Journal
NATURE COMMUNICATIONS
Volume 4, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms2952
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Funding
- NINDS [RO1NS54731]
- NSF [0725976]
- NIAMS [1K08AR054835, RO1HL048093]
- Taubman Medical Institute
- Muscular Dystrophy Association [MDA186447]
- Long-Term Fellowship
- Career Development Award from the Human Frontier Science Program
- Center for Organogenesis Training Grant [NIH T32-HD007505]
- Cell and Molecular Biology Training Grant [NIH T32-GM-07315]
- Rackham Merit Fellowship from the University of Michigan
- Direct For Biological Sciences [0725976] Funding Source: National Science Foundation
- Division Of Integrative Organismal Systems [0725976] Funding Source: National Science Foundation
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Excitation-contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane voltage by activating release of Ca2+ from internal stores to initiate muscle contraction. Defects in excitation-contraction coupling are associated with muscle diseases. Here we identify Stac3 as a novel component of the excitation-contraction coupling machinery. Using a zebrafish genetic screen, we generate a locomotor mutation that is mapped to stac3. We provide electrophysiological, Ca2+ imaging, immunocytochemical and biochemical evidence that Stac3 participates in excitation-contraction coupling in muscles. Furthermore, we reveal that a mutation in human STAC3 is the genetic basis of the debilitating Native American myopathy (NAM). Analysis of NAM stac3 in zebrafish shows that the NAM mutation decreases excitation-contraction coupling. These findings enhance our understanding of both excitation-contraction coupling and the pathology of myopathies.
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