Corrigendum: Messenger RNA processing is altered in autosomal dominant leukodystrophy [Human Molecular Genetics, 24 (2015) (2746-2756)] DOI:10.1093/hmg/ddv034;Messenger RNA processing is altered in autosomal dominant leukodystrophy

Human Molecular Genetics

Volumn 24, Issue 10, 2015, Pages 2746-2756

  Bartoletti Stella, Anna ^a   Gasparini, Laura ^b   Giacomini, Caterina ^b   Corrado, Patrizia ^a   Terlizzi, Rossana ^a,c   Giorgio, Elisa ^d   Magini, Pamela ^e   Seri, Marco ^e   Baruzzi, Agostino ^c   Parchi, Piero ^a,c   Brusco, Alfredo ^d,f   Cortelli, Pietro ^a,c   Capellari, Sabina ^a,c  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b ISTITUTO ITALIANO DI TECNOLOGIA   (Italy)

^c BELLARIA HOSPITAL   (Italy)

^d UNIVERSITY OF TURIN   (Italy)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN; LAMIN B1; MESSENGER RNA; MYELIN PROTEIN; POLYPYRIMIDINE TRACT BINDING PROTEIN; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; RIBONUCLEOPROTEIN POLYPYRIMIDINE TRACT BINDING PROTEIN BINDING 2; RNA BINDING PROTEIN; UNCLASSIFIED DRUG; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; LAMIN B; RAVER2 PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT LEUKODYSTROPHY; BONE DEVELOPMENT; CHROMOSOME 1; CHROMOSOME SEGREGATION; CONTROLLED STUDY; CYTOSKELETON; DOWN REGULATION; EMBRYO; EMBRYO DEVELOPMENT; FIBROBLAST; GENE DUPLICATION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENOMICS; HUMAN; HUMAN TISSUE; LEUKODYSTROPHY; MOUSE; NONHUMAN; OXIDATIVE STRESS; PRIORITY JOURNAL; RNA METABOLISM; RNA PROCESSING; UPREGULATION; ANIMAL; GENE EXPRESSION PROFILING; GENETICS; KNOCKOUT MOUSE; LEUKOCYTE; METABOLISM; PELIZAEUS MERZBACHER DISEASE;

MUS;

ALTERNATIVE SPLICING; ANIMALS; FIBROBLASTS; GENE DUPLICATION; GENE EXPRESSION PROFILING; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEINS; HUMANS; LAMIN TYPE B; LEUKOCYTES; MICE; MICE, KNOCKOUT; PELIZAEUS-MERZBACHER DISEASE; UP-REGULATION;

EID: 84929740976     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddx225     Document Type: Erratum

References (65)

1. Cortelli, P., Terlizzi, R., Capellari, S. and Benarroch, E. (2012) Nuclear lamins: functions and clinical implications. Neurology, 79, 1726-1731.
2. Padiath, Q.S., Saigoh, K., Schiffmann, R., Asahara, H., Yamada, T., Koeppen, A., Hogan, K., Ptácek, L.J. and Fu, Y.H. (2006) Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat. Genet., 38, 1114-1123.
3. Giorgio, E., Rolyan, H., Kropp, L., Chakka, A.B., Yatsenko, S., Di Gregorio, E., Lacerenza, D., Vaula, G., Talarico, F., Mandich, P. et al. (2013) Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression. Hum. Mutat., 34, 1160-1171.
4. Brussino, A., Vaula, G., Cagnoli, C., Panza, E., Seri, M., Di Gregorio, E., Scappaticci, S., Camanini, S., Daniele, D., Bradac, G.B. et al. (2010) A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. Eur. J. Neurol., 17, 541-549.
5. Lenz-Böhme, B., Wismar, J., Fuchs, S., Reifegerste, R., Buchner, E., Betz, H. and Schmitt, B. (1997) Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae. J. Cell Biol., 137, 1001-1016.
6. Liu, J., Rolef Ben-Shahar, T., Riemer, D., Treinin, M., Spann, P., Weber, K., Fire, A. and Gruenbaum, Y. (2000) Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes. Mol. Biol. Cell, 11, 3937-3947.
7. Vergnes, L., Péterfy, M., Bergo, M.O., Young, S.G. and Reue, K. (2004) Lamin B1 is required for mouse development and nuclear integrity. Proc. Natl. Acad. Sci. USA, 101, 10428-10433.
8. Coffinier, C., Jung, H.J., Nobumori, C., Chang, S., Tu, Y., Barnes, R.H. 2nd, Yoshinaga, Y., de Jong, P.J., Vergnes, L., Reue, K. et al. (2011) Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neurons. Mol. Biol. Cell, 22, 4683-4693.
9. Kim, Y., Sharov, A.A., McDole, K., Cheng, M., Hao, H., Fan, C. M., Gaiano, N., Ko, M.S. and Zheng, Y. (2011) Mouse B-type lamins are required for proper organogenesis but not by embryonic stem cells. Science, 334, 1706-1710.
10. Takamori, Y., Tamura, Y., Kataoka, Y., Cui, Y., Seo, S., Kanazawa, T., Kurokawa, K. and Yamada, H. (2007) Differential expression of nuclear lamin, the major component of nuclear lamina, during neurogenesis in two germinal regions of adult rat brain. Eur. J. Neurosci., 25, 1653-1662.
11. Lin, S.T. and Fu, Y.H. (2009) miR-23 regulation of lamin B1 is crucial for oligodendrocyte development and myelination. Dis. Model. Mech., 2, 178-188.
12. Heng, M.Y., Lin, S.T., Verret, L., Huang, Y., Kamiya, S., Padiath, Q.S., Tong, Y., Palop, J.J., Huang, E.J., Ptáček, L.J. and Fu, Y.H. (2013) Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model. J. Clin. Invest., 123, 2719-2729.
13. Dechat, T., Pfleghaar, K., Sengupta, K., Shimi, T., Shumaker, D. K., Solimando, L. and Goldman, R.D. (2008) Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin. Genes Dev., 22, 832-853.
14. Ferrera, D., Canale, C., Marotta, R., Mazzaro, N., Gritti, M., Mazzanti, M., Capellari, S., Cortelli, P. and Gasparini, L. (2014) Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts. FASEB J., 28, 3906-3918.
15. Guelen, L., Pagie, L., Brasset, E., Meuleman, W., Faza, M.B., Talhout, W., Eussen, B.H., de Klein, A., Wessels, L., de Laat, W. and van Steensel, B. (2008) Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions. Nature, 453, 948-951.
16. Malhas, A., Lee, C.F., Sanders, R., Saunders, N.J. and Vaux, D.J. (2007) Defects in lamin B1 expression or processing affect interphase chromosome position and gene expression. J. Cell Biol., 176, 593-603.
17. Castello, A., Fischer, B., Eichelbaum, K., Horos, R., Beckmann, B.M., Strein, C., Davey, N.E., Humphreys, D.T., Preiss, T., Steinmetz, L.M., Krijgsveld, J. and Hentze, M.W. (2012) Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell, 149, 1393-1406.
18. Kleinhenz, B., Fabienke, M., Swiniarski, S., Wittenmayer, N., Kirsch, J., Jockusch, B.M., Arnold, H.H. and Illenberger, S. (2005) Raver2, a new member of the hnRNP family. FEBS Lett., 579, 4254-4258.
19. Henneberg, B., Swiniarski, S., Becke, S. and Illenberger, S. (2010) A conserved peptide motif in Raver2 mediates its interaction with the polypyrimidine tract-binding protein. Exp. Cell Res., 316, 966-979.
20. Das, S.K., Holt, D.G., Uehara, H., Zhang, X., Archer, B. and Ambati, B.K. (2014) Raver2 preserves corneal avascularity by increasing sFlt1 production [ARVO E-abstract]. Invest. Ophthalmol. Vis. Sci., 55, 3249.
21. Subramanian, A., Tamayo, P., Mootha, V.K., Mukherjee, S., Ebert, B.L., Gillette, M.A., Paulovich, A., Pomeroy, S.L., Golub, T.R., Lander, E.S. and Mesirov, J.P. (2005) Gene Set Enrichment Analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl. Acad. Sci. USA, 102, 15545-15550.
22. Hutchison, C.J. (2014) B-type lamins in health and disease. Semin. Cell Dev. Biol., 29, 158-163.
23. Malhas, A.N., Lee, C.F. and Vaux, D.J. (2009) Lamin B1 controls oxidative stress responses via Oct-1. J. Cell Biol., 184, 45-55.
24. Melko, M., Douguet, D., Bensaid, M., Zongaro, S., Verheggen, C., Gecz, J. and Bardoni, B. (2011) Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability. Hum. Mol. Genet., 20, 1873-1885.
25. FANTOM Consortium and the RIKEN PMI and CLST (DGT) Forrest, A.R., Kawaji, H., Rehli, M., Baillie, J.K., de Hoon, M.J., Lassmann, T., Itoh, M., Summers, K.M., Suzuki, H., Daub, C.O. et al. (2014) A promoter-level mammalian expression atlas. Nature, 507, 462-470.
26. Romanelli, M.G., Lorenzi, P., Diani, E., Filippello, A., Avesani, F. and Morandi, C. (2012) Transcriptional regulation of the human Raver2 ribonucleoprotein gene. Gene, 493, 243-252.
27. Spellman, R., Rideau, A., Matlin, A., Gooding, C., Robinson, F., McGlincy, N., Grellscheid, S.N., Southby, J., Wollerton, M. and Smith, C.W. (2005) Regulation of alternative splicing by PTB and associated factors. Biochem. Soc. Trans., 33, 457-460.
28. Gromak, N., Rideau, A., Southby, J., Scadden, A.D., Gooding, C., Hüttelmaier, S., Singer, R.H. and Smith, C.W. (2003) The PTB interacting protein raver1 regulates alpha-tropomyosin alternative splicing. EMBO J., 22, 6356-6364.
29. Xue, Y., Zhou, Y., Wu, T., Zhu, T., Ji, X., Kwon, Y.S., Zhang, C., Yeo, G., Black, D.L., Sun, H. et al. (2009) Genome-wide analysis of PTB-RNA interactions reveals a strategy used by the general splicing repressor to modulate exon inclusion or skipping. Mol. Cell, 36, 996-1006.
30. Matlin, A.J., Southby, J., Gooding, C. and Smith, C.W. (2007) Repression of alpha-actinin SM exon splicing by assisted binding of PTB to the polypyrimidine tract. RNA, 13, 1214-1223.
31. Spellman, R., Llorian, M. and Smith, C.W. (2007) Crossregulation and functional redundancy between the splicing regulator PTB and its paralogs nPTB and ROD1. Mol. Cell, 27, 420-434.
32. Xue, Y., Ouyang, K., Huang, J., Zhou, Y., Ouyang, H., Li, H., Wang, G., Wu, Q., Wei, C., Bi, Y. et al. (2013) Direct conversion of fibroblasts to neurons by reprogramming PTB-regulated microRNA circuits. Cell, 152, 82-96.
33. Regis, S., Grossi, S., Corsolini, F., Biancheri, R. and Filocamo, M. (2009) PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients. Biochim. Biophys. Acta, 1792, 548-554.
34. Cooper-Knock, J., Kirby, J., Ferraiuolo, L., Heath, P.R., Rattray, M. and Shaw, P.J. (2012) Gene expression profiling in human neurodegenerative disease. Nat. Rev. Neurol., 8, 518-530.
35. Fogel, B.L., Cho, E., Wahnich, A., Gao, F., Becherel, O.J., Wang, X., Fike, F., Chen, L., Criscuolo, C., De Michele, G. et al. (2014) Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2. Hum. Mol. Genet., 23, 4758-4769.
36. Bernardini, C., Lattanzi, W., Bosco, P., Franceschini, C., Plazzi, G., Michetti, F. and Ferri, R. (2012) Genome-wide gene expression profiling of human narcolepsy. Gene Expr., 15, 171-181.
37. Sullivan, P.F., Fan, C. and Perou, C.M. (2006) Evaluating the comparability of gene expression in blood and brain. Am. J. Med. Genet. B. Neuropsychiatr. Genet., 141B, 261-268.
38. Auburger, G., Klinkenberg, M., Drost, J., Marcus, K., Morales-Gordo, B., Kunz, W.S., Brandt, U., Broccoli, V., Reichmann, H., Gispert, S. and Jendrach, M. (2012) Primary skin fibroblasts as a model of Parkinson's disease. Mol. Neurobiol., 46, 20-27.
39. Schreiber, K.H. and Kennedy, B.K. (2013) When lamins go bad: nuclear structure and disease. Cell, 152, 1365-1375.
40. Björkqvist, M., Wild, E.J. and Tabrizi, S.J. (2009) Harnessing immune alterations in neurodegenerative diseases. Neuron, 64, 21-24.
41. Rodrigues, M.C., Sanberg, P.R., Cruz, L.E. and Garbuzova-Davis, S. (2014) The innate and adaptive immunological aspects in neurodegenerative diseases. J. Neuroimmunol., 269, 1-8.
42. Columbaro, M., Mattioli, E., Maraldi, N.M., Ortolani, M., Gasparini, L., D'Apice, M.R., Postorivo, D., Nardone, A.M., Avnet, S., Cortelli, P. et al. (2013) Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy. Biochim. Biophys. Acta, 1832, 411-420.
43. Mewborn, S.K., Puckelwartz, M.J., Abuisneineh, F., Fahrenbach, J.P., Zhang, Y., MacLeod, H., Dellefave, L., Pytel, P., Selig, S., Labno, C.M. et al. (2010) Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation. PLoS ONE, 5, e14342.
44. McCord, R.P., Nazario-Toole, A., Zhang, H., Chines, P.S., Zhan, Y., Erdos, M.R., Collins, F.S., Dekker, J. and Cao, K. (2013) Correlated alterations in genome organization, histone methylation, and DNA-lamin A/C interactions in Hutchinson-Gilford progeria syndrome. Genome Res., 23, 260-269.
45. Peric-Hupkes, D., Meuleman, W., Pagie, L., Bruggeman, S.W., Solovei, I., Brugman, W., Gräf, S., Flicek, P., Kerkhoven, R.M., van Lohuizen, M. et al. (2010) Molecular maps of the reorganization of genome-nuclear lamina interactions during differentiation. Mol. Cell, 38, 603-613.
46. Sadaie, M., Salama, R., Carroll, T., Tomimatsu, K., Chandra, T., Young, A.R., Narita, M., Pérez-Mancera, P.A., Bennett, D.C., Chong, H. et al. (2013) Redistribution of the Lamin B1 genomic binding profile affects rearrangement of heterochromatic domains and SAHF formation during senescence. Genes Dev., 27, 1800-1808.
47. Romanelli, M.G., Diani, E. and Lievens, P.M. (2013) New insights into functional roles of the polypyrimidine tract-binding protein. Int. J. Mol. Sci., 14, 22906-22932.
48. Camps, J., Wangsa, D., Falke, M., Brown, M., Case, C.M., Erdos, M.R. and Ried, T. (2014) Loss of lamin B1 results in prolongation of S phase and decondensation of chromosome territories. FASEB J., 28, 3423-3434.
49. Revil, T., Gaffney, D., Dias, C., Majewski, J. and Jerome-Majewska, L.A. (2010) Alternative splicing is frequent during early embryonic development in mouse. BMC Genomics, 11, 399.
50. Chen, M. and Manley, J.L. (2009) Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches. Nat. Rev. Mol. Cell Biol., 10, 741-754.
51. Mourelatos, Z., Abel, L., Yong, J., Kataoka, N. and Dreyfuss, G. (2001) SMN interacts with a novel family of hnRNP and spliceosomal proteins. EMBO J., 20, 5443-5452.
52. Singh, R.K. and Cooper, T.A. (2012) Pre-mRNA splicing in disease and therapeutics. Trends Mol. Med., 18, 472-482.
53. Osborne, R.J. and Thornton, C.A. (2006) RNA-dominant diseases. Hum. Mol. Genet., 15, R162-R169.
54. Caillet-Boudin, M.L., Fernandez-Gomez, F.J., Tran, H., Dhaenens, C.M., Buee, L. and Sergeant, N. (2014) Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy. Front. Mol. Neurosci., 6, 57.
55. Guaraldi, P., Donadio, V., Capellari, S., Contin, M., Casadio, M. C., Montagna, P., Liguori, R. and Cortelli, P. (2010) Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy. Auton. Neurosci., 159, 123-126.
56. Gentleman, R.C., Carey, V.J., Bates, D.M., Bolstad, B., Dettling, M., Dudoit, S., Ellis, B., Gautier, L., Ge, Y., Gentry, J. et al. (2004) Bioconductor: open software development for computational biology and bioinformatics. Genome Biol., 5, R80.
57. Du, P., Kibbe, W.A. and Lin, S.M. (2008) lumi: a pipeline for processing Illumina microarray. Bioinformatics, 24, 1547-1548.
58. Wettenhall, J.M. and Smyth, G.K. (2004) Limma GUI: a graphical user interface for linear modeling of microarray data. Bioinformatics, 20, 3705-3706.
59. Edgar, R., Domrachev, M. and Lash, A.E. (2002) Gene Expression Omnibus: NCBI gene expression and hybridization array data repository. Nucleic Acids Res., 30, 207-210.
60. Shi, L., Jones, W.D., Jensen, R.V., Harris, S.C., Perkins, R.G., Goodsaid, F.M., Guo, L., Croner, L.J., Boysen, C., Fang, H. et al. (2008) The balance of reproducibility, sensitivity, and specificity of lists of differentially expressed genes in microarray studies. BMC Bioinformatics, 9, S10.
61. Benjamini, Y., Drai, D., Elmer, G., Kafkafi, N. and Golani, I. (2001) Controlling the false discovery rate in behavior genetics research. Behav. Brain Res., 125, 279-284.
62. Supek, F., Bošnjak, M., Škunca, N. and Šmuc, T. (2011) REVIGO summarizes and visualizes long lists of gene ontology terms. PLoS ONE, 6, e21800.
63. Durrenberger, P.F., Fernando, F.S., Magliozzi, R., Kashefi, S.N., Bonnert, T.P., Ferrer, I., Seilhean, D., Nait-Oumesmar, B., Schmitt, A., Gebicke-Haerter, P.J. et al. (2012) Selection of novel reference genes for use in the human central nervous system: a Brain Net Europe Study. Acta Neuropathol., 124, 893-903.
64. Livak, K.J. and Schmittgen, T.D. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods, 25, 402-408.
65. Schneider, C.A., Rasband, W.S. and Eliceiri, K.W. (2012) NIH Image to Image J:25 years of image analysis. Nat. Methods, 9, 671-675.