Figure 5From: Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa Schematic representation of the components of the hemidesmosomes and of the ITGB4 protein. (A) Schematic representation of the components of the hemidesmosomes (adapted from http://xtal.cicancer.org/research.html). (B) Comparison between the structure of the mutant (predicted) and wild-type integrin β4 subunit (http://www.uniprot.org/uniprot/P16144). The wild-type integrin β4 comprises: (i) an extracellular region that contains the N-terminal plexin-semaphorin-integrin (PSI) and von Willebrand factor type A (VWFA) domains as well as a cysteine-rich repeat region; (ii) a transmembrane domain and (iii) a cytoplasmic region that includes a calx-beta (calx- β) domain and four fibronectin III-like domains (FnIII-1 to 4). The transmembrane domain and cytoplasmic region are predicted to be totally absent in the mutated β4 subunit.Back to article page