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Related Concept Videos

Tight Junctions01:29

Tight Junctions

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...
Gap Junctions01:37

Gap Junctions

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...
Gap Junctions01:27

Gap Junctions

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...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

Genetic diseases of junctions.

Joey E Lai-Cheong1, Ken Arita, John A McGrath

  • 1King's College London, The Guy's, King's College and St Thomas' School of Medicine, Genetic Skin Disease Group, Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, London, UK.

The Journal of Investigative Dermatology
|November 17, 2007
PubMed
Summary

Mutations in genes encoding intercellular junction proteins cause inherited skin diseases. These genetic defects disrupt cell-cell contact, leading to abnormal skin barrier function and epidermal differentiation.

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Area of Science:

  • Cell Biology
  • Genetics
  • Dermatology

Background:

  • Intercellular junctions, including tight junctions, gap junctions, adherens junctions, and desmosomes, are crucial for epithelial cell biology.
  • Studies involving mutations, animal models, and in vitro experiments have illuminated their functions.

Purpose of the Study:

  • To review human gene mutations associated with inherited disorders of intercellular junctions.
  • To focus on the spectrum of inherited human diseases with abnormal skin phenotypes resulting from these mutations.

Main Methods:

  • Review of human gene mutations reported in genes encoding junctional proteins.
  • Analysis of associated clinical phenotypes, with a focus on skin manifestations.

Main Results:

  • Mutations identified in tight junction proteins (claudins, ZO-2), gap junction proteins (connexins), adherens junction protein (P-cadherin), and desmosome components (plakophilins, desmoplakin, plakoglobin, desmogleins, corneodesmosin).
  • These mutations are linked to novel phenotypes including abnormal skin barrier function, altered epidermal differentiation, and ectodermal appendage anomalies.
  • Extracutaneous pathologies are also associated with these junctional protein mutations.

Conclusions:

  • Human gene mutations in intercellular junction proteins provide insight into cell-cell contact and communication complexities.
  • These mutations underlie a spectrum of inherited human diseases, particularly those affecting the skin.
  • Understanding these genetic defects is key to diagnosing and potentially treating related skin disorders.