INCIDENCE OF JUNCTIONAL EPIDERMOLYSIS BULLOSA AMONG ROMANIAN DRAFT HORSES
Keywords:
Romanian Draft Horse, JEB, carrier, diagnosticationAbstract
Junctional Epidermolysis Bullosa (JEB) is an inherited disease which causes skin
lesions in newborn foals and results in large areas of skin loss. The mutation
responsible for the disease is a cytosine insertion in the LAMC2 gene, which results
in absent expression of the laminin γ2 polypeptide chain of laminin 5. JEB is
inherited as an autosomal recessive trait (Spirito et al. 2002, Milenkovic et al.
2003). Our objective was to analyze Romanian Draft Horses using a set of primers
which amplify a fragment from the LAMC2 gene possibly containing the insertion
for correctly identifying the normal homozygous and heterozygous carrier horses for
the JEB trait. The number of allele peaks depends on whether the horse tested is a
heterozygote (carrier) or homozygote (normal or JEB affected). Results suggest that
the genetic test will be useful in identifying horses which are heterozygous for the
JEB trait and foals with JEB.
References
Aumailley M., N., Smyth (1998) - The role of laminins in basement
membrane function. J. Anat. 193, 1-21.
Brenneman K.A., T., Olivry, D.C., Dorman (2000) - Rudimentary
hemidesmosome formation in congenital generalized junctional epidermolysis
bullosa in the Sprague-Dawley rat. Vet. Pathol. 37, 4336-4339.
Bruckner-Tuderman L., F., Guscetti, F., Ehrensperger (1991) - Animal
model for dermolytic mechanobullous disease: sheep with recessive dystrophic
epidermolysis bullosa lack collagen VII. Journal of Invest. Dermatol. 96, 452-458.
Spirito F., A., Charlesworth, K., Linder (2002) - Animal models for skin
blistering conditions: absence of laminin 5 causes hereditary junctional
mechanobullous disease in the Belgian horse. J. Invest Dermatol. 119, 684-691.
Milenkovic D., S., Chaffaux, S., Taourit, G., Guérin (2003) - A mutation in
the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in
two French draft horse breeds. Genet. Sel. Evol. 35, 249-256.
Goureau J.M., C., Feillou, M., Morand, J.F., Courreau, A.M., Dupere,
A., Alliot (1989) - Épidermolyse bulleuse jonctionelle léthale chez le cheval de
trait en France. Bull. Acad. Vét. Fr. 62, 345-353.
Olivry T., S.M., Dunston, M.P., Marinkovich (1999) - Reduced anchoring
fibril formation and collagen VII immunoreactivity in feline dystrophic
epidermolysis bullosa. Vet. Pathol. 36, 616-618.
Palazzi X., T., Marchal, L., Chabanne, A., Spadafora, J.P., Magnol, G.,
Memeguzzi (2000) - Inherited dystrophic epidermolysis bullosa in inbred dogs-A
spontaneous animal model for somatic gene therapy. J. I.. Dermatol. 115, 135-137.
Pulkkinen L., J., Uitto (1999) - Mutation analysis and molecular genetics of
epidermolysis bullosa. Matrix Biol. 18, 29-42.
