%0 Journal Article
%T Investigation of SNPs in the porcine desmoglein 1 gene
%A Lise Daugaard
%A Lars Andresen
%A Merete Fredholm
%J BMC Veterinary Research
%D 2007
%I BioMed Central
%R 10.1186/1746-6148-3-4
%X DNA from 32 affected and 32 unaffected piglets with exudative epidermitis were diagnosed clinically as affected or unaffected. Two regions of the desmoglein 1 gene were sequenced and genotypes of the SNPs were established. Seven SNPs (823T>C, 828A>G, 829A>G, 830A>T, 831A>T, 838A>C and 1139C>T) were found in the analysed sequences and the allele frequencies were determined for the SNPs resulting in amino acid change. Four of the seven polymorphisms were situated in the motif known to be important for toxin cleavage. The distribution of the genotypes between affected and unaffected animals was analysed.The study indicated a possible correlation between the genotypes of two out of seven SNPs found in the porcine desmoglein 1 gene and the susceptibility to exudative epidermitis.Desmoglein 1 is one of the adhesive proteins in the desmosomal complex that forms one of the intercellular junctions found in epithelial tissues [1]. Desmogleins are calcium-dependent transmembrane glycoproteins and members of the cadherin superfamily [2]. Desmoglein 1 is the target protein in the skin disease exudative epidermitis (EE), which is a disease in pigs caused by virulent strains of Staphylococcus hyicus. Exfoliative toxins from S. hyicus (Exhs) digest porcine desmoglein 1 in the extracellular part, which is responsible for the cell-cell adherence. The digestion of desmoglein 1 causes exfoliation of the skin, which is a characteristic symptom of the disease [3]. Different types of toxins from S. hyicus have been identified. ExhA, ExhB, ExhC and ExhD have been identified in Denmark and can be distinguished by PCR [4]. Another related exfoliative toxin SHETB has been identified in Japan [4,5].Human desmoglein 1 ((HUMAN)DSG1) is known to be the target for the exfoliative toxins (ETs) from S. aureus involved in the disease staphylococcal scalded skin syndrome (SSSS) [6]. In figure 1 the schematic form of the domain structure and a modelling of the 3D structure for the porcine desmoglein 1
%U http://www.biomedcentral.com/1746-6148/3/4