Wilkinson ME, Charenton C, Nagai K (2020) RNA splicing by the spliceosome. Annu Rev Biochem 89:359–388. https://doi.org/10.1146/annurev-biochem-091719-064225
Article CAS PubMed Google Scholar
De Conti L, Baralle M, Buratti E (2013) Exon and intron definition in pre-mRNA splicing. WIREs RNA 4:49–60. https://doi.org/10.1002/wrna.1140
Article CAS PubMed Google Scholar
Fu XD, Ares M (2014) Context-dependent control of alternative splicing by RNA-binding proteins. Nat Rev Genet 15:689–701. https://doi.org/10.1038/nrg3778
Article CAS PubMed PubMed Central Google Scholar
Baralle FE, Giudice J (2017) Alternative splicing as a regulator of development and tissue identity. Nat Rev Mol Cell Biol 18:437–451. https://doi.org/10.1038/nrm.2017.27
Article CAS PubMed PubMed Central Google Scholar
Le Hir H, Gatfield D, Izaurralde E, Moore MJ (2001) The exon–exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay. EMBO J 20:4987–4997. https://doi.org/10.1093/emboj/20.17.4987
Article PubMed PubMed Central Google Scholar
Busetto V, Barbosa I, Basquin J, Marquenet É, Hocq R, Hennion M, Paternina JA, Namane A, Conti E, Bensaude O, Le Hir H (2020) Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes. Nucleic Acids Res 48:5670–5683. https://doi.org/10.1093/nar/gkaa267
Article CAS PubMed PubMed Central Google Scholar
Schlautmann LP, Gehring NH (2020) A Day in the Life of the Exon Junction Complex. Biomolecules 10:866. https://doi.org/10.3390/biom10060866
Article CAS PubMed PubMed Central Google Scholar
Hayashi R, Handler D, Ish-Horowicz D, Brennecke J (2014) The exon junction complex is required for definition and excision of neighboring introns in drosophila. Genes Dev 28:1772–1785. https://doi.org/10.1101/gad.245738.114
Article CAS PubMed PubMed Central Google Scholar
Shiimori M, Inoue K, Sakamoto H (2013) A specific set of exon junction complex subunits is required for the nuclear retention of unspliced RNAs in caenorhabditis elegans. Mol Cell Biol 33:444–456. https://doi.org/10.1128/MCB.01298-12
Article CAS PubMed PubMed Central Google Scholar
Wang Z, Murigneux V, Le Hir H (2014) Transcriptome-wide modulation of splicing by the exon junction complex. Genome Biol 15:551. https://doi.org/10.1186/s13059-014-0551-7
Article CAS PubMed PubMed Central Google Scholar
Ashton-Beaucage D, Udell CM, Lavoie H, Baril C, Lefrançois M, Chagnon P, Gendron P, Caron-Lizotte O, Bonneil É, Thibault P, Therrien M (2010) The exon junction complex controls the splicing of mapk and other long intron-containing transcripts in drosophila. Cell 143:251–262. https://doi.org/10.1016/j.cell.2010.09.014
Article CAS PubMed Google Scholar
Roignant JY, Treisman JE (2010) Exon junction complex subunits are required to splice drosophila map kinase, a large heterochromatic gene. Cell 143:238–250. https://doi.org/10.1016/j.cell.2010.09.036
Article CAS PubMed PubMed Central Google Scholar
Wang Z, Ballut L, Barbosa I, Le Hir H (2018) Exon junction complexes can have distinct functional flavours to regulate specific splicing events. Sci Rep 8:9509. https://doi.org/10.1038/s41598-018-27826-y
Article CAS PubMed PubMed Central Google Scholar
Leung CS, Johnson TL (2018) The exon junction complex: a multitasking guardian of the transcriptome. Mol Cell 72:799–801. https://doi.org/10.1016/j.molcel.2018.11.030
Article CAS PubMed PubMed Central Google Scholar
Boehm V, Britto-Borges T, Steckelberg AL, Sing KK, Gerbracht JV, Gueney E, Blazquez L, Altmüller J, Dieterich C, Gehring NH (2018) Exon junction complexes suppress spurious splice sites to safeguard transcriptome integrity. Mol Cell 72:482-495.e7. https://doi.org/10.1016/j.molcel.2018.08.030
Article CAS PubMed Google Scholar
Blazquez L, Emmett W, Faraway R, Pineda JMB, Bajew S, Gohr A, Haberman N, Sibley CR, Bradley RK, Irimia M, Ule J (2018) Exon junction complex shapes the transcriptome by repressing recursive splicing. Mol Cell 72:496-509.e9. https://doi.org/10.1016/j.molcel.2018.09.033
Article CAS PubMed PubMed Central Google Scholar
Joseph B, Lai EC (2021) The exon junction complex and intron removal prevent re-splicing of mRNA. PLOS Genet 17:e1009563. https://doi.org/10.1371/journal.pgen.1009563
Article CAS PubMed PubMed Central Google Scholar
Murachelli AG, Ebert J, Basquin C, Le Hir H, Conti E (2012) The structure of the ASAP core complex reveals the existence of a Pinin-containing PSAP complex. Nat Struct Mol Biol 19:378–386. https://doi.org/10.1038/nsmb.2242
Article CAS PubMed Google Scholar
Otani Y, Fujita K, Kameyama T, Mayeda A (2021) The exon junction complex core represses cancer- specific mature mRNA re-splicing: a potential key role in terminating splicing. Int J Mol Sci 22:6519. https://doi.org/10.3390/ijms22126519
Article CAS PubMed PubMed Central Google Scholar
Muntoni F, Torelli S, Ferlini A (2003) Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2:731–740. https://doi.org/10.1016/s1474-4422(03)00585-4
Article CAS PubMed Google Scholar
Duan D, Goemans N, Takeda S, Mercuri E, Aartsma-Rus A (2021) Duchenne muscular dystrophy. Nat Rev Dis Primer 7:13. https://doi.org/10.1038/s41572-021-00248-3
Naidoo M, Anthony K (2020) Dystrophin Dp71 and the neuropathophysiology of duchenne muscular dystrophy. Mol Neurobiol 57:1748–1767. https://doi.org/10.1007/s12035-019-01845-w
Article CAS PubMed Google Scholar
Bougé AL, Murauer E, Beyne E, Miro J, Varilh J, Taulan M, Koenig M, Claustres M, Tuffery-Giraud S, (2017) Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle. Sci Rep 7:39094. https://doi.org/10.1038/srep39094
Article CAS PubMed Google Scholar
Miro J, Bougé AL, Murauer E, Beyne E, Da Cunha D, Claustres M, Koenig M, Tuffery-Giraud S, (2020) First Identification of RNA-binding proteins that regulate alternative exons in the dystrophin gene. Int Mol Sci 21:7803. https://doi.org/10.3390/ijms21207803
Mamchaoui K, Trollet C, Bigot A, Negroni E, Chaouch S, Wolff A et al (2011) Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders. Skelet Muscle 1:34. https://doi.org/10.1186/2044-5040-1-34
Article PubMed PubMed Central Google Scholar
Miro J, Laaref AM, Rofidal V, Lagrafeuille R, Hem S, Thorel D, Méchin D, Mamchaoui K, Mouly V, Claustres M, Tuffery-Giraud S (2015) FUBP1: a new protagonist in splicing regulation of the DMD gene. Nucleic Acids Res 43:2378–2389. https://doi.org/10.1093/nar/gkv086
Article CAS PubMed PubMed Central Google Scholar
Pervouchine DD, Knowles DG, Guigo R (2013) Intron-centric estimation of alternative splicing from RNA- seq data. Bioinformatics 29:273–274. https://doi.org/10.1093/bioinformatics/bts678
Article CAS PubMed Google Scholar
Garrido-Martín D, Palumbo E, Guigó R, Breschi A, (2018) ggsashimi: Sashimi plot revised for browser- and annotation-independent splicing visualization. PLOS Comput Biol 14:e1006360. https://doi.org/10.1371/journal.pcbi.1006360
Article CAS PubMed PubMed Central Google Scholar
Meyer P, Notarnicola C, Meli AC, Matecki S, Hugon G, Salvador J, Khalil M, Féasson L, Cances C, Cottalorda J, Desguerre I, Cuisset JM, Sabouraud P, Lacampagne A, Chevassus H, Rivier F, Carnac G (2021) Skeletal ryanodine receptors are involved in impaired myogenic differentiation in duchenne muscular dystrophy patients. Int J Mol Sci 22:12985. https://doi.org/10.3390/ijms222312985
Article CAS PubMed PubMed Central Google Scholar
Yi Z, Sanjeev M, Singh G (2021) The Branched Nature of the Nonsense-Mediated mRNA Decay Pathway. Trends Genet 37:143–159. https://doi.org/10.1016/j.tig.2020.08.010
Article CAS PubMed Google Scholar
Kano S, Nishida K, Kurebe H, Nishiyama C, Kita K, Akaike Y, Kajita K, Kurokawa K, Masuda K, Kuwano Y, Tanahashi T, Rokutan K (2014) Oxidative stress-inducible truncated serine/arginine-rich splicing factor 3 regulates interleukin-8 production in human colon cancer cells. Am J Physiol Cell Physiol 306:C250–C262. https://doi.org/10.1152/ajpcell.00091.2013
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