Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
Animals
Cells, Cultured
Exons
/ genetics
Gene Expression
Genes, Recessive
Genetic Predisposition to Disease
/ genetics
HEK293 Cells
HeLa Cells
Humans
Mice, Transgenic
Muscle, Skeletal
/ metabolism
Mutation
Myopathies, Structural, Congenital
/ congenital
Ophthalmoplegia
/ congenital
RNA-Binding Proteins
/ genetics
Ryanodine Receptor Calcium Release Channel
/ deficiency
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
15 02 2019
15 02 2019
Historique:
received:
04
04
2018
accepted:
18
01
2019
entrez:
17
2
2019
pubmed:
17
2
2019
medline:
2
4
2019
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 30770808
doi: 10.1038/s41467-019-08548-9
pii: 10.1038/s41467-019-08548-9
pmc: PMC6377633
doi:
Substances chimiques
FXR1 protein, human
0
Fxr1h protein, mouse
0
RNA-Binding Proteins
0
Ryanodine Receptor Calcium Release Channel
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
797Subventions
Organisme : NHGRI NIH HHS
ID : UM1 HG008900
Pays : United States
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