Illustration of a Border Collie pedigree segregating PRA constructed by the Cyrillic 2

1 software. This pedigree is constituted of 80 dogs, 33 dogs are affected (30 males and 3 females).<p><b>Copyright information:</b></p><p>Taken from "Progressive Retinal Atrophy in the Border Collie: A new XLPRA"</p><p>http://www.biomedcentral.com/1746-6148/4/10</p><p>BMC Veterinary Research 2008;4():10-10.</p><p>Published online 3 Mar 2008</p><p>PMCID:PMC2324077.</p><p></p

Summary of the SNPs found in the targeted sequencing.

<p>Only variants that are homozygous for a rare allele in all affected dogs and not homozygous in controls were considered to perfectly segregate. Nb SNPs: Number of SNPs; Hom: Nb Homozygous variants; HTZ: Nb Heterozygous variants.</p

Best-SNPs obtained by GWAS using 21 affected <i>vs</i> 28 unaffected French spaniels.

<p>Best-SNPs obtained by GWAS using 21 affected <i>vs</i> 28 unaffected French spaniels.</p

Association study for the acral mutilation syndrome in sporting dogs.

<p>(A) Clinical phenotype in the French spaniel breed (left picture). Dogs present insensitivity to pain in feet and can sometimes show severe self-mutilations with the absence of a toe. (B) Manhattan plot of -log10 transformed p-values by canine chromosome highlighting a strong signal on chromosome 4 (Wald test; p ≤ 10⁻¹⁶). C) Manhattan plot of -log10 empirical p-values (EMP) obtained by permutations test confirming the signal on chromosome 4 (Permutation = 100,000).</p

The AMS variant affect binding of nuclear complex.

<p>EMSAs were performed with wild type (WT) or mutated (Mut) duplex and nuclear extract (NE). (A) Detection of a mobility shift after incubation of 40 fmoles of radiolabelled WT-duplex (lane 1 to 4) or Mut-duplex (lane 5 to 8) with increasing amounts (0,3–0,6–1,2–2,4 μl) of HeLa NE. (B) 40 fmoles of radiolabelled WT-duplex were incubated without (lane 9 and 13) or with 1μl of HeLa NE (lane 10 to 12) or 5 μl of SY5Y (lane 14 to 16) NE and in the presence of 2 pmol of competitor WT-duplex (lane 11 and 15) or Mut-duplex (lane 12 and 16). Black bar: specific complex associated with the radioactive duplex, asterisk: non specific complex.</p

UCSC screenshot of the dog chromosome 4 locus (CanFam3) found by GWAS and its orthologous genomic region in human (GRCh38).

<p>The upper panel represents the canine locus with the first track showing homozygous haplotype blocks found in four sporting breeds (shaded greys) and the bottom horizontal bar corresponding to the common 1.8 Mb locus shared by the four breeds (black). Next tracks show the 3 Mb region targeted for high throughput sequencing (in red) and the resulting 478 variants identified by GATK program (dark green). The AMS variant is represented as a vertical bar (light green) and highlighted by a green arrow. Finally, the non-dog RefSeq genes (longest isoform) are represented in blue. The bottom panel corresponds to the human orthologous region (inverted orientation) of the canine targeted interval as given by the LiftOver tools available on the UCSC genome browser [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1006482#pgen.1006482.ref026" target="_blank">26</a>,<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1006482#pgen.1006482.ref027" target="_blank">27</a>]. Human RefSeq genes are annotated in blue and the predicted orthologous genomic position of the AMS variant corresponds to the green arrow.</p

qRT-PCR results in Dorsal Root Ganglia using the ΔΔCt methodology (cases in grey, controls in white).

<p>Measures obtained from two DRG by individual were pooled, and we also pooled affected dogs and controls. We used <i>PPIB</i> (<i>Peptidylprolyl Isomerase B</i>) as control and all genes of the locus (<i>GDNF-AS</i>, <i>GDNF</i>, <i>WDR70</i>, <i>NUP155</i>, <i>SLC1A3</i>) were tested 3 times with 3 replicates for each (t-test: p-value *<0.0001).</p

Summary of the variants obtained in the targeted sequencing before and after filtering.

<p>Summary of the variants obtained in the targeted sequencing before and after filtering.</p