FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

Cell Reports

Volumn 2, Issue 4, 2012, Pages 799-806

  Yamazaki, Tomohiro ^a   Chen, Shi ^a,e   Yu, Yong ^a   Yan, Biao ^a   Haertlein, Tyler C ^a   Carrasco, Monica A ^b   Tapia, Juan C ^b   Zhai, Bo ^a   Das, Rita ^a,f   Lalancette Hebert, Melanie ^b   Sharma, Aarti ^b   Chandran, Siddharthan ^c   Sullivan, Gareth ^c,g   Nishimura, Agnes Lumi ^d   Shaw, Christopher E ^d   Gygi, Steve P ^a   Shneider, Neil A ^b   Maniatis, Tom ^b   Reed, Robin ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b NewYork Presbyterian Hospital   (United States)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e WUHAN UNIVERSITY   (China)

^f NOVARTIS INSTITUTES FOR BIOMEDICAL RESEARCH   (United States)

^g UNIVERSITY OF OSLO   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

FUSED IN SARCOMA PROTEIN; SURVIVAL MOTOR NEURON PROTEIN; TAR DNA BINDING PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; FIBROBLAST; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; IMMUNOPRECIPITATION; MASS SPECTROMETRY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION; SPINAL MUSCULAR ATROPHY;

AMYOTROPHIC LATERAL SCLEROSIS; DEAD BOX PROTEIN 20; DNA-BINDING PROTEINS; HELA CELLS; HUMANS; MUSCULAR ATROPHY, SPINAL; MUTATION; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA INTERFERENCE; RNA, SMALL INTERFERING; RNA-BINDING PROTEIN FUS; SMN COMPLEX PROTEINS;

EID: 84868153116     PISSN: None     EISSN: 22111247     Source Type: Journal    
DOI: 10.1016/j.celrep.2012.08.025     Document Type: Article

References (31)

1. Battle D.J., Kasim M., Yong J., Lotti F., Lau C.K., Mouaikel J., Zhang Z., Han K., Wan L., Dreyfuss G. The SMN complex: an assembly machine for RNPs. Cold Spring Harb. Symp. Quant. Biol. 2006, 71:313-320.
2. Boillée S., Vande Velde C., Cleveland D.W. ALS: a disease of motor neurons and their nonneuronal neighbors. Neuron 2006, 52:39-59.
3. Bosco D.A., Lemay N., Ko H.K., Zhou H., Burke C., Kwiatkowski T.J., Sapp P., McKenna-Yasek D., Brown R.H., Hayward L.J. Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules. Hum. Mol. Genet. 2010, 19:4160-4175.
4. Coovert D.D., Le T.T., McAndrew P.E., Strasswimmer J., Crawford T.O., Mendell J.R., Coulson S.E., Androphy E.J., Prior T.W., Burghes A.H. The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 1997, 6:1205-1214.
5. Da Cruz S., Cleveland D.W. Understanding the role of TDP-43 and FUS/TLS in ALS and beyond. Curr. Opin. Neurobiol. 2011, 21:904-919.
6. Das R., Yu J., Zhang Z., Gygi M.P., Krainer A.R., Gygi S.P., Reed R. SR proteins function in coupling RNAP II transcription to pre-mRNA splicing. Mol. Cell 2007, 26:867-881.
7. DeJesus-Hernandez M., Mackenzie I.R., Boeve B.F., Boxer A.L., Baker M., Rutherford N.J., Nicholson A.M., Finch N.A., Flynn H., Adamson J., et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72:245-256.
8. Dormann D., Rodde R., Edbauer D., Bentmann E., Fischer I., Hruscha A., Than M.E., Mackenzie I.R., Capell A., Schmid B., et al. ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J. 2010, 29:2841-2857.
9. Fallini C., Bassell G.J., Rossoll W. The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth. Hum. Mol. Genet. 2012, 21:3703-3718.
10. Fallini C., Bassell G.J., Rossoll W. Spinal muscular atrophy: the role of SMN in axonal mRNA regulation. Brain Res. 2012, 1462:81-92.
11. Gertz B., Wong M., Martin L.J. Nuclear localization of human SOD1 and mutant SOD1-specific disruption of survival motor neuron protein complex in transgenic amyotrophic lateral sclerosis mice. J. Neuropathol. Exp. Neurol. 2012, 71:162-177.
12. Gitcho M.A., Baloh R.H., Chakraverty S., Mayo K., Norton J.B., Levitch D., Hatanpaa K.J., White C.L., Bigio E.H., Caselli R., et al. TDP-43 A315T mutation in familial motor neuron disease. Ann. Neurol. 2008, 63:535-538.
13. Gubitz A.K., Feng W., Dreyfuss G. The SMN complex. Exp. Cell Res. 2004, 296:51-56.
14. Kabashi E., Valdmanis P.N., Dion P., Spiegelman D., McConkey B.J., Vande Velde C., Bouchard J.P., Lacomblez L., Pochigaeva K., Salachas F., et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat. Genet. 2008, 40:572-574.
15. Kabashi E., Bercier V., Lissouba A., Liao M., Brustein E., Rouleau G.A., Drapeau P. FUS and TARDBP but not SOD1 interact in genetic models of amyotrophic lateral sclerosis. PLoS Genet. 2011, 7:e1002214.
16. Kariya S., Re D.B., Jacquier A., Nelson K., Przedborski S., Monani U.R. Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies. Hum. Mol. Genet. 2012, 21:3421-3434.
17. Kim S.H., Shanware N.P., Bowler M.J., Tibbetts R.S. Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA. J. Biol. Chem. 2010, 285:34097-34105.
18. Kwiatkowski T.J., Bosco D.A., Leclerc A.L., Tamrazian E., Vanderburg C.R., Russ C., Davis A., Gilchrist J., Kasarskis E.J., Munsat T., et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009, 323:1205-1208.
19. Lefebvre S., Bürglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Benichou B., Cruaud C., Millasseau P., Zeviani M., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155-165.
20. Ling S.C., Albuquerque C.P., Han J.S., Lagier-Tourenne C., Tokunaga S., Zhou H., Cleveland D.W. ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS. Proc. Natl. Acad. Sci. USA 2010, 107:13318-13323.
21. Liu Q., Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J. 1996, 15:3555-3565.
22. Liu-Yesucevitz L., Bassell G.J., Gitler A.D., Hart A.C., Klann E., Richter J.D., Warren S.T., Wolozin B. Local RNA translation at the synapse and in disease. J. Neurosci. 2011, 31:16086-16093.
23. Renton A.E., Majounie E., Waite A., Simón-Sánchez J., Rollinson S., Gibbs J.R., Schymick J.C., Laaksovirta H., van Swieten J.C., Myllykangas L., et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72:257-268. ITALSGEN Consortium.
24. Sephton C.F., Cenik C., Kucukural A., Dammer E.B., Cenik B., Han Y., Dewey C.M., Roth F.P., Herz J., Peng J., et al. Identification of neuronal RNA targets of TDP-43-containing ribonucleoprotein complexes. J. Biol. Chem. 2011, 286:1204-1215.
25. Shan X., Chiang P.M., Price D.L., Wong P.C. Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice. Proc. Natl. Acad. Sci. USA 2010, 107:16325-16330.
26. Sreedharan J., Blair I.P., Tripathi V.B., Hu X., Vance C., Rogelj B., Ackerley S., Durnall J.C., Williams K.L., Buratti E., et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008, 319:1668-1672.
27. Valdmanis P.N., Rouleau G.A. Genetics of familial amyotrophic lateral sclerosis. Neurology 2008, 70:144-152.
28. Vance C., Rogelj B., Hortobágyi T., De Vos K.J., Nishimura A.L., Sreedharan J., Hu X., Smith B., Ruddy D., Wright P., et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009, 323:1208-1211.
29. Waibel S., Neumann M., Rabe M., Meyer T., Ludolph A.C. Novel missense and truncating mutations in FUS/TLS in familial ALS. Neurology 2010, 75:815-817.
30. Wang J.W., Brent J.R., Tomlinson A., Shneider N.A., McCabe B.D. The ALS-associated proteins FUS and TDP-43 function together to affect Drosophila locomotion and life span. J. Clin. Invest. 2011, 121:4118-4126.
31. Yong J., Pellizzoni L., Dreyfuss G. Sequence-specific interaction of U1 snRNA with the SMN complex. EMBO J. 2002, 21:1188-1196.