Journal article
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Nature communications, Vol.10(1), pp.797-797
02/15/2019
DOI: 10.1038/s41467-019-08548-9
PMCID: PMC6377633
PMID: 30770808
Abstract
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.
Details
- Title: Subtitle
- Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
- Creators
- María Cristina Estañ - Instituto de Investigaciones Biomédicas Sols-MorrealeElisa Fernández-Núñez - Instituto de Investigaciones Biomédicas Sols-MorrealeMaha S Zaki - Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, EgyptMaría Isabel Esteban - Hospital Universitario La PazSandra Donkervoort - National Institute of Neurological Disorders and StrokeCynthia Hawkins - University of TorontoJosé A Caparros-Martin - Instituto de Investigaciones Biomédicas Sols-MorrealeDimah Saade - National Institute of Neurological Disorders and StrokeYing Hu - National Institute of Neurological Disorders and StrokeVéronique Bolduc - National Institute of Neurological Disorders and StrokeKatherine Ru-Yui Chao - Broad InstituteJulián Nevado - Hospital Universitario La PazAna Lamuedra - Hospital Universitario Fundación Jiménez DíazRaquel Largo - Hospital Universitario Fundación Jiménez DíazGabriel Herrero-Beaumont - Hospital Universitario Fundación Jiménez DíazJavier Regadera - Universidad Autónoma de MadridConcepción Hernandez-Chico - Instituto de Investigación de Enfermedades RarasEduardo F Tizzano - Instituto de Investigación de Enfermedades RarasVictor Martinez-Glez - Hospital Universitario La PazJaime J Carvajal - Centro Andaluz de Biología del DesarrolloRuiting Zong - Baylor College of MedicineDavid L Nelson - Baylor College of MedicineGhada A Otaify - Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, EgyptSamia Temtamy - Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, EgyptMona Aglan - Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, EgyptMahmoud Issa - Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human Genetics, National Research Centre, Cairo, EgyptCarsten G Bönnemann - National Institute of Neurological Disorders and StrokePablo Lapunzina - Hospital Universitario La PazGrace Yoon - University of TorontoVictor L Ruiz-Perez - Hospital Universitario La Paz
- Resource Type
- Journal article
- Publication Details
- Nature communications, Vol.10(1), pp.797-797
- DOI
- 10.1038/s41467-019-08548-9
- PMID
- 30770808
- PMCID
- PMC6377633
- NLM abbreviation
- Nat Commun
- ISSN
- 2041-1723
- eISSN
- 2041-1723
- Grant note
- UM1 HG008900 / NHGRI NIH HHS
- Language
- English
- Date published
- 02/15/2019
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984354148102771
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