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Related Concept Videos

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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G-Protein Gated Ion Channels01:21

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GPCRs are primarily responsible for our sense of smell, taste, and vision.  The binding of a sensory stimulus activates GPCR to stimulate effector proteins, many of which are ion channels in the sensory organs. GPCRs modulate the opening and closing of the target ion channels either directly by binding them, or by releasing second messengers that activate these channels. As ions move across the membrane, the membrane potential is altered, which induces an appropriate response.
Sensory...
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Intracellular Signaling Affects Focal Adhesions01:17

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Integrins act both as extracellular input receivers and as intracellular processing activators. As their name suggests, integrins are entirely integrated into the membrane structure. Their hydrophobic membrane-spanning regions interact with the phospholipid bilayer's hydrophobic region. These membrane receptors provide extracellular attachment sites for effectors like hormones and growth factors. They activate intracellular response cascades when their effectors are bound and active.
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Contact-dependent Signaling01:19

Contact-dependent Signaling

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Contact-dependent signaling, as the name suggests, requires that communicating cells be in direct contact with each other. This is achieved either through receptor-ligand interactions or by specialized cytoplasmic channels that allow the flow of small molecules between cells. In animal cells, channels called gap junctions facilitate contact-dependent signaling in certain tissues, whereas, plasmodesmata perform a similar function in plants.
Gap Junctions
In animal cells, gap junctions are formed...
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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
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Tight Junctions01:29

Tight Junctions

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Tight junctions are molecular seals between cells that prevent the leaking of fluids, ions, and other small solutes across cavities and compartments in multicellular organisms. They are mainly composed of claudin and occludin transmembrane proteins, and other proteins such as tricellulin and JAM (junctional adhesion molecule). All these proteins are 4-pass transmembrane proteins, except JAM, which is a single-pass transmembrane protein belonging to the immunoglobulin superfamily. The...
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Related Experiment Video

Updated: Jun 2, 2025

Mechanical Stimulation-induced Calcium Wave Propagation in Cell Monolayers: The Example of Bovine Corneal Endothelial Cells
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Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel

Sergiu A Lucaciu1,2, Stephanie E Leighton2, Robert S Wong1

  • 1Department of Physiology and Pharmacology, University of Western Ontario, London, ON, Canada.

The Journal of Physiology
|January 16, 2025
PubMed
Summary

Seven Cx30.3 gene variants linked to erythrokeratodermia variabilis et progressiva (EKVP) alter protein stability, cell viability, and channel function. These molecular changes may contribute to EKVP pathogenesis.

Keywords:
cell deathconnexinconnexin 30.3 (Cx30.3)epidermisgap junctional intercellular communicationhemichannelskeratinocyte

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Area of Science:

  • Cell Biology
  • Genetics
  • Dermatology

Background:

  • Erythrokeratodermia variabilis et progressiva (EKVP) is a rare skin disorder.
  • Connexin 30.3 (Cx30.3) gene variants are clinically associated with EKVP.
  • Understanding the molecular impact of these variants is crucial for EKVP research.

Purpose of the Study:

  • To characterize seven EKVP-associated Cx30.3 gene variants.
  • To investigate the functional consequences of these variants in rat epidermal keratinocytes (REKs).
  • To determine how variants affect Cx30.3 trafficking, turnover, cell viability, and gap junction function.

Main Methods:

  • Expression of wildtype (WT) Cx30.3 and seven variants (R22H, S26Y, P61R, C86S, E99K, T130M, M190L) in REKs.
  • Analysis of protein trafficking, gap junction formation, and turnover rates.
  • Assessment of cell viability and membrane permeability using fluorescent dyes.
  • Dual patch clamp studies in connexin-null AD-293 cells to evaluate gap junction channel function.

Main Results:

  • All Cx30.3 variants trafficked and formed gap junctions similarly to WT Cx30.3.
  • The R22H and P61R variants exhibited more rapid turnover than WT Cx30.3.
  • The P61R variant reduced REK viability and increased cell permeability.
  • Variants C86S, S26Y, and T130M showed reduced or absent gap junction function.
  • Other variants displayed enhanced voltage-dependent gating, with some having lower open probability at high voltages.

Conclusions:

  • Each EKVP-associated Cx30.3 variant alters Cx30.3 characteristics, including protein stability, cell viability, and/or channel function.
  • The observed molecular changes, such as altered turnover, reduced viability, and modified channel gating, may contribute to EKVP.
  • Further genetic analysis in familial EKVP patients is needed to confirm the causal role of these variants.