Figure 1.
Mapping of IGS in Border Collies.
(A) A genome-wide association study using 7 cases and 7 controls indicates a signal on CFA 2. (B) The detailed view of CFA 2 delineates an associated interval of ∼5 Mb. (C) Homozygosity mapping. Each horizontal bar corresponds to the CFA 2 genotypes of the 7 analyzed cases. Homozygous regions with shared alleles are shown in blue. A shared homozygous interval delineates the exact boundaries of the critical interval from 17,283,880 to 20,818,258 bp (CanFam 3 assembly).
Table 1.
Variants detected by whole genome re-sequencing of an affected Border Collie.
Table 2.
Three non-synonymous variants in the critical interval of an affected Border Collie that were absent from 12 other dog genomes.
Figure 2.
Sanger sequencing of the CUBN:c.8392delC variant.
Electropherograms of a homozygous wildtype, heterozygous, and homozygous mutant dog, respectively, are shown. The position of the deletion is indicated by arrows. The predicted amino acid translation is shown above the sequence. Altered codons in the affected dog are shown in red. The deletion results in an early premature stop codon (p.Q2798Rfs*3).
Table 3.
Association of non-synonymous variants with the IGS phenotype.