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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Abstract
Centronuclear myopathies are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibers not secondary to regeneration. The severe neonatal X-linked form (myotubular myopathy) is due to mutations in the phosphoinositide phosphatase myotubularin (MTM1), whereas mutations in dynamin 2 (DNM2) have been found in some autosomal dominant cases. By direct sequencing of functional candidate genes, we identified homozygous mutations in amphiphysin 2 (BIN1) in three families with autosomal recessive inheritance. Two missense mutations affecting the BAR (Bin1/amphiphysin/RVS167) domain disrupt its membrane tubulation properties in transfected cells, and a partial truncation of the C-terminal SH3 domain abrogates the interaction with DNM2 and its recruitment to the membrane tubules. Our results suggest that mutations in BIN1 cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the functional interaction between BIN1 and DNM2 is necessary for normal muscle function and positioning of nuclei.
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“Moreover, the residues encoded by the alternatively spliced exon 7 within the BAR domain promotes BIN1 interaction with dynamin 2 [16, 17].”
From Predominant expression of Alzheimer’s disease-associated BIN1 in mature oligodendrocytes and localization to white matter tracts (2016) · cites this paper as [16]
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Metadata
- Authors
- Nicot, A.-S., Toussaint, A., Tosch, V., Kretz, C., Wallgren-Pettersson, C., Iwarsson, E., Kingston, H., Garnier, J.-M., Biancalana, V., Oldfors, A., Mandel, J.-L., & Laporte, J.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Karolinska University Hospital (SE)
- Laboratoire de Génétique Médicale (FR)
- Sahlgrenska University Hospital (SE)
- Corresponding author
- Laporte, Jocelyn
- ORCID
- Venue
- Nature Genetics
- Published
- 2007-08-05
- Volume
- 39
- Issue
- 9
- Pages
- 1134-1139
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2053365501
- Cited by
- 434
- References
- 33
- Citations by year
- 2026: 9 · 2025: 17 · 2024: 22 · 2023: 19 · 2022: 39 · 2021: 19 · 2020: 26 · 2019: 20 · 2018: 26 · 2017: 21 · 2016: 21 · 2015: 20 · 2014: 28 · 2013: 26 · 2012: 27
- FWCI
- 8.73
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Keywords
- BIN1, dynamin 2, centronuclear myopathy, autosomal recessive inheritance, missense mutations, BAR domain, SH3 domain, protein-protein interaction, myotubular myopathy
- MeSH terms
- Amino Acid Sequence, Animals, Base Sequence, Binding Sites, Cell Line, Cell Nucleus, Chlorocebus aethiops, Female, Genes, Recessive, Haplotypes, Humans, Male, Molecular Sequence Data, Muscular Diseases, Mutation, Nerve Tissue Proteins, Protein Binding, Transfection, Sequence Homology, Amino Acid, Microscopy, Confocal, COS Cells, Polymorphism, Single Nucleotide, Dynamin II, Green Fluorescent Proteins, Mice
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