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A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds

Genetics Selection Evolution volume 35, Article number: 249 (2003) Cite this article

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.

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Authors and Affiliations

  1. 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

    Dragan Milenkovic, Stéphane Chaffaux, Sead Taourit & Gérard Guérin

Authors
  1. Dragan Milenkovic
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  2. Stéphane Chaffaux
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  3. Sead Taourit
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  4. Gérard Guérin
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Corresponding author

Correspondence to Gérard Guérin.

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Milenkovic, D., Chaffaux, S., Taourit, S. et al. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Genet Sel Evol 35, 249 (2003). https://doi.org/10.1186/1297-9686-35-2-249

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  • DOI: https://doi.org/10.1186/1297-9686-35-2-249

Keywords

Genetics Selection Evolution

ISSN: 1297-9686