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A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds.
Abstract: Epidermolysis bullosa (EB) is a heterogeneous group of inherited diseases characterised by skin blistering and fragility. In humans, one of the most severe forms of EB known as Herlitz-junctional EB (H-JEB), is caused by mutations in the laminin 5 genes. EB has been described in several species, like cattle, sheep, dogs, cats and horses where the mutation, a cytosine insertion in exon 10 of the LAMC2 gene, was very recently identified in Belgian horses as the mutation responsible for JEB. In this study, the same mutation was found to be totally associated with the JEB phenotype in two French draft horse breeds, Trait Breton and Trait Comtois. This result provides breeders a molecular test to better manage their breeding strategies by genetic counselling.
Publication Date: 2003-03-14 PubMed ID: 12633536PubMed Central: PMC2732698DOI: 10.1186/1297-9686-35-2-249Google Scholar: Lookup The Equine Research Bank provides access to a large database of publicly available scientific literature. Inclusion in the Research Bank does not imply endorsement of study methods or findings by Mad Barn.
- Journal Article
- Research Support
- Non-U.S. Gov't
Summary
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This research paper identifies a specific genetic mutation in the LAMC2 gene that leads to a severe skin condition, called Herlitz junctional epidermolysis bullosa (H-JEB), in two breeds of French draft horses. The breakthrough facilitates the development of a molecular test that can guide breeding strategies and greatly reduce the incidence of H-JEB in horses.
Herlitz junctional epidermolysis bullosa (H-JEB)
- This is a severe skin condition characterized by skin blistering and fragility. The skin becomes very sensitive, easily damaged, and slow to heal, leading to pain, discomfort, and increased risk of infections.
- The condition is one of the most severe forms of epidermolysis bullosa (EB), a group of inherited diseases. It has been observed in several species, including cattle, sheep, dogs, cats, and horses.
Mutation in the LAMC2 Gene
- The researchers identified a specific mutation in the LAMC2 gene as the cause of H-JEB. The mutation is a cytosine insertion in exon 10 of the gene.
- The mutation was previously identified in Belgian horses. In this study, the same mutation was found in two French draft horse breeds: Trait Breton and Trait Comtois.
Impact on Breeding Strategies
- The discovery of the genetic mutation responsible for H-JEB has significant implications for horse breeding strategies.
- With a molecular test, breeders can now identify carriers of the mutation and make informed decisions about their breeding programs. For example, they can avoid pairing two carrier horses, which would have a 25% chance of producing a foal with H-JEB.
- This molecular test will therefore help to reduce the incidence of H-JEB in these horse breeds, improving their quality of life and potentially increasing their lifespan.
Cite This Article
APA
Milenkovic D, Chaffaux S, Taourit S, Guérin G.
(2003).
A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds.
Genet Sel Evol, 35(2), 249-256.
https://doi.org/10.1186/1297-9686-35-2-249 Publication
Researcher Affiliations
- Laboratoire de génétique biochimique et de cytogénétique, Département de génétique animale, Institut national de la recherche agronomique, Centre de recherches de Jouy, 78352 Jouy-en-Josas Cedex, France.
MeSH Terms
- Animals
- DNA Primers / genetics
- Epidermolysis Bullosa, Junctional / genetics
- Epidermolysis Bullosa, Junctional / veterinary
- Horse Diseases / genetics
- Horses
- Laminin / genetics
- Likelihood Functions
- Linkage Disequilibrium
- Mutation / genetics
- Sequence Analysis, DNA
Citations
This article has been cited 10 times.- Chen K, Yong J, Zauner R, Wally V, Whitelock J, Sajinovic M, Kopecki Z, Liang K, Scott KF, Mellick AS. Chondroitin Sulfate Proteoglycan 4 as a Marker for Aggressive Squamous Cell Carcinoma. Cancers (Basel) 2022 Nov 13;14(22).
- Widhiati S, Danarti R, Trisnowati N, Purnomosari D, Wibawa T, Soebono H. Novel mutations of epidermolysis bullosa identified using whole-exome sequencing in Indonesian Javanese patients. Intractable Rare Dis Res 2021 May;10(2):88-94.
- Jacinto JGP, Häfliger IM, Veiga IMB, Drögemüller C, Agerholm JS. A de novo mutation in KRT5 in a crossbred calf with epidermolysis bullosa simplex. J Vet Intern Med 2020 Nov;34(6):2800-2807.
- Kiener S, Laprais A, Mauldin EA, Jagannathan V, Olivry T, Leeb T. LAMB3 Missense Variant in Australian Shepherd Dogs with Junctional Epidermolysis Bullosa. Genes (Basel) 2020 Sep 7;11(9).
- Suárez-Vega A, Gutiérrez-Gil B, Benavides J, Perez V, Tosser-Klopp G, Klopp C, Keennel SJ, Arranz JJ. Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep. PLoS One 2015;10(5):e0126416.
- Cappelli K, Brachelente C, Passamonti F, Flati A, Silvestrelli M, Capomaccio S. First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. BMC Vet Res 2015 Mar 10;11:55.
- Murgiano L, Wiedemar N, Jagannathan V, Isling LK, Drögemüller C, Agerholm JS. Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene. BMC Vet Res 2015 Feb 7;11:23.
- Mömke S, Kerkmann A, Wöhlke A, Ostmeier M, Hewicker-Trautwein M, Ganter M, Kijas J, Distl O. A frameshift mutation within LAMC2 is responsible for Herlitz type junctional epidermolysis bullosa (HJEB) in black headed mutton sheep. PLoS One 2011 May 4;6(5):e18943.
- Brosnahan MM, Brooks SA, Antczak DF. Equine clinical genomics: A clinician's primer. Equine Vet J 2010 Oct;42(7):658-70.
- Chowdhary BP, Raudsepp T. The horse genome derby: racing from map to whole genome sequence. Chromosome Res 2008;16(1):109-27.
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