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Background  A pig phenotype characterized by juvenile hairlessness, thin skin and age dependent lung emphysema has been discovered in a Danish pig herd. The trait shows autosomal co-dominant inheritance with all three genotypes distinguishable. Since the phenotype shows resemblance to the integrin β 6  -/- knockout phenotype seen in mice, the two genes encoding the two subunits of integrin α v β 6 , i.e.  ITGB6  and  ITGAV , were considered candidate genes for this trait.    Results  The mutated pig phenotype is characterized by hairlessness until puberty, thin skin with few hair follicles and absence of  musculi arrectores pili , and at puberty or later localized areas of emphysema are seen in the lungs. Comparative mapping predicted that the porcine  ITGB6  and ITGAV  orthologs map to SSC15. In an experimental family (n = 113), showing segregation of the trait, the candidate region was confirmed by linkage analysis with four microsatellite markers. Mapping of the porcine  ITGB6  and  ITGAV  in the IMpRH radiation hybrid panel confirmed the comparative mapping information. Sequencing of the  ITGB6  and  ITGAV  coding sequences from affected and normal pigs revealed no evidence of a causative mutation, but alternative splicing of the  ITGB6  pre-mRNA was detected. For both  ITGB6  and  ITGAV  quantitative PCR revealed no significant difference in the expression levels in normal and affected animals. In a western blot, ITGB6 was detected in lung protein samples of all three genotypes. This result was supported by flow cytometric analyses which showed comparable reactions of kidney cells from affected and normal pigs with an integrin α v β 6  monoclonal antibody. Also, immunohistochemical staining of lung tissue with an integrin β 6  antibody showed immunoreaction in both normal and affected pigs.    Conclusion  A phenotype resembling the integrin β 6  -/- knockout phenotype seen in mice has been characterized in the pig. The candidate region on SSC15 has been confirmed by linkage analysis but molecular and functional analyses have excluded that the mutated phenotype is caused by structural mutations in or ablation of any of the two candidate genes.

Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema