title: 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.
authors.affiliation: 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.
authors.forename: Dragan
authors.initials: D
authors.lastname: Milenkovic
authors.forename: Stéphane
authors.initials: S
authors.lastname: Chaffaux
authors.forename: Sead
authors.initials: S
authors.lastname: Taourit
authors.forename: Gérard
authors.initials: G
authors.lastname: Guérin
mesh_terms: D000818:Animals; D017931:DNA Primers / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics / Q000662:veterinary*; D006734:Horse Diseases / Q000235:genetics*; D006736:Horses; D007797:Laminin / Q000235:genetics*; D016013:Likelihood Functions; D015810:Linkage Disequilibrium; D009154:Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D007797:Laminin