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

Genetics Selection Evolution

Gérard Guérin¹  Sead Taourit¹  Stéphane Chaffaux¹  Dragan Milenkovic¹ 

[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

关键词: laminin 5;    epidermolysis bullosa;    LAMC2;    horse;   

Others  :  1094448
DOI  :  10.1186/1297-9686-35-2-249

 received in 2002-08-02, accepted in 2002-09-05,  发布年份 2003

【 摘 要 】

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.

【 授权许可】

   
2003 INRA, EDP Sciences