Complex splicing control of the human Thrombopoietin gene by intronic G runs

Nucleic Acids Research

Volumn 35, Issue 1, 2007, Pages 132-142

  Marcucci, Roberto ^a   Baralle, Francisco E ^a   Romano, Maurizio ^a,b  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H1; SMALL INTERFERING RNA; THROMBOPOIETIN; UNCLASSIFIED DRUG;

ARTICLE; DNA FLANKING REGION; EXON; GENE ACTIVITY; GENE INSERTION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IN VIVO STUDY; INTRON; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN INTERACTION; RNA SPLICING;

ALTERNATIVE SPLICING; BASE SEQUENCE; BINDING SITES; CELL LINE; EXONS; GUANOSINE; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEIN GROUP F-H; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; RNA INTERFERENCE; RNA SPLICE SITES; RNA, MESSENGER; THROMBOPOIETIN;

EID: 33846701130     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gkl965     Document Type: Article

References (39)

1. Black,D.L. (2003) Mechanisms of alternative pre-messenger RNA splicing. Annu. Rev. Biochem., 72, 291-336.
2. Nussinov,R. (1987) (A)GGG(A), (A)CCC(A) and other potential 3′ splice signals in primate nuclear pre-mRNA sequences. Biochim. Biophys. Acta., 910, 261-270.
3. Nussinov,R. (1988) Conserved quartets near 5′ intron junctions in primate nuclear pre-mRNA. J. Theor. Biol., 133, 73-84,
4. Nussinov,R. (1989) Conserved signals around the 5′ splice sites in eukaryotic nuclear precursor mRNAs: G-runs are frequent in the introns and C in the exons near both 5′ and 3′ splice sites. J. Biomol. Struct. Dyn., 6, 985-1000.
5. Sirand-Pugnet,P., Durosay,P., Brody,E. and Marie,J. (1995) An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA. Nucleic Acids Res., 23, 3501-3507.
6. Carlo,T., Sterner,D.A. and Berget,S.M. (1996) An intron splicing enhancer containing a G-rich repeat facilitates inclusion of a vertebrate micro-exon. Rna, 2, 342-353.
7. McCullough,A.J. and Berget,S.M. (1997) G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection. Mol. Cell Biol., 17, 4562-4571.
8. Han,K., Yeo,G., An,P., Burge,C.B. and Grabowski,P.J. (2005) A combinatorial code for splicing silencing: UAGG and GGGG motifs. PLoS Biol., 3, e158.
9. Cogan,J.D., Prince,M.A., Lekhakula,S., Bundey,S., Futrakul,A., McCarthy,E.M. and Phillips,J.A., 3rd (1997) A novel mechanism of aberrant pre-mRNA splicing in humans. Hum. Mol. Genet, 6, 909-912.
10. McCardiy,E.M. and Phillips,J.A., 3rd (1998) Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA. Hum. Mol. Genet, 7, 1491-1496.
11. Romano,M., Marcucci,R., Buratti,E., Ayala,Y.M., Sebastio,G. and Baralle,F.E. (2002) Regulation of 3′ splice site selection in the 844ins68 polymorphism of the cystathionine b-synthase gene. J. Biol. Chem., 12, 12.
12. Mine,M., Brivet,M., Touati,G., Grabowski,P., Abitbol,M. and Marsac,C. (2003) Splicing error in Elalpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation. J. Biol. Chem., 278, 11768-11772.
13. Garneau,D., Revil,T., Fisette,J.F. and Chabot,B. (2005) Heterogeneous Nuclear Ribonueleoprotein F/H Proteins Modulate the Alternative Splicing of the Apoptotic Mediator Bcl-x. J. Biol. Chem., 280, 22641-22650.
14. Grabowski,P.J. (2004) A molecular code for splicing silencing: configurations of guanosine-rich motifs. Biochem. Soc. Trans., 32, 924-927.
15. Kaushansky,K. (1997) Thrombopoiefin: Understanding and manipulating platelet production. Annu. Rev. Med., 48, 1-11.
16. Gurney,A.L., Kuang,W.J., Yie,M.H., Malloy,B.E., Eaton,D.L. and de Sauvage,F.J.(1995) Genomic structure, chromosomal localization, and conserved alternative splice forms of thrombopoietin. Blood, 85, 981-988.
17. Li,B., Pan,H., Winkelmann,J.C. and Dai,W. (1996) Thrombopoietin and its alternatively spliced form are expressed in human amygdala and hippocampus. Blood, 87, 5382-5384.
18. Ghilardi,N., Wiestner,A. and Skoda,R.C. (1998) Thrombopoietin production is inhibited by a translational mechanism. Blood, 92, 4023-4030.
19. Ausubel,F.M., Brent,R., Kingston,R.E., Moore,D.D., Seidman,J.G., Smith,J.A. and Struhl,K. (1992) Short Protocols in Molecular Biology. Greene Publishing Associates, New York.
20. Caputi,M. and Zahler,A.M. (2001) Determination of the RNA binding specificity of the heterogeneous nuclear ribonucleoprotein (hnRNP) H/H'/ F/2H9 family. J. Biol. Chem., 276, 43850-43859.
21. Expert-Bezancon,A., Sureau,A., Durosay,P., Salesse,R., Groeneveld,H., Lecaer,J.P.and Marie,J. (2004) hnRNP A1 and the SR proteins ASF/SF2 and SC35 have antagonistic,functions in splicing of beta-tropomyosin exon 6B. J. Biol. Chem., 279, 38249-38259.
22. Yeo,G., Hoon,S., Venkatesh,B. and Burge,C.B. (2004) Variation in sequence and organization of splicing regulatory elements in vertebrate genes. Proc. Natl Acad Sci.USA, 101, 15700-15705.
23. Matunis,M.J., Xing,J. and Dreyfuss,G. (1994) The hnRNP F protein: Unique primary structure, nucleic acid-binding properties, and subcellular localization. Nucleic Acids Res., 22, 1059-1067.
24. Chou,M.Y., Rooke,N., Turck, C.W. and Black,D.L. (1999) hnRNP H is a component of a splicing enhancer complex that activates a c-src; alternative exon in neuronal cells. Mol. Cell Biol., 19, 69-77.
25. Chen,C.D., Kobayashi,R. and Helfman,D.M. (1999) Binding of hnRNP H to an exonic splicing silencer is involved in the regulation of alternative splicing of the rat beta-tropomyosin gene. Genes Dev., 13, 593-606.
26. Jacquene,S., Mereau,A., Bilodeau,P.S., Damier,L., Stoltzfus,C.M. and Branlant,C.(2001) A second exon splicing silencer within human immunodeficiency virus type 1 tat exon 2 represses splicing of Tat mRNA and binds protein hnRNP H. J. Biol. Chem.,276, 40464-40475.
27. Pagani,F., Buratti,E., Stuani,C. and Baralle,F.E. (2003) Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9. J. Biol. Chem., 278, 26580-26588.
28. Buratti,E., Baralle,M., De Conti,L., Baralle,D., Romano,M., Ayala,Y.M. and Baralle,F.E. (2004) hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes. Nucleic Acids Res., 32, 4224-4236.
29. Damell,J.C., Jensen,K.B., Jin,P., Brown,V., Warren,S.T. and Darnell,R.B. (2001) Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Cell, 107, 489-499.
30. Damgaard,C.K., Tange,T.O. and Kjems,J. (2002) hnRNP A1 controls, HIV-1 mRNA splicing through cooperative binding to intron and exon splicing silencers in the context of a conserved secondary structure. Rna, 8, 1401-1415.
31. Stoltzfus,C.M. and Madsen,J.M. (2006) Role of viral splicing elements and cellular RNA binding proteins in regulation of HIV-1 alternative RNA splicing. Curr. HIV Res., 4, 43-55.
32. Zhu,J., Mayeda,A. and Krainer,A.R. (2001) Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins. Mol. Cell, 8, 1351-1361.
33. Nishimura,H., Washizu,J., Nakamura,N., Enomoto,A. and Yoshikai,Y. (1998) Translational efficiency is up-regulated by alternative exon in murine IL-15 mRNA. J. Immunol., 160, 936-942.
34. Arora,S. and Chauhan,S.S. (2002) Identification and characterization of a novel human cathepsin L splice variant. Gene, 293, 123-131.
35. Shalev,A., Blair,P.J., Hoffmann,S.C., Hirshberg,B., Peculis,B.A. and Harlan,D.M.(2002) A proinsulin gene splice variant with increased translation efficiency is expressed in human pancreatic islets. Endocrinology, 143, 2541-2547.
36. Konig,H., Ponta,H. and Herrlich,P. (1998) Coupling of signal transduction to alternative pre-mRNA splicing by a composite splice regulator. Embo J., 17, 2904-2913.
37. Zwicky,R., Muntener,K., Csucs,G., Goldring,M.B. and Baici,A. (2003) Exploring the role of 5′ alternative splicing and of the 3′-untranslated region of cathepsin B mRNA. Biol. Chem., 384, 1007-1018.
38. Minn,A.H., Kayton,M., Lorang,D., Hoffmann,S.C., Harlan,D.M., Libutti,S.K. and Shalev,A. (2004) Insulinomas and expression of an insulin splice variant. Lancet, 363, 363-367.
39. Boissel,J.P., Zelenka,M., Godtel-Armbrust,U., Feuerstein,T.J. and Forstermann,U.(2003) Transcription of different exons 1 of the human neuronal nitric oxide synthase gene is dynamically regulated in a cell- and stimulus-specific manner. Biol. Chem., 384, 351-362.