ArticlePLoS genetics2015
Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.
- Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.Arthritis research & therapy · 2020Pooled it
- POGLUT2/3 mediated EGF O-glucosylation promotes separation of digits 2 and 3 by influencing fibrillin network reorganization, signaling, and cell dynamics.Developmental biology · 2025Article
- New insights into the structural role of EMILINs within the human skin microenvironment.Scientific reports · 2024Article
- Missense variants ofMolecular genetics and metabolism reports · 2024Article
- Tissue material properties, whole-bone morphology and mechanical behavior in theMatrix biology plus · 2024Article
- A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.Biochemical genetics · 2024Article
- Human MutatedInternational journal of molecular sciences · 2023Article
- Lack of evidence that fibrillin1 regulates bone morphogenetic protein 4 activity in kidney or lung.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Human mutation · 2022Review
- Article
- The jam session between muscle stem cells and the extracellular matrix in the tissue microenvironment.NPJ Regenerative medicine · 2022Review
- Sensitive asprosin detection in clinical samples reveals serum/saliva correlation and indicates cartilage as source for serum asprosin.Scientific reports · 2022Article
- Identification of NovelFrontiers in genetics · 2022Article
- VPS39-deficiency observed in type 2 diabetes impairs muscle stem cell differentiation via altered autophagy and epigenetics.Nature communications · 2021Article
- Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly.Molecular genetics & genomic medicine · 2021Article
- A new MMP-mediated prodomain cleavage mechanism to activate bone morphogenetic proteins from the extracellular matrix.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Bu-M-P-ing Iron: How BMP Signaling Regulates Muscle Growth and Regeneration.Journal of developmental biology · 2020Review
- Roles of Fibulin-2 in Carcinogenesis.Medical science monitor : international medical journal of experimental and clinical research · 2020Review
- A Novel Splicing Mutation in theFrontiers in genetics · 2020Article
- The "other" 15-40%: The Role of Non-Collagenous Extracellular Matrix Proteins and Minor Collagens in Tendon.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2020Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Fibrillins are large extracellular macromolecules that polymerize to form the backbone structure of connective tissue microfibrils. Mutations in the gene for fibrillin-1 cause the Marfan syndrome, while mutations in the gene for fibrillin-2 cause Congenital Contractural Arachnodactyly. Both are autosomal dominant disorders, and both disorders affect musculoskeletal tissues. Here we show that Fbn2 null mice (on a 129/Sv background) are born with reduced muscle mass, abnormal muscle histology, and signs of activated BMP signaling in skeletal muscle. A delay in Myosin Heavy Chain 8, a perinatal myosin, was found in Fbn2 null forelimb muscle tissue, consistent with the notion that muscle defects underlie forelimb contractures in these mice. In addition, white fat accumulated in the forelimbs during the early postnatal period. Adult Fbn2 null mice are already known to demonstrate persistent muscle weakness. Here we measured elevated creatine kinase levels in adult Fbn2 null mice, indicating ongoing cycles of muscle injury. On a C57Bl/6 background, Fbn2 null mice showed severe defects in musculature, leading to neonatal death from respiratory failure. These new findings demonstrate that loss of fibrillin-2 results in phenotypes similar to those found in congenital muscular dystrophies and that FBN2 should be considered as a candidate gene for recessive congenital muscular dystrophy. Both in vivo and in vitro evidence associated muscle abnormalities and accumulation of white fat in Fbn2 null mice with abnormally activated BMP signaling. Genetic rescue of reduced muscle mass and accumulation of white fat in Fbn2 null mice was accomplished by deleting a single allele of Bmp7. In contrast to other reports that activated BMP signaling leads to muscle hypertrophy, our findings demonstrate the exquisite sensitivity of BMP signaling to the fibrillin-2 extracellular environment during early postnatal muscle development. New evidence presented here suggests that fibrillin-2 can sequester BMP complexes in a latent state.
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Registered trials
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