On the aggregation properties of FMRP - A link with the FXTAS syndrome?

FEBS Journal

Volumn 278, Issue 11, 2011, Pages 1912-1921

  Sjekloća, Ljiljana ^a   Pauwels, Kris ^a   Pastore, Annalisa ^a  

^a NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

Author keywords

aggregation; fragile X mental retardation syndrome; fragile X related tremor ataxia syndrome (FXTAS); protein misfolding; structure

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ARTICLE; BETA SHEET; CIRCULAR DICHROISM; CONFORMATIONAL TRANSITION; FRAGILE X RELATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; HUMAN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN SECONDARY STRUCTURE; PROTEIN STRUCTURE; TEMPERATURE; TRANSMISSION ELECTRON MICROSCOPY;

AMINO ACID SEQUENCE; CHROMATOGRAPHY, GEL; CIRCULAR DICHROISM; CLONING, MOLECULAR; FRAGILE X MENTAL RETARDATION PROTEIN; HUMANS; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; PROTEIN FOLDING; SEQUENCE HOMOLOGY, AMINO ACID; SPECTROPHOTOMETRY, ULTRAVIOLET; TEMPERATURE;

EID: 79956207698     PISSN: 1742464X     EISSN: 17424658     Source Type: Journal    
DOI: 10.1111/j.1742-4658.2011.08108.x     Document Type: Article

References (41)

1. Bakker CE, de Diego Otero Y, Bontekoe C, Raghoe P, Luteijn T, Hoogeveen AT, Oostra BA, &, Willemsen R, (2000) Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse. Exp Cell Res 258, 162-170. (Pubitemid 30461118)
2. Devys D, Lutz Y, Rouyer N, Bellocq JP, &, Mandel JL, (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X permutation. Nat Genet 4, 335-340. (Pubitemid 23231479)
3. Tamanini F, Willemsen R, van Unen L, Bontekoe C, Galjaard H, Oostra BA, &, Hoogeveen AT, (1997) Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum Mol Genet 6, 1315-1322. (Pubitemid 27351072)
4. Ramos A, Hollingworth D, Adinolfi S, Castets M, Kelly G, Frenkiel TA, Bardoni B, &, Pastore A, (2006) The structure of the N-terminal domain of the fragile X mental retardation protein: a platform for protein-protein interaction. Structure 14, 21-31. (Pubitemid 43350070)
5. Siomi H, Siomi MC, Nussbaum RL, &, Dreyfuss G, (1993) The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell 74, 291-298. (Pubitemid 23221705)
6. Ashley CT Jr, Wilkinson KD, Reines D, &, Warren ST, (1993) FMR1 protein: conserved RNP family domains and selective RNA binding. Science 262, 563-566. (Pubitemid 23350668)
7. Brown V, Small K, Lakkis L, Feng Y, Gunter C, Wilkinson KD, &, Warren ST, (1998) Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein. J Biol Chem 273, 15521-15527. (Pubitemid 28298162)
8. Kim M, Bellini M, &, Ceman S, (2009) Fragile X mental retardation protein FMRP binds mRNAs in the nucleus. Mol Cell Biol 29, 214-228.
9. De Diego Otero Y, Severijnen LA, van Cappellen G, Schrier M, Oostra B, &, Willemsen R, (2002) Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. Mol Cell Biol 22, 8332-8341. (Pubitemid 35304064)
10. Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, et al. (2008) The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell 134, 1042-1054.
11. Bassell GJ, &, Warren ST, (2008) Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron 60, 201-214.
12. Brouwer JR, Willemsen R, &, Oostra BA, (2009) The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet B Neuropsychiatr Genet 150B, 782-798.
13. Oostra BA, &, Willemsen R, (2009) FMR1: a gene with three faces. Biochim Biophys Acta 1790, 467-477.
14. Guduric-Fuchs J, Mohrlen F, Frohme M, &, Frank U, (2004) A fragile X mental retardation-like gene in a cnidarian. Gene 343, 231-238. (Pubitemid 39593433)
15. Anderson P, &, Kedersha N, (2006) RNA granules. J Cell Biol 172, 803-808.
16. Christie SB, Akins MR, Schwob JE, &, Fallon JR, (2009) The FXG: a presynaptic fragile X granule expressed in a subset of developing brain circuits. J Neurosci 29, 1514-1524.
17. Huot ME, Bisson N, Davidovic L, Mazroui R, Labelle Y, Moss T, &, Khandjian EW, (2005) The RNA-binding protein fragile X-related 1 regulates somite formation in Xenopus laevis. Mol Biol Cell 16, 4350-4361. (Pubitemid 41262902)
18. Moser JJ, &, Fritzler MJ, (2010) Cytoplasmic ribonucleoprotein (RNP) bodies and their relationship to GW/P bodies. Int J Biochem Cell Biol 42, 828-843.
19. Tassone F, Iwahashi C, &, Hagerman PJ, (2004) FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol 1, 103-105.
20. Ceman S, Brown V, &, Warren ST, (1999) Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex. Mol Cell Biol 19, 7925-7932. (Pubitemid 30413987)
21. Tamanini F, Van Unen L, Bakker C, Sacchi N, Galjaard H, Oostra BA, &, Hoogeveen AT, (1999) Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P. Biochem J 343, 517-523. (Pubitemid 29537361)
22. Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum RL, &, Dreyfuss G, (1995) The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. EMBO J 14, 5358-5366.
23. Estes PS, O'Shea M, Clasen S, &, Zarnescu DC, (2008) Fragile X protein controls the efficacy of mRNA transport in Drosophila neurons. Mol Cell Neurosci 39, 170-179.
24. Didiot MC, Subramanian M, Flatter E, Mandel JL, &, Moine H, (2009) Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly. Mol Biol Cell 20, 428-437.
25. Mazroui R, Huot ME, Tremblay S, Filion C, Labelle Y, &, Khandjian EW, (2002) Trapping of messenger RNA by fragile X mental retardation protein into cytoplasmic granules induces translation repression. Hum Mol Genet 11, 3007-3017. (Pubitemid 35414814)
26. Sjekloca L, Konarev PV, Eccleston J, Taylor IA, Svergun DI, &, Pastore A, (2009) A study of the ultrastructure of fragile-X-related proteins. Biochem J 419, 347-357.
27. Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, McWilliam H, Valentin F, Wallace IM, Wilm A, Lopez R, et al. (2007) Clustal W and Clustal X version 2.0. Bioinformatics 23, 2947-2948. (Pubitemid 350162903)
28. Musco G, Stier G, Joseph C, Castiglione Morelli MA, Nilges M, Gibson TJ, &, Pastore A, (1996) Three-dimensional structure and stability of the KH domain: molecular insights into the fragile X syndrome. Cell 85, 237-245. (Pubitemid 26119648)
29. LeVine H III, (1993) Thioflavine T interaction with synthetic Alzheimer's disease beta-amyloid peptides: detection of amyloid aggregation in solution. Protein Sci 2, 404-410.
30. Bardoni B, Davidovic L, Bensaid M, &, Khandjian EW, (2006) The fragile X syndrome: exploring its molecular basis and seeking a treatment. Expert Rev Mol Med 8, 1-16.
31. Masino L, Nicastro G, Calder L, Vendruscolo M, &, Pastore A, (2010) Functional interactions as a survival strategy against abnormal aggregation. FASEB J 25, 45-54.
32. Adrover M, Pauwels K, Prigent S, de Chiara C, Xu Z, Chapuis C, Pastore A, &, Rezaei H, (2010) Prion fibrillization is mediated by a native structural element that comprises helices H2 and H3. J Biol Chem 285, 21004-21012.
33. Castillo V, &, Ventura S, (2009) Amyloidogenic regions and interaction surfaces overlap in globular proteins related to conformational diseases. PLoS Comput Biol 5, e1000476.
34. Espargaro A, Castillo V, de Groot NS, &, Ventura S, (2008) The in vivo and in vitro aggregation properties of globular proteins correlate with their conformational stability: the SH3 case. J Mol Biol 378, 1116-1131.
35. Frousios KK, Iconomidou VA, Karletidi CM, &, Hamodrakas SJ, (2009) Amyloidogenic determinants are usually not buried. BMC Struct Biol 9, 44.
36. Sellier C, Rau F, Liu Y, Tassone F, Hukema RK, Gattoni R, Schneider A, Richard S, Willemsen R, Elliott DJ, et al. (2010) Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J 29, 1248-1261.
37. Garcia-Arocena D, &, Hagerman PJ, (2010) Advances in understanding the molecular basis of FXTAS. Hum Mol Genet 19, R83-R89.
38. Iwahashi CK, Yasui DH, An HJ, Greco CM, Tassone F, Nannen K, Babineau B, Lebrilla CB, Hagerman RJ, &, Hagerman PJ, (2006) Protein composition of the intranuclear inclusions of FXTAS. Brain 129, 256-271. (Pubitemid 43063776)
39. Ellis RJ, &, Minton AP, (2006) Protein aggregation in crowded environments. Biol Chem 387, 485-497. (Pubitemid 44071450)
40. Maurer-Stroh S, Debulpaep M, Kuemmerer N, de la Paz ML, Martins IC, Reumers J, Morris KL, Copland A, Serpell L, Serrano L, et al. (2010) Exploring the sequence determinants of amyloid structure using position-specific scoring matrices. Nat Methods 7, 237-242.
41. Letunic I, Doerks T, &, Bork P, (2009) SMART 6: recent updates and new developments. Nucleic Acids Res 37, D229-D232.