ArticleHuman molecular genetics2013
MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 61 citations in OpenAlex.
- Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.The Journal of clinical investigation · 2016Trial
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- Relationships Between Expressions and Variants of the Myosin-Binding Protein C1 Gene and Fatty Acid Composition in Longissimus Thoracis Muscle of Grazing Sonid Sheep.Food science & nutrition · 2025Article
- Functional role of myosin-binding protein H in thick filaments of developing vertebrate fast-twitch skeletal muscle.The Journal of general physiology · 2024Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- Expanding the Spectrum of Congenital Myopathy Linked to Variants in theNeurology. Clinical practice · 2024Article
- Functional role of myosin-binding protein H in thick filaments of developing vertebrate fast-twitch skeletal muscle.bioRxiv : the preprint server for biology · 2024Article
- Unlocking the Role of sMyBP-C: A Key Player in Skeletal Muscle Development and Growth.bioRxiv : the preprint server for biology · 2023Article
- Variants inHGG advances · 2023Article
- Transcriptomic Analysis Reveals mRNA and Alternative Splicing Events in Ovine Skeletal Muscle Satellite Cells during Proliferation and Differentiation.Animals : an open access journal from MDPI · 2023Article
- Variants inmedRxiv : the preprint server for health sciences · 2023Article
- Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs.Experimental & molecular medicine · 2023Review
- Zika virus disrupts gene expression in human myoblasts and myotubes: Relationship with susceptibility to infection.PLoS neglected tropical diseases · 2022Article
- Identification of Driver Genes and Interaction Networks Related to Brain Metastasis in Breast Cancer Patients.Disease markers · 2022Article
- A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.Genes · 2021Article
- Review
- Distinctive gene expression patterns and imprinting signatures revealed in reciprocal crosses between cattle sub-species.BMC genomics · 2021Article
- Imaging ATP Consumption in Resting Skeletal Muscle: One Molecule at a Time.Biophysical journal · 2020Article
- Zebrafish models of sarcopenia.Disease models & mechanisms · 2020Review
- HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure.Cardiovascular research · 2020Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Myosin-binding protein C1 (MYBPC1) is an abundant skeletal muscle protein that is expressed predominantly in slow-twitch muscle fibers. Human MYBPC1 mutations are associated with distal arthrogryposis type 1 and lethal congenital contracture syndrome type 4. As MYBPC1 function is incompletely understood, the mechanism by which human mutations result in contractures is unknown. Here, we demonstrate using antisense morpholino knockdown, that mybpc1 is required for embryonic motor activity and survival in a zebrafish model of arthrogryposis. Mybpc1 morphant embryos have severe body curvature, cardiac edema, impaired motor excitation and are delayed in hatching. Myofibril organization is selectively impaired in slow skeletal muscle and sarcomere numbers are greatly reduced in mybpc1 knockdown embryos, although electron microscopy reveals normal sarcomere structure. To evaluate the effects of human distal arthrogryposis mutations, mybpc1 mRNAs containing the corresponding human W236R and Y856H MYBPC1 mutations were injected into embryos. Dominant-negative effects of these mutations were suggested by the resultant mild bent body curvature, decreased motor activity, as well as impaired overall survival compared with overexpression of wild-type RNA. These results demonstrate a critical role for mybpc1 in slow skeletal muscle development and establish zebrafish as a tractable model of human distal arthrogryposis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.