Table 1.
Factors tested for an effect on SMN2 exon 7 splicing
| Effect of overexpression | Effect of depletion | ||||||
|---|---|---|---|---|---|---|---|
| Factor (Gene) | Effect on exon 7 splicing | Binding Location | SMN2m | SMN2g | SMN2m | SMN2g | References |
| ASF/SF2 (SRSF1) | Positive Neutral |
Exon 7 | No | Yes | No | Yes No |
[46, 47, 66,37, 53, 67, 68, 48] |
| SC35 (SRSF2) | Negative Neutral |
– | No | Yes | ND | Yes | [64, 47, 48] |
| SRp20 (SRSF3) | Negative Neutral |
– | No | Yes | ND | Yes | [64, 48] |
| SRp75 (SRSF4) | Negative | – | ND | No | ND | Yes | [48] |
| SRp40 (SRSF5) | Negative Neutral |
– | No | Yes | ND | Yes | [64, 48] |
| SRp55 (SRSF6) | Negative Neutral |
– | No | No | ND | Yes | [64, 48] |
| 9G8 (SRSF7) | Negative Neutral |
– | No | Yes | Yes | Yes | [47, 64, 69, 48] |
| SRp30c (SRSF9) | Positive Neutral |
– | Yes | No | ND | No | [64, 67, 48] |
| SRp38 (SRSF10) | Neutral | – | ND | No | ND | No | [48] |
| SRSF11 (SRSF11) | Negative | – | ND | Yes | ND | Yes | [48] |
| Tra2-β1 (TRA2B) | Positive | Exon 7 | Yes | Yes | No | ND | [59, 64, 60, 70] |
| ZIS/ZNF265 (ZRANB2) | Negative | – | Yes | ND | ND | ND | [71] |
| hnRNP A1 (HNRNPA1) | Negative | Exon 7, Intron 7, 3′ss | ND | Yes | Yes | Yes | [47, 66, 37, 53, 60, 67, 52, 51, 69, 50] |
| hnRNPA2/B1 (HNRNPA2/B1) | Negative | – | ND | ND | Yes | Yes | [47, 37, 67, 52, 69, 50, 48] |
| hnRNPC (HNRNPC) | Positive Negative Neutral |
I6–E7 junction | ND | ND | No; Yes | Yes | [68, 69, 48] |
| hnRNP D (HNRNPD) | Neutral | – | ND | ND | ND | No | [48] |
| hnRNP F (HNRNPF) | Neutral | – | ND | ND | No | No | [69, 48] |
| hnRNP G (RBMX) | Positive | Exon 7 | Yes | ND | ND | ND | [63, 72, 70, 60, 73] |
| hnRNP H (HNRNPH1) | Neutral | – | ND | ND | Yes; No | No | [51, 69, 48] |
| hnRNP K (HNRNPK) | Neutral | – | ND | ND | No | ND | [69] |
| hnRNP L (HNRNPL) | Neutral | – | ND | ND | No | ND | [69] |
| hnRNP M (HNRNPM) | Positive | – | Yes | ND | Yes | Yes | [67, 69, 62] |
| RALY (RALY) | Neutral | – | ND | ND | No | ND | [69] |
| hnRNP Q (SYNCRIP) | Positive | Exon 7 | Yes | Yes | Yes | ND | [67] |
| hnRNP U (HNRNPU) | Negative | – | ND | Yes | ND | Yes | [69, 48] |
| CHERP (CHERP) | Negative | – | ND | ND | Yes | ND | [69] |
| HuR (ELAVL1) | Negative | 3′-UTR | ND | ND | ND | Yes | [48] |
| PSF (SFPQ) | Positive | Exon 7 | Yes | Yes | ND | Yes | [67, 62] |
| PUF60 (PUF60) | Negative | 3′ss | ND | ND | Yes | Yes | [69, 74] |
| TDP-43 (TARDBP) | Positive | – | Yes | ND | No | ND | [60] |
| TIA1 (TIA1) | Positive | Intron 7 | Yes | Yes | Yes | Yes | [75] |
| RBM10 (RBM10) | Negative | – | ND | ND | Yes | Yes | [69, 76] |
| Sam68 (KHDRBS1) | Negative | Exon 7 | Yes | ND | Yes | ND | [55] |
| SF1 (SF1) | Negative | Branch Point | ND | ND | Yes | ND | [69] |
| SmD3 (SNRPD3) | Positive | – | ND | ND | ND | Yes | [77] |
| SON (SON) | Negative | – | ND | ND | Yes | ND | [69] |
| U1–70K (SNRNP70) | Positive | – | ND | ND | ND | Yes | [77] |
| U2AF35 (U2AF1) | Negative | – | ND | ND | Yes | Yes | [69] |
| U2AF65 (U2AF2) | Negative | 3′ss | ND | ND | Yes | Yes | [67, 69, 74] |
| U2B″ (U2B″) | Positive | – | ND | ND | ND | Yes | [77] |
Abbreviations: positive, positive effect on exon 7 splicing; negative, negative effect on exon 7 splicing; neutral, neutral effect on exon 7 splicing; 3′ss, 3′ splice site; 3′-UTR, 3′-untranslated region; ND, not performed or assayed; Yes, observed; No, not observed; SMN2m, SMN2 minigene; SMN2g, Endogenous SMN2 gene