human molecular genetics 2000, 9(10):1543-1551. 10.1093/hmg/9.10.1543 10888605
35. Wu YR Lin HY Chen CM Gwinn-Hardy K Ro LS Wang YC Li SH Hwang JC Fang K Hsieh-Li HM et al Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease Clinical genetics 2004, 65(3):209-214. 10.1111/j.0009-9163.2004.00213.x 14756671
36. Moseley ML Schut LJ Bird TD Koob MD Day JW Ranum LP SCA8 CTG repeat: En masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance Human molecular genetics 2000, 9(14):2125-2130. 10.1093/hmg/9.14.2125 10958651