Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
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 F...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2019 |
| País: | España |
| Institución: | Universidad Autónoma de Madrid |
| Repositorio: | Biblos-e Archivo. Repositorio Institucional de la UAM |
| Idioma: | inglés |
| OAI Identifier: | oai:repositorio.uam.es:10486/688388 |
| Acceso en línea: | http://hdl.handle.net/10486/688388 https://dx.doi.org/10.1038/s41467-019-08548-9 |
| Access Level: | acceso abierto |
| Palabra clave: | FXR1 FXR1P Recessive mutations Myopath Protein Medicina |
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Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathyEstañ, María CristinaFernández-Núñez, ElisaZaki, Maha S.Esteban, María IsabelDonkervoort, SandraHawkins, CynthiaCaparros-Martin, José A.Saade, DimahHu, YingBolduc, VéroniqueChao, Katherine Ru YuiNevado, JuliánLamuedra, AnaLargo, RaquelHerrero-Beaumont Cuenca, GabrielRegadera, JavierHernandez-Chico, ConcepciónTizzano, Eduardo F.Martinez-Glez, VictorCarvajal, Jaime J.Zong, RuitingNelson, David L.Otaify, Ghada A.Temtamy, SamiaAglan, MonaIssa, MahmoudBönnemann, Carsten G.Lapunzina, PabloYoon, GraceRuiz-Perez, Victor L.FXR1FXR1PRecessive mutationsMyopathProteinMedicinaFXR1 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.This work was financially supported by the Spanish Ministry of Economy and Competitiveness (SAF2013-43365- R/SAF2016-75434-R) and CIBERER (ACCI 2017). The work performed at the NIH was supported by intramural funds from the NIH National Institute of Neurological Disorders and Stroke. Sequencing analysis was provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics and was funded by the National Human Genome Research Institute, the National Eye Institute and the National Heart, Lung and Blood Institute grant UM1 HG008900 to Daniel MacArthur and Heidi Rehm. The Broad Center for Mendelian Genomics (UM1 HG008900) is funded by the National Human Genome Research Institute with supplemental funding provided by the National Heart, Lung, and Blood Institute under the Trans-Omics for Precision Medicine (TOPMed) program and the National Eye Institute.Springer NatureDepartamento de Anatomía, Histología y NeurocienciaDepartamento de MedicinaFacultad de MedicinaInstituto de Investigaciones Biomédicas "Alberto Sols" (IIBM)Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD)Instituto de Investigación Sanitaria del Hospital Universitario de La Paz (IdiPAZ)20192019-01-01research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10486/688388https://dx.doi.org/10.1038/s41467-019-08548-9reponame:Biblos-e Archivo. Repositorio Institucional de la UAMinstname:Universidad Autónoma de MadridInglésengopen accesshttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessoai:repositorio.uam.es:10486/6883882026-06-23T12:46:27Z |
| dc.title.none.fl_str_mv |
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 |
| spellingShingle |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy Estañ, María Cristina FXR1 FXR1P Recessive mutations Myopath Protein Medicina |
| title_short |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| title_full |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| title_fullStr |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| title_full_unstemmed |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| title_sort |
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| dc.creator.none.fl_str_mv |
Estañ, María Cristina Fernández-Núñez, Elisa Zaki, Maha S. Esteban, María Isabel Donkervoort, Sandra Hawkins, Cynthia Caparros-Martin, José A. Saade, Dimah Hu, Ying Bolduc, Véronique Chao, Katherine Ru Yui Nevado, Julián Lamuedra, Ana Largo, Raquel Herrero-Beaumont Cuenca, Gabriel Regadera, Javier Hernandez-Chico, Concepción Tizzano, Eduardo F. Martinez-Glez, Victor Carvajal, Jaime J. Zong, Ruiting Nelson, David L. Otaify, Ghada A. Temtamy, Samia Aglan, Mona Issa, Mahmoud Bönnemann, Carsten G. Lapunzina, Pablo Yoon, Grace Ruiz-Perez, Victor L. |
| author |
Estañ, María Cristina |
| author_facet |
Estañ, María Cristina Fernández-Núñez, Elisa Zaki, Maha S. Esteban, María Isabel Donkervoort, Sandra Hawkins, Cynthia Caparros-Martin, José A. Saade, Dimah Hu, Ying Bolduc, Véronique Chao, Katherine Ru Yui Nevado, Julián Lamuedra, Ana Largo, Raquel Herrero-Beaumont Cuenca, Gabriel Regadera, Javier Hernandez-Chico, Concepción Tizzano, Eduardo F. Martinez-Glez, Victor Carvajal, Jaime J. Zong, Ruiting Nelson, David L. Otaify, Ghada A. Temtamy, Samia Aglan, Mona Issa, Mahmoud Bönnemann, Carsten G. Lapunzina, Pablo Yoon, Grace Ruiz-Perez, Victor L. |
| author_role |
author |
| author2 |
Fernández-Núñez, Elisa Zaki, Maha S. Esteban, María Isabel Donkervoort, Sandra Hawkins, Cynthia Caparros-Martin, José A. Saade, Dimah Hu, Ying Bolduc, Véronique Chao, Katherine Ru Yui Nevado, Julián Lamuedra, Ana Largo, Raquel Herrero-Beaumont Cuenca, Gabriel Regadera, Javier Hernandez-Chico, Concepción Tizzano, Eduardo F. Martinez-Glez, Victor Carvajal, Jaime J. Zong, Ruiting Nelson, David L. Otaify, Ghada A. Temtamy, Samia Aglan, Mona Issa, Mahmoud Bönnemann, Carsten G. Lapunzina, Pablo Yoon, Grace Ruiz-Perez, Victor L. |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Departamento de Anatomía, Histología y Neurociencia Departamento de Medicina Facultad de Medicina Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM) Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD) Instituto de Investigación Sanitaria del Hospital Universitario de La Paz (IdiPAZ) |
| dc.subject.none.fl_str_mv |
FXR1 FXR1P Recessive mutations Myopath Protein Medicina |
| topic |
FXR1 FXR1P Recessive mutations Myopath Protein Medicina |
| 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. |
| publishDate |
2019 |
| dc.date.none.fl_str_mv |
2019 2019-01-01 |
| dc.type.none.fl_str_mv |
research article http://purl.org/coar/resource_type/c_2df8fbb1 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
http://hdl.handle.net/10486/688388 https://dx.doi.org/10.1038/s41467-019-08548-9 |
| url |
http://hdl.handle.net/10486/688388 https://dx.doi.org/10.1038/s41467-019-08548-9 |
| dc.language.none.fl_str_mv |
Inglés eng |
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Inglés |
| language |
eng |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 |
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openAccess |
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application/pdf |
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Springer Nature |
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Springer Nature |
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reponame:Biblos-e Archivo. Repositorio Institucional de la UAM instname:Universidad Autónoma de Madrid |
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Universidad Autónoma de Madrid |
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Biblos-e Archivo. Repositorio Institucional de la UAM |
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