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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...

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Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
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.
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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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