The role of RNA and RNA processing in neurodegeneration

Journal of Neuroscience

Volumn 25, Issue 45, 2005, Pages 10372-10375

  Gallo, Jean Marc ^a   Jin, Peng ^b   Thornton, Charles A ^c   Lin, Hong ^d   Robertson, Janice ^e   D'Souza, Ian ^f   Schlaepfer, William W ^d  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e UNIVERSITY OF TORONTO   (Canada)

^f UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Alternative splicing; Amyotrophic lateral sclerosis; Neurofilaments; RNA; Tau; Triplet repeat expansions

Indexed keywords

BINDING PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; GENE PRODUCT; RNA; TAU PROTEIN;

ALTERNATIVE RNA SPLICING; AMYOTROPHIC LATERAL SCLEROSIS; CONFERENCE PAPER; DNA TRANSCRIPTION; GENE DISRUPTION; HUMAN; NERVE DEGENERATION; NEUROFILAMENT; NONHUMAN; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN TARGETING; RNA PROCESSING; RNA TRANSCRIPTION; UNTRANSLATED REGION;

ALTERNATIVE SPLICING; ANIMALS; HUMANS; MODELS, BIOLOGICAL; NEURODEGENERATIVE DISEASES; RNA; RNA PROCESSING, POST-TRANSCRIPTIONAL; URIDINE TRIPHOSPHATE;

EID: 27744573471     PISSN: 02706474     EISSN: 02706474     Source Type: Journal    
DOI: 10.1523/JNEUROSCI.3453-05.2005     Document Type: Conference Paper

References (30)

1. Avila J, Lucas JJ, Perez M, Hernandez F (2004) Role of tau protein in both physiological and pathological conditions. Physiol Rev 84:361-384.
2. Bruijn LI, Miller TM, Cleveland DW (2004) Unraveling the mechanisms involved in motor neuron degeneration in ALS. Annu Rev Neurosci 27:723-749.
3. Canete-Soler R, Wu J, Zhai J, Shamim M, Schlaepfer WW (2001) p190RhoGEF binds to a destabilizing element in the 3′ untranslated region of light neurofilament subunit mRNA and alters the stability of the transcript. J Biol Chem 276:32046-32050.
4. Connell JW, Rodriguez-Martin T, Gibb GM, Khan NM, Grierson AJ, Hanger DP, Revesz T, Anderton BH, Gallo J-M (2005) Quantitative analysis of tau isoform transcripts in sporadic tauopathies. Brain Res Mol Brain Res 137:104-109.
5. D'Souza I, Schellenberg GD (2002) Tau exon 10 expression involves a bipartite intron 10 regulatory sequence and weak 5′ and 3′ splice sites. J Biol Chem 277:26587-26599.
6. Frugier T, Nicole S, Cifuentes-Diaz C, Melki J (2002) The molecular bases of spinal muscular atrophy. Curr Opin Genet Dev 12:294-298.
7. Gubitz AK, Feng W, Dreyfuss G (2004) The SMN complex. Exp Cell Res 296:51-56.
8. Hagerman PJ, Hagerman RJ (2004) The fragile-X premutation: a maturing perspective. Am J Hum Genet 74:805-816.
9. Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL (1999) Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12. Nat Genet 23:391-392.
10. Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden HH, Pickering Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevena M, De Graaff E, Wauters E, et al. (1998) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702-704.
11. Jiang H, Mankodi A, Swanson MS, Moxley RT, Thornton CA (2004) Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13:3079-3088.
12. Jiang Z, Tang H, Havlioglu N, Zhang X, Stamm S, Yan R, Wu JY (2003) Mutations in tau gene exon10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2β. J Biol Chem 278:18997-19007.
13. Jin P, Zarnescu DC, Zhang F, Pearson CE, Lucchesi JC, Moses K, Warren ST (2003) RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39:739-747.
14. Kalbfuss B, Mabon SA, Misteli T (2001) Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17. J Biol Chem 276:42986-42993.
15. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS (2003) A muscleblind knockout model for myotonic dystrophy. Science 302:1978-1980.
16. Kosik KS, Krichevsky AM (2005) The elegance of the microRNAs: a neuronal perspective. Neuron 47:779-782.
17. Lin H, Zhai J, Nie Z, Wu J, Meinkoth JL, Schlaepfer WW, Canete-Soler R (2003) Neurofilament RNA causes neurodegeneration with accumulation of ubiquitinated aggregates in cultured motor neurons. J Neuropathol Exp Neurol 62:936-950.
18. Lin H, Zhai J, Canete-Soler R, Schlaepfer WW (2004) 3′ untranslated region in a light neurofilament (NF-L) mRNA triggers aggregation of NF-L and mutant superoxide dismutase 1 proteins in neuronal cells. J Neurosci 24:2716-2726.
19. Lin H, Zhai J, Schlaepfer WW (2005) RNA-binding protein is involved in aggregation of light neurofilament (NF-L) protein and is implicated in the pathogenesis of motor neuron degeneration. Hum Mol Genet, in press.
20. McLeod CJ, O'Keefe LV, Richards RI (2005) The pathogenic agent in Drosophila models of "polyglutamine" diseases. Hum Mol Genet 14:1041-1048.
21. Mutsuddi M, Marshall CM, Benzow KA, Koob MD, Rebay I (2004) The spinocerebellar ataxia 8 noncoding RNA causes neurodegeneration and associates with staufen in Drosophila. Curr Biol 14:302-308.
22. Nie Z, Wu J, Zhai J, Lin H, Ge W, Schlaepfer WW, Canete-Soler R (2002) Untranslated element in neurofilament mRNA has neuropathic effect on motor neurons of transgenic mice. J Neurosci 22:7662-7670.
23. Puttaraju M, Jamison SF, Mansfield SG, Garcia-Blanco MA, Mitchell LG (1999) Spliceosome-mediated RNA trans-splicing as a tool for gene therapy. Nat Biotechnol 17:246-252.
24. Ranum LP, Day JW (2004) Pathogenic RNA repeats: an expanding role in genetic disease. Trends Genet 20:506-512.
25. Robertson J, Doroudchi MM, Nguyen MD, Durham HD, Strong MJ, Shaw G, Julien JP, Mushynski WE (2003) A neurotoxic peripherin splice variant in a mouse model of ALS. J Cell Biol 160:939-949.
26. Rodriguez-Martin T, Garcia-Blanco MA, Mansfield SG, Grover A, Hutton M, Yu Q, Zhou J, Anderton BH, Gallo J-M (2005) Reprogramming of tau alternative splicing by spliceosome-mediated RNA trans-splicing: implications for tauopathies. Proc Natl Acad Sci USA 102:15659-15664.
27. Rossoll W, Jablonka S, Andreassi C, Kroning AK, Karle K, Monani UR, Sendtner M (2003) Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons. J Cell Biol 163:801-812.
28. Tassone F, Hagerman RJ, Taylor AK, Gane LW, Godfrey TE, Hagerman PJ (2000) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 66:6-15.
29. Ule J, Ule A, Spencer J, Williams A, Hu JS, Cline M, Wang H, Clark T, Fraser C, Ruggiu M, Zeeberg BR, Kane D, Weinstein JN, Blume J, Darnell RB (2005) Nova regulates brain-specific splicing to shape the synapse. Nat Genet 37:844-852.
30. Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, Severijnen LA, Nieuwenhuizen IM, Schrier M, Van Unen L, Tassone F, Hoogeveen AT, Hagerman PJ, Mientjes EJ, Oostra BA (2003) The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum Mol Genet 12:949-959.