Issue |
Genet. Sel. Evol.
Volume 35, Number 2, March-April 2003
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Page(s) | 249 - 256 | |
DOI | https://doi.org/10.1051/gse:2003007 |
DOI: 10.1051/gse:2003007
A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds
Dragan Milenkovic, Stéphane Chaffaux, Sead Taourit and Gérard GuérinLaboratoire 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
(Received 2 August 2002; accepted 5 September 2002)
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.
Key words: horse / LAMC2 / epidermolysis bullosa / laminin 5
Correspondence and reprints: Gérard Guérin
e-mail: guerin@jouy.inra.fr
© INRA, EDP Sciences 2003