| First Author | Blazquez L | Year | 2018 |
| Journal | Mol Cell | Volume | 72 |
| Issue | 3 | Pages | 496-509.e9 |
| PubMed ID | 30388411 | Mgi Jnum | J:269138 |
| Mgi Id | MGI:6270101 | Doi | 10.1016/j.molcel.2018.09.033 |
| Citation | Blazquez L, et al. (2018) Exon Junction Complex Shapes the Transcriptome by Repressing Recursive Splicing. Mol Cell 72(3):496-509.e9 |
| abstractText | Recursive splicing (RS) starts by defining an "RS-exon," which is then spliced to the preceding exon, thus creating a recursive 5' splice site (RS-5ss). Previous studies focused on cryptic RS-exons, and now we find that the exon junction complex (EJC) represses RS of hundreds of annotated, mainly constitutive RS-exons. The core EJC factors, and the peripheral factors PNN and RNPS1, maintain RS-exon inclusion by repressing spliceosomal assembly on RS-5ss. The EJC also blocks 5ss located near exon-exon junctions, thus repressing inclusion of cryptic microexons. The prevalence of annotated RS-exons is high in deuterostomes, while the cryptic RS-exons are more prevalent in Drosophila, where EJC appears less capable of repressing RS. Notably, incomplete repression of RS also contributes to physiological alternative splicing of several human RS-exons. Finally, haploinsufficiency of the EJC factor Magoh in mice is associated with skipping of RS-exons in the brain, with relevance to the microcephaly phenotype and human diseases. |
