Evolving concepts on human SMN pre-mRNA splicing

RNA Biology

Volumn 4, Issue 1, 2007, Pages 7-10

  Singh, Ravindra N ^a  

^a IOWA STATE UNIVERSITY   (United States)

Author keywords

Alternative splicing; Antisense oligonucleotide; Enhancer; ISS N1; RNA structure; Silencer; SMA; SMN

Indexed keywords

OLIGONUCLEOTIDE; SURVIVAL MOTOR NEURON PROTEIN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; MESSENGER RNA; NERVE PROTEIN; RNA BINDING PROTEIN; SMN PROTEIN (SPINAL MUSCULAR ATROPHY); UNCLASSIFIED DRUG;

EXON; GENE MUTATION; HUMAN; IN VITRO STUDY; IN VIVO STUDY; REVIEW; RNA INTERFERENCE; RNA SPLICING; ARTICLE; GENETICS; INTRON; MUTATION;

CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; EXONS; HUMANS; INTRONS; MUTATION; NERVE TISSUE PROTEINS; RNA SPLICING; RNA, MESSENGER; RNA-BINDING PROTEINS;

EID: 34447505071     PISSN: 15476286     EISSN: 15558584     Source Type: Journal    
DOI: 10.4161/rna.4.1.4535     Document Type: Review

References (28)

1. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, LePaslier D, Frezal F, Cohen D, Weissenbach J, Munnich A, Melki J. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80:1-5.
2. Singh NN, Androphy EJ, Singh RN. The regulation and regulatory activities of alternative splicing of the SMN gene. Crit Rev Eukaryot Gene Expr 2004; 14:271-85.
3. Wirth B, Brichta L, Hahnen E. Spinal muscular atrophy and therapeutic prospects. Prog Mol Subcell Biol 2006; 44:109-32.
4. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA 1999; 96:6307-11.
5. Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AH, McPherson JD. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999; 8:1177-83.
6. Lorson CL, Androphy EJ. An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN. Hum Mol Genet 2000; 9:259-65.
7. Hofmann Y, Lorson CL, Stamm S, Androphy EJ, Wirth B. Htra2-b1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci USA 2000; 97:9618-23.
8. Hofmann Y, Wirth B. hnRNP-G promotes exon inclusion of survival motor neuron (SMN) via direct interaction with Htra2-b1. Hum Mol Genet 2002; 11:2037-49.
9. Young PJ, DiDonato CJ, Hu D, Kothary R, Androphy EJ, Lorson CL. SRp30c-dependent stimulation of survival motor neuron (SMN) exon inclusion is facilitated by a direct interaction with hTra2-b1. Hum Mol Genet 2002; 11:577-87.
10. Stoss O, Novoyatleva T, Gencheva M, Olbrich M, Benderska N, Stamm S. P59(fyn)-mediated phosphorylation regulates the activity of the tissue-specific splicing factor rSLM-1. Mol Cell Neurosci 2004; 27:8-21.
11. Cartegni L, Krainer AR. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat Genet 2002; 30:377-384.
12. Cartegni L, Hastings ML, Calarco JA, de Stanchina E, Krainer AR. Determinants of exon splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet 2006; 78:63-77.
13. Kashima T, Manley JL. A negative element in SMN2 exon inhibits splicing in spinal muscular atrophy. Nat Genet 2003; 34:460-63.
14. Kashima T, Rao N, Manley JL. An intronic element contributes to splicing repression in spinal muscular atrophy. Proc Natl Acad Sci USA 2007; 104:3426-431.
15. Singh NN, Androphy EJ, Singh RN. An extended inhibitory context causes skipping of exon of SMN2 in spinal muscular atrophy. Biochem Biophys Res Commun 2004; 315:381-88.
16. Hua Y, Vickers TA, Baker BF, Bennett CF, Krainer AR. Enhancement of SMN2 exon inclusion by antisense oligonucleotides targeting the exon. PLoS Biol 2007; 13:5(4):e73.
17. Singh NN, Androphy EJ, Singh RN. In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA 2004; 10:1291-305.
18. Buratti E, Baralle FE. Another step forward for SELEXive splicing. Trends Mol Med 2005; 11:5-9.
19. Singh RN. Unfolding the mystery of alternative splicing through a unique method of in vivo selection. Front Biosci 2007; 12:3263-272.
20. Singh NN, Singh RN, Androphy EJ. Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. Nucleic Acids Res 2007; 35:371-89.
21. Miyajima H, Miyaso H, Okumura M, Kurisu J, Imaizumi K. Identification of a cis-acting element for the regulation of SMN exon 7 splicing. J Biol Chem 2002; 277:23271-77.
22. Miyaso H, Okumura M, Kondo S, Higashide S, Miyajima H, Imaizumi K. An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA. J Biol Chem 2003; 278:15825-31.
23. Singh NK, Singh NN, Androphy EJ, Singh RN. Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol 2006; 26:1333-46.
24. Skordis LA, Dunckley MG, Yue B, Eperon IC, Muntoni F. Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts. Proc Natl Acad Sci USA 2003; 100:4114-9.
25. Cartegni L, Krainer AR. Correction of disease-associated exon skipping by synthetic exon-specific activators. Nat Struct Biol 2003; 10:120-5.
26. Baughan T, Shababi M, Coady TH, Dickson AM, Tullis GE, Lorson CL. Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector. Mol Ther 2006; 14:54-62.
27. Marquis J, Meyer K, Angehrn L, Kampfer SS, Rothen-Rutishauser B, Schumperli D. Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence. Mol Ther 2007; doi:10.1038/sj.mt.6300200.
28. Madocsai C, Lim SR, Geib T, Lam BJ, Hertel KJ. Correction of SMN2 pre-mRNA splicing by antisense U7 small nuclear RNAs. Mol Ther 2005; 12:1013-22.