학술논문
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Document Type
Original Paper
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.
Source
Nature Communications. 10(1)
Subject
Language
English
ISSN
2041-1723
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.
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.