Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse.
Abstract: Laminin 5 is a heterotrimeric basement membrane protein integral to the structure and function of the dermal-epidermal junction. It consists of three glycoprotein subunits: the alpha3, beta3 and gamma2 chains, which are encoded by the LAMA3, LAMB3 and LAMC2 genes respectively. A mutation in any of these genes results in the condition known as hereditary junctional epidermolysis bullosa (JEB). A 6589-bp deletion spanning exons 24-27 was found in the LAMA3 gene in American Saddlebred foals born with the skin-blistering condition epitheliogenesis imperfecta. The deletion confirms that this autosomal recessive condition in the American Saddlebred Horse can indeed be classified as JEB and corresponds to Herlitz JEB in humans. A diagnostic test was developed and nine of 175 randomly selected American Saddlebred foals from the 2007 foal crop were found to be carriers of the mutation (frequency of 0.026).
Publication Date: 2008-11-11 PubMed ID: 19016681DOI: 10.1111/j.1365-2052.2008.01795.xGoogle Scholar: Lookup
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- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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This research study reveals that a partial deletion in the LAMA3 gene causes the hereditary skin-blistering condition junctional epidermolysis bullosa (JEB) in the American Saddlebred Horse, a finding which led to the development of a diagnostic test identifying carriers of the mutation.
Understanding Laminin 5 and Its Role
- Laminin 5 is a heterotrimeric basement membrane protein that plays a crucial role in the structure and functionality of the dermal-epidermal junction.
- This protein is composed of three glycoprotein subunits: alpha3, beta3, and gamma2. These subunits are produced by the LAMA3, LAMB3, and LAMC2 genes, respectively.
- A mutation in any of these genes can result in a medical condition known as hereditary junctional epidermolysis bullosa (JEB).
Identification of Genetic Mutation in Horses
- The study discovered a 6589-bp deletion across exons 24-27 in the LAMA3 gene in American Saddlebred foals born with the skin-blistering condition known as epitheliogenesis imperfecta.
- This deletion solidifies that this autosomal recessive condition in the American Saddlebred Horse is indeed JEB, aligning it with the Herlitz variant of the condition found in humans.
Development of Diagnostic Test
- Researchers developed a diagnostic test to detect the presence of this mutation.
- In a sample of 175 randomly chosen American Saddlebred foals from the 2007 foal crop, the test determined that nine were carriers of this genetic mutation. This gives a frequency of 0.026, indicating that this mutation is present, but not abundant, in the population.
Cite This Article
APA
Graves KT, Henney PJ, Ennis RB.
(2008).
Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse.
Anim Genet, 40(1), 35-41.
https://doi.org/10.1111/j.1365-2052.2008.01795.x Publication
Researcher Affiliations
- Department of Veterinary Science, University of Kentucky, Lexington, KY 40546, USA. ktgraves@uky.edu
MeSH Terms
- Animals
- Epidermolysis Bullosa, Junctional / genetics
- Epidermolysis Bullosa, Junctional / veterinary
- Exons
- Gene Deletion
- Horse Diseases / genetics
- Horses
- Laminin / genetics
Citations
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