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Related Concept Videos

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Cytoskeletal Linker Proteins - Plakins

Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...
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Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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In humans, the five forms of alpha chains are LAMA 1, LAMA 2, LAMA 3, LAMA 4, and LAMA 5. The four forms of beta chains are LAMB 1, LAMB 2, LAMB 3, and LAMB 4. The three forms of gamma...
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Related Experiment Video

Updated: Jul 14, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

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Published on: December 18, 2019

Filamin B mutations cause chondrocyte defects in skeletal development.

Jie Lu1, Gewei Lian, Robert Lenkinski

  • 1Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA.

Human Molecular Genetics
|May 19, 2007
PubMed
Summary

Filamin B (FLNB) deficiency in mice causes skeletal defects mirroring human disorders. Disruption of the extracellular matrix-beta1-integrin-FLNB pathway impairs bone development.

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Area of Science:

  • Skeletal Biology
  • Molecular Cell Biology
  • Developmental Biology

Background:

  • Filamin B (FLNB) is crucial for cytoskeletal organization and intracellular signaling in skeletal development.
  • Mutations in FLNB cause severe human skeletal dysplasias, including spondylocarpotarsal (SCT) syndrome.
  • FLNB links the cell membrane to the cytoskeleton and influences signaling pathways.

Purpose of the Study:

  • To investigate the role of Filamin B (FLNB) in skeletal development using a mouse model.
  • To elucidate the molecular mechanisms underlying FLNB-associated skeletal disorders.
  • To explore the relationship between FLNB, beta1-integrin, and the extracellular matrix in bone formation.

Main Methods:

  • Generation and characterization of Flnb-deficient mice.
  • Histological analysis of skeletal tissues, including bone and cartilage.
  • Assessment of chondrocyte proliferation, differentiation, and apoptosis.
  • Analysis of extracellular matrix composition and beta1-integrin expression.
  • Cell adhesion assays in Flnb-deficient chondrocytes.

Main Results:

  • Flnb-deficient mice exhibit shortened limbs, vertebral fusions, spinal curvature, and craniofacial abnormalities, mimicking human phenotypes.
  • Increased apoptosis and impaired chondrocyte differentiation were observed in mutant growth plates.
  • Disrupted extracellular matrix and diminished phosphorylated beta1-integrin expression were noted.
  • Flnb deficiency led to decreased cell adhesion to the extracellular matrix.

Conclusions:

  • FLNB is essential for normal vertebral and distal limb development.
  • The ECM-beta1-integrin-FLNB pathway is critical for skeletal integrity.
  • Disruption of this pathway contributes to skeletal defects seen in human FLNB mutations, such as SCT syndrome.