Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
| Title: | Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
|---|---|
| Authors: | Maria Cristina Estan; Elisa Fernandez-Nunez; Maha S Zaki; Maria Isabel Esteban; Sandra Donkervoort; Cynthia Hawkins; Jose A Caparros-Martin; Dimah Saade; Ying Hu; Veronique Bolduc; Katherine Ru-Yui Chao; Julian Nevado; Ana Lamuedra; Raquel Largo; Gabriel Herrero-Beaumont; Javier Ragavendra; Concepcion Hernandez-Chico; Eduardo F Tizzano; Victor Martinez-Glez; Jaime J Carvajal; Ruiting Zong; David L Nelson; Ghada A Otaify; Samia Temtamy; Mona Aglan; Mahmoud Issa; Carsten G Bonnemann; Pablo Lapunzina; Grace Yoon; Victor L Ruiz-Perez |
| Publication Year: | 2019 |
| Collection: | University of Leicester: Figshare |
| Subject Terms: | Science & Technology; Multidisciplinary Sciences; Science & Technology - Other Topics; MENTAL-RETARDATION PROTEIN; RNA-BINDING PROTEIN; MUSCULAR-DYSTROPHY; SKELETAL-MUSCLE; READ ALIGNMENT; EXPRESSION; FMR1; GENE; ASSOCIATION; DISCOVERY |
| Description: | FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein. |
| Document Type: | article in journal/newspaper |
| Language: | unknown |
| Relation: | 2381/11815035.v1 |
| Availability: | https://figshare.com/articles/journal_contribution/Recessive_mutations_in_muscle-specific_isoforms_of_FXR1_cause_congenital_multi-minicore_myopathy/11815035 |
| Rights: | CC BY 4.0 |
| Accession Number: | edsbas.27BFB387 |
| Database: | BASE |