Fig. 5.

 A missense variant in the desmoplakin (DSP) gene is associated with a syndromic form of congenital ichthyosis in Scottish Highland cattle. Schematic diagram of the DSP gene showing the location of the candidate pathogenic variant in exon 24 (a). Screenshot of the WGS data shows the homozygous single nucleotide variant (red arrow) present in the affected calf (b). Electropherograms from Sanger sequencing data (c). Note that the DNA sample from the affected calf carried the mutant allele in a homozygous state, while the parents were heterozygous, as expected for obligate carriers. The bovine desmoplakin protein is composed of the N-terminal plakin domain with 5 α-helical bundles (Z, Y, X, W, V), the coiled-coiled rod domain, and the C-terminal plakin domain with the 3 plakin-repeat subdomains (A, B, C) (d). Multiple-species DSP protein alignment (e). The predicted change of the highly conserved alanine to aspartic acid in the affected calf is highlighted by a red arrow