Open Access

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

  • Dragan Milenkovic1,
  • Stéphane Chaffaux1,
  • Sead Taourit1 and
  • Gérard Guérin1Email author
Genetics Selection Evolution200335:249

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

Received: 2 August 2002

Accepted: 5 September 2002

Published: 15 March 2003

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.

Keywords

horse LAMC2 epidermolysis bullosa laminin 5

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Authors’ Affiliations

(1)
Laboratoire de génétique biochimique et de cytogénétique, Département de génétique animale, Institut national de la recherche agronomique, Centre de recherches de Jouy

Copyright

© INRA, EDP Sciences 2003

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