{"doi":"10.1083/jcb.201911129","title":"FXR1 splicing is important for muscle development and biomolecular condensates in muscle cells","abstract":"Fragile-X mental retardation autosomal homologue-1 (FXR1) is a muscle-enriched RNA-binding protein. FXR1 depletion is perinatally lethal in mice, Xenopus, and zebrafish; however, the mechanisms driving these phenotypes remain unclear. The FXR1 gene undergoes alternative splicing, producing multiple protein isoforms and mis-splicing has been implicated in disease. Furthermore, mutations that cause frameshifts in muscle-specific isoforms result in congenital multi-minicore myopathy. We observed that FXR1 alternative splicing is pronounced in the serine- and arginine-rich intrinsically disordered domain; these domains are known to promote biomolecular condensation. Here, we show that tissue-specific splicing of fxr1 is required for Xenopus development and alters the disordered domain of FXR1. FXR1 isoforms vary in the formation of RNA-dependent biomolecular condensates in cells and in vitro. This work shows that regulation of tissue-specific splicing can influence FXR1 condensates in muscle development and how mis-splicing promotes disease.","journal":"The Journal of Cell Biology","year":2020,"id":67270,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":47,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9579,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":356325,"name":"Ennessa G. Curry","orcid":"0000-0002-4617-6971","position":1,"is_corresponding":false},{"id":356326,"name":"R. Eric Blue","orcid":"0000-0002-9774-6778","position":2,"is_corresponding":false},{"id":5956,"name":"Christine Roden","orcid":"0000-0002-3750-4865","position":3,"is_corresponding":false},{"id":356327,"name":"Samantha E. R. Dundon","orcid":"0000-0001-8032-7975","position":4,"is_corresponding":false},{"id":356328,"name":"Anthony Rodríguez-Vargas","orcid":"0000-0003-0306-2015","position":5,"is_corresponding":false},{"id":332032,"name":"Danielle C. Jordan","orcid":"0000-0001-5267-7724","position":6,"is_corresponding":false},{"id":114027,"name":"Xiaomin Chen","orcid":null,"position":7,"is_corresponding":false},{"id":108011,"name":"Shawn M. Lyons","orcid":"0000-0002-2289-6392","position":8,"is_corresponding":false},{"id":357551,"name":"John Crutchley","orcid":null,"position":9,"is_corresponding":false},{"id":35039,"name":" Paul Anderson","orcid":"0000-0001-5349-281X","position":10,"is_corresponding":false},{"id":332033,"name":"Marko E. Horb","orcid":"0000-0002-5067-0518","position":11,"is_corresponding":false},{"id":5955,"name":"Amy S. Gladfelter","orcid":"0000-0002-2490-6945","position":12,"is_corresponding":false},{"id":356329,"name":"Jimena Giudice","orcid":"0000-0002-3330-7784","position":13,"is_corresponding":false},{"id":356324,"name":"Jean A. Smith","orcid":"0000-0002-8981-9930","position":0,"is_corresponding":true}],"reference_count":64,"raw_metadata":null,"created_at":"2026-07-18T21:15:12.020735Z","pmid":"32328638","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}