Abstract
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 ?2 polypeptide chain of laminin 5. JEB is inherited as an autosomal recessive trait (Spirito et al. 2002, Milenkovic et al. 2003, Spirito et al. 2002). Our objective was to develop an easy and efficient method for correctly identifying the normal homozygous and heterozygous carrier horses for the JEB trait. We analyzed a population of Romanian Draft Horses using a set of primers which amplify a fragment from the LAMC2 gene possibly containing the insertion. 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.
Highlights
Introduction and Literature ReviewEpidermolysis Bullosa (EB) is a heterogeneous group of mechanobullous disorders characterized by fragility of the skin and the mucous membranes
Results suggest that the genetic test will be useful in identifying horses which are heterozygous for the Junctional Epidermolysis Bullosa (JEB) trait and foals with JEB
The identification of the causal mutation of JEB is of great importance to draft horse breeders
Summary
Epidermolysis Bullosa (EB) is a heterogeneous group of mechanobullous disorders characterized by fragility of the skin and the mucous membranes. The junctional form of EB, JEB, is characterized by blister formation within the lamina lucida of the basement membrane zone and by an autosomal recessive pattern of inheritance. In the severe Herlitz variant, H-JEB, tissue cleavage results from the mutations in one of the three genes (LAMA3, LAMB3 or LAMC2) (Aumailley et al 1998, Korge et al 1996, Pulkkinen et al 1999). These are encoding the three subunits (a3, b3 and g2) of the extracellular adhesion ligand laminin 5 associated with the hemidesmosome-anchoring. Cases of EB have been described in different species, such as sheep (Bruckner-Tuderman et al 1991), dogs (Palazzi et al 2000), cats (Olivry et al 1999), mice (Colognato et al 1999), and rats (Brenneman et al 2000)
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