Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Human Molecular Genetics

Volumn 22, Issue 15, 2013, Pages 2975-2983

  Ylikallio, Emil ^a   Pöyhönen, Rosanna ^a   Zimon, Magdalena ^c,d   De Vriendt, Els ^c,d   Hilander, Taru ^a   Paetau, Anders ^b   Jordanova, Albena ^c,d   Lönnqvist, Tuula ^e   Tyynismaa, Henna ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; UBIQUITIN PROTEIN LIGASE E3;

ADULT; ARTICLE; AXONAL NEUROPATHY; CASE REPORT; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; MUSCLE MASS; NERVE BIOPSY; NERVE FIBER; NEUROFILAMENT; NEUROPATHY; ONSET AGE; PRIORITY JOURNAL; PROTEIN STABILITY; SURAL NERVE; TRIPARTITE MOTIF CONTAINING 2 GENE;

ADOLESCENT; AXONS; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; EXOME; FEMALE; FIBROBLASTS; HUMANS; MUTATION; NEUROFILAMENT PROTEINS; NUCLEAR PROTEINS; RNA STABILITY; SEQUENCE ANALYSIS, DNA; SURAL NERVE;

EID: 84880315534     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt149     Document Type: Article

References (29)

1. Szigeti, K. and Lupski, J.R. (2009) Charcot-Marie-Tooth disease. Eur. J. Hum. Genet., 17, 703-710.
2. Nicholson, G. and Myers, S. (2006) Intermediate forms of Charcot-Marie-Tooth neuropathy: a review. Neuromolecular Med., 8, 123-130.
3. Patzko, A. and Shy, M.E. (2011) Update on Charcot-Marie-Tooth disease. Curr. Neurol. Neurosci. Rep., 11, 78-88.
4. Wilmshurst, J.M. and Ouvrier, R. (2011) Hereditary peripheral neuropathies of childhood: an overview for clinicians. Neuromuscul. Disord., 21, 763-775.
5. Niemann, A., Berger, P. and Suter, U. (2006) Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med., 8, 217-242.
6. Baets, J., Deconinck, T., De Vriendt, E., Zimon, M., Yperzeele, L., Van Hoorenbeeck, K., Peeters, K., Spiegel, R., Parman, Y., Ceulemans, B. et al. (2011) Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain, 134, 2664-2676.
7. Gentil, B.J. and Cooper, L. (2012) Molecular basis of axonal dysfunction and traffic impairments in CMT. Brain Res. Bull., 88, 444-453.
8. Braathen, G.J., Sand, J.C., Lobato, A., Hoyer, H. and Russell, M.B. (2011) Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur. J. Neurol., 18, 39-48.
9. Yiu, E.M. and Ryan, M.M. (2012) Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset. J. Peripher. Nerv. Syst., 17, 285-300.
10. Koskinen, T., Sainio, K., Rapola, J., Pihko, H. and Paetau, A. (1994) Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle Nerve, 17, 509-515.
11. Balastik, M., Ferraguti, F., Pires-da Silva, A., Lee, T.H., Alvarez-Bolado, G., Lu, K.P. and Gruss, P. (2008) Deficiency in ubiquitin ligase TRIM2 causes accumulation of neurofilament light chain and neurodegeneration. Proc. Natl Acad. Sci. USA, 105, 12016-12021.
12. Khazaei, M.R., Bunk, E.C., Hillje, A.L., Jahn, H.M., Riegler, E.M., Knoblich, J.A., Young, P. and Schwamborn, J.C. (2011) The E3-ubiquitin ligase TRIM2 regulates neuronal polarization. J. Neurochem., 117, 29-37.
13. Suomalainen, A. and Syvanen, A.C. (2003) Analysis of nucleotide sequence variations by solid-phase minisequencing. Methods Mol. Biol., 226, 361-366.
14. Ohkawa, N., Kokura, K., Matsu-Ura, T., Obinata, T., Konishi, Y. and Tamura, T.A. (2001) Molecular cloning and characterization of neural activity-related RING finger protein (NARF): a new member of the RBCC family is a candidate for the partner of myosin V. J. Neurochem., 78, 75-87.
15. Meroni, G. and Diez-Roux, G. (2005) TRIM/RBCC, a novel class of 'single protein RING finger' E3 ubiquitin ligases. Bioessays, 27, 1147-1157.
16. Reymond, A., Meroni, G., Fantozzi, A., Merla, G., Cairo, S., Luzi, L., Riganelli, D., Zanaria, E., Messali, S., Cainarca, S. et al. (2001) The tripartite motif family identifies cell compartments. EMBO J., 20, 2140-2151.
17. McDonnell, A.V., Jiang, T., Keating, A.E. and Berger, B. (2006) Paircoil2: improved prediction of coiled coils from sequence. Bioinformatics, 22, 356-358.
18. Bomont, P., Cavalier, L., Blondeau, F., Ben Hamida, C., Belal, S., Tazir, M., Demir, E., Topaloglu, H., Korinthenberg, R., Tuysuz, B. et al. (2000) The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat. Genet., 26, 370-374.
19. Kuhlenbaumer, G., Timmerman, V. and Bomont, P. (1993) Giant axonal neuropathy. In Pagon, R.A., Bird, T.D., Dolan, C.R., Stephens, K. and Adam, M.P (eds), GeneReviews. University of Washington, Seattle, WA.
20. Pena, S.D., Opas, M., Turksen, K., Kalnins, V.I. and Carpenter, S. (1983) Immunocytochemical studies of intermediate filament aggregates and their relationship to microtubules in cultured skin fibroblasts from patients with giant axonal neuropathy. Eur. J. Cell Biol., 31, 227-234.
21. Clague, M.J. and Urbe, S. (2010) Ubiquitin: same molecule, different degradation pathways. Cell, 143, 682-685.
22. Dennissen, F.J., Kholod, N. and van Leeuwen, F.W. (2012) The ubiquitin proteasome system in neurodegenerative diseases: culprit, accomplice or victim? Prog. Neurobiol., 96, 190-207.
23. Avela, K., Lipsanen-Nyman, M., Idanheimo, N., Seemanova, E., Rosengren, S., Makela, T.P., Perheentupa, J., Chapelle, A.D. and Lehesjoki, A.E. (2000) Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism. Nat. Genet., 25, 298-301.
24. de The, H., Lavau, C., Marchio, A., Chomienne, C., Degos, L. and Dejean, A. (1991) The PML-RAR alpha fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR. Cell, 66, 675-684.
25. Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y. and Shimizu, N. (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature, 392, 605-608.
26. Perrot, R., Berges, R., Bocquet, A. and Eyer, J. (2008) Review of the multiple aspects of neurofilament functions, and their possible contribution to neurodegeneration. Mol. Neurobiol., 38, 27-65.
27. Figlewicz, D.A., Krizus, A., Martinoli, M.G., Meininger, V., Dib, M., Rouleau, G.A. and Julien, J.P. (1994) Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum. Mol. Genet., 3, 1757-1761.
28. Thompson, S., Pearson, A.N., Ashley, M.D., Jessick, V., Murphy, B.M., Gafken, P., Henshall, D.C., Morris, K.T., Simon, R.P. and Meller, R. (2011) Identification of a novel bcl-2-interacting mediator of cell death (bim) E3 ligase, tripartite motif-containing protein 2 (TRIM2), and its role in rapid ischemic tolerance-induced neuroprotection. J. Biol. Chem., 286, 19331-19339.
29. Sulonen, A.M., Ellonen, P., Almusa, H., Lepisto, M., Eldfors, S., Hannula, S., Miettinen, T., Tyynismaa, H., Salo, P., Heckman, C. et al.. (2011) Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol., 12, R94.