OMIA 001458-9823 : Hypotrichosis, juvenile with age-dependent emphysema in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 130700

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Co-Dominant

Considered a defect: yes

Key variant known: no

Species-specific name: Juvenile hairlessness and age-dependent emphysema

Mapping: Similarity of the phenotype with an integrin beta 6 knock-out mouse disorder led Bruun et al. (2009) to show (via linkage mapping with just 4 microsatellites in the comparative candidate region, namely on SSC15) that this disorder in pigs maps to the location of this gene (ITGB6) in pigs. Physical mapping (via the the IMpRH radiation hybrid panel) of the porcine ITGB6 gene to this same region confirmed the location of the disorder. However, no lesion in the porcine version of this gene nor in the gene for the other subunit of integrin beta 6 (ITGAV) have yet been found.

Clinical features: "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" (Bruun et al., 2009). Bruun et al. (2013) presented substantial evidence confirming that this mutant line of pigs is a very good model for human emphysema.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2013 Bruun, C.S., Jensen, L.K., Leifsson, P.S., Nielsen, J., Cirera, S., Jørgensen, C.B., Jensen, H.E., Fredholm, M. :
Functional Characterization of a Porcine Emphysema Model. Lung :, 2013. Pubmed reference: 24043489. DOI: 10.1007/s00408-013-9504-2.
2008 Bruun, C.S., Jørgensen, C.B., Bay, L., Cirera, S., Jensen, H.E., Leifsson, P.S., Nielsen, J., Christensen, K., Fredholm, M. :
Phenotypic and genetic characterization of a novel phenotype in pigs characterized by juvenile hairlessness and age dependent emphysema. BMC Genomics 9:283, 2008. Pubmed reference: 18549483. DOI: 10.1186/1471-2164-9-283.

Edit History


  • Created by Frank Nicholas on 09 Sep 2008
  • Changed by Frank Nicholas on 03 Oct 2011
  • Changed by Frank Nicholas on 20 Sep 2013