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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 principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377633/ https://www.ncbi.nlm.nih.gov/pubmed/30770808 http://dx.doi.org/10.1038/s41467-019-08548-9 |
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author | 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, 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_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, 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_sort | Estañ, María Cristina |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-6377633 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-63776332019-02-19 Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy 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, 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. Nat Commun Article 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. Nature Publishing Group UK 2019-02-15 /pmc/articles/PMC6377633/ /pubmed/30770808 http://dx.doi.org/10.1038/s41467-019-08548-9 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Article 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, 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. 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 |
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_short | 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 |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377633/ https://www.ncbi.nlm.nih.gov/pubmed/30770808 http://dx.doi.org/10.1038/s41467-019-08548-9 |
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