Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathy

American Journal of Pathology

Volumn 171, Issue 4, 2007, Pages 1312-1323

  Barrachina, Maria ^a   Moreno, Jesús ^a   Juvés, Salvador ^a   Moreno, Dolores ^a   Olivé, Montse ^a   Ferrer, Isidre ^a  

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERNEXIN; COMPLEMENTARY DNA; MESSENGER RNA; SMALL INTERFERING RNA; SYNAPTOPHYSIN; SYNAPTOSOMAL ASSOCIATED PROTEIN 25; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NRSF; UBIQUITIN THIOLESTERASE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BRAIN NERVE CELL; CHROMATIN IMMUNOPRECIPITATION; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DOWN REGULATION; FEMALE; GENE MUTATION; GENE TARGETING; GENETIC CODE; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; INTRON; MALE; MYOPATHY; MYOTILINOPATHY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN INTERACTION; PROTEIN LOCALIZATION; SILENCER GENE; UPREGULATION;

EID: 35348870927     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.2353/ajpath.2007.070520     Document Type: Article

References (54)

1. De Bleecker JL, Engel AG, Ertl BB: Myofibrillar myopathy with abnormal foci of desmin positivity: II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996, 55:563-577
2. Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA: Myofibrillar myopathy with abnormal foci of desmin positivity: I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996, 55:549-562
3. Nakano S, Engel AG, Akiguchi I, Kimura J: Myofibrillar myopathy: III. Abnormal expression of cyclin-dependent kinases and nuclear proteins. J Neuropathol Exp Neurol 1997, 56:850-856
4. Goebel HH, Goldfarb L: Desmin-related myopathies. Structural and Molecular Basis of Skeletal Muscle Diseases. Edited by G Karpati. Basel, Switzerland, ISN Neuropath Press, 2002, pp 70-73
5. Goldfarb LG, Vioart P, Goebel HH, Dalakas MC: Desmin myopathy. Brain 2004, 127:723-734
6. Olivé M, Goldfarb L, Moreno D, Laforet E, Dagvadorj A, Sambuughin N, Martinez-Matos JA, Martinez F, Alio J, Farrero E, Vicart P, Ferrer I: Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci 2004, 219:125-137
7. Selcen D, Ohno K, Engel AG: Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 2004, 127:439-451
8. Fischer D, Clemen CS, Olive M, Ferrer I, Goudeau B, Roth U, Badorf P, Wattjes MP, Lutterbey G, Kral T, van der Ven PF, Furst DO, Vicart P, Goldfarb LG, Moza M, Carpen O, Reichelt J, Schroder R: Different early pathogenesis in myotilinopathy compared to primary desminopathy. Neuromuscul Disord 2006, 16:361-367
9. Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC: Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998, 19:402-403
10. Muñoz-Mármol AM, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, Vela E, Mate JL, Coll J, Fernandez-Figueras MT, Navas-Palacios JJ, Ariza A, Fuchs E: A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 1998, 95:11312-11317
11. Vicart P, Caron A, Guicheney P, Li Z, Prevost MC, Faure A, Chateau D, Chapon F, Tome F, Dupret JM, Paulin D, Fardeau M: A missense mutation in the alphaB-crystallln chaperone gene causes desmin-related myopathy. Nat Genet 1998, 20:92-95
12. Selcen D, Engel AG: Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol 2003, 54:804-810
13. Ferreiro A, Ceuterick-de Groote C, Marks JJ, Goemans N, Schreiber G, Hanefeld F, Fardeau M, Martin JJ, Goebel HH, Richard P, Guicheney P, Bonnemann CG: Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann Neurol 2004, 55:676-686
14. Selcen D, Engel AG: Mutations in myotilin cause myofibrillar myopathy. Neurology 2004, 62:1363-1371
15. Olivé M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I: Myotilinopathy: refining the clinical and myopathological phenotype. Brain 2005, 128:2315-2326
16. Selcen D, Engel AG: Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005, 57:269-276
17. Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A: A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005, 77:297-304
18. Ferrer I, Martin B, Castano JG, Lucas JJ, Moreno D, Olive M: Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis. J Neuropathol Exp Neurol 2004, 63:484-498
19. Ferrer I, Carmona M, Blanco R, Moreno D, Torrejón-Escribano B, Olivé M: Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis. Brain Pathol 2005, 15:101-108
20. +1) and p62 in myotilinopathies and desminopathies. Neuropathol Appl Neurobiol 2007, (in press)
21. Wilkinson KD, Lee KM, Deshpande S, Duerksen-Hughes P, Boss JM, Pohl J: The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-terminal hydrolase. Science 1989, 246:670-673
22. Solano SM, Miller DW, Augood SJ, Young AB, Penney Jr JB: Expression of alpha-synuclein, parkin, and ubiquitin carboxy-terminal hydrolase L1 mRNA in human brain: genes associated with familial Parkinson's disease. Ann Neurol 2000, 47:201-210
23. Kurihara LJ, Semenova E, Levorse JM, Tilghman SM: Expression and functional analysis of Uch-L3 during mouse development. Mol Cell Biol 2000, 20:2498-2504
24. Liu Y, Fallon L, Lashuel HA, Liu Z, Lansbury PT: The UCHL1 gene encodes two opposing enzymatic activities that affect α-synuclein degradation and Parkinson's disease susceptibility. Cell 2002, 111:209-218
25. Osaka H, Wang YL, Takada K, Takizawa S, Setsuie R, Li H, Sato Y, Nishikawa K, Sun YJ, Sakurai M, Harada T, Hara Y, Kimura I, Chiba S, Namikawa K, Kiyama H, Noda M, Aoki S, Wada K: Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron. Hum Mol Genet 2003, 12:1945-1958
26. Chong JA, Tapia-Ramirez J, Kim S, Toledo-Aral JJ, Zheng Y, Boutros MC, Altshuller YM, Frohman MA, Kraner SD, Mandel G: REST: a mammalian silencer protein that restricts sodium channel gene expression to neurons. Cell 1995, 80:949-957
27. Schoenherr CJ, Anderson DJ: The neuron-restrictive silencer factor (NRSF): a coordinate repressor of multiple neuron-specific genes. Science 1995, 267:1360-1363
28. Bruce AW, Donaldson IJ, Wood IC, Yerbury SA, Sadowski MI, Chapman M, Gottgens B, Buckley NJ: Genome-wide analysis of repressor element 1 silencing transcription factor/neuron-restrictive silencing factor (REST/NRSF) target genes. Proc Natl Acad Sci USA 2004, 101:10458-10463
29. Barrachina M, Castano E, Ferrer I: TaqMan PCR assay in the control of RNA normalization in human post-mortem brain tissue. Neurochem Int 2006, 49:276-284
30. Lietz M, Hohl M, Thiel G: RE-1 silencing transcription factor (REST) regulates human synaptophysin gene transcription through an intronic sequence-specific DNA-binding site. Eur J Biochem 2003, 270:2-9
31. Cartharius K, Freeh K, Grote K, Klocke B, Haltmeier M, Klingenhoff A, Frisch M, Bayerlein M, Werner T: Matlnspector and beyond: promoter analysis based on transcription factor binding sites. Bioinformatics 2005, 21:2933-2942
32. Tapia-Ramirez J, Eggen BJ, Peral-Rubio MJ, Toledo-Aral JJ, Mandel G: A single zinc finger motif in the silencing factor REST represses the neural-specific type II sodium channel promoter. Proc Natl Acad Sci USA 1997, 94:1177-1182
33. Huang Y, Myers SJ, Dingledine R: Transcriptional repression by REST: recruitment of Sin3A and histone deacetylase to neuronal genes. Nat Neurosci 1999, 2:867-872
34. Ballas N, Battaglioli E, Atouf F, Andres ME, Chenoweth J, Anderson ME, Burger C, Moniwa M, Davie JR, Bowers WJ, Federoff HJ, Rose DW, Rosenfeld MG, Brehm P, Mandel G: Regulation of neuronal traits by a novel transcriptional complex. Neuron 2001, 31:353-365
35. Ballas N, Grunseich C, Lu DD, Speh JC, Mandel G: REST and its corepressors mediate plasticity of neuronal gene chromatin throughout neurogenesis. Cell 2005, 121:645-657
36. Chen ZF, Paquette AJ, Anderson DJ: NRSF/REST is required in vivo for repression of multiple neuronal target genes during embryogenesis. Nat Genet 1998, 20:136-142
37. Paquette AJ, Perez SE, Anderson DJ: Constitutive expression of the neuron-restrictive silencer factor (NRSF)/REST in differentiating neurons disrupts neuronal gene expression and causes axon pathfinding errors in vivo. Proc Natl Acad Sci USA 2000, 97:12318-12323
38. Schoenherr CJ, Paquette AJ, Anderson DJ: Identification of potential target genes for the neuron-restrictive silencer factor. Proc Natl Acad Sci USA 1996, 93:9881-9886
39. Thiel G, Lietz M, Cramer M: Biological activity and modular structure of RE-1-silencing transcription factor (REST), a repressor of neuronal genes. J Biol Chem 1998, 273:26891-26899
40. Zhao N, Hashida H, Takahashi N, Sakaki Y: Cloning and sequence analysis of the human SNAP25 cDNA. Gene 1994, 145:313-314
41. Fliegner KH, Kaplan MP, Wood TL, Pintar JE, Liem RK: Expression of the gene for the neuronal intermediate filament protein α-internexin coincides with the onset of neuronal differentiation in the developing rat nervous system. J Comp Neurol 1994, 342:161-173
42. Day IN, Hinks LJ, Thompson RJ: The structure of the human gene encoding protein gene product 9.5 (PGP9.5), a neuron-specific ubiquitin C-terminal hydrolase. Biochem J 1990, 268:521-524
43. Edwards YH, Fox MF, Povey S, Hinks LJ, Thompson RJ, Day IN: The gene for human neuron specific ubiquitin C-terminal hydrolase (UCHL1, PGP95) maps to chromosome 4p14. Ann Hum Genet 1991, 55:273-278
44. Mann DA, Trowern AR, Lavender FL, Whittaker PA, Thompson RJ: Identification of evolutionary conserved regulatory sequences in the 5′ untranscribed region of the neural-specific ubiquitin C-terminal hydrolase (PGP9.5) gene. J Neurochem 1996, 66:35-46
45. Long EM, Long MA, Tsirigotis M, Gray DA: Stimulation of the murine Uchl1 gene promoter by the B-Myb transcription factor. Lung Cancer 2003, 42:9-21
46. Bittencourt Rosas SL, Caballero OL, Dong SM, da Costa Carvalho Mda G, Sidransky D, Jen J: Methylation status in the promoter region of the human PGP9.5 gene in cancer and normal tissues. Cancer Lett 2001, 170:73-79
47. Lunyak VV, Burgess R, Prefontaine GG, Nelson C, Sze SH, Chenoweth J, Schwartz P, Pevzner PA, Glass C, Mandel G, Rosenfeld MG: Corepressor-dependent silencing of chromosomal regions encoding neuronal genes. Science 2002, 298:1747-1752
48. Wu J, Xie X: Comparative sequence analysis reveals an intricate network among REST, CREB and miRNA in mediating neuronal gene expressien. Genome Biol 2006, 7:R85
49. Mortazavi A, Thompson EC, Garcia ST, Myers RM, Wold B: Comparative genomics modeling of the NRSF/REST repressor network: from single conserved sites to genome-wide repertoire. Genome Res 2006, 16:1208-1221
50. Sauerwald A, Hoesche C, Oschwald R, Kilimann MW: The 5′-flanking region of the synapsin I gene: a G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function. J Biol Chem 1990, 265:14932-14937
51. Oliva D, Cali L, Feo S, Giallongo A: Complete structure of the human gene encoding neuron-specific enolase. Genomics 1991, 10:157-165
52. Trowern AR, Mann DA: A bi-functional activator/repressor element required for transcriptional activity of the human UCH-L1 gene assembles a neuron-specific protein: single-strand DNA complex. Neurosci Lett 1999, 272:25-28
53. Palm K, Belluardo N, Metsis M, Timmusk T: Neuronal expression of zinc finger transcription factor REST/NRSF/XBR gene. J Neurosci 1998, 18:1280-1296
54. Conaco C, Otto S, Han JJ, Mandel G: Reciprocal actions of REST and a microRNA promote neuronal identity. Proc Natl Acad Sci USA 2006, 103:2422-2427