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Related Concept Videos

Gap Junctions01:27

Gap Junctions

10.5K
The cytoplasm of adjacent animal cells can exchange small molecules, ions, and secondary messengers via the communication channels which form the gap junctions. These junctions comprise a few hundred to thousands of molecular channels, each made of two halves, called the connexon hemichannel. A connexon is a hexamer of six transmembrane connexin proteins, which assemble radially, thus forming a pore or channel in the center. One connexon hemichannel docks with a corresponding connexon on the...
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Gap Junctions01:37

Gap Junctions

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Multicellular organisms employ a variety of ways for cells to communicate with each other. Gap junctions are specialized proteins that form pores between neighboring cells in animals, connecting the cytoplasm between the two, and allowing for the exchange of molecules and ions. They are found in a wide range of invertebrate and vertebrate species, mediate numerous functions including cell differentiation and development, and are associated with numerous human diseases, including cardiac and...
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Exon Recombination02:32

Exon Recombination

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The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
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Notch Signaling Pathway03:14

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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
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Notch Signaling Pathway03:14

Notch Signaling Pathway

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Adherens Junctions01:24

Adherens Junctions

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Strong contact points between adjacent cells anchor them to each other, forming tissues. Such anchoring junctions are of two types –  adherens junctions and desmosomes. Adherens junctions are abundant in tissues such as  epithelium and endothelium, forming a continuous zone of adhesion called the adhesion belt. In other tissues, such as  heart muscle, they appear as clusters, linking the cells to produce coordinated heart muscle contraction.
Adherens Junctions are Dynamic
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Related Experiment Video

Updated: Mar 22, 2026

Osmotic Avoidance in Caenorhabditis elegans: Synaptic Function of Two Genes, Orthologues of Human NRXN1 and NLGN1, as Candidates for Autism
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The exon junction complex in neural development and neurodevelopmental disease.

J J McMahon1, E E Miller1, D L Silver2

  • 1Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, United States.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience
|April 14, 2016
PubMed
Summary

The exon junction complex (EJC) is vital for nervous system development. Proper EJC dosage is essential for brain development, neuronal function, and preventing neurodevelopmental disorders.

Keywords:
Axon guidanceDosageExon junction complexMicrocephalyNeocortexNeurogenesis

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Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Post-transcriptional mRNA metabolism regulates nervous system development and function.
  • The exon junction complex (EJC), an RNA-binding complex, is a key regulator of mRNA processing.
  • EJC's role in neurodevelopment is an emerging area of research.

Purpose of the Study:

  • To investigate the in vivo relevance of EJC components in mammalian brain development.
  • To explore the connection between EJC function and neurodevelopmental disorders.

Main Methods:

  • Utilized new genetic models in mammals.
  • Employed cellular assays to examine EJC component function.
  • Reviewed human genetics studies linking EJC to neurodevelopmental disorders.

Main Results:

  • Core and peripheral EJC components are crucial for brain development, stem cell function, neuronal outgrowth, and activity.
  • Human genetic studies increasingly implicate EJC components in neurodevelopmental disorders.
  • Proper EJC component dosage is necessary for neuronal development and function.

Conclusions:

  • The exon junction complex plays critical roles in diverse aspects of neuronal development and function.
  • Genetic models of EJC components are valuable tools for studying neurodevelopmental diseases.