HMGA1a trapping of U1 snRNP at an authentic 5′ splice site induces aberrant exon skipping in sporadic alzheimer's disease

Molecular and Cellular Biology

Volumn 30, Issue 9, 2010, Pages 2220-2228

  Ohe, Kenji ^a   Mayeda, Akila ^a  

^a FUJITA HEALTH UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; HIGH MOBILITY GROUP A1A PROTEIN; PRESENILIN 2; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ALZHEIMER DISEASE; ARTICLE; BINDING SITE; CROSS LINKING; DISSOCIATION; ELECTROPHORETIC MOBILITY; EXON; GENETIC TRANSCRIPTION; HUMAN; IN VITRO STUDY; INTRON; NONHUMAN; PLASMID; PRIORITY JOURNAL; SPLICEOSOME;

ALZHEIMER DISEASE; BASE SEQUENCE; BINDING SITES; EXONS; HELA CELLS; HMGA1A PROTEIN; HUMANS; INTRONS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; PROTEIN BINDING; RIBONUCLEOPROTEIN, U1 SMALL NUCLEAR; RNA SPLICE SITES; SPLICEOSOMES;

EID: 77950658335     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.00114-10     Document Type: Article

References (42)

1. Black, D. L. 2003. Mechanisms of alternative pre-messenger RNA splicing. Annu. Rev. Biochem. 72:291-336.
2. Black, D. L., and A. L. Pinto. 1989. U5 small nuclear ribonucleoprotein: RNA structure analysis and ATP-dependent interaction with U4/U6. Mol. Cell. Biol. 9:3350-3359.
3. Buratti, E., A. Dhir, M. A. Lewandowska, and F. E. Baralle. 2007. RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events. Nucleic Acids Res. 35:4369-4383. (Pubitemid 47248459)
4. Cartegni, L., S. L. Chew, and A. R. Krainer. 2002. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 3:285-298.
5. Du, H., and M. Rosbash. 2002. The U1 snRNP protein U1C recognizes the 5' splice site in the absence of base pairing. Nature 419:86-90. (Pubitemid 34987875)
6. Fimia, G. M., D. De Cesare, and P. Sassone-Corsi. 1999. CBP-independent activation of CREM and CREB by the LIM-only protein ACT. Nature 398:165-169. (Pubitemid 29135456)
7. Guan, F., R. M. Caratozzolo, R. Goraczniak, E. S. Ho, and S. I. Gunderson. 2007. A bipartite U1 site represses U1A expression by synergizing with PIE to inhibit nuclear polyadenylation. RNA 13:2129-2140. (Pubitemid 350127555)
8. Gunderson, S. I., M. Polycarpou-Schwarz, and I. W. Mattaj. 1998. U1 snRNP inhibits pre-mRNA polyadenylation through a direct interaction between U1 70K and poly(A) polymerase. Mol. Cell 1:255-264.
9. Heinrichs, V., M. Bach, G. Winkelmann, and R. Lührmann. 1990. U1- specific protein C needed for efficient complex formation of U1 snRNP with a 5' splice site. Science 247:69-72. (Pubitemid 20059939)
10. Ignjatovic, T., J. C. Yang, J. Butler, D. Neuhaus, and K. Nagai. 2005. Structural basis of the interaction between P-element somatic inhibitor and U1-70k essential for the alternative splicing of P-element transposase. J. Mol. Biol. 351:52-65.
11. Katayama, T., K. Imaizumi, T. Manabe, J. Hitomi, T. Kudo, and M. Tohyama. 2004. Induction of neuronal death by ER stress in Alzheimer's disease. J. Chem. Neuroanat. 28:67-78.
12. Kent, O. A., D. B. Ritchie, and A. M. Macmillan. 2005. Characterization of a U2AF-independent commitment complex (E') in the mammalian spliceosome assembly pathway. Mol. Cell. Biol. 25:233-240.
13. Krainer, A. R., and T. Maniatis. 1985. Multiple factors including the small nuclear ribonucleoproteins U1 and U2 are necessary for pre-mRNA splicing in vitro. Cell 42:725-736.
14. Krawczak, M., J. Reiss, and D. N. Cooper. 1992. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 90:41-54.
15. Labourier, E., M. D. Adams, and D. C. Rio. 2001. Modulation of P-element pre-mRNA splicing by a direct interaction between PSI and U1 snRNP 70K protein. Mol. Cell 8:363-373. (Pubitemid 32831553)
16. Lewandowska, M. A., C. Stuani, A. Parvizpur, F. E. Baralle, and F. Pagani. 2005. Functional studies on the ATM intronic splicing processing element. Nucleic Acids Res. 33:4007-4015.
17. Lund, M., and J. Kjems. 2002. Defining a 5' splice site by functional selection in the presence and absence of U1 snRNA 5' end. RNA 8:166-179. (Pubitemid 34288904)
18. Manabe, T., T. Katayama, N. Sato, F. Gomi, J. Hitomi, T. Yanagita, T. Kudo, A. Honda, Y. Mori, S. Matsuzaki, K. Imaizumi, A. Mayeda, and M. Tohyama. 2003. Induced HMGA1a expression causes aberrant splicing of Presenilin- 2 pre-mRNA in sporadic Alzheimer's disease. Cell Death Differ. 10:698-708.
19. Manabe, T., K. Ohe, T. Katayama, S. Matsuzaki, T. Yanagita, H. Okuda, Y. Bando, K. Imaizumi, R. Reeves, M. Tohyama, and A. Mayeda. 2007. HMGA1a: sequence-specific RNA-binding factor causing sporadic Alzheimer's disease-linked exon skipping of presenilin-2 pre-mRNA. Genes Cells 12:1179-1191. (Pubitemid 47500531)
20. Matlin, A. J., and M. J. Moore. 2007. Spliceosome assembly and composition. Adv. Exp. Med. Biol. 623:14-35.
21. Mayeda, A., and A. R. Krainer. 1999. Mammalian in vitro splicing assays. Methods Mol. Biol. 118:315-321.
22. Novoyatleva, T., Y. Tang, I. Rafalska, and S. Stamm. 2006. Pre-mRNA missplicing as a cause of human disease. Prog. Mol. Subcell. Biol. 44:27-46.
23. Orengo, J. P., and T. A. Cooper. 2007. Alternative splicing in disease. Adv. Exp. Med. Biol. 623:212-223.
24. Pagani, F., E. Buratti, C. Stuani, R. Bendix, T. Dork, and F. E. Baralle. 2002. A new type of mutation causes a splicing defect in ATM. Nat. Genet. 30:426-429.
25. Pomeranz Krummel, D. A., C. Oubridge, A. K. Leung, J. Li, and K. Nagai. 2009. Crystal structure of human spliceosomal U1 snRNP at 5.5 Å resolution. Nature 458:475-480.
26. Reeves, R. 2001. Molecular biology of HMGA proteins: hubs of nuclear function. Gene 277:63-81. (Pubitemid 32972109)
27. Sambrook, J., E. F. Fritsch, and T. Maniatis. 1989. Molecular cloning: a laboratory manual, 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
28. Sanford, J. R., D. Longman, and J. F. Cáceres. 2003. Multiple roles of the SR protein family in splicing regulation. Prog. Mol. Subcell. Biol. 31:33-58.
29. Sato, N., O. Hori, A. Yamaguchi, J. C. Lambert, M. C. Chartier-Harlin, P. A. Robinson, A. Delacourte, A. M. Schmidt, T. Furuyama, K. Imaizumi, M. Tohyama, and T. Takagi. 1999. A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue. J. Neurochem. 72:2498-2505. (Pubitemid 29242201)
30. Sato, N., K. Imaizumi, T. Manabe, M. Taniguchi, J. Hitomi, T. Katayama, T. Yoneda, T. Morihara, Y. Yasuda, T. Takagi, T. Kudo, T. Tsuda, Y. Itoyama, T. Makifuchi, P. E. Fraser, P. St George-Hyslop, and M. Tohyama. 2001. Increased production of β-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2. J. Biol. Chem. 276: 2108-2114.
31. Sharma, S., L. A. Kohlstaedt, A. Damianov, D. C. Rio, and D. L. Black. 2008. Polypyrimidine tract binding protein controls the transition from exon definition to an intron defined spliceosome. Nat. Struct. Mol. Biol. 15:183-191.
32. Stark, H., P. Dube, R. Lührmann, and B. Kastner. 2001. Arrangement of RNA and proteins in the spliceosomal U1 small nuclear ribonucleoprotein particle. Nature 409:539-542. (Pubitemid 32144362)
33. St. George-Hyslop, P. H., and A. Petit. 2005. Molecular biology and genetics of Alzheimer's disease. C. R. Biol. 328:119-130.
34. Vilardell, J., P. Chartrand, R. H. Singer, and J. R. Warner. 2000. The odyssey of a regulated transcript. RNA 6:1773-1780.
35. Vilardell, J., and J. R. Warner. 1994. Regulation of splicing at an intermediate step in the formation of the spliceosome. Genes Dev. 8:211-220. (Pubitemid 24044344)
36. Wassarman, D. A., and J. A. Steitz. 1992. Interactions of small nuclear RNA's with precursor messenger RNA during in vitro splicing. Science 257:1918-1925.
37. Will, C. L., S. Rumpler, J. Klein Gunnewiek, W. J. van Venrooij, and R. Lührmann. 1996. In vitro reconstitution of mammalian U1 snRNPs active in splicing: the U1-C protein enhances the formation of early (E) spliceosomal complexes. Nucleic Acids Res. 24:4614-4623.
38. Wu, J. Y., and T. Maniatis. 1993. Specific interactions between proteins implicated in splice site selection and regulated alternative splicing. Cell 75:1061-1070.
39. Xing, Y., and C. Lee. 2007. Relating alternative splicing to proteome complexity and genome evolution. Adv. Exp. Med. Biol. 623:36-49.
40. Zhou, H. L., and H. Lou. 2008. Repression of prespliceosome complex formation at two distinct steps by Fox-1/Fox-2 proteins. Mol. Cell. Biol. 28:5507-5516.
41. Zhu, J., and A. R. Krainer. 2000. Pre-mRNA splicing in the absence of an SR protein RS domain. Genes Dev. 14:3166-3178. (Pubitemid 32015134)
42. Zuo, P., and T. Maniatis. 1996. The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing. Genes Dev. 10:1356-1368. (Pubitemid 26260715)