Exonic splicing enhancers: Mechanism of action, diversity and role in human genetic diseases

Trends in Biochemical Sciences

Volumn 25, Issue 3, 2000, Pages 106-110

  Blencowe, Benjamin J ^a  

^a UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ALTERNATIVE RNA SPLICING; EXON; GENETIC DISORDER; MODEL; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SHORT SURVEY; SPLICEOSOME;

EID: 0034161419     PISSN: 09680004     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0968-0004(00)01549-8     Document Type: Note

References (36)

1. Burge C.et al. Splicing of precursors to mRNAs by the spliceosomes. The RNA World II. 1999;Cold Spring Harbor Laboratory Press.
2. Kramer A. The structure and function of proteins involved in mammalian pre-mRNA splicing. Annu. Rev. Biochem. 65:1996;367-409.
3. Fu X-D. The superfamily of arginine/serine-rich splicing factors. RNA. 1:1995;663-680.
4. Manley J., Tacke R. SR proteins and splicing control. Genes Dev. 10:1996;1569-1579.
5. Blencowe B.J.et al. SR-related proteins and the processing of messenger RNA precursors. Biochem. Cell Biol. 77:1999;277-291.
6. Misteli T. RNA splicing: What has phosphorylation got to do with it? Curr. Biol. 9:1999;R198-R200.
7. Lopez A.J. Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation. Annu. Rev. Genet. 32:1998;279-305.
8. Wu J.Y., Maniatis T. Specific interactions between proteins implicated in splice site selection and regulated alternative splicing. Cell. 75:1993;1061-1070.
9. Kohtz J.D.et al. Protein-protein interactions and 5′-splice-site recognition in mammalian mRNA precursors. Nature. 368:1994;119-124.
10. Zamore P.D., Green M.R. Identification, purification, and biochemical characterization of U2 small nuclear ribonucleoprotein auxiliary factor. Proc. Natl. Acad. Sci. U. S. A. 86:1989;9243-9247.
11. Lavigueur A.et al. A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding. Genes Dev. 7:1993;2405-2417.
12. Wang Z.et al. Intrinsic U2AF binding is modulated by exon enhancer signals in parallel with changes in splicing activity. RNA. 1:1995;21-35.
13. Zuo P., Maniatis T. The splicing factor U2AF35 mediates critical protein-protein interactions in constitutive and enhancer-dependent splicing. Genes Dev. 10:1996;1356-1368.
14. Kan J.L.C., Green M.R. Pre-mRNA splicing of IgM exons M1 and M2 is directed by a juxtaposed splicing enhancer and inhibitor. Genes Dev. 13:1999;462-471.
15. Li Y., Blencowe B.J. Distinct factor requirements for exonic splicing enhancer function and binding of the U2 snRNP auxiliary factor to the polypyrimidine tract. J. Biol. Chem. 274:1999;35074-35079.
16. Guth S.et al. Evidence for substrate-specific requirement of the splicing factor U2AF(35) and for its function after polypyrimidine tract recognition by U2AF(65). Mol. Cell Biol. 19:1999;8263-8271.
17. Rudner D.Z.et al. Molecular genetic analysis of the heterodimeric splicing factor U2AF: the RS domain on either the large or small Drosophila subunit is dispensable in vivo. Genes Dev. 12:1998;1010-1021.
18. Merendino L.et al. Inhibition of msl-2 splicing by Sex-lethal reveals interaction between U2AF35 and the 3′ splice site AG. Nature. 402:1999;838-841.
19. Wu S.et al. Functional recognition of the 3′ splice site AG by the splicing factor U2AF35. Nature. 402:1999;832-835.
20. Zorio D.A., Blumenthal T. Both subunits of U2AF recognize the 3′ splice site in Caenorhabditis elegans. Nature. 402:1999;835-838.
21. Blencowe B.J.et al. A coactivator of pre-mRNA splicing. Genes Dev. 12:1998;996-1009.
22. Blencowe B.J.et al. The SRm160/300 splicing coactivator subunits. RNA. 6:2000;111-120.
23. Eldridge A.G.et al. The SRm160/300 splicing coactivator is required for exon-enhancer function. Proc. Natl. Acad. Sci. U. S. A. 96:1999;6125-6130.
24. Tacke R.et al. Human Tra2 proteins are sequence-specific activators of pre-mRNA splicing. Cell. 93:1998;139-148.
25. Abovich N., Rosbash M. Cross-intron bridging interactions in the yeast commitment complex are conserved in mammals. Cell. 89:1997;403-412.
26. Liu H-X.et al. Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins. Genes Dev. 12:1998;1998-2012.
27. Schaal T.D., Maniatis T. Selection and characterization of pre-mRNA splicing enhancers: identification of novel SR protein-specific enhancer sequences. Mol. Cell Biol. 19:1999;1705-1719.
28. Cooper T.A., Mattox W. The regulation of splice-site selection, and its role in human disease. Am. J. Hum. Genet. 61:1997;259-266.
29. Valentine C.R. The association of nonsense codons with exon skipping. Mutat. Res. 411:1998;87-117.
30. Günthert U.et al. A new variant of glycoprotein CD44 confers metastatic potential to rat carcinoma cells. Cell. 65:1991;13-24.
31. Blencowe B.J., Ouzounis C.A. The PWI motif: a new protein domain in splicing factors. Trends Biochem. Sci. 24:1999;179-180.
32. Zuo P., Manley J.L. Functional domains of the human splicing factor ASF/SF2. EMBO J. 12:1993;4727-4737.
33. Berget S. Exon recognition in vertebrate splicing. J. Biol. Chem. 270:1995;2411-2414.
34. D'Souza I.et al. Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements. Proc. Natl. Acad. Sci. U. S. A. 96:1999;5598-5603.
35. Shiga N.et al. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J. Clin. Invest. 100:1997;2204-2210.
36. Lorson C.L.et al. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. U. S. A. 96:1999;6307-6311.